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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF16_chr1_3449665_3486113 | 3463193 | A | G | missense_variant | MODERATE | HG00558.hp1 NA18747.hp1 |
a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0137a0008c0023t0001g0138 | 2 | 334 | 0.0060 | 0 | c.109 others(3): Show |
p.Met others(5): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 2/15 | 275/2822 | 109/2130 | 37/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3463209 | C | T | missense_variant | MODERATE | HG00438.hp1 | a0009 | a0009c0036 | a0009c0036t0001 | a0009c0036t0001g0143 | 1 | 334 | 0.0030 | 0 | c.125 others(3): Show |
p.Pro others(5): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 2/15 | 291/2822 | 125/2130 | 42/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3463266 | G | A | missense_variant | MODERATE | HG03516.hp1 | a0010 | a0010c0025 | a0010c0025t0012 | a0010c0025t0012g0292 | 1 | 334 | 0.0030 | 0 | c.182 others(3): Show |
p.Arg others(5): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 2/15 | 348/2822 | 182/2130 | 61/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3463493 | G | A | missense_variant | MODERATE | HG01070.hp1 HG01081.hp1 HG01361.hp1 others(27): Show |
a0003a0011 | a0003c0004a0003c0006a0003c0015others(3): Show | a0003c0004t0002a0003c0006t0002a0003c0006t0015others(5): Show | a0003c0004t0002g0007a0003c0004t0002g0066a0003c0004t0002g0067others(23): Show | 30 | 334 | 0.0898 | 0 | c.409 others(3): Show |
p.Val others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 2/15 | 575/2822 | 409/2130 | 137/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3469503 | T | G | missense_variant | MODERATE | HG03927.hp2 NA20905.hp2 |
a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0118a0007c0018t0001g0250 | 2 | 334 | 0.0060 | 0 | c.932 others(3): Show |
p.Leu others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 6/15 | 1098/2822 | 932/2130 | 311/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3469508 | T | C | missense_variant | MODERATE | NA19005.hp1 NA19057.hp2 |
a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0210a0006c0019t0001g0244 | 2 | 334 | 0.0060 | 0 | c.937 others(3): Show |
p.Ser others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 6/15 | 1103/2822 | 937/2130 | 313/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3473163 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
a0001a0005a0006others(6): Show | a0001c0001a0001c0005a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0011a0001c0001t0001g0012others(206): Show | 216 | 334 | 0.6467 | 0 | c.110 others(4): Show |
p.His others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 7/15 | 1274/2822 | 1108/2130 | 370/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3476001 | G | A | missense_variant | MODERATE | NA18991.hp2 | a0014 | a0014c0033 | a0014c0033t0001 | a0014c0033t0001g0255 | 1 | 334 | 0.0030 | 0 | c.141 others(4): Show |
p.Arg others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/15 | 1578/2822 | 1412/2130 | 471/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3478438 | T | C | missense_variant | MODERATE | HG02055.hp2 HG02572.hp2 HG02895.hp1 others(2): Show |
a0005a0015 | a0005c0013a0015c0034 | a0005c0013t0005a0005c0013t0009a0015c0034t0005 | a0005c0013t0005g0279a0005c0013t0005g0280a0005c0013t0005g0281others(2): Show | 5 | 334 | 0.0150 | 0 | c.164 others(4): Show |
p.Met others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 12/15 | 1806/2822 | 1640/2130 | 547/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3478612 | C | T | missense_variant others(1): Show |
MODERATE | HG01243.hp1 | a0013 | a0013c0032 | a0013c0032t0002 | a0013c0032t0002g0017 | 1 | 334 | 0.0030 | 0 | c.181 others(4): Show |
