view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A1BG_chr19_58340183_58358492 | 58347467 | C | T | missense_variant | MODERATE | HG01167.hp1 HG01169.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0028 | 2 | 384 | 0.0052 | 0 | c.136 others(4): Show |
p.Glu others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 7/8 | 1421/3382 | 1366/1488 | 456/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58350378 | T | C | missense_variant | MODERATE | HG00423.hp1 HG00639.hp1 HG01192.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0003 | a0003c0003t0001g0082 a0003c0003t0003g0014 a0003c0003t0003g0085 others(1): Show |
8 | 384 | 0.0208 | 0 | c.118 others(4): Show |
p.His others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/8 | 1239/3382 | 1184/1488 | 395/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58350409 | C | A | missense_variant | MODERATE | HG03486.hp1 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0043 | 1 | 384 | 0.0026 | 0 | c.115 others(4): Show |
p.Gly others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/8 | 1208/3382 | 1153/1488 | 385/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58350430 | C | T | missense_variant | MODERATE | HG02717.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0056 | 1 | 384 | 0.0026 | 0 | c.113 others(4): Show |
p.Asp others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/8 | 1187/3382 | 1132/1488 | 378/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58350472 | T | C | missense_variant | MODERATE | HG02896.hp2 | a0008 | a0008c0008 | a0008c0008t0005 | a0008c0008t0005g0033 | 1 | 384 | 0.0026 | 0 | c.109 others(4): Show |
p.Ile others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 6/8 | 1145/3382 | 1090/1488 | 364/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58352331 | C | G | missense_variant | MODERATE | HG02818.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0050 | 1 | 384 | 0.0026 | 0 | c.565 others(3): Show |
p.Glu others(6): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 4/8 | 620/3382 | 565/1488 | 189/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58352975 | G | A | missense_variant | MODERATE | NA19009.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0089 | 1 | 384 | 0.0026 | 0 | c.293 others(3): Show |
p.Ser others(5): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 3/8 | 348/3382 | 293/1488 | 98/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58353113 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0010a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(63): Show |
319 | 384 | 0.8307 | 0 | c.155 others(3): Show |
p.His others(5): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 3/8 | 210/3382 | 155/1488 | 52/495 | chr19 | TogoVar | |||
A1BG_chr19_58340183_58358492 | 58353131 | G | A | missense_variant | MODERATE | HG01168.hp2 HG01169.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0032 | 2 | 384 | 0.0052 | 0 | c.137 others(3): Show |
p.Thr others(5): Show |
A1BG | ENSG00000121410.12 | transcript | ENST00000263100.8 | protein_coding | 3/8 | 192/3382 | 137/1488 | 46/495 | chr19 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50806851 | C | T | missense_variant | MODERATE | HG00639.hp1 HG02055.hp2 HG02145.hp1 others(9): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0006a0002c0004t0018a0002c0004t0044others(2): Show | a0002c0004t0006g0037 a0002c0004t0006g0210 a0002c0004t0006g0225 others(8): Show |
12 | 336 | 0.0357 | 0 | c.163 others(4): Show |
p.Val others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 13/13 | 1779/9221 | 1639/1761 | 547/586 | chr10 | TogoVar | |||
A1CF_chr10_50794409_50890627 | 50811146 | A | G | missense_variant | MODERATE | NA18970.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0139 | 1 | 336 | 0.0030 | 0 | c.135 others(4): Show |
p.Trp others(6): Show |
A1CF | ENSG00000148584.16 | transcript | ENST00000373997.8 | protein_coding | 11/13 | 1494/9221 | 1354/1761 | 452/586 | chr10 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8823319 | A | T | missense_variant | MODERATE | HG01258.hp2 HG01358.hp1 HG01928.hp2 |
a0012 | a0012c0029a0012c0048 | a0012c0029t0001a0012c0048t0002 | a0012c0029t0001g0006 a0012c0048t0002g0334 |
3 | 366 | 0.0082 | 0 | c.200 others(3): Show |
p.Glu others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 2/36 | 231/5127 | 200/4365 | 67/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8823762 | C | G | missense_variant | MODERATE | HG01081.hp1 | a0023 | a0023c0047 | a0023c0047t0002 | a0023c0047t0002g0081 | 1 | 366 | 0.0027 | 0 | c.289 others(3): Show |
p.Arg others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 3/36 | 320/5127 | 289/4365 | 97/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8835613 | C | T | missense_variant | MODERATE | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(1): Show |
a0013a0025 | a0013c0020a0025c0046 | a0013c0020t0007a0025c0046t0007 | a0013c0020t0007g0017 a0013c0020t0007g0036 a0013c0020t0007g0042 others(1): Show |
4 | 366 | 0.0109 | 0 | c.590 others(3): Show |
p.Thr others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/36 | 621/5127 | 590/4365 | 197/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8835642 | G | C | missense_variant | MODERATE | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(10): Show |
a0007a0011a0030others(1): Show | a0007c0011a0007c0015a0011c0010others(2): Show | a0007c0011t0002a0007c0015t0003a0007c0015t0004others(4): Show | a0007c0011t0002g0043 a0007c0011t0002g0076 a0007c0011t0002g0162 others(10): Show |
13 | 366 | 0.0355 | 0 | c.619 others(3): Show |
p.Gly others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 6/36 | 650/5127 | 619/4365 | 207/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8838391 | T | C | missense_variant | MODERATE | HG01106.hp2 HG01109.hp2 |
a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0247 a0018c0023t0001g0252 |
2 | 366 | 0.0055 | 0 | c.911 others(3): Show |
p.Ile others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 9/36 | 942/5127 | 911/4365 | 304/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8841397 | T | C | missense_variant | MODERATE | HG01884.hp2 HG01952.hp1 HG02257.hp1 others(9): Show |
a0007a0011a0030 | a0007c0011a0007c0015a0011c0010others(1): Show | a0007c0011t0002a0007c0015t0003a0007c0015t0004others(3): Show | a0007c0011t0002g0043 a0007c0011t0002g0076 a0007c0011t0002g0162 others(9): Show |
12 | 366 | 0.0328 | 0 | c.110 others(4): Show |
p.Phe others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 11/36 | 1140/5127 | 1109/4365 | 370/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8843318 | C | T | missense_variant | MODERATE | NA18955.hp2 NA18993.hp2 |
a0021 | a0021c0028 | a0021c0028t0002 | a0021c0028t0002g0066 a0021c0028t0002g0113 |
2 | 366 | 0.0055 | 0 | c.143 others(4): Show |
p.Pro others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | 1464/5127 | 1433/4365 | 478/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8847610 | A | G | missense_variant | MODERATE | HG02922.hp2 HG03579.hp2 |
a0020 | a0020c0027 | a0020c0027t0003 | a0020c0027t0003g0196 a0020c0027t0003g0360 |
2 | 366 | 0.0055 | 0 | c.174 others(4): Show |
p.Gln others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 15/36 | 1776/5127 | 1745/4365 | 582/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8849672 | G | T | missense_variant | MODERATE | HG02622.hp2 | a0028 | a0028c0045 | a0028c0045t0003 | a0028c0045t0003g0130 | 1 | 366 | 0.0027 | 0 | c.203 others(4): Show |
p.Val others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 17/36 | 2063/5127 | 2032/4365 | 678/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8850237 | T | C | missense_variant | MODERATE | NA18989.hp1 | a0032 | a0032c0036 | a0032c0036t0002 | a0032c0036t0002g0110 | 1 | 366 | 0.0027 | 0 | c.219 others(4): Show |
p.Phe others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 18/36 | 2228/5127 | 2197/4365 | 733/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8851789 | C | T | missense_variant | MODERATE | HG00673.hp2 | a0022 | a0022c0058 | a0022c0058t0001 | a0022c0058t0001g0244 | 1 | 366 | 0.0027 | 0 | c.224 others(4): Show |
p.Ser others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2271/5127 | 2240/4365 | 747/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8851792 | G | A | missense_variant | MODERATE | HG00544.hp1 HG03688.hp2 NA18943.hp1 others(4): Show |
a0006 | a0006c0012a0006c0030a0006c0051 | a0006c0012t0001a0006c0030t0001a0006c0051t0002 | a0006c0012t0001g0155 a0006c0012t0001g0169 a0006c0012t0001g0208 others(4): Show |
7 | 366 | 0.0191 | 0 | c.224 others(4): Show |
p.Gly others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2274/5127 | 2243/4365 | 748/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8851801 | C | T | missense_variant | MODERATE | HG02280.hp1 HG02572.hp2 HG03471.hp2 others(2): Show |
a0014a0031a0033 | a0014c0026a0014c0035a0031c0044others(1): Show | a0014c0026t0002a0014c0035t0002a0031c0044t0004others(1): Show | a0014c0026t0002g0021 a0014c0026t0002g0024 a0014c0035t0002g0213 others(2): Show |
5 | 366 | 0.0137 | 0 | c.225 others(4): Show |
p.Ala others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 19/36 | 2283/5127 | 2252/4365 | 751/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8852296 | C | A | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0003others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(338): Show |
349 | 366 | 0.9536 | 0 | c.255 others(4): Show |
