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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOD1_chr13_76943511_76963638 | 76957944 | A | C | missense_variant | MODERATE | HG03942.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0003 | 1 | 432 | 0.0023 | 0 | c.140 others(4): Show |
p.Asn others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 5/5 | 1453/2147 | 1405/1446 | 469/481 | chr13 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54548340 | C | T | missense_variant others(1): Show |
MODERATE | HG01069.hp1 HG01070.hp2 HG01099.hp1 others(5): Show |
a0005a0006 | a0005c0007a0006c0010 | a0005c0007t0001a0005c0007t0002a0005c0007t0011others(1): Show | a0005c0007t0001g0292 a0005c0007t0002g0225 a0005c0007t0002g0318 others(5): Show |
8 | 386 | 0.0207 | 0 | c.31C others(2): Show |
p.Arg others(5): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/16 | 113/3084 | 31/1785 | 11/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54584680 | G | A | missense_variant | MODERATE | HG00280.hp1 | a0008 | a0008c0014 | a0008c0014t0002 | a0008c0014t0002g0027 | 1 | 386 | 0.0026 | 0 | c.59G others(2): Show |
p.Arg others(5): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 2/16 | 141/3084 | 59/1785 | 20/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54594578 | C | T | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(39): Show |
a0003a0006a0011 | a0003c0003a0003c0021a0006c0010others(1): Show | a0003c0003t0003a0003c0003t0004a0003c0003t0005others(4): Show | a0003c0003t0003g0057 a0003c0003t0004g0274 a0003c0003t0005g0074 others(39): Show |
42 | 386 | 0.1088 | 0 | c.494 others(3): Show |
p.Pro others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 6/16 | 576/3084 | 494/1785 | 165/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54594689 | G | A | missense_variant others(1): Show |
MODERATE | HG00558.hp2 HG00639.hp2 HG00673.hp1 others(113): Show |
a0002a0004a0007 | a0002c0002a0002c0008a0002c0011others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0186 a0002c0002t0002g0172 a0002c0002t0003g0001 others(111): Show |
116 | 386 | 0.3005 | 0 | c.605 others(3): Show |
p.Gly others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 6/16 | 687/3084 | 605/1785 | 202/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54597287 | G | A | missense_variant | MODERATE | HG00673.hp1 HG01952.hp2 HG02027.hp1 others(30): Show |
a0004a0011 | a0004c0004a0011c0020 | a0004c0004t0004a0004c0004t0012a0011c0020t0004 | a0004c0004t0004g0004 a0004c0004t0004g0151 a0004c0004t0004g0152 others(29): Show |
33 | 386 | 0.0855 | 0 | c.636 others(3): Show |
p.Met others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 7/16 | 718/3084 | 636/1785 | 212/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54599307 | G | A | missense_variant | MODERATE | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(38): Show |
a0003a0006 | a0003c0003a0003c0021a0006c0010 | a0003c0003t0003a0003c0003t0004a0003c0003t0005others(3): Show | a0003c0003t0003g0057 a0003c0003t0004g0274 a0003c0003t0005g0074 others(38): Show |
41 | 386 | 0.1062 | 0 | c.776 others(3): Show |
p.Arg others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 8/16 | 858/3084 | 776/1785 | 259/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54601400 | G | C | missense_variant | MODERATE | HG00609.hp2 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0312 | 1 | 386 | 0.0026 | 0 | c.101 others(4): Show |
p.Arg others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 9/16 | 1098/3084 | 1016/1785 | 339/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54602681 | C | T | missense_variant | MODERATE | HG02040.hp2 NA19088.hp1 |
a0007 | a0007c0012 | a0007c0012t0004 | a0007c0012t0004g0098 a0007c0012t0004g0297 |
2 | 386 | 0.0052 | 0 | c.104 others(4): Show |
p.Arg others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 10/16 | 1124/3084 | 1042/1785 | 348/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54607238 | C | T | missense_variant | MODERATE | HG03239.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0125 | 1 | 386 | 0.0026 | 0 | c.147 others(4): Show |
p.Ala others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 14/16 | 1557/3084 | 1475/1785 | 492/594 | chr1 | TogoVar | |||
ACOT11_chr1_54543228_54615329 | 54608046 | G | A | missense_variant | MODERATE | HG01934.hp1 HG01978.hp2 HG02148.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0003a0001c0006t0003a0003c0003t0003 | a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0066 others(18): Show |
21 | 386 | 0.0544 | 0 | c.160 others(4): Show |
p.Arg others(6): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 15/16 | 1689/3084 | 1607/1785 | 536/594 | chr1 | TogoVar | |||
ACOT12_chr5_81324996_81399134 | 81330515 | C | G | missense_variant | MODERATE | HG01243.hp1 HG02145.hp1 HG03471.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0012 a0003c0003t0004g0015 a0003c0003t0004g0195 |
5 | 276 | 0.0181 | 0 | c.154 others(4): Show |
p.Ser others(6): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 15/15 | 1567/2086 | 1547/1668 | 516/555 | chr5 | TogoVar | |||
ACOT12_chr5_81324996_81399134 | 81335823 | C | T | missense_variant | MODERATE | HG01070.hp2 HG01099.hp2 HG01106.hp2 others(27): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0008 a0002c0002t0001g0074 a0002c0002t0001g0138 others(25): Show |
30 | 276 | 0.1087 | 0 | c.120 others(4): Show |
p.Ala others(6): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 12/15 | 1227/2086 | 1207/1668 | 403/555 | chr5 | TogoVar | |||
ACOT12_chr5_81324996_81399134 | 81343841 | T | C | missense_variant | MODERATE | HG02886.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0184 | 1 | 276 | 0.0036 | 0 | c.102 others(4): Show |