p.Ala others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 12/15 | 1980/2822 | 1814/2130 | 605/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3480498 | G | A | missense_variant | MODERATE | HG00642.hp2 HG01515.hp1 HG02004.hp2 others(2): Show |
a0004 | a0004c0010a0004c0029 | a0004c0010t0002a0004c0029t0002 | a0004c0010t0002g0057a0004c0010t0002g0058a0004c0010t0002g0059others(2): Show | 5 | 334 | 0.0150 | 0 | c.204 others(4): Show |
p.Glu others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 15/15 | 2207/2822 | 2041/2130 | 681/709 | chr1 | TogoVar | ||
ARHGEF16_chr1_3449665_3486113 | 3480534 | G | A | missense_variant | MODERATE | HG02055.hp2 NA18906.hp2 |
a0012a0015 | a0012c0031a0015c0034 | a0012c0031t0002a0015c0034t0005 | a0012c0031t0002g0298a0015c0034t0005g0282 | 2 | 334 | 0.0060 | 0 | c.207 others(4): Show |
p.Val others(6): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 15/15 | 2243/2822 | 2077/2130 | 693/709 | chr1 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73308769 | G | A | missense_variant | MODERATE | HG01071.hp2 | a0020 | a0020c0017 | a0020c0017t0004 | a0020c0017t0004g0097 | 1 | 228 | 0.0044 | 0 | c.131 others(3): Show |
p.Cys others(5): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 494/8163 | 131/6192 | 44/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73308937 | G | A | missense_variant | MODERATE | HG01346.hp2 HG03688.hp1 |
a0008 | a0008c0013 | a0008c0013t0004 | a0008c0013t0004g0095a0008c0013t0004g0096 | 2 | 228 | 0.0088 | 0 | c.299 others(3): Show |
p.Gly others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 662/8163 | 299/6192 | 100/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73308982 | C | T | missense_variant | MODERATE | HG03490.hp1 | a0019 | a0019c0041 | a0019c0041t0016 | a0019c0041t0016g0154 | 1 | 228 | 0.0044 | 0 | c.344 others(3): Show |
p.Ala others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 707/8163 | 344/6192 | 115/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73309030 | A | G | missense_variant | MODERATE | HG03669.hp2 | a0018 | a0018c0039 | a0018c0039t0001 | a0018c0039t0001g0078 | 1 | 228 | 0.0044 | 0 | c.392 others(3): Show |
p.Lys others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 755/8163 | 392/6192 | 131/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73309354 | C | A | missense_variant | MODERATE | HG02055.hp1 HG02647.hp1 |
a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0044a0009c0014t0002g0045 | 2 | 228 | 0.0088 | 0 | c.716 others(3): Show |
p.Ser others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 1079/8163 | 716/6192 | 239/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73309377 | G | A | missense_variant | MODERATE | HG02886.hp1 | a0017 | a0017c0040 | a0017c0040t0001 | a0017c0040t0001g0028 | 1 | 228 | 0.0044 | 0 | c.739 others(3): Show |
p.Ala others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 1102/8163 | 739/6192 | 247/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73309588 | G | C | missense_variant | MODERATE | HG00438.hp2 HG01884.hp1 HG02027.hp1 others(32): Show |
a0003a0009a0016 | a0003c0003a0003c0007a0003c0015others(5): Show | a0003c0003t0002a0003c0003t0004a0003c0003t0011others(7): Show | a0003c0003t0002g0043a0003c0003t0002g0046a0003c0003t0002g0049others(32): Show | 35 | 228 | 0.1535 | 0 | c.950 others(3): Show |
p.Ser others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 1313/8163 | 950/6192 | 317/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73309801 | G | T | missense_variant | MODERATE | HG00140.hp2 HG01167.hp2 HG01255.hp1 others(5): Show |
a0004 | a0004c0005a0004c0038 | a0004c0005t0005a0004c0005t0009a0004c0038t0005 | a0004c0005t0005g0014a0004c0005t0005g0015a0004c0005t0005g0017others(5): Show | 8 | 228 | 0.0351 | 0 | c.116 others(4): Show |
