regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF10_chr8_1818926_1963641 | 1882647 | G | A | missense_variant | MODERATE | HG02145.hp2 | a0015 | a0015c0072 | a0015c0072t0007 | a0015c0072t0007g0329 | 1 | 363 | 0.0028 | 0 | c.973 others(3): Show |
p.Val others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 10/29 | 1208/5648 | 973/4035 | 325/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1882737 | C | T | missense_variant | MODERATE | HG02083.hp2 | a0016 | a0016c0146 | a0016c0146t0006 | a0016c0146t0006g0111 | 1 | 363 | 0.0028 | 0 | c.106 others(4): Show |
p.Leu others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 10/29 | 1298/5648 | 1063/4035 | 355/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1885635 | G | C | missense_variant | MODERATE | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(60): Show |
a0002a0008a0014others(3): Show | a0002c0017a0002c0022a0002c0024others(40): Show | a0002c0017t0002a0002c0017t0006a0002c0022t0001others(51): Show | a0002c0017t0002g0041a0002c0017t0002g0042a0002c0017t0002g0056others(59): Show | 63 | 363 | 0.1736 | 0 | c.111 others(4): Show |
p.Leu others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/29 | 1345/5648 | 1110/4035 | 370/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1885645 | G | A | missense_variant | MODERATE | HG02083.hp2 | a0016 | a0016c0146 | a0016c0146t0006 | a0016c0146t0006g0111 | 1 | 363 | 0.0028 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/29 | 1355/5648 | 1120/4035 | 374/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1885704 | G | C | missense_variant | MODERATE | HG02717.hp1 HG02895.hp2 |
a0009 | a0009c0029 | a0009c0029t0007a0009c0029t0041 | a0009c0029t0007g0202a0009c0029t0041g0201 | 2 | 363 | 0.0055 | 0 | c.117 others(4): Show |
p.Gln others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/29 | 1414/5648 | 1179/4035 | 393/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1898506 | A | T | missense_variant | MODERATE | HG02647.hp2 HG02723.hp2 |
a0010 | a0010c0097a0010c0098 | a0010c0097t0014a0010c0098t0003 | a0010c0097t0014g0205a0010c0098t0003g0203 | 2 | 363 | 0.0055 | 0 | c.163 others(4): Show |
p.Gln others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 15/29 | 1866/5648 | 1631/4035 | 544/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1909318 | T | C | missense_variant | MODERATE | HG02717.hp2 HG02922.hp2 |
a0012 | a0012c0084a0012c0130 | a0012c0084t0003a0012c0130t0073 | a0012c0084t0003g0356a0012c0130t0073g0342 | 2 | 363 | 0.0055 | 0 | c.199 others(4): Show |
p.Met others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/29 | 2226/5648 | 1991/4035 | 664/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1909425 | G | A | missense_variant | MODERATE | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(5): Show |
a0003a0008 | a0003c0038a0003c0051a0003c0086others(2): Show | a0003c0038t0018a0003c0038t0019a0003c0051t0005others(4): Show | a0003c0038t0018g0085a0003c0038t0019g0266a0003c0051t0005g0289others(4): Show | 8 | 363 | 0.0220 | 0 | c.209 others(4): Show |
p.Val others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 18/29 | 2333/5648 | 2098/4035 | 700/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1925295 | A | G | missense_variant | MODERATE | HG02258.hp1 | a0024 | a0024c0094 | a0024c0094t0016 | a0024c0094t0016g0103 | 1 | 363 | 0.0028 | 0 | c.250 others(4): Show |
p.His others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 22/29 | 2736/5648 | 2501/4035 | 834/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1928484 | A | C | missense_variant | MODERATE | HG01081.hp1 HG02280.hp1 HG02280.hp2 others(3): Show |
a0004 | a0004c0040a0004c0044a0004c0064others(1): Show | a0004c0040t0009a0004c0040t0065a0004c0044t0002others(3): Show | a0004c0040t0009g0038a0004c0040t0065g0181a0004c0044t0002g0328others(3): Show | 6 | 363 | 0.0165 | 0 | c.275 others(4): Show |
p.Thr others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 24/29 | 2990/5648 | 2755/4035 | 919/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1929314 | T | G | missense_variant | MODERATE | HG00280.hp1 HG00741.hp2 HG01109.hp2 others(3): Show |
a0005a0017 | a0005c0039a0005c0087a0005c0088others(2): Show | a0005c0039t0001a0005c0039t0030a0005c0087t0002others(3): Show | a0005c0039t0001g0070a0005c0039t0030g0139a0005c0087t0002g0276others(3): Show | 6 | 363 | 0.0165 | 0 | c.295 others(4): Show |
p.Ser others(6): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 25/29 | 3185/5648 | 2950/4035 | 984/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1945493 | G | T | missense_variant | MODERATE | HG00544.hp2 | a0019 | a0019c0109 | a0019c0109t0044 | a0019c0109t0044g0121 | 1 | 363 | 0.0028 | 0 | c.323 others(4): Show |
p.Ala others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 27/29 | 3470/5648 | 3235/4035 | 1079/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1945577 | C | A | missense_variant | MODERATE | HG02451.hp2 | a0020 | a0020c0103 | a0020c0103t0002 | a0020c0103t0002g0039 | 1 | 363 | 0.0028 | 0 | c.331 others(4): Show |
p.Leu others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 27/29 | 3554/5648 | 3319/4035 | 1107/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1945628 | G | A | missense_variant | MODERATE | HG02258.hp1 HG03209.hp1 |
a0023a0024 | a0023c0089a0024c0094 | a0023c0089t0034a0024c0094t0016 | a0023c0089t0034g0350a0024c0094t0016g0103 | 2 | 363 | 0.0055 | 0 | c.337 others(4): Show |
p.Ala others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 27/29 | 3605/5648 | 3370/4035 | 1124/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1956914 | G | C | missense_variant | MODERATE | NA18522.hp1 | a0021 | a0021c0142 | a0021c0142t0007 | a0021c0142t0007g0096 | 1 | 363 | 0.0028 | 0 | c.368 others(4): Show |
p.Gly others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 29/29 | 3921/5648 | 3686/4035 | 1229/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1956991 | G | A | missense_variant | MODERATE | NA18906.hp1 | a0022 | a0022c0091 | a0022c0091t0003 | a0022c0091t0003g0358 | 1 | 363 | 0.0028 | 0 | c.376 others(4): Show |
p.Asp others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 29/29 | 3998/5648 | 3763/4035 | 1255/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1957188 | G | C | missense_variant | MODERATE | HG00408.hp1 HG00597.hp1 NA18967.hp1 others(3): Show |
a0006a0018 | a0006c0065a0006c0093a0006c0099others(3): Show | a0006c0065t0017a0006c0093t0002a0006c0099t0002others(3): Show | a0006c0065t0017g0125a0006c0093t0002g0197a0006c0099t0002g0087others(3): Show | 6 | 363 | 0.0165 | 0 | c.396 others(4): Show |
p.Arg others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 29/29 | 4195/5648 | 3960/4035 | 1320/1344 | chr8 | TogoVar | ||
ARHGEF10_chr8_1818926_1963641 | 1957201 | C | T | missense_variant | MODERATE | HG00741.hp1 NA18522.hp2 |
a0011 | a0011c0090a0011c0138 | a0011c0090t0011a0011c0138t0011 | a0011c0090t0011g0357a0011c0138t0011g0353 | 2 | 363 | 0.0055 | 0 | c.397 others(4): Show |
p.Pro others(7): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 29/29 | 4208/5648 | 3973/4035 | 1325/1344 | chr8 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156937289 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(295): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0274others(293): Show | 298 | 362 | 0.8232 | 0 | c.440 others(4): Show |
p.His others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 39/41 | 5812/7261 | 4400/4689 | 1467/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156937323 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(148): Show |
a0001a0008 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0272a0001c0001t0001g0273a0001c0001t0001g0274others(148): Show | 151 | 362 | 0.4171 | 0 | c.436 others(4): Show |
p.Ser others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 39/41 | 5778/7261 | 4366/4689 | 1456/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156937340 | G | A | missense_variant | MODERATE | NA18967.hp2 | a0007 | a0007c0012 | a0007c0012t0003 | a0007c0012t0003g0242 | 1 | 362 | 0.0028 | 0 | c.434 others(4): Show |
p.Pro others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 39/41 | 5761/7261 | 4349/4689 | 1450/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156939704 | G | A | missense_variant | MODERATE | HG03669.hp2 | a0008 | a0008c0013 | a0008c0013t0007 | a0008c0013t0007g0144 | 1 | 362 | 0.0028 | 0 | c.394 others(4): Show |
p.Arg others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 37/41 | 5352/7261 | 3940/4689 | 1314/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156939892 | A | C | missense_variant | MODERATE | NA19085.hp1 | a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0234 | 1 | 362 | 0.0028 | 0 | c.375 others(4): Show |
p.Leu others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 37/41 | 5164/7261 | 3752/4689 | 1251/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156941907 | G | A | missense_variant | MODERATE | HG02055.hp1 HG02257.hp2 |
a0005 | a0005c0006 | a0005c0006t0005 | a0005c0006t0005g0022a0005c0006t0005g0023 | 2 | 362 | 0.0055 | 0 | c.340 others(4): Show |
p.Pro others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 34/41 | 4821/7261 | 3409/4689 | 1137/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156941926 | C | T | missense_variant | MODERATE | HG02300.hp2 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0219 | 1 | 362 | 0.0028 | 0 | c.339 others(4): Show |
p.Met others(7): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 34/41 | 4802/7261 | 3390/4689 | 1130/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156948185 | G | A | missense_variant | MODERATE | NA18995.hp2 NA18997.hp1 |
a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0254a0004c0007t0003g0255 | 2 | 362 | 0.0055 | 0 | c.214 others(4): Show |
p.Arg others(6): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 24/41 | 3561/7261 | 2149/4689 | 717/1562 | chr1 | TogoVar | ||
ARHGEF11_chr1_156929840_157050742 | 156969356 | G | A | missense_variant others(1): Show |
MODERATE | HG03098.hp1 | a0010 | a0010c0014 | a0010c0014t0014 | a0010c0014t0014g0205 | 1 | 362 | 0.0028 | 0 | c.751 others(3): Show |
p.Arg others(6): Show |
ARHGEF11 | ENSG00000132694.19 | transcript | ENST00000368194.8 | protein_coding | 10/41 | 2163/7261 | 751/4689 | 251/1562 | chr1 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120429739 | C | T | missense_variant | MODERATE | HG02976.hp2 | a0010 | a0010c0017 | a0010c0017t0010 | a0010c0017t0010g0298 | 1 | 308 | 0.0033 | 0 | c.691 others(3): Show |
p.Pro others(6): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 10/41 | 1522/10326 | 691/4635 | 231/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120431897 | A | G | missense_variant | MODERATE | HG02965.hp1 | a0005 | a0005c0016 | a0005c0016t0032 | a0005c0016t0032g0100 | 1 | 308 | 0.0033 | 0 | c.910 others(3): Show |
p.Ser others(6): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 11/41 | 1741/10326 | 910/4635 | 304/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120440213 | C | T | missense_variant | MODERATE | HG00621.hp1 | a0009 | a0009c0015 | a0009c0015t0004 | a0009c0015t0004g0229 | 1 | 308 | 0.0033 | 0 | c.108 others(4): Show |
p.His others(6): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 13/41 | 1915/10326 | 1084/4635 | 362/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120451664 | A | G | missense_variant | MODERATE | HG02572.hp2 | a0008 | a0008c0014 | a0008c0014t0019 | a0008c0014t0019g0011 | 1 | 308 | 0.0033 | 0 | c.199 others(4): Show |
p.Met others(6): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 22/41 | 2827/10326 | 1996/4635 | 666/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120469351 | A | T | missense_variant | MODERATE | HG02056.hp2 HG02083.hp2 HG02135.hp2 others(23): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0017a0002c0003t0028others(1): Show | a0002c0003t0002g0016a0002c0003t0002g0017a0002c0003t0002g0067others(23): Show | 26 | 308 | 0.0844 | 0 | c.291 others(4): Show |
p.Tyr others(6): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 30/41 | 3749/10326 | 2918/4635 | 973/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120477467 | A | T | missense_variant | MODERATE | NA20905.hp2 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0187 | 1 | 308 | 0.0033 | 0 | c.347 others(4): Show |
p.Asp others(7): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 36/41 | 4304/10326 | 3473/4635 | 1158/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120477485 | A | C | missense_variant | MODERATE | NA19030.hp1 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0293 | 1 | 308 | 0.0033 | 0 | c.349 others(4): Show |
p.Glu others(7): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 36/41 | 4322/10326 | 3491/4635 | 1164/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120478263 | C | G | missense_variant | MODERATE | HG03195.hp2 NA19240.hp2 |
a0004 | a0004c0009 | a0004c0009t0010 | a0004c0009t0010g0276a0004c0009t0010g0299 | 2 | 308 | 0.0065 | 0 | c.364 others(4): Show |
p.Gln others(7): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 37/41 | 4471/10326 | 3640/4635 | 1214/1544 | chr11 | TogoVar | ||
ARHGEF12_chr11_120331413_120494937 | 120480110 | A | G | missense_variant | MODERATE | HG01081.hp1 HG01496.hp2 HG01943.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0002a0003c0005t0001g0159a0003c0005t0001g0165others(3): Show | 7 | 308 | 0.0227 | 0 | c.391 others(4): Show |
p.Tyr others(7): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 38/41 | 4748/10326 | 3917/4635 | 1306/1544 | chr11 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8312106 | C | T | missense_variant | MODERATE | HG00735.hp1 HG01123.hp1 HG01257.hp1 others(7): Show |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0008a0005c0007t0002g0069 | 10 | 428 | 0.0234 | 0 | c.67C others(2): Show |
p.Arg others(5): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 2/16 | 219/4196 | 67/2526 | 23/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8312256 | C | T | missense_variant | MODERATE | HG02055.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0006a0016 | a0006c0008a0016c0024 | a0006c0008t0003a0016c0024t0001 | a0006c0008t0003g0015a0006c0008t0003g0071a0016c0024t0001g0081 | 7 | 428 | 0.0164 | 0 | c.217 others(3): Show |
p.Pro others(5): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 2/16 | 369/4196 | 217/2526 | 73/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8312454 | G | A | missense_variant | MODERATE | HG00642.hp1 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0011 | 1 | 428 | 0.0023 | 0 | c.415 others(3): Show |
p.Ala others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 2/16 | 567/4196 | 415/2526 | 139/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8313035 | C | T | missense_variant | MODERATE | NA18970.hp2 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0001 | 1 | 428 | 0.0023 | 0 | c.715 others(3): Show |
p.Arg others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 3/16 | 867/4196 | 715/2526 | 239/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8313150 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(291): Show |
a0001a0003a0005others(9): Show | a0001c0001a0001c0004a0001c0006others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(123): Show | 294 | 428 | 0.6869 | 0 | c.830 others(3): Show |
p.Leu others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 3/16 | 982/4196 | 830/2526 | 277/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8313185 | G | T | missense_variant | MODERATE | NA19030.hp1 | a0014 | a0014c0020 | a0014c0020t0003 | a0014c0020t0003g0096 | 1 | 428 | 0.0023 | 0 | c.865 others(3): Show |
p.Asp others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 3/16 | 1017/4196 | 865/2526 | 289/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8315228 | C | T | missense_variant | MODERATE | NA18946.hp2 | a0013 | a0013c0027 | a0013c0027t0001 | a0013c0027t0001g0123 | 1 | 428 | 0.0023 | 0 | c.121 others(4): Show |
p.Ala others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 6/16 | 1363/4196 | 1211/2526 | 404/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8315573 | C | T | missense_variant others(1): Show |
MODERATE | HG03471.hp2 | a0012 | a0012c0019 | a0012c0019t0002 | a0012c0019t0002g0094 | 1 | 428 | 0.0023 | 0 | c.142 others(4): Show |
p.Arg others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 7/16 | 1572/4196 | 1420/2526 | 474/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8319321 | G | T | missense_variant | MODERATE | HG02257.hp1 | a0010 | a0010c0026 | a0010c0026t0003 | a0010c0026t0003g0010 | 1 | 428 | 0.0023 | 0 | c.219 others(4): Show |
p.Met others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 14/16 | 2348/4196 | 2196/2526 | 732/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8319552 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00741.hp2 HG01168.hp1 others(2): Show |
a0007 | a0007c0014a0007c0015a0007c0018 | a0007c0014t0003a0007c0015t0003a0007c0018t0002 | a0007c0014t0003g0010a0007c0015t0003g0010a0007c0015t0003g0105others(1): Show | 5 | 428 | 0.0117 | 0 | c.232 others(4): Show |
p.Arg others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 15/16 | 2475/4196 | 2323/2526 | 775/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8319595 | C | A | missense_variant | MODERATE | HG02886.hp1 | a0009 | a0009c0021 | a0009c0021t0003 | a0009c0021t0003g0089 | 1 | 428 | 0.0023 | 0 | c.236 others(4): Show |
p.Thr others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 15/16 | 2518/4196 | 2366/2526 | 789/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8320958 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(256): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0004a0001c0006others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(111): Show | 259 | 428 | 0.6051 | 0 | c.249 others(4): Show |
p.Ser others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 16/16 | 2643/4196 | 2491/2526 | 831/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8320961 | T | C | missense_variant | MODERATE | HG03579.hp2 | a0011 | a0011c0017 | a0011c0017t0002 | a0011c0017t0002g0079 | 1 | 428 | 0.0023 | 0 | c.249 others(4): Show |
p.Ser others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 16/16 | 2646/4196 | 2494/2526 | 832/841 | chr17 | TogoVar | ||
ARHGEF15_chr17_8305241_8327511 | 8320971 | C | A | missense_variant | MODERATE | HG03579.hp2 | a0011 | a0011c0017 | a0011c0017t0002 | a0011c0017t0002g0079 | 1 | 428 | 0.0023 | 0 | c.250 others(4): Show |
p.Thr others(6): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 16/16 | 2656/4196 | 2504/2526 | 835/841 | chr17 | TogoVar |