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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM2A_chr16_20446521_20492669 | 20462828 | C | CA | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG02896.hp1 others(5): Show |
a0003a0004 | a0003c0010a0004c0014 | a0003c0010t0001a0003c0010t0006a0004c0014t0001 | a0003c0010t0001g0158 a0003c0010t0001g0159 a0003c0010t0001g0161 others(5): Show |
8 | 436 | 0.0184 | 1 | c.177 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20462982 | C | CA | intron_variant | MODIFIER | HG01175.hp1 HG02897.hp1 NA18975.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0010a0005c0005t0001 | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0010g0044 others(1): Show |
4 | 436 | 0.0092 | 1 | c.178 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20469872 | A | AT | intron_variant | MODIFIER | HG00621.hp2 HG01261.hp2 HG01361.hp2 others(6): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0004a0005c0005t0001others(2): Show | a0001c0001t0001g0058 a0001c0001t0001g0129 a0001c0001t0004g0021 others(5): Show |
9 | 436 | 0.0206 | 1 | c.596 others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20475051 | A | AG | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG01433.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(2): Show |
5 | 436 | 0.0115 | 1 | c.895 others(16): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20480611 | C | CT | frameshift_variant | HIGH | NA19062.hp2 | a0020 | a0020c0028 | a0020c0028t0002 | a0020c0028t0002g0293 | 1 | 436 | 0.0023 | 1 | c.132 others(5): Show |
p.Trp others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 11/14 | 1494/2894 | 1325/1734 | 442/577 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20480824 | A | AC | frameshift_variant | HIGH | NA19062.hp2 | a0020 | a0020c0028 | a0020c0028t0002 | a0020c0028t0002g0293 | 1 | 436 | 0.0023 | 1 | c.141 others(5): Show |
p.Arg others(5): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/14 | 1584/2894 | 1415/1734 | 472/577 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM2A_chr16_20446521_20492669 | 20481474 | A | AG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp1 others(70): Show |
a0001a0003a0004others(9): Show | a0001c0001a0003c0003a0004c0004others(9): Show | a0001c0001t0006a0003c0003t0002a0003c0003t0003others(13): Show | a0001c0001t0006g0090 a0003c0003t0002g0277 a0003c0003t0002g0282 others(64): Show |
73 | 436 | 0.1674 | 1 | c.150 others(18): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20482134 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG02055.hp1 HG02056.hp2 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0003others(8): Show | a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0006g0090 others(20): Show |
24 | 436 | 0.0551 | 1 | c.151 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20482170 | G | GA | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02886.hp1 others(3): Show |
a0003 | a0003c0003a0003c0010 | a0003c0003t0002a0003c0010t0001 | a0003c0003t0002g0272 a0003c0003t0002g0345 a0003c0003t0002g0371 others(3): Show |
6 | 436 | 0.0138 | 1 | c.151 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483287 | T | TG | intron_variant | MODIFIER | HG01928.hp2 HG02055.hp1 HG02109.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0006a0002c0002t0007a0003c0003t0007others(8): Show | a0001c0001t0006g0090 a0002c0002t0007g0241 a0003c0003t0007g0011 others(16): Show |
22 | 436 | 0.0505 | 1 | c.162 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | C | CA | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG02071.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0010a0002c0002t0003a0002c0002t0009others(5): Show | a0001c0001t0010g0048 a0002c0002t0003g0197 a0002c0002t0003g0224 others(12): Show |
16 | 436 | 0.0367 | 1 | c.162 others(9): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20490035 | C | CA | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00741.hp2 HG01258.hp1 others(58): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(18): Show | a0001c0001t0001g0066 a0001c0001t0001g0128 a0001c0001t0004g0021 others(55): Show |
61 | 436 | 0.1399 | 1 | c.*33 others(12): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2367 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20490044 | A | AG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0017a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0024a0001c0001t0025others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(133): Show |
156 | 436 | 0.3578 | 1 | c.*33 others(12): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 2376 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20490813 | A | AT | downstream_gene_variant | MODIFIER | HG02965.hp1 HG02970.hp1 HG03225.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0007a0003c0003t0012 | a0003c0003t0007g0011 a0003c0003t0007g0249 a0003c0003t0012g0171 others(1): Show |
6 | 436 | 0.0138 | 1 | c.*41 others(12): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 3145 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20539399 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(286): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(28): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(52): Show | a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0015 others(259): Show |
289 | 388 | 0.7449 | 1 | c.162 others(10): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20540224 | G | GT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00673.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(13): Show | a0001c0001t0001g0168 a0001c0002t0002g0233 a0001c0002t0002g0234 others(57): Show |
65 | 388 | 0.1675 | 1 | c.162 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20540233 | T | TG | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00673.hp2 others(64): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0004a0001c0012others(6): Show | a0001c0002t0002a0001c0004t0002a0001c0012t0002others(7): Show | a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0222 others(58): Show |
67 | 388 | 0.1727 | 1 | c.162 others(18): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20540250 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0004others(13): Show | a0001c0001t0003g0181 a0001c0002t0002g0111 a0001c0002t0002g0233 others(59): Show |
70 | 388 | 0.1804 | 1 | c.162 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 13/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20541684 | T | TC | intron_variant | MODIFIER | HG02630.hp2 HG03209.hp1 HG03540.hp2 others(2): Show |
a0003a0005a0006others(1): Show | a0003c0008a0005c0011a0006c0020others(1): Show | a0003c0008t0003a0005c0011t0026a0006c0020t0003others(2): Show | a0003c0008t0003g0122 a0005c0011t0026g0327 a0006c0020t0003g0105 others(2): Show |
5 | 388 | 0.0129 | 1 | c.151 others(18): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20549998 | A | AT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(145): Show |
a0001a0003a0007others(6): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(121): Show |
148 | 388 | 0.3814 | 1 | c.895 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20555024 | T | TA | intron_variant | MODIFIER | HG02602.hp2 HG02698.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0134 a0001c0004t0002g0137 a0001c0004t0002g0141 |
3 | 388 | 0.0077 | 1 | c.596 others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20555107 | G | GA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(249): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(218): Show |
252 | 388 | 0.6495 | 1 | c.596 others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20561684 | C | CT | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001a0003a0014 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0003a0001c0002t0003a0003c0007t0003others(1): Show | a0001c0001t0003g0177 a0001c0002t0003g0012 a0003c0007t0003g0119 others(2): Show |
6 | 388 | 0.0155 | 1 | c.178 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20561968 | G | GT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(365): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(322): Show |
368 | 388 | 0.9485 | 1 | c.178 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20564824 | G | GA | frameshift_variant | HIGH | NA18972.hp1 | a0016 | a0016c0034 | a0016c0034t0003 | a0016c0034t0003g0142 | 1 | 388 | 0.0026 | 1 | c.21d others(3): Show |
p.Gln others(3): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/14 | 190/2935 | 21/1734 | 7/577 | chr16 | TogoVar | |||
ACSM2B_chr16_20531226_20581367 | 20566115 | T | TA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(243): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(213): Show |
246 | 388 | 0.6340 | 1 | c.-8- others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566640 | A | AC | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0006a0006c0010others(3): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(5): Show | a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0006t0011g0110 others(13): Show |
17 | 388 | 0.0438 | 1 | c.-8- others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566658 | A | AC | intron_variant | MODIFIER | HG01361.hp2 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 |
3 | 388 | 0.0077 | 1 | c.-8- others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566658 | A | AG | intron_variant | MODIFIER | HG00673.hp1 HG01256.hp1 HG01257.hp1 others(45): Show |
a0002 | a0002c0003a0002c0009a0002c0018others(2): Show | a0002c0003t0005a0002c0003t0010a0002c0003t0013others(4): Show | a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 others(43): Show |
48 | 388 | 0.1237 | 1 | c.-8- others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566659 | T | TA | intron_variant | MODIFIER | NA18950.hp1 NA18977.hp2 NA18989.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022 a0001c0001t0001g0158 a0001c0001t0001g0168 others(5): Show |
8 | 388 | 0.0206 | 1 | c.-8- others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566680 | T | TC | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(107): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0004a0003c0033others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(87): Show |
110 | 388 | 0.2835 | 1 | c.-8- others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20572974 | A | AT | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01256.hp1 others(68): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0006a0002c0003others(8): Show | a0001c0002t0002a0001c0002t0003a0001c0006t0011others(13): Show | a0001c0002t0002g0111 a0001c0002t0003g0112 a0001c0002t0003g0262 others(63): Show |
71 | 388 | 0.1830 | 1 | c.-9+ others(8): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20759559 | C | CA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01074.hp1 others(29): Show |
a0001a0004a0011 | a0001c0001a0001c0017a0004c0014others(1): Show | a0001c0001t0001a0001c0017t0001a0004c0014t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(23): Show |
32 | 356 | 0.0899 | 1 | c.-46 others(12): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4454 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20762271 | G | GA | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG02083.hp1 others(6): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0001 | a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0194 others(5): Show |
9 | 356 | 0.0253 | 1 | c.-19 others(12): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1742 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20767516 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(71): Show |
a0001a0008a0010others(1): Show | a0001c0001a0008c0019a0010c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0008c0019t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0017 others(43): Show |
74 | 356 | 0.2079 | 1 | c.-51 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20771371 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(97): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0017others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0017t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(51): Show |
100 | 356 | 0.2809 | 1 | c.219 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20772967 | C | CA | intron_variant | MODIFIER | HG01175.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0009 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0117 a0001c0001t0001g0129 others(3): Show |
7 | 356 | 0.0197 | 1 | c.219 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20774239 | C | CT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0013t0001others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0032 others(31): Show |
55 | 356 | 0.1545 | 1 | c.220 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20774279 | G | GT | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03195.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0048 a0004c0005t0001g0198 a0004c0005t0001g0202 |
4 | 356 | 0.0112 | 1 | c.220 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20778757 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0056 others(6): Show |
16 | 356 | 0.0449 | 1 | c.638 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20779425 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(79): Show |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0001a0001c0001t0005a0008c0019t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(42): Show |
82 | 356 | 0.2303 | 1 | c.639 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20781100 | A | AC | frameshift_variant | HIGH | NA19006.hp2 | a0012 | a0012c0011 | a0012c0011t0001 | a0012c0011t0001g0088 | 1 | 356 | 0.0028 | 1 | c.913 others(4): Show |
p.Arg others(5): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 6/14 | 1077/2533 | 914/1761 | 305/586 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM3_chr16_20759014_20802581 | 20783812 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(193): Show |
325 | 356 | 0.9129 | 1 | c.102 others(10): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20789684 | C | CT | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01175.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0013t0001a0002c0002t0001 | a0001c0001t0001g0079 a0001c0001t0001g0125 a0001c0001t0001g0128 others(8): Show |
11 | 356 | 0.0309 | 1 | c.122 others(9): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20799886 | C | CA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(12): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0054 a0001c0004t0001g0063 a0003c0003t0001g0011 others(7): Show |
15 | 356 | 0.0421 | 1 | c.*29 others(12): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2306 | chr16 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7300160 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(48): Show |
131 | 430 | 0.3047 | 1 | c.-41 others(12): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 3911 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7303378 | C | CA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00621.hp2 others(59): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(28): Show |
62 | 430 | 0.1442 | 1 | c.-95 others(10): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 693 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7306660 | G | GC | frameshift_variant | HIGH | NA19089.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0070 | 1 | 430 | 0.0023 | 1 | c.331 others(4): Show |
p.Leu others(5): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/13 | 592/2349 | 332/1743 | 111/580 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7306702 | T | TC | frameshift_variant | HIGH | NA19089.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0070 | 1 | 430 | 0.0023 | 1 | c.374 others(4): Show |
p.Glu others(5): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/13 | 635/2349 | 375/1743 | 125/580 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7306847 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00621.hp2 others(88): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0018 others(25): Show |
91 | 430 | 0.2116 | 1 | c.412 others(8): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |