Q6NUT2
PR
Gene name |
DPY19L2 |
Protein name |
Probable C-mannosyltransferase DPY19L2 |
Names |
Dpy-19-like protein 2, Protein dpy-19 homolog 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:283417 |
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 Q6NUT2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6NUT2-F1 | Predicted | AlphaFoldDB |
614 variants for Q6NUT2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_086978 | 192 | H>R | SPGF9; unknown pathological significance [UniProt] | Yes | UniProt |
| VAR_086979 | 196 | E>Q | SPGF9; unknown pathological significance [UniProt] | Yes | UniProt |
|
VAR_086980 CA150728 COSM3782757 RCV000087741 rs147579680 |
290 | R>H | Spermatogenic failure 9 (spgf9) Spermatogenic failure 9 prostate SPGF9 [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA150732 rs587777206 RCV000087745 VAR_086981 |
298 | R>C | Spermatogenic failure 9 (spgf9) Spermatogenic failure 9 SPGF9 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA6665633 VAR_086982 rs752764341 |
298 | R>H | Spermatogenic failure 9 (spgf9) Variant assessed as Somatic; 0.0 impact. SPGF9 [Ensembl, NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_086983 | 309 | Q>K | SPGF9; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000087743 rs751879424 |
395 | S>missing | Spermatogenic failure 9 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_086984 | 480 | E>K | SPGF9; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA385580708 VAR_086985 rs1592498429 |
493 | T>R | SPGF9; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
| VAR_086986 | 614 | E>del | SPGF9 [UniProt] | Yes | UniProt |
|
RCV001389267 rs587777205 CA150730 RCV000087742 |
680 | K>* | Spermatogenic failure 9 (spgf9) Spermatogenic failure 9 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336512335 CA385582594 |
2 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs758317129 CA6665936 |
4 | Q>E | No |
ClinGen ExAC |
|
|
CA6665935 rs750399920 |
6 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665932 rs546274208 |
7 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1565872284 CA385582553 |
8 | S>* | No |
ClinGen Ensembl |
|
|
CA238190277 rs998043353 |
8 | S>T | No |
ClinGen TOPMed |
|
|
rs774615899 CA6665929 |
10 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs774615899 CA6665930 |
10 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV000887455 rs79896845 CA6665931 |
10 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385582541 rs1323268380 |
11 | L>V | No |
ClinGen TOPMed |
|
|
CA385582535 rs1470959702 |
12 | Q>E | No |
ClinGen gnomAD |
|
|
CA6665927 rs763177429 |
12 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385582527 rs1480895130 |
13 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 15 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385582510 rs1472388388 |
16 | R>C | No |
ClinGen TOPMed |
|
|
CA238190199 rs11552167 |
17 | S>I | No |
ClinGen Ensembl |
|
|
rs747234378 CA6665921 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA385582497 rs1188920941 |
18 | Q>R | No |
ClinGen TOPMed |
|
|
rs780092860 CA385582488 |
19 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665920 rs780092860 |
19 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780092860 CA385582489 |
19 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665919 rs372477846 |
21 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1218448749 CA385582473 |
22 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750122641 CA238190195 |
23 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665918 rs750122641 |
23 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231296919 CA385582463 |
24 | G>W | No |
ClinGen gnomAD |
|
|
rs1592796320 CA385582456 |
25 | A>G | No |
ClinGen Ensembl |
|
|
rs753408757 CA6665915 |
25 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA238190115 rs916795679 |
26 | S>F | No |
ClinGen TOPMed |
|
|
CA385582446 rs752414535 |
27 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752414535 CA6665912 |
27 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385582442 rs1401595687 |
28 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1401595687 CA385582444 |
28 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 29 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773390329 CA6665909 |
30 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs199643909 CA6665908 |
31 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199643909 CA6665907 |
31 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477462941 CA385582420 |
32 | E>* | No |
ClinGen gnomAD |
|
|
rs1592796043 CA385582411 |
33 | V>G | No |
ClinGen Ensembl |
|
|
CA6665905 rs768880773 |
33 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665906 rs768880773 |
33 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 35 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385582401 rs1277625681 |
35 | E>Q | No |
ClinGen gnomAD |
|
|
rs772132182 CA6665902 |
36 | E>K | No |
ClinGen ExAC |
|
|
CA385582386 rs10878075 |
37 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263831561 CA385582383 |
37 | M>R | No |
ClinGen gnomAD |
|
|
rs1263831561 CA385582384 |
37 | M>T | No |
ClinGen gnomAD |
|
|
CA6665901 rs10878075 VAR_037333 |
37 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6665900 rs535377818 |
38 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6665899 rs757222297 |
40 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs10878074 VAR_037334 CA6665897 |
41 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385582342 rs755679769 |
44 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755679769 CA6665896 |
44 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385582333 rs1420599441 |
45 | G>V | No |
ClinGen TOPMed |
|
|
CA6665895 rs752080449 |
47 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs372693746 CA6665894 |
47 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385582319 rs1188259219 |
48 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1188259219 CA385582321 |
48 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6665892 rs750859265 |
49 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs765674502 CA6665891 |
