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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSM3_chr16_20759014_20802581 | 20759478 | TA | T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(24): Show |
a0001a0003a0006 | a0001c0004a0001c0008a0003c0003others(1): Show | a0001c0004t0001a0001c0008t0001a0003c0003t0001others(1): Show | a0001c0004t0001g0005 a0001c0004t0001g0054 a0001c0004t0001g0058 others(11): Show |
27 | 356 | 0.0758 | -1 | c.-46 others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4535 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20759559 | CA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(71): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(9): Show | a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0033 others(40): Show |
74 | 356 | 0.2079 | -1 | c.-46 others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4454 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20761099 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00609.hp1 others(39): Show |
a0001a0004a0012 | a0001c0001a0004c0014a0012c0011 | a0001c0001t0001a0004c0014t0001a0012c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(19): Show |
42 | 356 | 0.1180 | -1 | c.-30 others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2914 | chr16 | TogoVar | |||||||
ACSM3_chr16_20759014_20802581 | 20770530 | TA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(43): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0001g0051 a0001c0001t0001g0181 a0002c0002t0001g0003 others(24): Show |
46 | 356 | 0.1292 | -1 | c.219 others(8): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20771371 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01168.hp1 others(37): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0001c0018others(4): Show | a0001c0001t0001a0001c0008t0001a0001c0018t0001others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0019 a0001c0001t0001g0023 others(27): Show |
40 | 356 | 0.1124 | -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 | 20772415 | TA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(53): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0033 others(29): Show |
56 | 356 | 0.1573 | -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 | CT | C | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02698.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0001a0001c0008t0001 | a0001c0001t0001g0051 a0001c0001t0001g0124 a0001c0001t0001g0150 others(5): Show |
15 | 356 | 0.0421 | -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 | 20779425 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(87): Show |
163 | 356 | 0.4579 | -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 | 20779771 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(63): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0028 others(42): Show |
66 | 356 | 0.1854 | -1 | c.639 others(8): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM3_chr16_20759014_20802581 | 20786527 | TA | T | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03195.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0048 a0004c0005t0001g0198 a0004c0005t0001g0202 |
4 | 356 | 0.0112 | -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 | 20789684 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01496.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0090 others(5): Show |
9 | 356 | 0.0253 | -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 | 20790146 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01109.hp1 others(43): Show |
a0001a0010a0011 | a0001c0001a0010c0012a0011c0010 | a0001c0001t0001a0010c0012t0001a0011c0010t0001 | a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 others(32): Show |
46 | 356 | 0.1292 | -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 | 20802574 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01167.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0008t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(17): Show |
27 | 356 | 0.0758 | -1 | c.*56 others(6): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 4994 | chr16 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7300180 | AG | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(109): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0022 others(46): Show |
112 | 430 | 0.2605 | -1 | c.-41 others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 3891 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7301616 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(359): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(128): Show |
362 | 430 | 0.8419 | -1 | c.-27 others(6): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2455 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7303378 | CA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00733.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0005others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(19): Show |
70 | 430 | 0.1628 | -1 | c.-95 others(5): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 693 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7306535 | AG | A | frameshift_variant | HIGH | NA19089.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0070 | 1 | 430 | 0.0023 | -1 | c.208 others(4): Show |
p.Glu others(4): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/13 | 468/2349 | 208/1743 | 70/580 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7306580 | AG | A | frameshift_variant | HIGH | NA19089.hp2 | a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0070 | 1 | 430 | 0.0023 | -1 | c.253 others(4): Show |
p.Asp others(4): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/13 | 513/2349 | 253/1743 | 85/580 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7306847 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 others(42): Show |
135 | 430 | 0.3140 | -1 | c.412 others(8): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSM4_chr12_7299072_7333719 | 7308040 | GC | G | intron_variant | MODIFIER | HG01943.hp2 HG01978.hp2 HG01981.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 4 | 430 | 0.0093 | -1 | c.412 others(9): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
ACSM4_chr12_7299072_7333719 | 7310741 | AT | A | frameshift_variant others(1): Show |
HIGH | NA19076.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0001 | 1 | 430 | 0.0023 | -1 | c.618 others(4): Show |
p.Gln others(5): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 3/13 | 878/2349 | 618/1743 | 206/580 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACSM4_chr12_7299072_7333719 | 7315195 | CA | C | intron_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG01261.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0067 others(2): Show |
10 | 430 | 0.0233 | -1 | c.621 others(9): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSM4_chr12_7299072_7333719 | 7319713 | TG | T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0012 | 7 | 430 | 0.0163 | -1 | c.922 others(9): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSM4_chr12_7299072_7333719 | 7324832 | TA | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00639.hp1 others(78): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0063 others(35): Show |
81 | 430 | 0.1884 | -1 | c.153 others(9): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSM4_chr12_7299072_7333719 | 7329346 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 NA18964.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 11 | 430 | 0.0256 | -1 | c.*97 others(5): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 628 | chr12 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20405986 | AG | A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02965.hp2 HG03098.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0012 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0046 others(2): Show |
6 | 434 | 0.0138 | -1 | c.-36 others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3547 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20406902 | GA | G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01069.hp1 others(95): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0021a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0015 others(83): Show |
98 | 434 | 0.2258 | -1 | c.-27 others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2631 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20408075 | CT | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02280.hp1 HG02486.hp1 others(22): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0007a0001c0007t0011others(9): Show | a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 others(21): Show |
25 | 434 | 0.0576 | -1 | c.-16 others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 1458 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20411255 | CA | C | intron_variant | MODIFIER | NA18959.hp2 NA18970.hp1 NA18972.hp1 others(4): Show |
a0001a0012a0030 | a0001c0001a0012c0019a0030c0025 | a0001c0001t0001a0012c0019t0001a0030c0025t0001 | a0001c0001t0001g0026 a0001c0001t0001g0249 a0001c0001t0001g0251 others(3): Show |
7 | 434 | 0.0161 | -1 | c.-15 others(8): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20416285 | GA | G | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG01361.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(5): Show | a0001c0001t0001g0059 a0001c0001t0001g0235 a0001c0001t0001g0236 others(9): Show |
13 | 434 | 0.0300 | -1 | c.205 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20417023 | CA | C | intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG01943.hp2 others(16): Show |
a0001a0002a0029 | a0001c0001a0002c0002a0029c0031 | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(1): Show | a0001c0001t0001g0231 a0001c0001t0007g0301 a0001c0001t0007g0302 others(13): Show |
19 | 434 | 0.0438 | -1 | c.205 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20418138 | TG | T | frameshift_variant | HIGH | NA18972.hp1 | a0030 | a0030c0025 | a0030c0025t0001 | a0030c0025t0001g0250 | 1 | 434 | 0.0023 | -1 | c.288 others(4): Show |
p.Lys others(4): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3/14 | 435/2796 | 288/1740 | 96/579 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20425278 | TA | T | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01257.hp1 others(10): Show |
a0006a0024 | a0006c0005a0024c0026 | a0006c0005t0003a0006c0005t0009a0006c0005t0012others(1): Show | a0006c0005t0003g0254 a0006c0005t0009g0040 a0006c0005t0009g0335 others(8): Show |
13 | 434 | 0.0300 | -1 | c.921 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20428862 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02615.hp1 others(4): Show |
a0005 | a0005c0009a0005c0024 | a0005c0009t0006a0005c0024t0006 | a0005c0009t0006g0041 a0005c0009t0006g0042 a0005c0009t0006g0345 others(3): Show |
