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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSL5_chr10_112369116_112433376 | 112408502 | C | T | synonymous_variant | LOW | HG02135.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0282 | 1 | 364 | 0.0028 | 0 | c.513 others(3): Show |
p.Ile others(6): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 6/21 | 696/3253 | 513/2052 | 171/683 | chr10 | TogoVar | ||
ACSL5_chr10_112369116_112433376 | 112416935 | G | A | synonymous_variant | LOW | HG02559.hp2 HG03225.hp1 NA19030.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0265a0001c0003t0002g0266a0001c0003t0002g0267others(1): Show | 4 | 364 | 0.0110 | 0 | c.113 others(4): Show |
p.Leu others(6): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 13/21 | 1314/3253 | 1131/2052 | 377/683 | chr10 | TogoVar | ||
ACSL5_chr10_112369116_112433376 | 112425424 | T | C | synonymous_variant | LOW | HG04228.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0167 | 1 | 364 | 0.0028 | 0 | c.168 others(4): Show |
p.Asn others(6): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 18/21 | 1863/3253 | 1680/2052 | 560/683 | chr10 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131962577 | G | A | synonymous_variant | LOW | NA20300.hp1 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0119 | 1 | 326 | 0.0031 | 0 | c.181 others(4): Show |
p.Ser others(6): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 18/21 | 1920/6535 | 1815/2169 | 605/722 | chr5 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131966431 | G | A | synonymous_variant | LOW | HG02572.hp2 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0131a0001c0003t0013g0262 | 2 | 326 | 0.0061 | 0 | c.169 others(4): Show |
p.Ile others(6): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 17/21 | 1803/6535 | 1698/2169 | 566/722 | chr5 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131972835 | T | G | synonymous_variant | LOW | HG03041.hp2 | a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0153 | 1 | 326 | 0.0031 | 0 | c.122 others(4): Show |
p.Pro others(6): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 13/21 | 1332/6535 | 1227/2169 | 409/722 | chr5 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131988096 | C | T | synonymous_variant | LOW | HG01255.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0212 | 1 | 326 | 0.0031 | 0 | c.783 others(3): Show |
p.Glu others(6): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 7/21 | 888/6535 | 783/2169 | 261/722 | chr5 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131988168 | A | G | synonymous_variant | LOW | NA19091.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0211 | 1 | 326 | 0.0031 | 0 | c.711 others(3): Show |
p.His others(6): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 7/21 | 816/6535 | 711/2169 | 237/722 | chr5 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131994067 | C | T | synonymous_variant | LOW | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0037 | 1 | 326 | 0.0031 | 0 | c.234 others(3): Show |
p.Pro others(5): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 2/21 | 339/6535 | 234/2169 | 78/722 | chr5 | TogoVar | ||
ACSL6_chr5_131944973_132016658 | 131994250 | C | T | splice_region_variant others(1): Show |
LOW | NA18945.hp2 NA19078.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093a0001c0002t0001g0094 | 2 | 326 | 0.0061 | 0 | c.51G others(2): Show |
p.Glu others(5): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 2/21 | 156/6535 | 51/2169 | 17/722 | chr5 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20624096 | C | T | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(70): Show |
a0001a0003 | a0001c0003a0001c0007a0003c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0005others(2): Show | a0001c0003t0001g0017a0001c0003t0001g0032a0001c0003t0001g0034others(70): Show | 73 | 318 | 0.2296 | 0 | c.164 others(4): Show |
p.Lys others(6): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 13/14 | 1743/2081 | 1647/1734 | 549/577 | chr16 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20625441 | T | C | synonymous_variant | LOW | HG02055.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0281 | 1 | 318 | 0.0031 | 0 | c.150 others(4): Show |
p.Pro others(6): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 12/14 | 1605/2081 | 1509/1734 | 503/577 | chr16 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20625492 | G | A | synonymous_variant | LOW | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(67): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0005others(1): Show | a0001c0003t0001g0017a0001c0003t0001g0032a0001c0003t0001g0034others(67): Show | 70 | 318 | 0.2201 | 0 | c.145 others(4): Show |
p.Ser others(6): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 12/14 | 1554/2081 | 1458/1734 | 486/577 | chr16 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20627254 | A | T | synonymous_variant | LOW | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(218): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0007a0001c0003t0001others(13): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0018others(216): Show | 221 | 318 | 0.6950 | 0 | c.136 others(4): Show |
p.Gly others(6): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 11/14 | 1458/2081 | 1362/1734 | 454/577 | chr16 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20637380 | G | A | synonymous_variant | LOW | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(124): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0014a0005c0010others(2): Show | a0001c0001t0002a0001c0001t0007a0004c0014t0002others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0018others(122): Show | 127 | 318 | 0.3994 | 0 | c.118 others(4): Show |
p.Tyr others(6): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 9/14 | 1284/2081 | 1188/1734 | 396/577 | chr16 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20669884 | C | T | synonymous_variant | LOW | HG03704.hp2 HG03927.hp1 |
a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0097a0001c0008t0003g0260 | 2 | 318 | 0.0063 | 0 | c.855 others(3): Show |
p.Ala others(6): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/14 | 951/2081 | 855/1734 | 285/577 | chr16 | TogoVar | ||
ACSM1_chr16_20618235_20702680 | 20691024 | T | C | synonymous_variant | LOW | HG02132.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0070 | 1 | 318 | 0.0031 | 0 | c.165 others(3): Show |
p.Val others(5): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/14 | 261/2081 | 165/1734 | 55/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20460120 | T | C | synonymous_variant | LOW | HG01346.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0043 | 1 | 436 | 0.0023 | 0 | c.6T> others(1): Show |
p.His others(4): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2/14 | 175/2894 | 6/1734 | 2/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20460273 | C | T | synonymous_variant | LOW | NA18998.hp1 | a0002 | a0002c0022 | a0002c0022t0003 | a0002c0022t0003g0225 | 1 | 436 | 0.0023 | 0 | c.159 others(3): Show |
p.His others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2/14 | 328/2894 | 159/1734 | 53/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20465567 | G | A | synonymous_variant | LOW | HG02622.hp1 | a0003 | a0003c0023 | a0003c0023t0002 | a0003c0023t0002g0341 | 1 | 436 | 0.0023 | 0 | c.228 others(3): Show |
p.Gly others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3/14 | 397/2894 | 228/1734 | 76/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20475403 | C | T | synonymous_variant | LOW | HG02145.hp1 HG02486.hp2 |
a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0150a0003c0015t0001g0151 | 2 | 436 | 0.0046 | 0 | c.936 others(3): Show |
p.Pro others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 7/14 | 1105/2894 | 936/1734 | 312/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20475711 | C | T | synonymous_variant | LOW | HG02717.hp2 NA18522.hp2 |
a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0064a0001c0017t0001g0065 | 2 | 436 | 0.0046 | 0 | c.103 others(4): Show |
p.Leu others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 8/14 | 1205/2894 | 1036/1734 | 346/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20477374 | A | G | synonymous_variant | LOW | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(245): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0022a0003c0003others(13): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(33): Show | a0002c0002t0002g0199a0002c0002t0002g0204a0002c0002t0002g0219others(218): Show | 248 | 436 | 0.5688 | 0 | c.110 others(4): Show |
p.Leu others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 9/14 | 1273/2894 | 1104/1734 | 368/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20480885 | G | A | synonymous_variant | LOW | HG03704.hp2 | a0003 | a0003c0026 | a0003c0026t0007 | a0003c0026t0007g0170 | 1 | 436 | 0.0023 | 0 | c.147 others(4): Show |
p.Thr others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/14 | 1642/2894 | 1473/1734 | 491/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20483078 | C | A | synonymous_variant | LOW | HG01928.hp2 | a0017 | a0017c0030 | a0017c0030t0031 | a0017c0030t0031g0122 | 1 | 436 | 0.0023 | 0 | c.153 others(4): Show |