p.Asp others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 20/36 | 2581/5127 | 2550/4365 | 850/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8854224 | C | T | missense_variant | MODERATE | HG01952.hp2 | a0024 | a0024c0039 | a0024c0039t0001 | a0024c0039t0001g0200 | 1 | 366 | 0.0027 | 0 | c.268 others(4): Show |
p.Thr others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 21/36 | 2718/5127 | 2687/4365 | 896/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8855563 | A | G | missense_variant | MODERATE | NA19077.hp1 | a0034 | a0034c0055 | a0034c0055t0003 | a0034c0055t0003g0222 | 1 | 366 | 0.0027 | 0 | c.281 others(4): Show |
p.Asp others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/36 | 2850/5127 | 2819/4365 | 940/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8857224 | G | A | missense_variant | MODERATE | HG00099.hp1 HG00639.hp2 HG00733.hp1 others(23): Show |
a0002 | a0002c0004a0002c0007a0002c0021others(1): Show | a0002c0004t0001a0002c0004t0003a0002c0007t0003others(3): Show | a0002c0004t0001g0121 a0002c0004t0003g0080 a0002c0004t0003g0082 others(21): Show |
26 | 366 | 0.0710 | 0 | c.290 others(4): Show |
p.Cys others(6): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 24/36 | 2940/5127 | 2909/4365 | 970/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8860888 | T | C | missense_variant | MODERATE | HG02451.hp2 HG03130.hp1 HG03139.hp1 others(1): Show |
a0001a0016 | a0001c0001a0001c0003a0016c0016 | a0001c0001t0001a0001c0003t0001a0016c0016t0002 | a0001c0001t0001g0025 a0001c0001t0001g0046 a0001c0003t0001g0239 others(1): Show |
4 | 366 | 0.0109 | 0 | c.327 others(4): Show |
p.Val others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 27/36 | 3303/5127 | 3272/4365 | 1091/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8861159 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(183): Show |
a0001a0004a0006others(6): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0057 others(180): Show |
186 | 366 | 0.5082 | 0 | c.336 others(4): Show |
p.Arg others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/36 | 3395/5127 | 3364/4365 | 1122/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8861175 | C | T | missense_variant | MODERATE | HG01168.hp1 HG01169.hp1 HG02717.hp1 others(2): Show |
a0003a0010 | a0003c0022a0010c0018a0010c0054 | a0003c0022t0001a0010c0018t0005a0010c0054t0005 | a0003c0022t0001g0220 a0010c0018t0005g0022 a0010c0018t0005g0023 others(2): Show |
5 | 366 | 0.0137 | 0 | c.338 others(4): Show |
p.Ser others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/36 | 3411/5127 | 3380/4365 | 1127/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8861187 | C | T | missense_variant | MODERATE | HG00738.hp1 HG01891.hp1 HG01891.hp2 others(2): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0009c0013t0001a0009c0013t0006 | a0001c0001t0001g0020 a0009c0013t0001g0125 a0009c0013t0001g0197 others(2): Show |
5 | 366 | 0.0137 | 0 | c.339 others(4): Show |
p.Thr others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 28/36 | 3423/5127 | 3392/4365 | 1131/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8863841 | A | T | missense_variant | MODERATE | HG02970.hp2 | a0030 | a0030c0032 | a0030c0032t0006 | a0030c0032t0006g0163 | 1 | 366 | 0.0027 | 0 | c.355 others(4): Show |
p.Ser others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | 3581/5127 | 3550/4365 | 1184/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8863860 | C | T | missense_variant | MODERATE | HG00639.hp1 HG01243.hp1 HG01934.hp2 others(1): Show |
a0008 | a0008c0014 | a0008c0014t0006 | a0008c0014t0006g0106 a0008c0014t0006g0340 a0008c0014t0006g0341 others(1): Show |
4 | 366 | 0.0109 | 0 | c.356 others(4): Show |
p.Ala others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | 3600/5127 | 3569/4365 | 1190/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8863977 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(338): Show |
349 | 366 | 0.9536 | 0 | c.368 others(4): Show |
p.His others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 29/36 | 3717/5127 | 3686/4365 | 1229/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8867893 | A | G | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(314): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0040 others(307): Show |
317 | 366 | 0.8661 | 0 | c.376 others(4): Show |
p.Met others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3800/5127 | 3769/4365 | 1257/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8867913 | C | G | missense_variant | MODERATE | HG02451.hp1 HG02976.hp2 |
a0019 | a0019c0024 | a0019c0024t0001 | a0019c0024t0001g0091 a0019c0024t0001g0095 |
2 | 366 | 0.0055 | 0 | c.378 others(4): Show |
p.Asn others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3820/5127 | 3789/4365 | 1263/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8867993 | C | A | missense_variant | MODERATE | HG02055.hp2 | a0025 | a0025c0046 | a0025c0046t0007 | a0025c0046t0007g0035 | 1 | 366 | 0.0027 | 0 | c.386 others(4): Show |
p.Thr others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3900/5127 | 3869/4365 | 1290/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8868002 | A | G | missense_variant | MODERATE | HG02895.hp2 | a0029 | a0029c0041 | a0029c0041t0005 | a0029c0041t0005g0359 | 1 | 366 | 0.0027 | 0 | c.387 others(4): Show |
p.Asn others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3909/5127 | 3878/4365 | 1293/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8868004 | G | A | missense_variant | MODERATE | HG02886.hp1 HG03209.hp1 HG03453.hp1 |
a0015 | a0015c0017 | a0015c0017t0004 | a0015c0017t0004g0013 a0015c0017t0004g0194 a0015c0017t0004g0195 |
3 | 366 | 0.0082 | 0 | c.388 others(4): Show |
p.Val others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 30/36 | 3911/5127 | 3880/4365 | 1294/1454 | chr12 | TogoVar | |||
A2ML1_chr12_8817621_8881787 | 8874437 | A | G | missense_variant | MODERATE | HG01168.hp1 HG01169.hp1 HG02572.hp1 others(4): Show |
a0010a0027a0029others(1): Show | a0010c0018a0010c0054a0027c0040others(2): Show | a0010c0018t0005a0010c0054t0005a0027c0040t0005others(2): Show | a0010c0018t0005g0022 a0010c0018t0005g0023 a0010c0018t0005g0037 others(4): Show |
7 | 366 | 0.0191 | 0 | c.423 others(4): Show |
p.Thr others(7): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 34/36 | 4265/5127 | 4234/4365 | 1412/1454 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9069789 | G | A | missense_variant | MODERATE | HG02970.hp2 | a0010 | a0010c0019 | a0010c0019t0002 | a0010c0019t0002g0043 | 1 | 330 | 0.0030 | 0 | c.421 others(4): Show |
p.Arg others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 33/36 | 4289/4610 | 4219/4425 | 1407/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9077417 | C | T | missense_variant | MODERATE | NA19030.hp2 | a0015 | a0015c0020 | a0015c0020t0002 | a0015c0020t0002g0080 | 1 | 330 | 0.0030 | 0 | c.328 others(4): Show |
p.Gly others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 27/36 | 3350/4610 | 3280/4425 | 1094/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9079305 | G | A | missense_variant | MODERATE | HG02273.hp1 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0214 | 1 | 330 | 0.0030 | 0 | c.305 others(4): Show |
p.His others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 25/36 | 3128/4610 | 3058/4425 | 1020/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9079672 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(62): Show |
a0002a0011a0015 | a0002c0002a0002c0010a0011c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0010t0002others(2): Show | a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0002g0004 others(51): Show |
65 | 330 | 0.1970 | 0 | c.299 others(4): Show |
p.Ile others(7): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 24/36 | 3068/4610 | 2998/4425 | 1000/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9080136 | T | C | missense_variant | MODERATE | NA19043.hp1 | a0016 | a0016c0016 | a0016c0016t0002 | a0016c0016t0002g0139 | 1 | 330 | 0.0030 | 0 | c.281 others(4): Show |
p.Asn others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 23/36 | 2882/4610 | 2812/4425 | 938/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9090421 | G | A | missense_variant | MODERATE | HG00735.hp2 HG01515.hp2 HG02602.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0187 a0004c0006t0001g0199 a0004c0006t0001g0204 others(1): Show |
4 | 330 | 0.0121 | 0 | c.253 others(4): Show |
p.Ala others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 20/36 | 2601/4610 | 2531/4425 | 844/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9095637 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(325): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(271): Show |
328 | 330 | 0.9939 | 0 | c.191 others(4): Show |
p.Asn others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 16/36 | 1985/4610 | 1915/4425 | 639/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9098701 | C | T | missense_variant | MODERATE | NA19081.hp1 NA19082.hp2 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0217 a0006c0008t0001g0229 |
2 | 330 | 0.0061 | 0 | c.175 others(4): Show |
p.Arg others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 15/36 | 1827/4610 | 1757/4425 | 586/1474 | chr12 | TogoVar | |||
A2M_chr12_9062708_9120919 | 9101539 | G | T | missense_variant | MODERATE | NA18999.hp2 | a0013 | a0013c0014 | a0013c0014t0002 | a0013c0014t0002g0079 | 1 | 330 | 0.0030 | 0 | c.140 others(4): Show |
p.Leu others(6): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 12/36 | 1472/4610 | 1402/4425 | 468/1474 | chr12 | TogoVar |