p.Ile others(6): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 10/15 | 1041/2086 | 1021/1668 | 341/555 | chr5 | TogoVar | |||
ACOT12_chr5_81324996_81399134 | 81345970 | C | T | missense_variant | MODERATE | HG01361.hp2 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0214 | 1 | 276 | 0.0036 | 0 | c.688 others(3): Show |
p.Val others(6): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 7/15 | 708/2086 | 688/1668 | 230/555 | chr5 | TogoVar | |||
ACOT12_chr5_81324996_81399134 | 81363805 | G | A | missense_variant | MODERATE | HG01243.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0135 | 1 | 276 | 0.0036 | 0 | c.343 others(3): Show |
p.Pro others(6): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 4/15 | 363/2086 | 343/1668 | 115/555 | chr5 | TogoVar | |||
ACOT13_chr6_24662077_24710046 | 24667273 | A | G | missense_variant | MODERATE | HG02055.hp2 HG02145.hp1 NA18522.hp2 |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0085 a0002c0003t0005g0087 a0002c0003t0005g0088 |
3 | 400 | 0.0075 | 0 | c.10A others(2): Show |
p.Met others(4): Show |
ACOT13 | ENSG00000112304.11 | transcript | ENST00000230048.5 | protein_coding | 1/3 | 197/4041 | 10/423 | 4/140 | chr6 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73537426 | C | G | missense_variant | MODERATE | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 152 | 0.0066 | 0 | c.5C> others(1): Show |
p.Ala others(4): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 1/3 | 284/1686 | 5/1266 | 2/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73537797 | G | C | missense_variant | MODERATE | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 152 | 0.0066 | 0 | c.376 others(3): Show |
p.Glu others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 1/3 | 655/1686 | 376/1266 | 126/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73537813 | C | T | missense_variant | MODERATE | HG01496.hp1 HG01884.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 152 | 0.0395 | 0 | c.392 others(3): Show |
p.Pro others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 1/3 | 671/1686 | 392/1266 | 131/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73537843 | C | T | missense_variant | MODERATE | HG02818.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 152 | 0.0132 | 0 | c.422 others(3): Show |
p.Ala others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 1/3 | 701/1686 | 422/1266 | 141/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73541600 | G | A | missense_variant | MODERATE | HG01243.hp2 HG01891.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 152 | 0.0329 | 0 | c.565 others(3): Show |
p.Ala others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 2/3 | 844/1686 | 565/1266 | 189/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73541669 | G | A | missense_variant | MODERATE | HG02698.hp2 HG02717.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 152 | 0.0658 | 0 | c.634 others(3): Show |
p.Val others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 2/3 | 913/1686 | 634/1266 | 212/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73541675 | T | A | missense_variant | MODERATE | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 152 | 0.0066 | 0 | c.640 others(3): Show |
p.Tyr others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 2/3 | 919/1686 | 640/1266 | 214/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73543186 | G | A | missense_variant | MODERATE | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 152 | 0.0066 | 0 | c.797 others(3): Show |
p.Arg others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 3/3 | 1076/1686 | 797/1266 | 266/421 | chr14 | TogoVar | |||
ACOT1_chr14_73532143_73548796 | 73543442 | G | C | missense_variant | MODERATE | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 152 | 0.0066 | 0 | c.105 others(4): Show |
p.Gln others(6): Show |
ACOT1 | ENSG00000184227.8 | transcript | ENST00000311148.9 | protein_coding | 3/3 | 1332/1686 | 1053/1266 | 351/421 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569256 | C | T | missense_variant | MODERATE | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 0 | c.16C others(2): Show |
p.Leu others(4): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 44/1622 | 16/1452 | 6/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569512 | A | G | missense_variant | MODERATE | HG01361.hp1 HG02135.hp2 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 422 | 0.0213 | 0 | c.272 others(3): Show |
p.Glu others(5): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 300/1622 | 272/1452 | 91/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569551 | A | G | missense_variant | MODERATE | HG01243.hp2 HG01891.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 422 | 0.0142 | 0 | c.311 others(3): Show |
p.Lys others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 339/1622 | 311/1452 | 104/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569557 | C | A | missense_variant | MODERATE | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 0 | c.317 others(3): Show |
p.Ala others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 345/1622 | 317/1452 | 106/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569667 | C | T | missense_variant | MODERATE | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 0 | c.427 others(3): Show |
p.Leu others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 455/1622 | 427/1452 | 143/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569773 | C | G | missense_variant | MODERATE | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 0 | c.533 others(3): Show |
p.Pro others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 561/1622 | 533/1452 | 178/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569791 | A | G | missense_variant | MODERATE | HG01106.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 0 | c.551 others(3): Show |
p.Gln others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 579/1622 | 551/1452 | 184/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569793 | A | G | missense_variant | MODERATE | HG01106.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 0 | c.553 others(3): Show |
p.Thr others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 581/1622 | 553/1452 | 185/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73569794 | C | T | missense_variant | MODERATE | HG01106.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 0 | c.554 others(3): Show |
p.Thr others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1/3 | 582/1622 | 554/1452 | 185/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73573408 | A | T | missense_variant | MODERATE | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 0 | c.664 others(3): Show |
p.Ile others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 2/3 | 692/1622 | 664/1452 | 222/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73573432 | G | A | missense_variant | MODERATE | HG01433.hp1 HG02129.hp2 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 422 | 0.0095 | 0 | c.688 others(3): Show |
p.Gly others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 2/3 | 716/1622 | 688/1452 | 230/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73573517 | T | A | missense_variant | MODERATE | NA18940.hp1 NA19007.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 422 | 0.0071 | 0 | c.773 others(3): Show |
p.Leu others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 2/3 | 801/1622 | 773/1452 | 258/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73574921 | G | A | missense_variant | MODERATE | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 0 | c.860 others(3): Show |
p.Gly others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 888/1622 | 860/1452 | 287/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73574981 | T | C | missense_variant | MODERATE | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 0 | c.920 others(3): Show |
p.Leu others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 948/1622 | 920/1452 | 307/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73575044 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(368): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 371 | 422 | 0.8791 | 0 | c.983 others(3): Show |
p.His others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 1011/1622 | 983/1452 | 328/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73575071 | T | C | missense_variant | MODERATE | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 0 | c.101 others(4): Show |
p.Val others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 1038/1622 | 1010/1452 | 337/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73575074 | G | C | missense_variant | MODERATE | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 0 | c.101 others(4): Show |
p.Gly others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 1041/1622 | 1013/1452 | 338/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73575391 | A | G | missense_variant | MODERATE | HG01109.hp2 HG02055.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 422 | 0.0142 | 0 | c.133 others(4): Show |
p.Ile others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 1358/1622 | 1330/1452 | 444/483 | chr14 | TogoVar | |||
ACOT2_chr14_73564213_73580655 | 73575485 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(265): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 268 | 422 | 0.6351 | 0 | c.142 others(4): Show |
p.His others(6): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 3/3 | 1452/1622 | 1424/1452 | 475/483 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73591964 | C | T | missense_variant | MODERATE | HG00408.hp1 HG02135.hp1 HG02523.hp1 others(4): Show |
a0005 | a0005c0006a0005c0010 | a0005c0006t0001a0005c0010t0001 | a0005c0006t0001g0001 a0005c0006t0001g0009 a0005c0010t0001g0001 |
7 | 406 | 0.0172 | 0 | c.5C> others(1): Show |
p.Ser others(4): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 1/3 | 92/1465 | 5/1266 | 2/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73592074 | C | T | missense_variant | MODERATE | HG01891.hp1 HG03139.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0010 | 2 | 406 | 0.0049 | 0 | c.115 others(3): Show |
p.Arg others(5): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 1/3 | 202/1465 | 115/1266 | 39/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73592082 | G | T | missense_variant | MODERATE | HG01884.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0042 | 1 | 406 | 0.0025 | 0 | c.123 others(3): Show |
p.Glu others(5): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 1/3 | 210/1465 | 123/1266 | 41/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73592128 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(194): Show |
a0001a0005 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0013t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(14): Show |
197 | 406 | 0.4852 | 0 | c.169 others(3): Show |
p.Arg others(5): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 1/3 | 256/1465 | 169/1266 | 57/421 | chr14 | TogoVar | |||
ACOT4_chr14_73586873_73600766 | 73593783 | G | C | missense_variant | MODERATE | HG00639.hp2 HG01361.hp2 HG02135.hp2 others(7): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0006 a0004c0005t0001g0022 |
10 | 406 | 0.0246 | 0 | c.539 others(3): Show |
p.Gly others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 626/1465 | 539/1266 | 180/421 | chr14 | TogoVar |