49 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6665890 VAR_037335 rs10878073 |
51 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385582300 rs1243921431 |
51 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385582303 rs10878073 |
51 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168753909 CA385582291 |
52 | W>* | No |
ClinGen Ensembl |
|
|
rs1316200234 CA385582285 |
53 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1275192442 CA385582281 |
54 | S>A | No |
ClinGen gnomAD |
|
|
rs1275192442 CA385582282 |
54 | S>P | No |
ClinGen gnomAD |
|
|
rs1275192442 CA385582283 |
54 | S>T | No |
ClinGen gnomAD |
|
|
CA6665888 rs777310360 |
55 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866111713 CA238189914 |
56 | P>S | No |
ClinGen Ensembl |
|
|
CA6665887 rs764443492 |
58 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760826752 CA6665886 |
58 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA385582250 rs1384587431 |
59 | I>M | No |
ClinGen gnomAD |
|
|
CA385582252 rs1450574691 |
59 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA385582251 rs1450574691 |
59 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6665885 rs775421818 |
60 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs370030937 CA238189885 |
65 | R>* | No |
ClinGen ESP TOPMed |
|
|
CA385582208 rs1397571115 |
66 | K>E | No |
ClinGen gnomAD |
|
|
rs148129801 CA238189876 |
67 | G>V | No |
ClinGen ESP TOPMed |
|
|
CA385582178 rs1171898317 |
70 | L>P | No |
ClinGen gnomAD |
|
|
rs772400700 CA6665883 |
73 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 74 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665882 rs187320756 |
75 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770731687 CA6665880 |
78 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA385582123 rs1178324841 |
79 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6665878 rs199548963 COSM1363566 |
80 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 80 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385582113 rs1205239911 |
81 | P>A | No |
ClinGen gnomAD |
|
|
CA6665876 rs143732409 |
81 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1288303704 CA385582102 |
82 | F>L | No |
ClinGen gnomAD |
|
|
CA6665875 rs149376902 |
83 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1360678847 CA385582094 |
84 | F>I | No |
ClinGen gnomAD |
|
|
CA385582076 rs754709318 |
86 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665874 rs754709318 |
86 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385582062 rs1249109729 |
88 | S>F | No |
ClinGen TOPMed |
|
|
CA385582066 rs1374113196 |
88 | S>P | No |
ClinGen gnomAD |
|
|
rs751280943 CA6665873 |
90 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665871 rs757703201 |
93 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs111719532 CA6665870 COSM694828 |
93 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6665869 RCV000884003 rs142119548 |
98 | E>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1455047750 CA385581997 |
99 | L>M | No |
ClinGen TOPMed |
|
|
rs184219113 CA385581995 |
99 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184219113 CA6665868 |
99 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385581979 rs1565870777 |
102 | R>W | No |
ClinGen Ensembl |
|
| TCGA novel | 103 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs75862424 CA238189770 |
104 | F>V | No |
ClinGen Ensembl |
|
|
rs767469373 CA6665866 |
105 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759560196 CA6665865 |
106 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592794488 CA385581950 |
107 | R>G | No |
ClinGen Ensembl |
|
|
rs1389171300 CA385581943 |
108 | T>P | No |
ClinGen TOPMed |
|
|
rs774584270 CA6665864 |
110 | L>F | No |
ClinGen ExAC gnomAD |
|
| rs1490654554 | 112 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 112 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665845 rs766645950 |
114 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665844 rs763157937 |
115 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385581851 rs1380437169 |
120 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6665843 rs773108449 |
120 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665842 rs769499718 |
121 | W>L | No |
ClinGen ExAC gnomAD |
|
|
COSM694831 rs762971724 CA6665824 |
126 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385581644 rs1565863694 |
127 | L>P | No |
ClinGen Ensembl |
|
|
rs1177401633 CA385581647 |
127 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 128 | F>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453621619 CA385581642 |
128 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1425170667 CA385581618 |
131 | D>N | No |
ClinGen TOPMed |
|
|
CA6665823 rs79454879 |
132 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs79454879 CA385581610 |
132 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs765434660 CA6665822 |
132 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs79454879 CA238187315 |
132 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA385581605 rs1367640593 |
133 | H>Y | No |
ClinGen TOPMed |
|
|
CA6665820 rs776476639 |
135 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs776476639 CA385581587 |
135 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 137 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461489088 CA385581569 |
138 | S>L | No |
ClinGen gnomAD |
|
|
CA238187270 rs770291188 |
142 | R>Q | No |
ClinGen Ensembl |
|
|
CA6665818 rs760662810 |
142 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 143 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 143 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771726551 COSM1289818 CA6665816 |
144 | M>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771726551 CA6665817 |
144 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571563483 CA6665815 |
147 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA6665814 rs551277775 COSM1363565 |
147 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6665813 rs551277775 |
147 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551277775 CA385581511 |
147 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6665812 rs755657712 |
