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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM1_chr16_20618235_20702680 | 20683646 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(163): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0002g0017 a0001c0001t0002g0025 a0001c0001t0002g0026 others(161): Show |
166 | 199 | 0.8342 | 1 | c.404 others(9): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 3/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20685819 | C | CA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02486.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0013 | a0001c0001t0002a0001c0003t0001a0005c0013t0001 | a0001c0001t0002g0075 a0001c0001t0002g0088 a0001c0001t0002g0272 others(3): Show |
6 | 262 | 0.0229 | 1 | c.193 others(8): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20685832 | C | CA | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 HG03516.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0144 a0001c0001t0002g0156 a0001c0001t0002g0181 others(6): Show |
9 | 258 | 0.0349 | 1 | c.193 others(8): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20686978 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(86): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0002g0025 a0001c0001t0002g0088 a0001c0001t0002g0103 others(84): Show |
89 | 257 | 0.3463 | 1 | c.193 others(9): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20693169 | C | CA | intron_variant | MODIFIER | HG01081.hp2 NA18966.hp1 NA18987.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0002a0001c0003t0001a0001c0007t0001 | a0001c0001t0002g0150 a0001c0003t0001g0149 a0001c0003t0001g0151 others(3): Show |
6 | 264 | 0.0227 | 1 | c.-51 others(9): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20698189 | C | CA | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02717.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 others(12): Show |
15 | 270 | 0.0556 | 1 | c.-60 others(5): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 510 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20454900 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(235): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0022others(13): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0001c0001t0001g0028 a0001c0001t0001g0167 a0002c0002t0002g0185 others(205): Show |
238 | 421 | 0.5653 | 1 | c.-9+ others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20455068 | A | AT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(259): Show |
a0002a0003a0004others(10): Show | a0002c0002a0002c0022a0003c0003others(16): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(38): Show | a0002c0002t0002g0185 a0002c0002t0002g0190 a0002c0002t0002g0209 others(229): Show |
262 | 434 | 0.6037 | 1 | c.-9+ others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20455736 | T | TA | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01071.hp2 others(68): Show |
a0003a0004a0006others(2): Show | a0003c0003a0003c0010a0003c0023others(6): Show | a0003c0003t0002a0003c0003t0003a0003c0010t0001others(13): Show | a0003c0003t0002g0038 a0003c0003t0002g0040 a0003c0003t0002g0268 others(62): Show |
71 | 434 | 0.1636 | 1 | c.-9+ others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20456911 | C | CA | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01070.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0025a0002c0002t0003others(12): Show | a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0137 others(57): Show |
66 | 366 | 0.1803 | 1 | c.-8- others(8): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20458445 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(244): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0022a0003c0003others(13): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(33): Show | a0002c0002t0002g0185 a0002c0002t0002g0190 a0002c0002t0002g0209 others(215): Show |
247 | 434 | 0.5691 | 1 | c.-8- others(16): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20462828 | C | CA | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 HG02896.hp1 others(5): Show |
a0003a0004 | a0003c0010a0004c0014 | a0003c0010t0001a0003c0010t0006a0004c0014t0001 | a0003c0010t0001g0146 a0003c0010t0001g0147 a0003c0010t0001g0149 others(5): Show |
8 | 434 | 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 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0010g0047 others(1): Show |
4 | 434 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0117 a0001c0001t0004g0024 others(5): Show |
9 | 349 | 0.0258 | 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 | a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0137 others(1): Show |
5 | 434 | 0.0115 | 1 | c.895 others(16): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20481474 | A | AG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp1 others(70): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0003a0004c0004others(7): Show | a0001c0001t0006a0003c0003t0002a0003c0003t0003others(11): Show | a0001c0001t0006g0091 a0003c0003t0002g0263 a0003c0003t0002g0268 others(63): Show |
73 | 434 | 0.1682 | 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 | a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0006g0091 others(20): Show |
24 | 348 | 0.0690 | 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 | a0003c0003t0002g0258 a0003c0003t0002g0334 a0003c0003t0002g0355 others(3): Show |
6 | 434 | 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 | a0001c0001t0006g0091 a0002c0002t0007g0227 a0003c0003t0007g0013 others(16): Show |
22 | 433 | 0.0508 | 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 | a0001c0001t0010g0051 a0002c0002t0003g0183 a0002c0002t0003g0214 others(11): Show |
16 | 43 | 0.3721 | 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 | a0001c0001t0001g0081 a0001c0001t0001g0113 a0001c0001t0004g0024 others(54): Show |
61 | 331 | 0.1843 | 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 a0001c0001t0001g0003 a0001c0001t0001g0004 others(121): Show |
156 | 433 | 0.3603 | 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 | a0003c0003t0007g0013 a0003c0003t0007g0235 a0003c0003t0012g0161 others(1): Show |
6 | 434 | 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(285): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(27): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0018others(51): Show | a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0020 others(252): Show |
288 | 385 | 0.7481 | 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(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(13): Show | a0001c0001t0001g0026 a0001c0002t0002g0029 a0001c0002t0002g0236 others(54): Show |
64 | 321 | 0.1994 | 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 | a0001c0002t0002g0008 a0001c0002t0002g0030 a0001c0002t0002g0032 others(57): Show |
67 | 310 | 0.2161 | 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 | a0001c0001t0003g0176 a0001c0002t0002g0118 a0001c0002t0002g0236 others(57): Show |
70 | 384 | 0.1823 | 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 | a0003c0008t0003g0125 a0005c0011t0026g0318 a0006c0020t0003g0110 others(2): Show |
5 | 385 | 0.0130 | 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(5): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(118): Show |
148 | 386 | 0.3834 | 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 | a0001c0001t0001g0135 a0001c0004t0002g0139 a0001c0004t0002g0145 |
3 | 386 | 0.0078 | 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(11): Show | a0001c0001a0001c0002a0001c0004others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(213): Show |
252 | 383 | 0.6580 | 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 | a0001c0001t0003g0183 a0001c0002t0003g0013 a0003c0007t0003g0014 others(1): Show |
6 | 345 | 0.0174 | 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(364): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0004others(24): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(51): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(312): Show |
367 | 382 | 0.9607 | 1 | c.178 others(9): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | 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 a0001c0001t0001g0006 others(209): Show |
246 | 386 | 0.6373 | 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 | a0001c0002t0002g0118 a0001c0002t0003g0116 a0001c0006t0011g0115 others(13): Show |
17 | 383 | 0.0444 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0165 |
3 | 218 | 0.0138 | 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 a0002c0003t0005g0010 a0002c0003t0005g0048 others(42): Show |
48 | 263 | 0.1825 | 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 | a0001c0001t0001g0026 a0001c0001t0001g0163 a0001c0001t0001g0208 others(4): Show |
8 | 378 | 0.0212 | 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 a0001c0001t0001g0006 others(83): Show |
110 | 361 | 0.3047 | 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 | a0001c0002t0002g0118 a0001c0002t0003g0116 a0001c0002t0003g0255 others(62): Show |
71 | 217 | 0.3272 | 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 | a0001c0001a0001c0016a0004c0013others(1): Show | a0001c0001t0001a0001c0016t0001a0004c0013t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(22): Show |
32 | 268 | 0.1194 | 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 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0178 others(5): Show |
9 | 353 | 0.0255 | 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 | a0001c0001a0008c0018a0010c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0008c0018t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(43): Show |
74 | 311 | 0.2379 | 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 | a0001c0001a0001c0004a0001c0016others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0016t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(49): Show |
100 | 295 | 0.3390 | 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 | a0001c0001t0001g0071 a0001c0001t0001g0118 a0001c0001t0001g0130 others(3): Show |
7 | 352 | 0.0199 | 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 | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0012t0001others(5): Show | a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0031 others(31): Show |
55 | 329 | 0.1672 | 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 a0004c0005t0001g0182 a0004c0005t0001g0186 |
4 | 354 | 0.0113 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0057 others(6): Show |
16 | 354 | 0.0452 | 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 | a0001c0001a0008c0018 | a0001c0001t0001a0001c0001t0005a0008c0018t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0019 others(34): Show |
82 | 191 | 0.4293 | 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 | 20783812 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0012others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(182): Show |
325 | 350 | 0.9286 | 1 | c.102 others(10): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |