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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATG4B_chr2_241632693_241678857 | 241671323 | T | C | synonymous_variant | LOW | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(98): Show |
a0001a0004 | a0001c0002a0001c0005a0001c0006others(2): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0013others(12): Show | a0001c0002t0003g0008a0001c0002t0003g0018a0001c0002t0003g0019others(89): Show | 101 | 410 | 0.2463 | 0 | c.102 others(4): Show |
p.Leu others(6): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 12/13 | 1048/2797 | 1026/1182 | 342/393 | chr2 | TogoVar | ||
ATG4C_chr1_62779132_62870516 | 62819159 | G | A | synonymous_variant | LOW | HG01081.hp1 HG01257.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007a0001c0002t0002g0009a0001c0002t0002g0146others(6): Show | 11 | 322 | 0.0342 | 0 | c.549 others(3): Show |
p.Gly others(6): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 5/11 | 759/2944 | 549/1377 | 183/458 | chr1 | TogoVar | ||
ATG4C_chr1_62779132_62870516 | 62819243 | T | C | synonymous_variant | LOW | HG03654.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0177 | 1 | 322 | 0.0031 | 0 | c.633 others(3): Show |
p.Leu others(6): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 5/11 | 843/2944 | 633/1377 | 211/458 | chr1 | TogoVar | ||
ATG4C_chr1_62779132_62870516 | 62834807 | C | T | synonymous_variant | LOW | HG02723.hp1 HG02922.hp1 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0245a0001c0003t0002g0246a0001c0003t0002g0247 | 3 | 322 | 0.0093 | 0 | c.104 others(4): Show |
p.Tyr others(6): Show |
ATG4C | ENSG00000125703.15 | transcript | ENST00000317868.9 | protein_coding | 9/11 | 1254/2944 | 1044/1377 | 348/458 | chr1 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10544276 | G | A | synonymous_variant | LOW | NA19067.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001 | 1 | 406 | 0.0025 | 0 | c.186 others(3): Show |
p.Val others(5): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 1/10 | 373/1963 | 186/1425 | 62/474 | chr19 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10548983 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0007 | a0001c0002t0002g0005a0001c0002t0002g0010a0001c0002t0002g0023others(15): Show | 33 | 406 | 0.0813 | 0 | c.915 others(3): Show |
p.Pro others(6): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 6/10 | 1102/1963 | 915/1425 | 305/474 | chr19 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10549013 | C | T | synonymous_variant | LOW | HG03834.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0138 | 1 | 406 | 0.0025 | 0 | c.945 others(3): Show |
p.Pro others(6): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 6/10 | 1132/1963 | 945/1425 | 315/474 | chr19 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10552103 | G | A | synonymous_variant | LOW | NA18946.hp1 NA18968.hp1 NA18970.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008a0001c0003t0003g0057a0001c0003t0003g0058 | 8 | 406 | 0.0197 | 0 | c.110 others(4): Show |
p.Gln others(6): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 8/10 | 1291/1963 | 1104/1425 | 368/474 | chr19 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10552237 | C | T | synonymous_variant | LOW | NA18992.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0009 | 1 | 406 | 0.0025 | 0 | c.115 others(4): Show |
p.Ala others(6): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 9/10 | 1342/1963 | 1155/1425 | 385/474 | chr19 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10552905 | C | G | synonymous_variant | LOW | HG00639.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0131 | 1 | 406 | 0.0025 | 0 | c.126 others(4): Show |
p.Ala others(6): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 10/10 | 1450/1963 | 1263/1425 | 421/474 | chr19 | TogoVar | ||
ATG4D_chr19_10538904_10558418 | 10553019 | G | T | synonymous_variant | LOW | HG01070.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0004 | 1 | 406 | 0.0025 | 0 | c.137 others(4): Show |
p.Arg others(6): Show |
ATG4D | ENSG00000130734.10 | transcript | ENST00000309469.9 | protein_coding | 10/10 | 1564/1963 | 1377/1425 | 459/474 | chr19 | TogoVar | ||
ATG5_chr6_106179476_106330760 | 106279695 | T | C | synonymous_variant | LOW | HG01516.hp2 HG01517.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0011a0001c0003t0002g0012a0001c0003t0002g0013others(3): Show | 6 | 358 | 0.0168 | 0 | c.444 others(3): Show |