148 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755519442 CA6665810 |
148 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755519442 CA6665811 |
148 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1376364735 CA385581499 |
150 | M>L | No |
ClinGen gnomAD |
|
|
CA6665788 rs748938582 |
151 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665789 rs748938582 CA6665790 |
151 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA238186150 rs796428736 |
152 | L>I | No |
ClinGen Ensembl |
|
|
rs1259717445 CA385581467 |
153 | Y>C | No |
ClinGen TOPMed |
|
|
rs201239410 CA6665786 |
156 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1363940926 CA385581435 |
157 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA238186111 rs754515933 |
160 | I>T | No |
ClinGen Ensembl |
|
|
CA385581419 rs1197979919 |
160 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA238186110 rs529589708 |
161 | I>S | No |
ClinGen Ensembl |
|
| TCGA novel | 162 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA238186109 rs375942892 |
163 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA6665783 rs758933100 |
164 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6665784 rs146516881 |
164 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371693431 CA6665782 COSM1747189 |
165 | S>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM431644 rs1207188290 CA385581349 |
171 | W>* | breast [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 171 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757474126 CA6665780 |
172 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs754108700 CA6665779 |
173 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs764368460 CA6665777 |
174 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6665776 rs145514959 |
175 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6665775 rs752480558 |
177 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA238186052 rs367589953 |
179 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs773774755 CA6665772 |
180 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1175130299 CA385581272 |
182 | P>S | No |
ClinGen gnomAD |
|
|
CA385581261 rs762330560 CA6665770 |
184 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177143699 CA385581259 |
184 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1194994139 CA385581230 |
188 | I>T | No |
ClinGen gnomAD |
|
|
rs1217893321 CA385581222 |
189 | K>N | No |
ClinGen TOPMed |
|
|
CA6665768 rs769377930 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6665767 rs747430016 |
190 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385581209 rs151194464 |
191 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6665766 rs151194464 |
191 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772493053 CA6665765 |
193 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746360866 CA6665764 |
194 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1356160217 CA385585190 |
197 | V>A | No |
ClinGen gnomAD |
|
|
CA385585194 rs1242129721 |
197 | V>I | No |
ClinGen TOPMed |
|
|
CA385585180 rs1313373066 |
199 | I>V | No |
ClinGen gnomAD |
|
|
CA6665739 rs761421662 |
200 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1315171251 CA385585167 |
201 | S>A | No |
ClinGen gnomAD |
|
|
CA385585166 rs1440778977 |
201 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA385585164 rs1440778977 |
201 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1380645268 CA385585145 |
204 | C>R | Variant assessed as Somatic; 4.673e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1330867693 CA385585134 |
205 | T>I | No |
ClinGen gnomAD |
|
|
rs201773997 CA238174391 |
207 | M>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA385585123 rs1223151116 |
207 | M>V | No |
ClinGen TOPMed |
|
|
rs200602630 CA238174390 COSM3782758 |
210 | M>V | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
rs1487565765 CA385585091 |
211 | N>S | No |
ClinGen TOPMed |
|
|
rs375807753 CA6665737 |
213 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385585070 rs1386038479 |
214 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385585068 rs1386038479 |
214 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759775624 CA6665736 |
215 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6665735 rs774930151 |
220 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6665734 rs771288053 |
222 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1019297343 CA238174389 |
223 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1290066336 CA385585000 |
225 | R>* | No |
ClinGen gnomAD |
|
|
CA385584982 rs1157299722 |
227 | E>G | No |
ClinGen TOPMed |
|
|
CA385584969 rs1225125957 |
229 | L>P | No |
ClinGen gnomAD |
|
|
rs1425624265 CA385584960 |
230 | N>K | No |
ClinGen TOPMed |
|
|
rs142128553 CA6665733 |
232 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6665731 rs770181542 |
236 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs759961460 CA385584896 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385584890 rs1175479003 |
239 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665715 rs148633817 |
241 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385584870 rs1322770497 |
242 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 242 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385584845 rs1281357738 |
245 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1319059505 CA385584840 |
246 | V>I | No |
ClinGen TOPMed |
|
|
CA6665714 rs771537955 |
247 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6665713 rs369748911 |
247 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6665712 rs574395176 |
248 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1428904494 CA385584831 |
248 | V>I | No |
ClinGen TOPMed |
|
|
CA385584825 rs1592710341 |
249 | I>V | No |
ClinGen Ensembl |
|
|
rs1428909063 CA385584797 COSM1512735 |
253 | N>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs770016862 CA6665711 |
256 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781489854 CA6665709 |
261 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6665708 rs768747258 TCGA novel |
262 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs779680800 CA6665706 |