7 | 434 | 0.0161 | -1 | c.100 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20431042 | TG | T | frameshift_variant | HIGH | NA19082.hp2 | a0032 | a0032c0032 | a0032c0032t0003 | a0032c0032t0003g0103 | 1 | 434 | 0.0023 | -1 | c.117 others(5): Show |
p.Lys others(5): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 9/14 | 1326/2796 | 1179/1740 | 393/579 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20431053 | TC | T | frameshift_variant | HIGH | NA19082.hp2 | a0032 | a0032c0032 | a0032c0032t0003 | a0032c0032t0003g0103 | 1 | 434 | 0.0023 | -1 | c.119 others(5): Show |
p.Pro others(5): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 9/14 | 1337/2796 | 1190/1740 | 397/579 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20431285 | AC | A | frameshift_variant | HIGH | NA19082.hp2 | a0032 | a0032c0032 | a0032c0032t0003 | a0032c0032t0003g0103 | 1 | 434 | 0.0023 | -1 | c.127 others(5): Show |
p.Thr others(5): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/14 | 1422/2796 | 1275/1740 | 425/579 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ACSM5_chr16_20404534_20446336 | 20431566 | GT | G | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 NA19043.hp2 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0341 a0005c0008t0006g0342 a0005c0008t0006g0343 others(1): Show |
4 | 434 | 0.0092 | -1 | c.130 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20432847 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0002a0003a0006 | a0002c0002a0002c0016a0003c0003others(1): Show | a0002c0002t0002a0002c0002t0004a0002c0016t0002others(3): Show | a0002c0002t0002g0083 a0002c0002t0002g0353 a0002c0002t0004g0218 others(44): Show |
52 | 434 | 0.1198 | -1 | c.130 others(10): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20433682 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(277): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0007a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(242): Show |
280 | 434 | 0.6452 | -1 | c.130 others(10): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20433840 | AT | A | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00741.hp2 others(85): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0021a0001c0038others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 others(73): Show |
88 | 434 | 0.2028 | -1 | c.130 others(10): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20437828 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(56): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(7): Show | a0001c0001t0001g0155 a0001c0001t0003g0130 a0002c0002t0004g0161 others(51): Show |
59 | 434 | 0.1359 | -1 | c.153 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20438541 | CA | C | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01433.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0121 a0002c0002t0004g0122 a0002c0002t0004g0207 others(1): Show |
4 | 434 | 0.0092 | -1 | c.153 others(10): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20438954 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(81): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 others(75): Show |
84 | 434 | 0.1936 | -1 | c.153 others(9): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20439745 | GA | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp1 others(53): Show |
a0001a0003a0006others(3): Show | a0001c0001a0003c0003a0006c0005others(3): Show | a0001c0001t0003a0003c0003t0003a0006c0005t0003others(4): Show | a0001c0001t0003g0130 a0003c0003t0003g0008 a0003c0003t0003g0016 others(48): Show |
56 | 434 | 0.1290 | -1 | c.153 others(8): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20440957 | TA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(137): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0001c0039others(16): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(25): Show | a0001c0001t0003g0130 a0001c0001t0004g0018 a0001c0001t0004g0133 others(122): Show |
140 | 434 | 0.3226 | -1 | c.*54 others(5): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 14/14 | 542 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM5_chr16_20404534_20446336 | 20445885 | CT | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG03130.hp1 NA19043.hp2 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0341 a0005c0008t0006g0342 a0005c0008t0006g0343 others(1): Show |
4 | 434 | 0.0092 | -1 | c.*54 others(6): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 4550 | chr16 | TogoVar | |||||||
ACSM6_chr10_95189238_95233929 | 95193824 | TA | T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01168.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(12): Show |
16 | 314 | 0.0510 | -1 | c.-50 others(5): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 413 | chr10 | TogoVar | |||||||
ACSM6_chr10_95189238_95233929 | 95198648 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(301): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(211): Show |
304 | 314 | 0.9682 | -1 | c.193 others(9): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95202036 | GA | G | frameshift_variant | HIGH | NA18949.hp2 NA18982.hp2 NA19076.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0002 a0005c0006t0001g0017 a0005c0006t0001g0030 |
3 | 314 | 0.0096 | -1 | c.246 others(4): Show |
p.Glu others(4): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 3/11 | 333/1675 | 246/1443 | 82/480 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |