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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA6_chr5_151095706_151162779 | 151103696 | G | C | splice_region_variant others(1): Show |
LOW | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 406 | 0.0025 | 0 | c.184 others(6): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 24/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151129527 | G | T | splice_region_variant others(1): Show |
LOW | NA19066.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0380 | 1 | 406 | 0.0025 | 0 | c.798 others(3): Show |
p.Gly others(6): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 12/26 | 923/2889 | 798/2022 | 266/673 | chr5 | TogoVar | |||
ANXA6_chr5_151095706_151162779 | 151132575 | C | T | splice_region_variant others(1): Show |
LOW | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0346 | 1 | 406 | 0.0025 | 0 | c.641 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 9/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151132576 | G | A | splice_region_variant others(1): Show |
LOW | NA18956.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0224 | 1 | 406 | 0.0025 | 0 | c.641 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 9/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151137326 | G | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0016 others(283): Show |
305 | 406 | 0.7512 | 0 | c.319 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 5/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151138797 | A | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(289): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0046 others(271): Show |
292 | 406 | 0.7192 | 0 | c.205 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 4/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151138798 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(289): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0046 others(271): Show |
292 | 406 | 0.7192 | 0 | c.205 others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 4/25 | chr5 | TogoVar | |||||||
ANXA6_chr5_151095706_151162779 | 151139447 | C | A | missense_variant others(1): Show |
MODERATE | HG01993.hp1 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0219 | 1 | 406 | 0.0025 | 0 | c.110 others(3): Show |
p.Gly others(5): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 4/26 | 235/2889 | 110/2022 | 37/673 | chr5 | TogoVar | |||
ANXA7_chr10_73370101_73419058 | 73387786 | G | GGAA | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(80): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0002t0008a0001c0007t0007 | a0001c0002t0002g0002 a0001c0002t0002g0008 a0001c0002t0002g0009 others(72): Show |
83 | 262 | 0.3168 | 3 | c.539 others(14): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 6/12 | chr10 | TogoVar | |||||||
ANXA8L1_chr10_46370776_46396778 | 46381138 | C | A | splice_region_variant others(1): Show |
LOW | HG01106.hp1 HG01123.hp1 HG01167.hp1 others(14): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0005a0004c0008t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 others(3): Show |
17 | 388 | 0.0438 | 0 | c.113 others(5): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
ANXA8L1_chr10_46370776_46396778 | 46385713 | G | T | splice_region_variant others(1): Show |
LOW | HG02155.hp2 NA18975.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0001 | 2 | 388 | 0.0052 | 0 | c.648 others(3): Show |
p.Val others(6): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 9/12 | 724/1908 | 648/984 | 216/327 | chr10 | TogoVar | |||
ANXA8L1_chr10_46370776_46396778 | 46390863 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(153): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0005a0001c0001t0013a0001c0002t0002others(26): Show | a0001c0001t0005g0050 a0001c0001t0013g0063 a0001c0002t0002g0002 others(80): Show |
156 | 388 | 0.4021 | 0 | c.925 others(5): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 11/11 | chr10 | TogoVar | |||||||
ANXA8_chr10_47462993_47489115 | 47468914 | C | T | splice_region_variant others(1): Show |
LOW | HG02886.hp1 HG02976.hp1 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0014a0002c0004a0002c0024 | a0001c0014t0007a0002c0004t0001a0002c0024t0010 | a0001c0014t0007g0051 a0002c0004t0001g0183 a0002c0024t0010g0077 |
4 | 410 | 0.0098 | 0 | c.925 others(5): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 11/11 | chr10 | TogoVar | |||||||
ANXA8_chr10_47462993_47489115 | 47474398 | C | T | missense_variant others(1): Show |
MODERATE | HG03491.hp2 | a0013 | a0013c0023 | a0013c0023t0002 | a0013c0023t0002g0078 | 1 | 410 | 0.0024 | 0 | c.553 others(3): Show |
p.Asp others(6): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 8/12 | 735/2020 | 553/984 | 185/327 | chr10 | TogoVar | |||
ANXA8_chr10_47462993_47489115 | 47477201 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG02451.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0157 a0001c0001t0001g0158 others(2): Show |
9 | 410 | 0.0220 | 0 | c.208 others(5): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
ANXA9_chr1_150977292_151000634 | 150987874 | A | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(190): Show |
a0001a0003a0006others(5): Show | a0001c0002a0003c0004a0006c0006others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 others(80): Show |