263 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779680800 CA6665707 |
263 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA385584716 rs1481045859 |
264 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269775734 CA385584708 |
265 | A>V | No |
ClinGen TOPMed |
|
|
CA385584698 rs1261470955 |
267 | L>V | No |
ClinGen gnomAD |
|
|
CA6665705 rs758378026 |
268 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA385583719 CA6665664 rs748899448 |
268 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA385583718 rs777119506 |
269 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385583714 rs1396638405 |
269 | G>V | No |
ClinGen gnomAD |
|
|
CA6665663 rs777119506 |
269 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385583699 rs758839028 |
272 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758839028 CA6665659 |
272 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371563711 CA385583687 COSM4147383 |
274 | G>C | thyroid [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6665658 rs750804146 |
274 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs371898412 CA6665656 |
276 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6665657 rs574571519 |
276 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254780787 CA385583672 |
277 | T>A | No |
ClinGen TOPMed |
|
|
CA385583666 rs1428625430 |
278 | V>L | No |
ClinGen TOPMed |
|
|
CA385583643 rs1249189953 |
281 | F>C | No |
ClinGen gnomAD |
|
|
rs1175476819 COSM274869 CA385583641 |
281 | F>L | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1458706523 CA385583582 |
288 | A>T | No |
ClinGen TOPMed |
|
|
rs1489812158 CA385583568 |
290 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6665637 rs199562120 |
292 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385583557 rs1301946242 |
292 | M>L | No |
ClinGen TOPMed |
|
|
CA6665636 rs754330251 |
293 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6665635 rs764591745 |
294 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6665634 rs760679938 |
297 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385583515 rs1403627218 |
299 | E>K | No |
ClinGen gnomAD |
|
|
rs1229748691 CA385583509 |
300 | S>R | No |
ClinGen TOPMed |
|
|
CA6665631 rs759725841 |
303 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6665632 rs573019515 |
303 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385583484 rs759725841 |
303 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs774183925 CA6665630 |
304 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385583473 rs770656278 |
305 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665629 rs770656278 |
305 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139405673 CA238171983 |
307 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385583443 rs1175688473 |
310 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6665625 rs780818533 |
311 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665624 rs780818533 |
311 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407890385 CA385583425 |
312 | I>T | No |
ClinGen TOPMed |
|
|
rs1424957963 CA385583411 |
314 | T>S | No |
ClinGen TOPMed |
|
|
rs1379170615 CA385583406 |
315 | L>S | No |
ClinGen gnomAD |
|
|
CA385583357 rs1468188967 |
321 | S>G | No |
ClinGen gnomAD |
|
|
rs201393221 CA6665611 |
323 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1173062196 CA385583322 |
325 | R>S | No |
ClinGen gnomAD |
|
|
CA385583302 rs1452865054 |
328 | I>T | No |
ClinGen gnomAD |
|
|
CA385583292 rs1208958667 |
330 | L>F | No |
ClinGen TOPMed |
|
|
rs1260986677 CA385583269 |
333 | S>F | No |
ClinGen TOPMed |
|
|
CA385583264 rs1488981575 |
334 | N>S | No |
ClinGen TOPMed |
|
|
CA385583256 rs1592602079 |
335 | V>A | No |
ClinGen Ensembl |
|
|
rs1190948766 CA385583259 |
335 | V>I | No |
ClinGen TOPMed |
|
|
CA385583249 rs1262313095 |
336 | A>V | No |
ClinGen TOPMed |
|
|
CA385583224 rs1371120175 |
340 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs915043389 CA238171804 |
341 | W>* | No |
ClinGen TOPMed |
|
|
CA238171803 rs1052270006 |
342 | Q>* | No |
ClinGen TOPMed |
|
|
rs1052270006 CA385583211 |
342 | Q>K | No |
ClinGen TOPMed |
|
|
rs935212047 CA238171802 |
344 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1450248461 CA385583194 |
344 | A>V | No |
ClinGen gnomAD |
|
|
rs1240371361 CA385583184 |
345 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs554155692 CA238171801 |
347 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1201797922 CA385583150 |
350 | T>I | No |
ClinGen gnomAD |
|
|
CA385583148 rs1417872960 |
351 | Q>E | No |
ClinGen TOPMed |
|
|
CA385582995 rs1280172514 |
353 | A>V | No |
ClinGen TOPMed |
|
|
CA6665604 rs746450536 |
358 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA385582947 rs1592590933 |
360 | V>I | No |
ClinGen Ensembl |
|
|
rs564839767 CA6665603 |
364 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1282175373 CA385582905 |
366 | P>R | No |
ClinGen gnomAD |
|
|
CA385582907 rs1207219246 |
366 | P>S | No |
ClinGen TOPMed |
|
|
rs1282556652 CA385582899 |
367 | S>T | No |
ClinGen TOPMed |
|
|
CA385582855 rs1210466848 |
373 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385582803 rs1592588238 |
378 | I>V | No |
ClinGen Ensembl |
|
|
CA6665590 rs536113994 |
379 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1220779082 CA385582779 |
382 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6665589 rs765101740 |
385 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433167762 CA385582731 |
388 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 389 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs547216294 CA6665587 |
389 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385582713 rs1307704396 |
391 | S>P | No |
ClinGen TOPMed |
|
|
rs1469763206 CA385582706 |
392 | M>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385582705 rs1469763206 |
392 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6665586 rs764063855 |
392 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6665585 rs760315402 |
393 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6665584 rs775056921 |
395 | S>Y | No |
ClinGen ExAC |
|
|
rs567228205 CA6665583 |
396 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385582673 rs1469096011 |
397 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1215829100 CA385582665 |
398 | Y>S | No |
ClinGen TOPMed |
|
|
CA6665582 rs745516711 |
399 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385582650 rs1447214355 |
400 | S>L | No |
ClinGen gnomAD |
|
|
CA6665580 rs770177961 |
401 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1025837418 CA238171560 |
402 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385582638 rs1212137487 |
403 | L>I | No |
ClinGen gnomAD |
|
|
COSM3417060 CA6665578 rs781674103 |
404 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs906528996 CA238171559 |
405 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA385582621 rs1294504577 |
405 | T>S | No |
ClinGen gnomAD |
|
|
rs747131440 CA385582611 |
406 | W>* | No |
ClinGen ExAC |
|
|
rs747131440 CA6665576 |
406 | W>C | No |
ClinGen ExAC |
|
|
CA385581822 rs1182213845 |
408 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 410 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385581783 rs1229990887 |
414 | E>* | No |
ClinGen TOPMed |
|
|
CA238170912 rs573188846 |
415 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1339616829 CA385581771 |
416 | Q>K | No |
ClinGen TOPMed |
|
|
rs560371115 CA6665558 |
420 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1314856087 CA385581713 |
424 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs2971485 CA238170911 |
425 | F>C | No |
ClinGen Ensembl |
|
|
rs762223930 CA6665557 |
426 | W>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1363563 rs1294392018 CA385581194 |
428 | I>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752714987 CA6665543 |
429 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752714987 CA385581180 |
429 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385581168 rs1463930231 |
430 | G>D | No |
ClinGen TOPMed |
|
|
rs1388086274 CA385581159 |
431 | S>G | No |
ClinGen gnomAD |
|
|
rs1396223370 CA385581154 |
431 | S>T | No |
ClinGen TOPMed |
|
|
CA385581142 rs1458009538 |
432 | A>D | No |
ClinGen gnomAD |
|
|
CA6665541 rs202180639 |
432 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665540 rs751022321 |
433 | W>* | No |
ClinGen ExAC |
|
|
rs1300128072 CA385581094 |
437 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 438 | I>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385581087 rs1412574677 |
438 | I>L | No |
ClinGen TOPMed |
|
|
rs766089063 CA6665539 |
439 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1311302421 CA385581081 |
439 | I>V | No |
ClinGen TOPMed |
|
|
CA385581069 rs1412451186 |
441 | K>* | No |
ClinGen gnomAD |
|
|
rs762569582 CA6665538 |
442 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs772801195 CA6665537 |
446 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385581037 rs772801195 |
446 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568411020 CA6665536 |
448 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA238170279 rs568411020 |
448 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548305097 CA6665535 |
449 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548305097 CA385581018 |
449 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6665533 rs772440579 |
450 | V>G | No |
ClinGen ExAC gnomAD |
|
| rs1419970070 | 453 | H>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330370234 CA385580990 |
453 | H>R | No |
ClinGen gnomAD |
|
|
CA385580970 rs781249397 |
454 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs781249397 CA6665523 |
454 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754869560 CA238170115 |
455 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs147328742 CA6665521 |
455 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147328742 CA6665520 |
455 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754869560 CA6665522 |
455 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385580962 rs1263120948 |
456 | L>P | No |
ClinGen gnomAD |
|
|
CA238170114 rs1031132493 |
457 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs201623035 CA6665518 |
459 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201623035 CA6665519 |
459 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs113656875 CA238170113 |
460 | I>R | No |
ClinGen Ensembl |
|
|
rs954837669 CA238170111 |
461 | A>E | No |
ClinGen TOPMed |
|
|
CA6665514 rs768107129 |
464 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs775709650 CA6665515 |
464 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs759935633 CA385580912 |
465 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6665512 rs774953420 |
467 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs774953420 CA238170110 |
467 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6665511 rs771168622 |
468 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6665510 rs749318591 |
469 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA385580877 rs1222941322 |
470 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 472 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665509 rs568134176 |
473 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6665508 rs769895202 |
474 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6665507 rs748043063 |
476 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA385580801 rs1565740330 |
481 | F>C | No |
ClinGen Ensembl |
|
|
CA385580789 rs1190725573 |
483 | F>L | No |
ClinGen gnomAD |
|
|
CA6665505 rs754752192 |
487 | A>T | No |
ClinGen ExAC |
|
|
CA6665504 rs746978273 COSM160745 |
487 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1206867039 CA385580737 |
488 | T>I | No |
ClinGen gnomAD |
|
|
CA6665489 rs144086460 |
489 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2971501 CA238169985 |
491 | R>I | No |
ClinGen Ensembl |
|
|
rs1395231288 CA385580718 |
492 | Y>H | No |
ClinGen gnomAD |
|
|
rs977476229 CA238169983 |
493 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385580705 rs1227700579 |
494 | K>E | No |
ClinGen gnomAD |
|
|
rs1410694230 CA385580665 |
500 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs967857501 CA385580660 |
501 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA238169982 rs967857501 |
501 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6665486 rs746748059 |
502 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780024525 CA6665485 |
507 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385580609 rs1330393446 |
508 | I>T | No |
ClinGen TOPMed |
|
|
rs1478776218 COSM942406 CA385580556 |
514 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1478776218 CA385580557 |
514 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs760526902 CA6665466 |
514 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs760526902 CA385580554 |
514 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA385580526 rs1269995016 |
518 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1402440931 CA385580515 |
520 | L>S | No |
ClinGen TOPMed |
|
|
CA6665463 rs772043927 |
521 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA385580498 rs1276170384 |
523 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6665461 RCV000965244 rs139383735 |
524 | I>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6665462 rs139383735 |
524 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747825778 CA6665434 |
530 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6665433 rs780953767 |
530 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 531 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385580434 rs1214879022 |
531 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385580418 rs1436193525 |
533 | H>R | No |
ClinGen gnomAD |
|
|
CA6665430 rs770463477 |
535 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757511135 CA6665411 |
537 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665410 rs749830038 |
539 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6665409 rs778182769 |
545 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6665408 rs756202691 |
547 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA385580308 rs1174700936 |
548 | A>S | No |
ClinGen TOPMed |
|
|
CA385580307 rs1318541208 |
548 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1383786076 CA385580288 |
551 | I>T | No |
ClinGen gnomAD |
|
|
rs752764158 CA6665407 |
552 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA385580269 rs1397170785 |
554 | M>T | No |
ClinGen gnomAD |
|
|
rs550504610 CA6665405 |
554 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6665404 rs376589645 |
556 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385580217 rs1159369858 |
561 | T>I | No |
ClinGen TOPMed |
|
|
CA6665403 rs373066133 |
562 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6665401 rs773289513 |
563 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1448028368 CA385580205 |
563 | H>Q | No |
ClinGen gnomAD |
|
|
CA385580208 rs1368191746 |
563 | H>Y | No |
ClinGen TOPMed |
|
|
CA6665399 rs141488244 |
566 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6665400 rs141488244 |
566 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385580178 rs1199142034 |
567 | M>T | No |
ClinGen gnomAD |
|
|
CA6665398 rs776250296 |
569 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1282095557 CA385580154 |
571 | I>L | No |
ClinGen gnomAD |
|
|
rs1234570183 CA385580132 |
574 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA385580107 rs1293624581 |
576 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1368988400 CA385580092 |
578 | G>A | No |
ClinGen gnomAD |
|
|
CA6665378 rs763688369 |
581 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs199875016 CA6665377 |
582 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6665376 rs537965508 |
582 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537965508 CA385580065 |
582 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537965508 CA385580066 |
582 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6665374 rs763379146 |
583 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385580060 rs1181864912 |
583 | R>S | No |
ClinGen gnomAD |
|
|
rs773538542 CA6665373 |
584 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6665371 rs748677303 |
585 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs569045259 CA6665370 |
585 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6665372 rs748677303 |
585 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548944269 CA6665369 |
587 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6665368 rs747005732 |
587 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs181185180 CA238153166 |
590 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6665365 rs750291381 |
590 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181185180 CA6665366 |
590 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6665364 COSM193611 rs148329771 |
593 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 594 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757073828 CA6665363 |
594 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6665362 rs753828638 |
595 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6665361 rs763876807 |
595 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA385579977 rs1565710550 |
597 | M>R | No |
ClinGen Ensembl |
|
|
CA385579978 rs1565710550 |
597 | M>T | No |
ClinGen Ensembl |
|
|
rs752147860 CA6665359 |
599 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759171558 CA6665357 |
599 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs767243823 CA6665358 |
599 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773945064 CA6665356 |
600 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1034367115 CA238153115 |
603 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1034367115 CA385579941 |
603 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 603 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665352 rs369446846 |
605 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747152353 CA6665351 |
606 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs775409379 COSM3670123 CA6665350 |
606 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA385579922 rs775409379 |
606 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1198361160 CA385579915 |
607 | N>I | No |
ClinGen TOPMed |
|
|
rs1198361160 CA385579916 |
607 | N>S | No |
ClinGen TOPMed |
|
|
CA6665348 rs146077092 |