p.Arg others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 1526/8163 | 1163/6192 | 388/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73310373 | G | A | missense_variant | MODERATE | HG00621.hp2 HG02074.hp1 NA18612.hp1 |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0187a0007c0010t0001g0189a0007c0010t0001g0194 | 3 | 228 | 0.0132 | 0 | c.173 others(4): Show |
p.Glu others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 2098/8163 | 1735/6192 | 579/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73310962 | T | C | missense_variant | MODERATE | HG00280.hp1 | a0014 | a0014c0018 | a0014c0018t0001 | a0014c0018t0001g0138 | 1 | 228 | 0.0044 | 0 | c.232 others(4): Show |
p.Met others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 2687/8163 | 2324/6192 | 775/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73310965 | A | G | missense_variant | MODERATE | NA21309.hp2 | a0016 | a0016c0033 | a0016c0033t0002 | a0016c0033t0002g0053 | 1 | 228 | 0.0044 | 0 | c.232 others(4): Show |
p.Asp others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 2690/8163 | 2327/6192 | 776/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73311441 | C | T | missense_variant | MODERATE | NA18965.hp1 | a0013 | a0013c0026 | a0013c0026t0001 | a0013c0026t0001g0070 | 1 | 228 | 0.0044 | 0 | c.280 others(4): Show |
p.Arg others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 3166/8163 | 2803/6192 | 935/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73311474 | A | T | missense_variant | MODERATE | NA18981.hp1 | a0010 | a0010c0025 | a0010c0025t0001 | a0010c0025t0001g0125 | 1 | 228 | 0.0044 | 0 | c.283 others(4): Show |
p.Ser others(6): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 3199/8163 | 2836/6192 | 946/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73311682 | A | T | missense_variant | MODERATE | NA18906.hp1 | a0015 | a0015c0042 | a0015c0042t0002 | a0015c0042t0002g0040 | 1 | 228 | 0.0044 | 0 | c.304 others(4): Show |
p.His others(7): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 3407/8163 | 3044/6192 | 1015/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73311744 | C | G | missense_variant | MODERATE | NA18981.hp1 | a0010 | a0010c0025 | a0010c0025t0001 | a0010c0025t0001g0125 | 1 | 228 | 0.0044 | 0 | c.310 others(4): Show |
p.Pro others(7): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 1/21 | 3469/8163 | 3106/6192 | 1036/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73357119 | G | A | missense_variant | MODERATE | NA18984.hp2 | a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0041 | 1 | 228 | 0.0044 | 0 | c.398 others(4): Show |
p.Arg others(7): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 8/21 | 4349/8163 | 3986/6192 | 1329/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73360507 | C | A | missense_variant | MODERATE | HG02080.hp2 HG02083.hp2 HG02132.hp2 others(1): Show |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0039a0005c0009t0001g0065a0005c0009t0001g0105others(1): Show | 4 | 228 | 0.0175 | 0 | c.439 others(4): Show |
p.Ala others(7): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 11/21 | 4757/8163 | 4394/6192 | 1465/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73365442 | A | T | missense_variant | MODERATE | NA18939.hp1 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0003 | 1 | 228 | 0.0044 | 0 | c.560 others(4): Show |
p.Asp others(7): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 19/21 | 5966/8163 | 5603/6192 | 1868/2063 | chr11 | TogoVar | ||
ARHGEF17_chr11_73303276_73374388 | 73367640 | G | A | missense_variant | MODERATE | HG02622.hp2 HG02965.hp2 HG03516.hp2 |
a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0183a0006c0011t0001g0214a0006c0011t0001g0215 | 3 | 228 | 0.0132 | 0 | c.605 others(4): Show |
p.Ala others(7): Show |
ARHGEF17 | ENSG00000110237.5 | transcript | ENST00000263674.4 | protein_coding | 21/21 | 6415/8163 | 6052/6192 | 2018/2063 | chr11 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7372879 | A | G | missense_variant | MODERATE | HG00408.hp1 HG02040.hp1 HG02040.hp2 others(8): Show |
a0006a0008 | a0006c0008a0008c0010 | a0006c0008t0001a0006c0008t0002a0006c0008t0032others(2): Show | a0006c0008t0001g0160a0006c0008t0002g0281a0006c0008t0002g0282others(8): Show | 11 | 298 | 0.0369 | 0 | c.83A others(2): Show |
p.Gln others(5): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 3/29 | 498/6681 | 83/4086 | 28/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7373026 | G | A | missense_variant | MODERATE | HG02451.hp1 HG03209.hp2 |
a0011 | a0011c0024a0011c0025 | a0011c0024t0015a0011c0025t0005 | a0011c0024t0015g0009a0011c0025t0005g0013 | 2 | 298 | 0.0067 | 0 | c.230 others(3): Show |
p.Arg others(5): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 3/29 | 645/6681 | 230/4086 | 77/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7373044 | C | T | missense_variant | MODERATE | HG02970.hp2 | a0015 | a0015c0057 | a0015c0057t0001 | a0015c0057t0001g0269 | 1 | 298 | 0.0034 | 0 | c.248 others(3): Show |
p.Ser others(5): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 3/29 | 663/6681 | 248/4086 | 83/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7373046 | C | T | missense_variant | MODERATE | HG04228.hp1 | a0034 | a0034c0056 | a0034c0056t0002 | a0034c0056t0002g0179 | 1 | 298 | 0.0034 | 0 | c.250 others(3): Show |
p.Arg others(5): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 3/29 | 665/6681 | 250/4086 | 84/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7373068 | G | A | missense_variant | MODERATE | HG01884.hp1 HG02055.hp2 NA19043.hp2 |
a0012a0016 | a0012c0027a0012c0028a0016c0026 | a0012c0027t0005a0012c0028t0018a0016c0026t0019 | a0012c0027t0005g0025a0012c0028t0018g0045a0016c0026t0019g0046 | 3 | 298 | 0.0101 | 0 | c.272 others(3): Show |
p.Arg others(5): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 3/29 | 687/6681 | 272/4086 | 91/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7375784 | G | A | missense_variant | MODERATE | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(75): Show |
a0002a0005a0006others(12): Show | a0002c0004a0002c0005a0002c0006others(19): Show | a0002c0004t0002a0002c0004t0004a0002c0004t0021others(28): Show | a0002c0004t0002g0044a0002c0004t0002g0050a0002c0004t0002g0222others(75): Show | 78 | 298 | 0.2617 | 0 | c.340 others(3): Show |
p.Ala others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 4/29 | 755/6681 | 340/4086 | 114/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7376739 | C | T | missense_variant | MODERATE | HG02630.hp1 HG02922.hp1 HG03225.hp1 others(3): Show |
a0007a0025 | a0007c0014a0007c0055a0025c0054 | a0007c0014t0004a0007c0055t0004a0025c0054t0001 | a0007c0014t0004g0051a0007c0014t0004g0092a0007c0014t0004g0107others(3): Show | 6 | 298 | 0.0201 | 0 | c.523 others(3): Show |
p.Pro others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 5/29 | 938/6681 | 523/4086 | 175/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7378450 | G | A | missense_variant others(1): Show |
MODERATE | HG02717.hp1 | a0026 | a0026c0029 | a0026c0029t0020 | a0026c0029t0020g0272 | 1 | 298 | 0.0034 | 0 | c.598 others(3): Show |
p.Val others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 6/29 | 1013/6681 | 598/4086 | 200/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7383075 | C | T | missense_variant | MODERATE | HG02486.hp1 | a0024 | a0024c0052 | a0024c0052t0022 | a0024c0052t0022g0267 | 1 | 298 | 0.0034 | 0 | c.839 others(3): Show |
p.Ala others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/29 | 1254/6681 | 839/4086 | 280/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7383105 | G | A | missense_variant | MODERATE | HG00423.hp1 HG01257.hp2 HG01258.hp2 others(5): Show |