p.Lys others(6): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 5/8 | 737/3185 | 444/828 | 148/275 | chr6 | TogoVar | ||
ATG5_chr6_106179476_106330760 | 106316143 | T | C | synonymous_variant | LOW | HG01891.hp1 HG02055.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0011a0001c0003t0002g0012a0001c0003t0002g0013others(1): Show | 4 | 358 | 0.0112 | 0 | c.66A others(2): Show |
p.Leu others(5): Show |
ATG5 | ENSG00000057663.16 | transcript | ENST00000369076.8 | protein_coding | 2/8 | 359/3185 | 66/828 | 22/275 | chr6 | TogoVar | ||
ATG7_chr3_11267397_11562665 | 11342273 | G | A | synonymous_variant | LOW | NA19068.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0094 | 1 | 292 | 0.0034 | 0 | c.111 others(4): Show |
p.Thr others(6): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 13/21 | 1518/5333 | 1119/2112 | 373/703 | chr3 | TogoVar | ||
ATG7_chr3_11267397_11562665 | 11554828 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(73): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(28): Show | a0001c0002t0001g0016a0001c0002t0001g0017a0001c0002t0001g0018others(73): Show | 76 | 292 | 0.2603 | 0 | c.209 others(4): Show |
p.Asp others(6): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 21/21 | 2496/5333 | 2097/2112 | 699/703 | chr3 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219221123 | A | G | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(59): Show | 281 | 348 | 0.8075 | 0 | c.232 others(4): Show |
p.Thr others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 14/16 | 2508/3770 | 2325/2520 | 775/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219222319 | G | A | synonymous_variant | LOW | HG03471.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0063 | 1 | 348 | 0.0029 | 0 | c.198 others(4): Show |
p.Pro others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 12/16 | 2163/3770 | 1980/2520 | 660/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219222439 | A | G | synonymous_variant | LOW | HG02559.hp1 HG02809.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0010 | 5 | 348 | 0.0144 | 0 | c.186 others(4): Show |
p.Leu others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 12/16 | 2043/3770 | 1860/2520 | 620/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219222675 | C | T | synonymous_variant | LOW | HG03688.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0055 | 1 | 348 | 0.0029 | 0 | c.181 others(4): Show |
p.Thr others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 11/16 | 2001/3770 | 1818/2520 | 606/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219222771 | T | C | synonymous_variant | LOW | HG02886.hp2 | a0001 | a0001c0016 | a0001c0016t0020 | a0001c0016t0020g0074 | 1 | 348 | 0.0029 | 0 | c.172 others(4): Show |
p.Thr others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 11/16 | 1905/3770 | 1722/2520 | 574/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219224822 | C | T | synonymous_variant | LOW | NA18939.hp1 NA18941.hp1 NA18946.hp1 others(9): Show |
a0001a0007 | a0001c0004a0007c0011 | a0001c0004t0001a0007c0011t0001 | a0001c0004t0001g0007a0001c0004t0001g0021a0007c0011t0001g0051 | 12 | 348 | 0.0345 | 0 | c.549 others(3): Show |
p.Val others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 8/16 | 732/3770 | 549/2520 | 183/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219224834 | C | T | synonymous_variant | LOW | NA20905.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0070 | 1 | 348 | 0.0029 | 0 | c.537 others(3): Show |
p.Thr others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 8/16 | 720/3770 | 537/2520 | 179/839 | chr2 | TogoVar | ||
ATG9A_chr2_219214380_219234636 | 219225425 | T | C | synonymous_variant | LOW | HG02735.hp1 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0076 | 1 | 348 | 0.0029 | 0 | c.360 others(3): Show |
p.Gln others(6): Show |
ATG9A | ENSG00000198925.12 | transcript | ENST00000361242.9 | protein_coding | 6/16 | 543/3770 | 360/2520 | 120/839 | chr2 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151015902 | A | C | synonymous_variant | LOW | HG02109.hp1 HG02922.hp2 HG02976.hp2 |
a0002 | a0002c0013 | a0002c0013t0001a0002c0013t0005 | a0002c0013t0001g0127a0002c0013t0005g0113a0002c0013t0005g0114 | 3 | 466 | 0.0064 | 0 | c.276 others(4): Show |
p.Thr others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 13/14 | 2840/3423 | 2769/2775 | 923/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016143 | C | T | synonymous_variant | LOW | HG01109.hp2 HG01952.hp1 HG03579.hp2 |
a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0033 | 3 | 466 | 0.0064 | 0 | c.261 others(4): Show |
p.Ser others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 12/14 | 2684/3423 | 2613/2775 | 871/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016443 | G | A | synonymous_variant | LOW | NA18956.hp2 | a0029 | a0029c0035 | a0029c0035t0001 | a0029c0035t0001g0107 | 1 | 466 | 0.0022 | 0 | c.250 others(4): Show |
p.Ile others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 11/14 | 2579/3423 | 2508/2775 | 836/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016446 | G | A | synonymous_variant | LOW | NA18956.hp2 | a0029 | a0029c0035 | a0029c0035t0001 | a0029c0035t0001g0107 | 1 | 466 | 0.0022 | 0 | c.250 others(4): Show |
p.Val others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 11/14 | 2576/3423 | 2505/2775 | 835/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016470 | A | G | synonymous_variant | LOW | NA18956.hp2 | a0029 | a0029c0035 | a0029c0035t0001 | a0029c0035t0001g0107 | 1 | 466 | 0.0022 | 0 | c.248 others(4): Show |
p.Ala others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 11/14 | 2552/3423 | 2481/2775 | 827/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016494 | C | T | synonymous_variant | LOW | NA18956.hp2 | a0029 | a0029c0035 | a0029c0035t0001 | a0029c0035t0001g0107 | 1 | 466 | 0.0022 | 0 | c.245 others(4): Show |
p.Lys others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 11/14 | 2528/3423 | 2457/2775 | 819/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016521 | C | G | synonymous_variant | LOW | NA18956.hp2 | a0029 | a0029c0035 | a0029c0035t0001 | a0029c0035t0001g0107 | 1 | 466 | 0.0022 | 0 | c.243 others(4): Show |
p.Val others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 11/14 | 2501/3423 | 2430/2775 | 810/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151016792 | C | T | synonymous_variant | LOW | NA18975.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0101 | 1 | 466 | 0.0022 | 0 | c.231 others(4): Show |
p.Val others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 10/14 | 2390/3423 | 2319/2775 | 773/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151017075 | G | C | synonymous_variant | LOW | HG01891.hp2 HG02280.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0023 | 6 | 466 | 0.0129 | 0 | c.225 others(4): Show |
p.Pro others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 9/14 | 2321/3423 | 2250/2775 | 750/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151017222 | G | A | synonymous_variant | LOW | NA19030.hp2 NA20129.hp2 |
a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0058 | 2 | 466 | 0.0043 | 0 | c.210 others(4): Show |
p.Asp others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 9/14 | 2174/3423 | 2103/2775 | 701/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151017904 | G | A | synonymous_variant | LOW | HG02723.hp2 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0162 | 1 | 466 | 0.0022 | 0 | c.201 others(4): Show |
p.Ala others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 8/14 | 2090/3423 | 2019/2775 | 673/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151018730 | A | G | synonymous_variant | LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(377): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0007a0001c0033others(36): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(40): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(146): Show | 380 | 466 | 0.8155 | 0 | c.160 others(4): Show |
p.Gly others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 6/14 | 1679/3423 | 1608/2775 | 536/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151018892 | G | A | synonymous_variant | LOW | HG03041.hp1 | a0001 | a0001c0043 | a0001c0043t0001 | a0001c0043t0001g0082 | 1 | 466 | 0.0022 | 0 | c.144 others(4): Show |
p.Ser others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 6/14 | 1517/3423 | 1446/2775 | 482/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151019009 | G | A | synonymous_variant | LOW | HG02155.hp2 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0093 | 1 | 466 | 0.0022 | 0 | c.132 others(4): Show |
p.Ala others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 6/14 | 1400/3423 | 1329/2775 | 443/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151021314 | C | T | synonymous_variant | LOW | NA19064.hp2 | a0003 | a0003c0028 | a0003c0028t0001 | a0003c0028t0001g0171 | 1 | 466 | 0.0022 | 0 | c.837 others(3): Show |
p.Pro others(6): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 5/14 | 908/3423 | 837/2775 | 279/924 | chr7 | TogoVar | ||
ATG9B_chr7_151010151_151029494 | 151024232 | G | A | synonymous_variant | LOW | HG01891.hp2 HG02280.hp2 HG02622.hp1 others(4): Show |
a0001a0021 | a0001c0007a0021c0046 | a0001c0007t0001a0021c0046t0001 | a0001c0007t0001g0023a0021c0046t0001g0179 | 7 | 466 | 0.0150 | 0 | c.192 others(3): Show |
p.Ser others(5): Show |
ATG9B | ENSG00000181652.20 | transcript | ENST00000639579.2 | protein_coding | 1/14 | 263/3423 | 192/2775 | 64/924 | chr7 | TogoVar | ||
ATIC_chr2_215307059_215354764 | 215326009 | T | C | synonymous_variant | LOW | HG01361.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0179 | 1 | 382 | 0.0026 | 0 | c.402 others(3): Show |
p.Ala others(6): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 6/16 | 486/1972 | 402/1779 | 134/592 | chr2 | TogoVar | ||
ATIC_chr2_215307059_215354764 | 215326075 | G | T | synonymous_variant | LOW | NA18970.hp2 | a0002 | a0002c0016 | a0002c0016t0003 | a0002c0016t0003g0011 | 1 | 382 | 0.0026 | 0 | c.468 others(3): Show |
p.Thr others(6): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 6/16 | 552/1972 | 468/1779 | 156/592 | chr2 | TogoVar | ||
ATIC_chr2_215307059_215354764 | 215326890 | C | T | synonymous_variant | LOW | HG01891.hp1 HG02723.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0040 | 2 | 382 | 0.0052 | 0 | c.600 others(3): Show |
p.Gly others(6): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 7/16 | 684/1972 | 600/1779 | 200/592 | chr2 | TogoVar | ||
ATIC_chr2_215307059_215354764 | 215346926 | T | C | synonymous_variant | LOW | HG02809.hp2 HG02970.hp2 HG03225.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0014 | 3 | 382 | 0.0079 | 0 | c.148 others(4): Show |
p.Thr others(6): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 14/16 | 1572/1972 | 1488/1779 | 496/592 | chr2 | TogoVar | ||
ATIC_chr2_215307059_215354764 | 215346932 | C | G | synonymous_variant | LOW | HG00140.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0001 | 1 | 382 | 0.0026 | 0 | c.149 others(4): Show |
p.Thr others(6): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 14/16 | 1578/1972 | 1494/1779 | 498/592 | chr2 | TogoVar | ||
ATIC_chr2_215307059_215354764 | 215349132 | A | G | synonymous_variant | LOW | HG01256.hp2 | a0001 | a0001c0010 | a0001c0010t0008 | a0001c0010t0008g0046 | 1 | 382 | 0.0026 | 0 | c.154 others(4): Show |
p.Glu others(6): Show |
ATIC | ENSG00000138363.15 | transcript | ENST00000236959.14 | protein_coding | 15/16 | 1626/1972 | 1542/1779 | 514/592 | chr2 | TogoVar | ||
ATL1_chr14_50555145_50638045 | 50560295 | T | C | synonymous_variant | LOW | HG02280.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0082 | 1 | 320 | 0.0031 | 0 | c.30T others(2): Show |
p.Ser others(5): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 1/14 | 151/2504 | 30/1677 | 10/558 | chr14 | TogoVar | ||
ATL1_chr14_50555145_50638045 | 50587880 | A | G | synonymous_variant | LOW | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(56): Show |
a0001a0002 | a0001c0003a0002c0013 | a0001c0003t0001a0001c0003t0005a0001c0003t0007others(1): Show | a0001c0003t0001g0003a0001c0003t0001g0004a0001c0003t0001g0005others(52): Show | 59 | 320 | 0.1844 | 0 | c.84A others(2): Show |
p.Pro others(5): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 2/14 | 205/2504 | 84/1677 | 28/558 | chr14 | TogoVar | ||
ATL1_chr14_50555145_50638045 | 50591009 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(248): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(235): Show | 251 | 320 | 0.7844 | 0 | c.351 others(3): Show |
p.Glu others(6): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 3/14 | 472/2504 | 351/1677 | 117/558 | chr14 | TogoVar | ||
ATL1_chr14_50555145_50638045 | 50591066 | T | C | synonymous_variant | LOW | NA18944.hp2 NA18965.hp1 NA19077.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0245a0001c0005t0001g0246a0001c0005t0001g0247 | 3 | 320 | 0.0094 | 0 | c.408 others(3): Show |
p.Asp others(6): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 3/14 | 529/2504 | 408/1677 | 136/558 | chr14 | TogoVar | ||
ATL1_chr14_50555145_50638045 | 50595623 | G | A | synonymous_variant | LOW | HG02976.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0281 | 1 | 320 | 0.0031 | 0 | c.621 others(3): Show |
p.Lys others(6): Show |
ATL1 | ENSG00000198513.14 | transcript | ENST00000358385.12 | protein_coding | 6/14 | 742/2504 | 621/1677 | 207/558 | chr14 | TogoVar |