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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACO2_chr22_41464117_41533974 | 41507854 | C | A | missense_variant | MODERATE | NA18946.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0052 | 1 | 334 | 0.0030 | 0 | c.237 others(3): Show |
p.Ser others(5): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 3/18 | 267/2734 | 237/2343 | 79/780 | chr22 | TogoVar | ||
ACO2_chr22_41464117_41533974 | 41523846 | G | T | missense_variant | MODERATE | NA18995.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0269 | 1 | 334 | 0.0030 | 0 | c.138 others(4): Show |
p.Gly others(6): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 12/18 | 1417/2734 | 1387/2343 | 463/780 | chr22 | TogoVar | ||
ACO2_chr22_41464117_41533974 | 41528548 | G | A | missense_variant | MODERATE | NA18522.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0168 | 1 | 334 | 0.0030 | 0 | c.227 others(4): Show |
p.Glu others(6): Show |
ACO2 | ENSG00000100412.17 | transcript | ENST00000216254.9 | protein_coding | 18/18 | 2308/2734 | 2278/2343 | 760/780 | chr22 | TogoVar | ||
ACOD1_chr13_76943511_76963638 | 76955509 | A | G | missense_variant | MODERATE | HG00735.hp1 HG01099.hp1 HG01109.hp2 others(17): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0001a0002c0012t0001 | a0002c0003t0001g0012a0002c0003t0001g0016a0002c0003t0001g0021others(5): Show | 20 | 434 | 0.0461 | 0 | c.455 others(3): Show |
p.Asn others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 4/5 | 503/2147 | 455/1446 | 152/481 | chr13 | TogoVar | ||
ACOD1_chr13_76943511_76963638 | 76957026 | G | A | missense_variant | MODERATE | HG01516.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0001 | 1 | 434 | 0.0023 | 0 | c.487 others(3): Show |
p.Val others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 5/5 | 535/2147 | 487/1446 | 163/481 | chr13 | TogoVar | ||
ACOD1_chr13_76943511_76963638 | 76957357 | G | A | missense_variant | MODERATE | HG02145.hp1 HG03098.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0054a0003c0006t0001g0055 | 2 | 434 | 0.0046 | 0 | c.818 others(3): Show |
p.Arg others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 5/5 | 866/2147 | 818/1446 | 273/481 | chr13 | TogoVar | ||
ACOD1_chr13_76943511_76963638 | 76957660 | C | T | missense_variant | MODERATE | HG02109.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0081 | 1 | 434 | 0.0023 | 0 | c.112 others(4): Show |
p.Pro others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 5/5 | 1169/2147 | 1121/1446 | 374/481 | chr13 | TogoVar | ||
ACOD1_chr13_76943511_76963638 | 76957858 | A | C | missense_variant | MODERATE | HG02572.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0001 | 1 | 434 | 0.0023 | 0 | c.131 others(4): Show |
p.Lys others(6): Show |
ACOD1 | ENSG00000102794.11 | transcript | ENST00000377462.6 | protein_coding | 5/5 | 1367/2147 | 1319/1446 | 440/481 | chr13 | TogoVar | ||
ACOD1_chr13_76943511_76963638 | 76957944 | A | C | missense_variant | MODERATE | HG03942.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0003 | 1 | 434 | 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 |
a0006a0007 | a0006c0010a0007c0014 | a0006c0010t0001a0006c0010t0002a0006c0010t0011others(1): Show | a0006c0010t0001g0288a0006c0010t0002g0225a0006c0010t0002g0318others(5): Show | 8 | 388 | 0.0206 | 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 | a0009 | a0009c0018 | a0009c0018t0002 | a0009c0018t0002g0025 | 1 | 388 | 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 |
a0003a0007a0010others(1): Show | a0003c0003a0003c0027a0007c0014others(2): Show | a0003c0003t0004a0003c0003t0005a0003c0003t0015others(4): Show | a0003c0003t0004g0276a0003c0003t0005g0071a0003c0003t0005g0086others(39): Show | 42 | 388 | 0.1083 | 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 |
a0002a0004a0008 | a0002c0002a0002c0008a0002c0009others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(17): Show | a0002c0002t0001g0188a0002c0002t0002g0171a0002c0002t0003g0028others(113): Show | 116 | 388 | 0.2990 | 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 |
a0004a0010 | a0004c0004a0010c0025 | a0004c0004t0004a0004c0004t0012a0010c0025t0004 | a0004c0004t0004g0149a0004c0004t0004g0150a0004c0004t0004g0211others(30): Show | 33 | 388 | 0.0851 | 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 |
a0003a0007a0011 | a0003c0003a0003c0027a0007c0014others(1): Show | a0003c0003t0004a0003c0003t0005a0003c0003t0015others(3): Show | a0003c0003t0004g0276a0003c0003t0005g0071a0003c0003t0005g0086others(38): Show | 41 | 388 | 0.1057 | 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 | a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0313 | 1 | 388 | 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 |
a0008 | a0008c0016 | a0008c0016t0004 | a0008c0016t0004g0096a0008c0016t0004g0297 | 2 | 388 | 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 | a0014 | a0014c0020 | a0014c0020t0002 | a0014c0020t0002g0123 | 1 | 388 | 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 |
a0005a0011 | a0005c0005a0005c0011a0011c0026 | a0005c0005t0003a0005c0011t0003a0011c0026t0003 | a0005c0005t0003g0026a0005c0005t0003g0030a0005c0005t0003g0064others(18): Show | 21 | 388 | 0.0541 | 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 | a0003c0003t0001g0009a0003c0003t0004g0011a0003c0003t0004g0198 | 5 | 278 | 0.0180 | 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 | a0002c0002t0001g0006a0002c0002t0001g0076a0002c0002t0001g0141others(25): Show | 30 | 278 | 0.1079 | 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 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0155 | 1 | 278 | 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 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0220 | 1 | 278 | 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 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0134 | 1 | 278 | 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 | a0002c0003t0005g0084a0002c0003t0005g0086a0002c0003t0005g0087 | 3 | 402 | 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 | ||
ACOT4_chr14_73586873_73600766 | 73591964 | C | T | missense_variant | MODERATE | HG00408.hp1 HG02135.hp1 HG02523.hp1 others(4): Show |
a0005 | a0005c0006a0005c0010 | a0005c0006t0001a0005c0010t0001 | a0005c0006t0001g0001a0005c0006t0001g0008a0005c0010t0001g0001 | 7 | 408 | 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 | a0006c0009t0001g0012 | 2 | 408 | 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 | a0007c0014t0001g0049 | 1 | 408 | 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 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(19): Show | 197 | 408 | 0.4828 | 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 | a0004c0005t0001g0010a0004c0005t0001g0017a0004c0005t0001g0043 | 10 | 408 | 0.0245 | 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 | ||
ACOT4_chr14_73586873_73600766 | 73593804 | C | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007a0003c0004t0001g0026a0003c0004t0001g0027others(2): Show | 14 | 408 | 0.0343 | 0 | c.560 others(3): Show |
p.Ala others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 647/1465 | 560/1266 | 187/421 | chr14 | TogoVar | ||
ACOT4_chr14_73586873_73600766 | 73593809 | G | C | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007a0003c0004t0001g0026a0003c0004t0001g0027others(2): Show | 14 | 408 | 0.0343 | 0 | c.565 others(3): Show |
p.Ala others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 652/1465 | 565/1266 | 189/421 | chr14 | TogoVar | ||
ACOT4_chr14_73586873_73600766 | 73593810 | C | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007a0003c0004t0001g0026a0003c0004t0001g0027others(2): Show | 14 | 408 | 0.0343 | 0 | c.566 others(3): Show |
p.Ala others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 653/1465 | 566/1266 | 189/421 | chr14 | TogoVar | ||
ACOT4_chr14_73586873_73600766 | 73593812 | T | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007a0003c0004t0001g0026a0003c0004t0001g0027others(2): Show | 14 | 408 | 0.0343 | 0 | c.568 others(3): Show |
p.Tyr others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 655/1465 | 568/1266 | 190/421 | chr14 | TogoVar | ||
ACOT4_chr14_73586873_73600766 | 73593813 | A | G | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG01069.hp2 others(11): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0007a0003c0004t0001g0026a0003c0004t0001g0027others(2): Show | 14 | 408 | 0.0343 | 0 | c.569 others(3): Show |
p.Tyr others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 2/3 | 656/1465 | 569/1266 | 190/421 | chr14 | TogoVar | ||
ACOT4_chr14_73586873_73600766 | 73595619 | G | C | missense_variant | MODERATE | NA19088.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0015 | 1 | 408 | 0.0025 | 0 | c.123 others(4): Show |
p.Gly others(6): Show |
ACOT4 | ENSG00000177465.5 | transcript | ENST00000326303.5 | protein_coding | 3/3 | 1318/1465 | 1231/1266 | 411/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73612635 | G | A | missense_variant | MODERATE | NA20129.hp2 | a0014 | a0014c0009 | a0014c0009t0001 | a0014c0009t0001g0037 | 1 | 394 | 0.0025 | 0 | c.64G others(2): Show |
p.Ala others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 119/1370 | 64/1266 | 22/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73612689 | G | A | missense_variant | MODERATE | HG02258.hp1 HG03139.hp2 HG03579.hp1 |
a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0041a0008c0007t0001g0061a0008c0007t0001g0062 | 3 | 394 | 0.0076 | 0 | c.118 others(3): Show |
p.Asp others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 173/1370 | 118/1266 | 40/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73612782 | A | C | missense_variant | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(288): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0012others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(76): Show | 291 | 394 | 0.7386 | 0 | c.211 others(3): Show |
p.Ser others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 266/1370 | 211/1266 | 71/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73612782 | A | G | missense_variant | MODERATE | HG00738.hp2 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0092 | 1 | 394 | 0.0025 | 0 | c.211 others(3): Show |
p.Ser others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 266/1370 | 211/1266 | 71/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73612827 | C | A | missense_variant | MODERATE | NA18957.hp2 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0009 | 1 | 394 | 0.0025 | 0 | c.256 others(3): Show |
p.Pro others(5): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 311/1370 | 256/1266 | 86/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73613025 | C | T | missense_variant | MODERATE | HG01433.hp1 HG02129.hp2 HG02602.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0007a0006c0006t0001g0021 | 4 | 394 | 0.0102 | 0 | c.454 others(3): Show |
p.Pro others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 1/3 | 509/1370 | 454/1266 | 152/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73617122 | C | T | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(11): Show |
a0004a0008 | a0004c0004a0008c0007 | a0004c0004t0001a0008c0007t0001 | a0004c0004t0001g0023a0004c0004t0001g0030a0004c0004t0001g0046others(8): Show | 14 | 394 | 0.0355 | 0 | c.590 others(3): Show |
p.Pro others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 2/3 | 645/1370 | 590/1266 | 197/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73617142 | C | T | missense_variant | MODERATE | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(202): Show |
a0001a0007a0010others(2): Show | a0001c0001a0007c0008a0010c0013others(2): Show | a0001c0001t0001a0007c0008t0001a0010c0013t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(41): Show | 205 | 394 | 0.5203 | 0 | c.610 others(3): Show |
p.His others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 2/3 | 665/1370 | 610/1266 | 204/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73617164 | C | T | missense_variant | MODERATE | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(11): Show |
a0004a0008 | a0004c0004a0008c0007 | a0004c0004t0001a0008c0007t0001 | a0004c0004t0001g0023a0004c0004t0001g0030a0004c0004t0001g0046others(8): Show | 14 | 394 | 0.0355 | 0 | c.632 others(3): Show |
p.Ala others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 2/3 | 687/1370 | 632/1266 | 211/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73619423 | A | G | missense_variant | MODERATE | HG02647.hp2 HG03041.hp1 HG03130.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0027a0005c0005t0001g0028a0005c0005t0001g0036 | 5 | 394 | 0.0127 | 0 | c.850 others(3): Show |
p.Ile others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 905/1370 | 850/1266 | 284/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73619495 | C | T | missense_variant | MODERATE | NA18964.hp2 | a0010 | a0010c0013 | a0010c0013t0001 | a0010c0013t0001g0001 | 1 | 394 | 0.0025 | 0 | c.922 others(3): Show |
p.Leu others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 977/1370 | 922/1266 | 308/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73619663 | C | T | missense_variant | MODERATE | HG02886.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0001 | 1 | 394 | 0.0025 | 0 | c.109 others(4): Show |
p.Pro others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 1145/1370 | 1090/1266 | 364/421 | chr14 | TogoVar | ||
ACOT6_chr14_73607517_73624888 | 73619711 | G | A | missense_variant | MODERATE | HG03239.hp1 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0007 | 1 | 394 | 0.0025 | 0 | c.113 others(4): Show |
p.Glu others(6): Show |
ACOT6 | ENSG00000205669.4 | transcript | ENST00000645972.2 | protein_coding | 3/3 | 1193/1370 | 1138/1266 | 380/421 | chr14 | TogoVar | ||
ACOT7_chr1_6259272_6398767 | 6264614 | C | A | missense_variant | MODERATE | HG01891.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0152 | 1 | 240 | 0.0042 | 0 | c.109 others(4): Show |
p.Ala others(6): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 9/9 | 1464/1806 | 1096/1113 | 366/370 | chr1 | TogoVar |