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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANGPTL3_chr1_62592520_62611313 | 62604032 | G | A | missense_variant | MODERATE | HG01175.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 366 | 0.0027 | 0 | c.995 others(3): Show |
p.Arg others(6): Show |
ANGPTL3 | ENSG00000132855.5 | transcript | ENST00000371129.4 | protein_coding | 6/7 | 1042/2926 | 995/1383 | 332/460 | chr1 | TogoVar | ||
ANGPTL3_chr1_62592520_62611313 | 62604149 | A | G | missense_variant | MODERATE | HG04228.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0002 | 1 | 366 | 0.0027 | 0 | c.111 others(4): Show |
p.Asn others(6): Show |
ANGPTL3 | ENSG00000132855.5 | transcript | ENST00000371129.4 | protein_coding | 6/7 | 1159/2926 | 1112/1383 | 371/460 | chr1 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8364439 | G | A | missense_variant | MODERATE | HG00733.hp2 HG01099.hp1 HG01167.hp2 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0012 | 4 | 408 | 0.0098 | 0 | c.118 others(3): Show |
p.Glu others(5): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 1/7 | 285/1872 | 118/1221 | 40/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8364444 | G | C | missense_variant | MODERATE | HG01069.hp1 HG01099.hp2 HG01496.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0004a0006c0009t0001g0060 | 3 | 408 | 0.0074 | 0 | c.123 others(3): Show |
p.Met others(5): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 1/7 | 290/1872 | 123/1221 | 41/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8366002 | G | A | missense_variant | MODERATE | NA18947.hp1 NA18990.hp1 NA18999.hp2 others(3): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0002 | 6 | 408 | 0.0147 | 0 | c.367 others(3): Show |
p.Val others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 2/7 | 534/1872 | 367/1221 | 123/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8369239 | G | C | missense_variant | MODERATE | HG02886.hp2 NA19030.hp1 |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0008 | 2 | 408 | 0.0049 | 0 | c.568 others(3): Show |
p.Glu others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 4/7 | 735/1872 | 568/1221 | 190/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8371131 | C | T | missense_variant | MODERATE | HG00642.hp2 | a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0004 | 1 | 408 | 0.0025 | 0 | c.737 others(3): Show |
p.Ala others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 5/7 | 904/1872 | 737/1221 | 246/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8371280 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(73): Show |
a0002a0005a0007 | a0002c0002a0005c0008a0007c0010 | a0002c0002t0001a0002c0002t0009a0005c0008t0001others(1): Show | a0002c0002t0001g0003a0002c0002t0001g0008a0002c0002t0001g0012others(24): Show | 76 | 408 | 0.1863 | 0 | c.797 others(3): Show |
p.Thr others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 6/7 | 964/1872 | 797/1221 | 266/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8371316 | G | A | missense_variant | MODERATE | HG01891.hp1 HG01934.hp1 HG02135.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0011 | a0003c0003t0001g0019a0003c0003t0001g0023a0003c0003t0001g0093others(4): Show | 12 | 408 | 0.0294 | 0 | c.833 others(3): Show |
p.Arg others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 6/7 | 1000/1872 | 833/1221 | 278/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8371453 | G | A | missense_variant | MODERATE | NA19077.hp2 | a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0044 | 1 | 408 | 0.0025 | 0 | c.970 others(3): Show |
p.Val others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 6/7 | 1137/1872 | 970/1221 | 324/406 | chr19 | TogoVar | ||
ANGPTL4_chr19_8359155_8379370 | 8371489 | C | T | missense_variant | MODERATE | HG01255.hp1 | a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0002 | 1 | 408 | 0.0025 | 0 | c.100 others(4): Show |
p.Arg others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 6/7 | 1173/1872 | 1006/1221 | 336/406 | chr19 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101891571 | T | A | missense_variant | MODERATE | HG02071.hp1 HG02155.hp1 |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0056 | 2 | 422 | 0.0047 | 0 | c.875 others(3): Show |
p.Glu others(6): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 9/9 | 1471/2368 | 875/1167 | 292/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101894923 | G | A | missense_variant | MODERATE | HG01109.hp1 HG02257.hp1 HG02615.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0041a0002c0002t0001g0043a0002c0002t0001g0181others(5): Show | 10 | 422 | 0.0237 | 0 | c.803 others(3): Show |
p.Thr others(6): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 8/9 | 1399/2368 | 803/1167 | 268/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101900517 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(417): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0010a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0011others(301): Show | 420 | 422 | 0.9953 | 0 | c.574 others(3): Show |
p.Arg others(6): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 7/9 | 1170/2368 | 574/1167 | 192/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101904850 | G | C | missense_variant | MODERATE | HG03688.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0278 | 1 | 422 | 0.0024 | 0 | c.403 others(3): Show |
p.Leu others(6): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 5/9 | 999/2368 | 403/1167 | 135/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101907108 | A | G | missense_variant | MODERATE | NA19005.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0205 | 1 | 422 | 0.0024 | 0 | c.236 others(3): Show |
p.Met others(5): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 3/9 | 832/2368 | 236/1167 | 79/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101907166 | C | T | missense_variant | MODERATE | HG00408.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0279 | 1 | 422 | 0.0024 | 0 | c.178 others(3): Show |
p.Asp others(5): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 3/9 | 774/2368 | 178/1167 | 60/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101907171 | T | C | missense_variant | MODERATE | HG02027.hp2 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0076 | 1 | 422 | 0.0024 | 0 | c.173 others(3): Show |
p.Lys others(5): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 3/9 | 769/2368 | 173/1167 | 58/388 | chr11 | TogoVar | ||
ANGPTL5_chr11_101885674_101921522 | 101907185 | A | C | missense_variant | MODERATE | NA19010.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0232 | 1 | 422 | 0.0024 | 0 | c.159 others(3): Show |
p.Asn others(5): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 3/9 | 755/2368 | 159/1167 | 53/388 | chr11 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10092642 | C | T | missense_variant | MODERATE | NA19054.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0126 | 1 | 462 | 0.0022 | 0 | c.136 others(4): Show |
p.Gly others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 6/6 | 1481/1785 | 1360/1413 | 454/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10092699 | C | T | missense_variant | MODERATE | NA18967.hp1 NA18972.hp1 NA18974.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015a0002c0002t0001g0042a0002c0002t0001g0090 | 8 | 462 | 0.0173 | 0 | c.130 others(4): Show |
p.Gly others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 6/6 | 1424/1785 | 1303/1413 | 435/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10093460 | C | T | missense_variant | MODERATE | NA19081.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0099 | 1 | 462 | 0.0022 | 0 | c.111 others(4): Show |
p.Asp others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 5/6 | 1232/1785 | 1111/1413 | 371/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10093499 | G | A | missense_variant | MODERATE | NA20805.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0100 | 1 | 462 | 0.0022 | 0 | c.107 others(4): Show |
p.Arg others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 5/6 | 1193/1785 | 1072/1413 | 358/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10093739 | C | T | missense_variant | MODERATE | HG00438.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0116 | 1 | 462 | 0.0022 | 0 | c.905 others(3): Show |
p.Arg others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 4/6 | 1026/1785 | 905/1413 | 302/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10094889 | C | G | missense_variant | MODERATE | HG02818.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0129 | 1 | 462 | 0.0022 | 0 | c.632 others(3): Show |
p.Gly others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3/6 | 753/1785 | 632/1413 | 211/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10096182 | G | C | missense_variant | MODERATE | HG02132.hp2 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0102 | 1 | 462 | 0.0022 | 0 | c.382 others(3): Show |
p.Leu others(6): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 2/6 | 503/1785 | 382/1413 | 128/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10096277 | A | G | missense_variant | MODERATE | HG01261.hp1 HG03831.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0038 | 2 | 462 | 0.0043 | 0 | c.287 others(3): Show |
p.Leu others(5): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 2/6 | 408/1785 | 287/1413 | 96/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10096359 | C | T | missense_variant | MODERATE | NA18982.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0088 | 1 | 462 | 0.0022 | 0 | c.205 others(3): Show |
p.Val others(5): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 2/6 | 326/1785 | 205/1413 | 69/470 | chr19 | TogoVar | ||
ANGPTL6_chr19_10087338_10107678 | 10096406 | G | A | missense_variant | MODERATE | NA18939.hp1 NA18946.hp1 NA18957.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0020a0003c0004t0001g0104 | 4 | 462 | 0.0087 | 0 | c.158 others(3): Show |
p.Thr others(5): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 2/6 | 279/1785 | 158/1413 | 53/470 | chr19 | TogoVar | ||
ANGPTL7_chr1_11184355_11200981 | 11189732 | G | C | missense_variant | MODERATE | HG00558.hp2 HG01123.hp2 HG01361.hp2 others(32): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0005a0002c0003t0008 | a0002c0003t0003g0005a0002c0003t0003g0007a0002c0003t0003g0018others(5): Show | 35 | 364 | 0.0962 | 0 | c.153 others(3): Show |
p.Glu others(5): Show |
ANGPTL7 | ENSG00000171819.5 | transcript | ENST00000376819.4 | protein_coding | 1/5 | 378/2224 | 153/1041 | 51/346 | chr1 | TogoVar | ||
ANGPTL7_chr1_11184355_11200981 | 11189815 | T | A | missense_variant | MODERATE | NA19075.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0002 | 1 | 364 | 0.0028 | 0 | c.236 others(3): Show |
p.Met others(5): Show |
ANGPTL7 | ENSG00000171819.5 | transcript | ENST00000376819.4 | protein_coding | 1/5 | 461/2224 | 236/1041 | 79/346 | chr1 | TogoVar | ||
ANGPTL7_chr1_11184355_11200981 | 11192318 | C | G | missense_variant | MODERATE | NA19078.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0001 | 1 | 364 | 0.0028 | 0 | c.425 others(3): Show |
p.Ser others(6): Show |
ANGPTL7 | ENSG00000171819.5 | transcript | ENST00000376819.4 | protein_coding | 2/5 | 650/2224 | 425/1041 | 142/346 | chr1 | TogoVar | ||
ANGPTL7_chr1_11184355_11200981 | 11195001 | G | A | missense_variant | MODERATE | HG02818.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0002 | 1 | 364 | 0.0028 | 0 | c.101 others(4): Show |