611 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs375198705 CA6665347 |
612 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757130658 CA6665346 |
613 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665344 rs547671825 |
618 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 619 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 624 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 627 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371811193 CA385579771 |
627 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 628 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665339 rs1555183989 |
629 | Y>H | No |
ClinGen Ensembl |
|
|
CA6665337 rs142771770 |
630 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527465476 CA6665338 |
630 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1160233561 CA385579742 |
631 | T>A | No |
ClinGen gnomAD |
|
|
CA6665336 rs751220360 |
631 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6665335 rs765960649 |
632 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472345101 CA385579708 |
635 | A>S | No |
ClinGen gnomAD |
|
|
rs1213317944 CA385579702 |
636 | V>F | No |
ClinGen gnomAD |
|
|
rs1165468967 CA385579681 |
639 | G>D | No |
ClinGen gnomAD |
|
|
rs1200362215 CA385579673 |
640 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6665308 rs764394092 |
641 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1236105189 CA385579671 |
641 | M>V | No |
ClinGen TOPMed |
|
|
CA6665307 rs761032558 |
643 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184390431 CA385579646 COSM694836 |
644 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs775873403 CA6665306 |
644 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA385579653 rs1592384835 |
644 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 645 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA238149427 rs934890552 |
645 | A>S | No |
ClinGen TOPMed |
|
|
rs768123067 CA6665305 |
646 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6665304 rs577993411 |
646 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs557778926 COSM1128502 CA6665302 |
647 | I>V | liver prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA385579618 rs1467615389 |
649 | L>Q | No |
ClinGen TOPMed |
|
|
CA6665299 rs568982896 |
650 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6665300 rs568982896 |
650 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747922250 CA6665298 |
652 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665297 rs375391750 |
654 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549028608 CA6665295 |
656 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415435279 CA385579572 |
657 | N>I | No |
ClinGen gnomAD |
|
|
rs1415435279 CA385579570 |
657 | N>S | No |
ClinGen gnomAD |
|
|
rs779558353 CA6665294 |
658 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs750045100 CA6665292 |
662 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6665291 rs756492495 |
664 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA6665290 rs756492495 |
664 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6665289 rs753105991 |
665 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768180331 CA6665288 |
666 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 667 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665274 rs745370120 |
669 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs2942672 CA6665275 |
669 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 670 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385579471 rs1368140076 |
671 | K>E | No |
ClinGen gnomAD |
|
|
CA6665272 rs756901743 |
672 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384005924 CA385579458 |
673 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 674 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665271 rs753163494 |
674 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906552850 CA238148549 |
675 | S>F | No |
ClinGen TOPMed |
|
|
CA385579429 rs1341626063 |
677 | Y>C | No |
ClinGen TOPMed |
|
|
rs755355598 CA6665269 |
678 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs2942671 CA385579419 |
679 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs2942671 CA238148529 |
679 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA238148520 rs202000576 |
679 | R>Q | No |
ClinGen Ensembl |
|
|
COSM1135416 rs587777205 CA6665268 |
680 | K>Q | kidney Spermatogenic failure 9 (spgf9) [Cosmic, Ensembl] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA238148502 rs571772641 |
680 | K>R | No |
ClinGen Ensembl |
|
|
CA385579395 rs1309469284 |
683 | K>R | No |
ClinGen gnomAD |
|
|
CA385579391 rs1194824313 |
684 | E>K | No |
ClinGen gnomAD |
|
|
rs763004028 CA6665267 |
687 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA238148500 rs868837019 |
687 | D>N | No |
ClinGen gnomAD |
|
|
rs750515445 CA6665266 |
688 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 688 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385579356 rs765421121 |
689 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326179575 CA385579334 |
692 | L>V | No |
ClinGen gnomAD |
|
|
rs1249149131 CA385579321 |
693 | H>Q | No |
ClinGen TOPMed |
|
|
CA385579310 rs1261013736 |
695 | N>S | No |
ClinGen gnomAD |
|
|
COSM244137 rs1233022277 CA385579302 |
696 | Y>C | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 697 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374985982 CA238148469 |
701 | E>D | No |
ClinGen ESP gnomAD |
|
|
rs948180502 CA238148483 |
701 | E>Q | No |
ClinGen TOPMed |
|
|
rs372830685 CA6665262 |
705 | V>I | No |
ClinGen ExAC TOPMed |
|
|
CA385579232 rs1325829376 |
706 | V>A | No |
ClinGen gnomAD |
|
|
CA385579229 rs1316112368 |
707 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6665261 rs760400365 COSM416122 |
707 | R>T | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775463620 CA6665260 |
708 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1462899575 CA385579196 |
710 | P>L | No |
ClinGen gnomAD |
|
|
rs370595717 CA238144778 |
711 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6665244 rs370595717 |
711 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385579190 rs370595717 |