p.Val others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/14 | 1699/2894 | 1530/1734 | 510/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20483096 | G | A | synonymous_variant | LOW | HG01928.hp2 | a0017 | a0017c0030 | a0017c0030t0031 | a0017c0030t0031g0122 | 1 | 436 | 0.0023 | 0 | c.154 others(4): Show |
p.Leu others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/14 | 1717/2894 | 1548/1734 | 516/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20486630 | G | A | synonymous_variant | LOW | HG01928.hp2 | a0017 | a0017c0030 | a0017c0030t0031 | a0017c0030t0031g0122 | 1 | 436 | 0.0023 | 0 | c.168 others(4): Show |
p.Lys others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 14/14 | 1855/2894 | 1686/1734 | 562/577 | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20486675 | G | A | synonymous_variant | LOW | HG03225.hp1 | a0020 | a0020c0027 | a0020c0027t0020 | a0020c0027t0020g0280 | 1 | 436 | 0.0023 | 0 | c.173 others(4): Show |
p.Gln others(6): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 14/14 | 1900/2894 | 1731/1734 | 577/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20540717 | C | T | synonymous_variant | LOW | HG01256.hp1 | a0002 | a0002c0029 | a0002c0029t0010 | a0002c0029t0010g0080 | 1 | 388 | 0.0026 | 0 | c.156 others(4): Show |
p.Gln others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/14 | 1735/2935 | 1566/1734 | 522/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20540744 | C | T | synonymous_variant | LOW | HG01074.hp2 HG02965.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0012 | a0001c0012t0002a0001c0012t0007 | a0001c0012t0002g0245a0001c0012t0007g0024a0001c0012t0007g0223others(1): Show | 5 | 388 | 0.0129 | 0 | c.153 others(4): Show |
p.Ser others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/14 | 1708/2935 | 1539/1734 | 513/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20540753 | G | T | synonymous_variant | LOW | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(231): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0001c0012others(17): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(35): Show | a0001c0002t0002g0007a0001c0002t0002g0025a0001c0002t0002g0111others(210): Show | 234 | 388 | 0.6031 | 0 | c.153 others(4): Show |
p.Ile others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/14 | 1699/2935 | 1530/1734 | 510/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20542926 | G | A | synonymous_variant | LOW | HG00673.hp1 HG01256.hp1 HG01257.hp1 others(47): Show |
a0002 | a0002c0003a0002c0009a0002c0019others(1): Show | a0002c0003t0005a0002c0003t0010a0002c0003t0013others(3): Show | a0002c0003t0005g0009a0002c0003t0005g0041a0002c0003t0005g0042others(43): Show | 50 | 388 | 0.1289 | 0 | c.149 others(4): Show |
p.Pro others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/14 | 1666/2935 | 1497/1734 | 499/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20542983 | A | G | synonymous_variant | LOW | HG02055.hp1 | a0003 | a0003c0033 | a0003c0033t0003 | a0003c0033t0003g0174 | 1 | 388 | 0.0026 | 0 | c.144 others(4): Show |
p.Asn others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/14 | 1609/2935 | 1440/1734 | 480/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20543215 | G | A | synonymous_variant | LOW | HG02818.hp2 | a0001 | a0001c0027 | a0001c0027t0003 | a0001c0027t0003g0282 | 1 | 388 | 0.0026 | 0 | c.132 others(4): Show |
p.Leu others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 11/14 | 1498/2935 | 1329/1734 | 443/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20546409 | G | A | synonymous_variant | LOW | HG02922.hp1 | a0005 | a0005c0024 | a0005c0024t0016 | a0005c0024t0016g0334 | 1 | 388 | 0.0026 | 0 | c.116 others(4): Show |
p.Ser others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 9/14 | 1333/2935 | 1164/1734 | 388/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20546469 | T | C | synonymous_variant | LOW | HG03098.hp1 | a0016 | a0016c0028 | a0016c0028t0003 | a0016c0028t0003g0118 | 1 | 388 | 0.0026 | 0 | c.110 others(4): Show |
p.Leu others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 9/14 | 1273/2935 | 1104/1734 | 368/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20548432 | A | G | synonymous_variant | LOW | HG01884.hp2 HG02109.hp1 HG02280.hp1 others(8): Show |
a0001a0006 | a0001c0017a0006c0010 | a0001c0017t0004a0006c0010t0003a0006c0010t0017 | a0001c0017t0004g0026a0001c0017t0004g0268a0006c0010t0003g0011others(6): Show | 11 | 388 | 0.0284 | 0 | c.936 others(3): Show |
p.Pro others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 7/14 | 1105/2935 | 936/1734 | 312/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20555301 | G | A | synonymous_variant | LOW | NA18988.hp1 NA19062.hp2 NA19088.hp2 |
a0002 | a0002c0019 | a0002c0019t0006 | a0002c0019t0006g0067a0002c0019t0006g0070a0002c0019t0006g0090 | 3 | 388 | 0.0077 | 0 | c.564 others(3): Show |
p.Cys others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 4/14 | 733/2935 | 564/1734 | 188/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20559274 | A | T | synonymous_variant | LOW | HG03704.hp1 | a0003 | a0003c0025 | a0003c0025t0003 | a0003c0025t0003g0121 | 1 | 388 | 0.0026 | 0 | c.351 others(3): Show |
p.Pro others(6): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 3/14 | 520/2935 | 351/1734 | 117/577 | chr16 | TogoVar | ||
ACSM2B_chr16_20531226_20581367 | 20564726 | C | A | synonymous_variant | LOW | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(141): Show |
a0001a0003a0007others(4): Show | a0001c0001a0001c0004a0003c0033others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(117): Show | 144 | 388 | 0.3711 | 0 | c.120 others(3): Show |
p.Val others(5): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/14 | 289/2935 | 120/1734 | 40/577 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20770235 | A | G | synonymous_variant | LOW | HG03704.hp2 HG03927.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0094a0006c0007t0001g0095 | 2 | 356 | 0.0056 | 0 | c.201 others(3): Show |
p.Gln others(5): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/14 | 364/2533 | 201/1761 | 67/586 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20777530 | T | C | synonymous_variant | LOW | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(20): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0005a0001c0004t0001g0054a0001c0004t0001g0058others(9): Show | 23 | 356 | 0.0646 | 0 | c.588 others(3): Show |
p.Ile others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/14 | 751/2533 | 588/1761 | 196/586 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20781103 | C | T | synonymous_variant | LOW | HG01891.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0012 | 1 | 356 | 0.0028 | 0 | c.912 others(3): Show |
p.Pro others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 6/14 | 1075/2533 | 912/1761 | 304/586 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20781758 | C | T | synonymous_variant | LOW | HG01099.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0067 | 1 | 356 | 0.0028 | 0 | c.990 others(3): Show |
p.Tyr others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/14 | 1153/2533 | 990/1761 | 330/586 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20786149 | C | T | synonymous_variant | LOW | HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0031 | 2 | 356 | 0.0056 | 0 | c.121 others(4): Show |
p.Phe others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/14 | 1378/2533 | 1215/1761 | 405/586 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20792115 | C | T | synonymous_variant | LOW | HG02486.hp2 HG03471.hp2 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0050 | 2 | 356 | 0.0056 | 0 | c.144 others(4): Show |
p.Val others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 11/14 | 1603/2533 | 1440/1761 | 480/586 | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20792236 | C | T | splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0207 | 1 | 356 | 0.0028 | 0 | c.145 others(4): Show |
p.Gly others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 12/14 | 1618/2533 | 1455/1761 | 485/586 | chr16 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7306685 | C | T | synonymous_variant | LOW | HG03579.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0097 | 1 | 430 | 0.0023 | 0 | c.354 others(3): Show |
p.Ala others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/13 | 614/2349 | 354/1743 | 118/580 | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7306698 | A | C | synonymous_variant | LOW | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(8): Show |
a0001 | a0001c0005a0001c0006 | a0001c0005t0001a0001c0006t0005 | a0001c0005t0001g0012a0001c0005t0001g0129a0001c0006t0005g0035 | 11 | 430 | 0.0256 | 0 | c.367 others(3): Show |
p.Arg others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/13 | 627/2349 | 367/1743 | 123/580 | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7310543 | C | T | synonymous_variant | LOW | NA18986.hp1 NA19065.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0011 | 2 | 430 | 0.0047 | 0 | c.417 others(3): Show |
p.Ile others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 3/13 | 677/2349 | 417/1743 | 139/580 | chr12 | TogoVar |