p.Arg others(6): Show |
ANGPTL7 | ENSG00000171819.5 | transcript | ENST00000376819.4 | protein_coding | 5/5 | 1244/2224 | 1019/1041 | 340/346 | chr1 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11239650 | G | A | missense_variant | MODERATE | HG02809.hp1 HG02895.hp2 HG02896.hp2 others(6): Show |
a0003a0010 | a0003c0004a0010c0005 | a0003c0004t0001a0010c0005t0001 | a0003c0004t0001g0003a0010c0005t0001g0017 | 9 | 426 | 0.0211 | 0 | c.13G others(2): Show |
p.Ala others(4): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 1/4 | 32/872 | 13/597 | 5/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11239788 | G | A | missense_variant | MODERATE | HG02257.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0004 | 1 | 426 | 0.0024 | 0 | c.151 others(3): Show |
p.Gly others(5): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 1/4 | 170/872 | 151/597 | 51/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11239812 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(90): Show |
a0002 | a0002c0002a0002c0009a0002c0013 | a0002c0002t0001a0002c0009t0001a0002c0013t0001 | a0002c0002t0001g0001a0002c0002t0001g0003a0002c0002t0001g0006others(5): Show | 93 | 426 | 0.2183 | 0 | c.175 others(3): Show |
p.Arg others(5): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 1/4 | 194/872 | 175/597 | 59/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11240225 | G | A | missense_variant | MODERATE | NA18943.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0002 | 1 | 426 | 0.0024 | 0 | c.388 others(3): Show |
p.Val others(6): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 2/4 | 407/872 | 388/597 | 130/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11240255 | G | A | missense_variant | MODERATE | HG03453.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0001 | 1 | 426 | 0.0024 | 0 | c.418 others(3): Show |
p.Ala others(6): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 2/4 | 437/872 | 418/597 | 140/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11240277 | G | A | missense_variant | MODERATE | HG03579.hp1 | a0010 | a0010c0005 | a0010c0005t0001 | a0010c0005t0001g0017 | 1 | 426 | 0.0024 | 0 | c.440 others(3): Show |
p.Arg others(6): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 2/4 | 459/872 | 440/597 | 147/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11241499 | C | T | missense_variant | MODERATE | HG00408.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0015 | 1 | 426 | 0.0024 | 0 | c.514 others(3): Show |
p.Arg others(6): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 3/4 | 533/872 | 514/597 | 172/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11241508 | C | T | missense_variant | MODERATE | HG02258.hp2 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0004 | 1 | 426 | 0.0024 | 0 | c.523 others(3): Show |
p.Arg others(6): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 3/4 | 542/872 | 523/597 | 175/198 | chr19 | TogoVar | ||
ANGPTL8_chr19_11234619_11246943 | 11241671 | C | T | missense_variant | MODERATE | HG03688.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001 | 1 | 426 | 0.0024 | 0 | c.581 others(3): Show |
p.Ala others(6): Show |
ANGPTL8 | ENSG00000130173.14 | transcript | ENST00000252453.12 | protein_coding | 4/4 | 600/872 | 581/597 | 194/198 | chr19 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693659 | A | G | missense_variant | MODERATE | HG02148.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0001 | 1 | 472 | 0.0021 | 0 | c.95A others(2): Show |
p.His others(5): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 224/748 | 95/444 | 32/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693814 | A | G | missense_variant | MODERATE | HG02976.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0058 | 1 | 472 | 0.0021 | 0 | c.250 others(3): Show |
p.Lys others(5): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 379/748 | 250/444 | 84/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693922 | G | T | missense_variant | MODERATE | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 1 | 472 | 0.0021 | 0 | c.358 others(3): Show |
p.Ala others(6): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 487/748 | 358/444 | 120/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693928 | G | A | missense_variant | MODERATE | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 1 | 472 | 0.0021 | 0 | c.364 others(3): Show |
p.Ala others(6): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 493/748 | 364/444 | 122/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693929 | C | A | missense_variant | MODERATE | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 1 | 472 | 0.0021 | 0 | c.365 others(3): Show |
p.Ala others(6): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 494/748 | 365/444 | 122/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693931 | G | A | missense_variant | MODERATE | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 1 | 472 | 0.0021 | 0 | c.367 others(3): Show |
p.Gly others(6): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 496/748 | 367/444 | 123/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693932 | G | A | missense_variant | MODERATE | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 1 | 472 | 0.0021 | 0 | c.368 others(3): Show |
p.Gly others(6): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 497/748 | 368/444 | 123/147 | chr14 | TogoVar | ||
ANG_chr14_20683764_20699183 | 20693934 | T | A | missense_variant | MODERATE | HG00741.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0008 | 1 | 472 | 0.0021 | 0 | c.370 others(3): Show |
p.Phe others(6): Show |
ANG | ENSG00000214274.10 | transcript | ENST00000397990.5 | protein_coding | 2/2 | 499/748 | 370/444 | 124/147 | chr14 | TogoVar |