711 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760530857 CA6665242 |
712 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1259252760 CA385579167 |
714 | M>I | No |
ClinGen gnomAD |
|
|
CA385579152 rs1592347383 |
716 | E>D | No |
ClinGen Ensembl |
|
|
CA385579150 rs1187814497 |
717 | I>V | No |
ClinGen gnomAD |
|
|
CA238144765 rs372809192 |
720 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 723 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385579101 rs1437987819 |
723 | P>L | No |
ClinGen Ensembl |
|
|
rs775322832 CA6665241 |
724 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs148896873 CA6665240 |
725 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148896873 CA6665239 |
725 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272446082 CA385579093 |
725 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252051036 CA385579089 |
726 | A>T | No |
ClinGen Ensembl |
|
|
rs199856082 CA6665237 |
729 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 729 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 730 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294139769 CA385579054 |
731 | L>S | No |
ClinGen gnomAD |
|
|
rs879199409 CA238144734 |
732 | C>S | No |
ClinGen Ensembl |
|
|
rs769570127 CA6665234 |
734 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM193604 rs201845477 CA6665235 |
734 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385579031 rs1392008116 |
735 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 737 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6665232 rs780447672 |
737 | E>K | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs375588607 CA6665231 |
738 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779226004 CA6665229 |
739 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753909113 CA6665228 |
741 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA238144689 rs561654055 |
741 | P>L | No |
ClinGen 1000Genomes |
|
|
rs753909113 CA385578995 |
741 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753909113 CA6665227 |
741 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381935031 CA385578984 |
743 | F>I | No |
ClinGen TOPMed |
|
|
rs764339563 CA6665226 |
745 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6665225 rs756305185 |
748 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457809711 CA385578947 |
748 | Q>R | No |
ClinGen gnomAD |
|
|
CA238144676 rs140814471 |
750 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6665224 rs140814471 |
750 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385578933 rs140814471 |
750 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336688646 CA605344387 |
752 | Y>L | No |
ClinGen gnomAD |
|
|
CA385578910 rs1448155323 |
753 | R>S | No |
ClinGen TOPMed |
|
|
rs1276072728 CA385578901 |
755 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759187189 CA6665222 |
756 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6665221 rs12314553 VAR_062214 |
757 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA385578880 rs1316802685 |
758 | N>S | No |
ClinGen gnomAD |
|
|
CA6665220 rs766409643 |
759 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6NUT2
8 regional properties for Q6NUT2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH3 domain | 8 - 69 | IPR001452 |
| domain | Dedicator of cytokinesis protein 2, DHR2 domain | 1200 - 1620 | IPR026799 |
| domain | C2 DOCK-type domain | 419 - 615 | IPR027007 |
| domain | DOCKER domain | 1211 - 1622 | IPR027357 |
| domain | Dedicator of cytokinesis, N-terminal domain | 72 - 414 | IPR032376 |
| domain | DOCKER, Lobe A | 1205 - 1334 | IPR046769 |
| domain | DOCKER, Lobe B | 1395 - 1474 | IPR046770 |
| domain | DOCKER, Lobe C | 1516 - 1615 | IPR046773 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| nuclear inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mannosyltransferase activity | Catalysis of the transfer of a mannosyl group to an acceptor molecule, typically another carbohydrate or a lipid. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan | The glycosylation of a peptidyl-tryptophan residue by the transfer of alpha-mannopyranose from dolichyl-activated mannose to the indole ring. |
| spermatid development | The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z388 | DPY19L4 | Probable C-mannosyltransferase DPY19L4 | Homo sapiens (Human) | PR |
| A2AJQ3 | Dpy19l4 | Probable C-mannosyltransferase DPY19L4 | Mus musculus (Mouse) | PR |
| A6X919 | Dpy19l1 | Probable C-mannosyltransferase DPY19L1 | Mus musculus (Mouse) | PR |
| P0CW70 | Dpy19l2 | Probable C-mannosyltransferase DPY19L2 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRKQGVSSKR | LQSSGRSQSK | GRRGASLARE | PEVEEEMEKS | ALGGGKLPRG | SWRSSPGRIQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SLKERKGLEL | EVVAKTFLLG | PFQFVRNSLA | QLREKVQELQ | ARRFSSRTTL | GIAVFVAILH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WLHLVTLFEN | DRHFSHLSSL | EREMTFRTEM | GLYYSYFKTI | IEAPSFLEGL | WMIMNDRLTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YPLIINAIKR | FHLYPEVIIA | SWYCTFMGIM | NLFGLETKTC | WNVTRIEPLN | EVQSCEGLGD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PACFYVGVIF | ILNGLMMGLF | FMYGAYLSGT | QLGGLITVLC | FFFNHGEATR | VMWTPPLRES |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSYPFLVLQM | CILTLILRTS | SNDRRPFIAL | CLSNVAFMLP | WQFAQFILFT | QIASLFPMYV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VGYIEPSKFQ | KIIYMNMISV | TLSFILMFGN | SMYLSSYYSS | SLLMTWAIIL | KRNEIQKLGV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SKLNFWLIQG | SAWWCGTIIL | KFLTSKILGV | SDHIRLSDLI | AARILRYTDF | DTLIYTCAPE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FDFMEKATPL | RYTKTLLLPV | VMVITCFIFK | KTVRDISYVL | ATNIYLRKQL | LEHSELAFHT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LQLLVFTALA | ILIMRLKMFL | TPHMCVMASL | ICSRQLFGWL | FRRVRFEKVI | FGILTVMSIQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GYANLRNQWS | IIGEFNNLPQ | EELLQWIKYS | TTSDAVFAGA | MPTMASIKLS | TLHPIVNHPH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YEDADLRART | KIVYSTYSRK | SAKEVRDKLL | ELHVNYYVLE | EAWCVVRTKP | GCSMLEIWDV |
| 730 | 740 | 750 | |||
| EDPSNAANPP | LCSVLLEDAR | PYFTTVFQNS | VYRVLKVN |