a0004 | a0004c0011a0004c0015a0004c0040 | a0004c0011t0003a0004c0015t0003a0004c0040t0002 | a0004c0011t0003g0141a0004c0011t0003g0142a0004c0011t0003g0167others(5): Show | 8 | 298 | 0.0269 | 0 | c.869 others(3): Show |
p.Arg others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/29 | 1284/6681 | 869/4086 | 290/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7383135 | A | G | missense_variant | MODERATE | HG01109.hp1 HG02647.hp2 HG02818.hp2 others(3): Show |
a0005 | a0005c0009a0005c0039 | a0005c0009t0009a0005c0039t0001 | a0005c0009t0009g0061a0005c0009t0009g0067a0005c0009t0009g0068others(3): Show | 6 | 298 | 0.0201 | 0 | c.899 others(3): Show |
p.Gln others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/29 | 1314/6681 | 899/4086 | 300/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7440446 | C | A | missense_variant | MODERATE | HG01934.hp1 HG02145.hp1 HG02895.hp1 |
a0014a0023 | a0014c0020a0023c0041 | a0014c0020t0002a0023c0041t0002 | a0014c0020t0002g0257a0014c0020t0002g0265a0023c0041t0002g0298 | 3 | 298 | 0.0101 | 0 | c.107 others(4): Show |
p.Pro others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 11/29 | 1485/6681 | 1070/4086 | 357/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7440481 | G | A | missense_variant others(1): Show |
MODERATE | HG02976.hp1 | a0033 | a0033c0030 | a0033c0030t0006 | a0033c0030t0006g0255 | 1 | 298 | 0.0034 | 0 | c.110 others(4): Show |
p.Gly others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 11/29 | 1520/6681 | 1105/4086 | 369/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7441715 | A | G | missense_variant | MODERATE | NA18990.hp1 | a0032 | a0032c0038 | a0032c0038t0001 | a0032c0038t0001g0242 | 1 | 298 | 0.0034 | 0 | c.116 others(4): Show |
p.Asp others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 12/29 | 1584/6681 | 1169/4086 | 390/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7441914 | C | T | missense_variant others(1): Show |
MODERATE | HG02976.hp1 | a0033 | a0033c0030 | a0033c0030t0006 | a0033c0030t0006g0255 | 1 | 298 | 0.0034 | 0 | c.122 others(4): Show |
p.Pro others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 13/29 | 1637/6681 | 1222/4086 | 408/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7442050 | A | T | missense_variant others(1): Show |
MODERATE | HG02970.hp2 HG02976.hp1 HG03486.hp1 |
a0015a0017a0033 | a0015c0057a0017c0051a0033c0030 | a0015c0057t0001a0017c0051t0006a0033c0030t0006 | a0015c0057t0001g0269a0017c0051t0006g0256a0033c0030t0006g0255 | 3 | 298 | 0.0101 | 0 | c.135 others(4): Show |
p.Tyr others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 13/29 | 1773/6681 | 1358/4086 | 453/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7447130 | C | G | missense_variant | MODERATE | HG01515.hp1 HG01517.hp2 |
a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0104a0013c0022t0001g0105 | 2 | 298 | 0.0067 | 0 | c.169 others(4): Show |
p.Leu others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/29 | 2114/6681 | 1699/4086 | 567/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7456354 | T | C | missense_variant | MODERATE | NA18989.hp1 | a0027 | a0027c0031 | a0027c0031t0013 | a0027c0031t0013g0036 | 1 | 298 | 0.0034 | 0 | c.213 others(4): Show |
p.Val others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 18/29 | 2547/6681 | 2132/4086 | 711/1361 | chr19 | TogoVar | ||
ARHGEF18_chr19_7343937_7477478 | 7463848 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(251): Show |
a0001a0002a0004others(25): Show | a0001c0001a0001c0002a0001c0013others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(71): Show | a0001c0001t0001g0053a0001c0001t0001g0056a0001c0001t0001g0077others(251): Show | 254 | 298 | 0.8524 | 0 | c.266 others(4): Show |
p.Gln others(6): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 22/29 | 3081/6681 | 2666/4086 | 889/1361 | chr19 | TogoVar |