193 | 396 | 0.4874 | 0 | c.615 others(3): Show |
p.Ala others(6): Show |
ANXA9 | ENSG00000143412.10 | transcript | ENST00000368947.9 | protein_coding | 10/14 | 816/1551 | 615/1038 | 205/345 | chr1 | TogoVar | |||
AOAH_chr7_36507941_36729494 | 36576569 | C | T | splice_region_variant others(1): Show |
LOW | HG03041.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0094 |
2 | 304 | 0.0066 | 0 | c.102 others(6): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36621703 | T | C | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0002 | 1 | 304 | 0.0033 | 0 | c.653 others(5): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 8/20 | chr7 | TogoVar | |||||||
AOC3_chr17_42846199_42863124 | 42856277 | T | C | splice_region_variant others(1): Show |
LOW | HG02055.hp2 | a0009 | a0009c0019 | a0009c0019t0004 | a0009c0019t0004g0014 | 1 | 282 | 0.0035 | 0 | c.201 others(4): Show |
p.Asp others(6): Show |
AOC3 | ENSG00000131471.7 | transcript | ENST00000308423.7 | protein_coding | 4/4 | 2164/4011 | 2019/2292 | 673/763 | chr17 | TogoVar | |||
AOPEP_chr9_94721699_95092159 | 95005219 | A | C | missense_variant others(1): Show |
MODERATE | NA18969.hp1 NA18971.hp2 NA18977.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0113 a0005c0005t0001g0114 a0005c0005t0001g0116 others(2): Show |
5 | 180 | 0.0278 | 0 | c.203 others(4): Show |
p.Glu others(6): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 12/17 | 2227/3130 | 2039/2460 | 680/819 | chr9 | TogoVar | |||
AOX1_chr2_200581014_200676495 | 200604009 | C | G | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(105): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0117 a0001c0001t0001g0120 others(103): Show |
108 | 368 | 0.2935 | 0 | c.589 others(5): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 7/34 | chr2 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200605631 | G | A | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01243.hp2 HG02559.hp1 others(5): Show |
a0001a0012a0019 | a0001c0001a0012c0021a0019c0032 | a0001c0001t0001a0012c0021t0001a0019c0032t0001 | a0001c0001t0001g0203 a0001c0001t0001g0255 a0001c0001t0001g0256 others(5): Show |
8 | 368 | 0.0217 | 0 | c.907 others(5): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 10/34 | chr2 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200613804 | G | A | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0352 | 1 | 368 | 0.0027 | 0 | c.144 others(4): Show |
p.Arg others(6): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 15/35 | 1544/4928 | 1449/4017 | 483/1338 | chr2 | TogoVar | |||
AOX1_chr2_200581014_200676495 | 200616069 | C | T | splice_region_variant others(1): Show |
LOW | HG01192.hp2 HG01358.hp2 HG01361.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0070 a0002c0002t0003g0007 a0002c0002t0003g0040 others(10): Show |
13 | 368 | 0.0353 | 0 | c.170 others(6): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 16/34 | chr2 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29339132 | A | T | missense_variant others(1): Show |
MODERATE | HG02080.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0168 | 1 | 376 | 0.0027 | 0 | c.202 others(4): Show |
p.Ile others(6): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 16/23 | 2195/4165 | 2021/2850 | 674/949 | chr22 | TogoVar | |||
AP1G1_chr16_71724000_71813834 | 71733162 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG02523.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0040g0238 |
3 | 318 | 0.0094 | 0 | c.236 others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 22/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71746582 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(119): Show |
122 | 318 | 0.3836 | 0 | c.173 others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 17/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71746696 | T | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(120): Show |
123 | 318 | 0.3868 | 0 | c.162 others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 16/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71764642 | T | C | splice_region_variant others(1): Show |
LOW | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0064 | 1 | 318 | 0.0031 | 0 | c.819 others(5): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 8/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71771257 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(284): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(283): Show |
287 | 318 | 0.9025 | 0 | c.469 others(5): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 4/22 | chr16 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23563861 | C | T | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(38): Show |
a0001a0005a0008others(1): Show | a0001c0001a0005c0009a0008c0012others(1): Show | a0001c0001t0001a0005c0009t0001a0008c0012t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0027 others(7): Show |
41 | 394 | 0.1041 | 0 | c.109 others(6): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/21 | chr14 | TogoVar | |||||||
AP1G2_chr14_23554567_23572791 | 23564142 | GATGTCAG others(11): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00609.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0055 | 1 | 394 | 0.0025 | -18 | c.978 others(27): Show |
p.Arg others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/22 | 1052/2598 | 978/2358 | 326/785 | chr14 | TogoVar | |||
AP1G2_chr14_23554567_23572791 | 23564163 | G | C | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02280.hp1 HG02486.hp1 others(12): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0013 | a0001c0001t0001a0001c0007t0001a0006c0013t0001 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0039 others(5): Show |
15 | 394 | 0.0381 | 0 | c.978 others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 10/21 | chr14 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16234282 | A | G | splice_region_variant others(1): Show |
LOW | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0238 | 1 | 306 | 0.0033 | 0 | c.124 others(6): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 11/11 | chr19 | TogoVar | |||||||
AP1S1_chr7_101149476_101166276 | 101157373 | G | A | splice_region_variant others(1): Show |
LOW | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 430 | 0.0023 | 0 | c.183 others(5): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15845903 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 316 | 0.0032 | 0 | c.288 others(3): Show |
p.Ser others(5): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 3/6 | 414/2128 | 288/483 | 96/160 | chrX | TogoVar | |||
AP2A1_chr19_49762001_49812114 | 49802941 | G | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp2 HG00639.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0022 others(37): Show |
42 | 340 | 0.1235 | 0 | c.211 others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 15/22 | chr19 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49802943 | C | T | splice_region_variant others(1): Show |
LOW | HG02717.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 a0001c0001t0001g0281 |
2 | 340 | 0.0059 | 0 | c.211 others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 15/22 | chr19 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49805661 | G | A | splice_region_variant others(1): Show |
LOW | HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0209 a0001c0004t0001g0302 |
2 | 340 | 0.0059 | 0 | c.246 others(4): Show |
p.Arg others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 20/23 | 2602/3357 | 2469/2868 | 823/955 | chr19 | TogoVar | |||
AP2A2_chr11_920870_1017240 | 992691 | G | T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(123): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(123): Show |
126 | 266 | 0.4737 | 0 | c.145 others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 11/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 993750 | C | G | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0088 a0001c0002t0002g0159 |
2 | 266 | 0.0075 | 0 | c.155 others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 12/21 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 1008008 | G | A | splice_region_variant others(1): Show |
LOW | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 266 | 0.0038 | 0 | c.229 others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 17/21 | chr11 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35598341 | A | T | splice_region_variant others(1): Show |
LOW | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0310 | 1 | 370 | 0.0027 | 0 | c.143 others(5): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35627508 | C | G | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0002g0065 others(62): Show |
66 | 370 | 0.1784 | 0 | c.105 others(6): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 8/21 | chr17 | TogoVar | |||||||
AP2M1_chr3_184169855_184189091 | 184178853 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(179): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(37): Show |
182 | 420 | 0.4333 | 0 | c.75- others(4): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 2/11 | chr3 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46839460 | C | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(159): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(110): Show |
162 | 422 | 0.3839 | 0 | c.267 others(5): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46846147 | G | A | splice_region_variant others(1): Show |
LOW | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 422 | 0.0024 | 0 | c.4-5 others(3): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78015546 | C | T | missense_variant others(1): Show |
MODERATE | HG06807.hp1 | a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0157 | 1 | 224 | 0.0045 | 0 | c.299 others(4): Show |
p.Val others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/27 | 3114/3980 | 2995/3285 | 999/1094 | chr5 | TogoVar | |||
AP3B1_chr5_77997326_78299698 | 78034449 | G | A | splice_region_variant others(1): Show |
LOW | HG02615.hp2 HG03453.hp1 HG03540.hp2 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 |
3 | 224 | 0.0134 | 0 | c.281 others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 23/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78177341 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0012a0003c0007others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(3): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(48): Show |
51 | 224 | 0.2277 | 0 | c.103 others(4): Show |
p.Asn others(6): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 9/27 | 1157/3980 | 1038/3285 | 346/1094 | chr5 | TogoVar |