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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTRT1_chrX_128045962_128057403 | 128057362 | AT | A | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | -1 | c.-51 others(6): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 4960 | chrX | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016469 | GA | G | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18941.hp2 NA19077.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 |
3 | 366 | 0.0082 | -1 | c.-52 others(6): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4997 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016523 | GA | G | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG03098.hp1 others(5): Show |
a0001a0005 | a0001c0007a0005c0006 | a0001c0007t0001a0005c0006t0001 | a0001c0007t0001g0000 a0005c0006t0001g0000 |
8 | 366 | 0.0219 | -1 | c.-51 others(6): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4943 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016530 | GA | G | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01168.hp2 others(55): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show |
58 | 366 | 0.1585 | -1 | c.-51 others(6): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4936 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3019244 | CG | C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG03098.hp1 others(5): Show |
a0001a0005 | a0001c0007a0005c0006 | a0001c0007t0001a0005c0006t0001 | a0001c0007t0001g0000 a0005c0006t0001g0000 |
8 | 366 | 0.0219 | -1 | c.-24 others(6): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 2222 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3022685 | TC | T | frameshift_variant | HIGH | NA18972.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0000 | 1 | 366 | 0.0027 | -1 | c.100 others(5): Show |
p.Asp others(5): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 1225/1437 | 1005/1134 | 335/377 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTRT2_chr1_3016467_3027903 | 3024508 | GC | G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 366 | 0.0082 | -1 | c.*16 others(6): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1606 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3027626 | CG | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(38): Show |
a0001a0002a0005 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0000 a0001c0012t0001g0000 a0002c0002t0001g0000 others(2): Show |
41 | 366 | 0.1120 | -1 | c.*48 others(6): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4724 | chr1 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770236 | TA | T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02040.hp1 HG02717.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0003c0003t0001g0009 |
7 | 418 | 0.0168 | -1 | c.-71 others(5): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 676 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771312 | TA | T | upstream_gene_variant | MODIFIER | HG01358.hp2 NA18943.hp2 NA18946.hp1 others(14): Show |
a0001a0008a0009others(1): Show | a0001c0001a0008c0012a0009c0010others(1): Show | a0001c0001t0001a0008c0012t0001a0009c0010t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0044 others(3): Show |
17 | 418 | 0.0407 | -1 | c.-17 others(6): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1752 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771961 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(211): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 others(26): Show |
214 | 418 | 0.5120 | -1 | c.-24 others(6): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2401 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169772316 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(185): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0005c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show |
188 | 418 | 0.4498 | -1 | c.-27 others(6): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2756 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51957441 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(145): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0049 a0001c0001t0001g0121 a0001c0001t0001g0141 others(130): Show |
148 | 324 | 0.4568 | -1 | c.91+ others(8): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51958455 | CA | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0002g0003 others(81): Show |
93 | 324 | 0.2870 | -1 | c.91+ others(8): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51962326 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0121 a0001c0001t0002g0279 a0001c0001t0007g0122 others(7): Show |
11 | 324 | 0.0340 | -1 | c.91+ others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51977607 | CT | C | intron_variant | MODIFIER | HG01109.hp1 HG01515.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0205 a0001c0001t0002g0106 a0001c0001t0002g0279 others(6): Show |
10 | 324 | 0.0309 | -1 | c.580 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51977783 | AT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0206 a0001c0001t0002g0050 a0001c0001t0003g0165 others(11): Show |
15 | 324 | 0.0463 | -1 | c.580 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51978829 | CA | C | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0019 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(6): Show |
10 | 324 | 0.0309 | -1 | c.581 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51981848 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(171): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0200 a0001c0001t0002g0003 a0001c0001t0002g0008 others(154): Show |
174 | 324 | 0.5370 | -1 | c.811 others(8): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TA | T | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp1 HG02071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0250 a0001c0001t0002g0085 others(7): Show |
11 | 324 | 0.0340 | -1 | c.139 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157523232 | GA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(123): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(28): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(123): Show |
126 | 216 | 0.5833 | -1 | c.*10 others(7): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3534 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157525227 | GA | G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(6): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0006a0002c0003t0014a0002c0004t0006 | a0002c0003t0006g0081 a0002c0003t0006g0082 a0002c0003t0006g0092 others(6): Show |
9 | 216 | 0.0417 | -1 | c.*86 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1539 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157525667 | TA | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0014a0002c0003t0006a0002c0003t0014others(1): Show | a0001c0002t0014g0049 a0002c0003t0006g0081 a0002c0003t0006g0082 others(7): Show |
10 | 216 | 0.0463 | -1 | c.*82 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1099 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157525694 | GA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(155): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(38): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(155): Show |
158 | 216 | 0.7315 | -1 | c.*82 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1072 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157535143 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(125): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(124): Show |
128 | 216 | 0.5926 | -1 | c.135 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157543879 | CT | C | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02809.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0002t0016 | a0001c0001t0036g0185 a0001c0002t0016g0037 a0001c0002t0016g0038 |
3 | 216 | 0.0139 | -1 | c.943 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157544035 | CT | C | intron_variant | MODIFIER | HG01256.hp1 HG01256.hp2 HG02145.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(10): Show | a0001c0001t0001g0151 a0001c0001t0029g0014 a0001c0002t0001g0112 others(12): Show |
15 | 216 | 0.0694 | -1 | c.943 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157544202 | AT | A | intron_variant | MODIFIER | HG01515.hp1 HG02647.hp1 HG02738.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0030a0001c0002t0001a0001c0002t0014others(2): Show | a0001c0001t0030g0098 a0001c0002t0001g0069 a0001c0002t0014g0049 others(2): Show |
5 | 216 | 0.0232 | -1 | c.943 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157549829 | CA | C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG00639.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0148 a0001c0001t0001g0193 a0001c0001t0004g0139 others(40): Show |
44 | 216 | 0.2037 | -1 | c.775 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157550002 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(123): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(122): Show |
126 | 216 | 0.5833 | -1 | c.775 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157550734 | CA | C | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0036others(2): Show | a0001c0001t0003g0163 a0001c0001t0012g0191 a0001c0001t0012g0192 others(4): Show |
7 | 216 | 0.0324 | -1 | c.545 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554426 | GA | G | intron_variant | MODIFIER | HG02559.hp1 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0026 | a0001c0002t0001g0101 a0002c0003t0026g0107 |
2 | 216 | 0.0093 | -1 | c.544 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01243.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(9): Show | a0001c0001t0001g0196 a0001c0001t0011g0165 a0001c0002t0001g0056 others(16): Show |
19 | 216 | 0.0880 | -1 | c.544 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157556657 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG01169.hp2 HG01515.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(11): Show | a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0198 others(33): Show |
36 | 216 | 0.1667 | -1 | c.305 others(8): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562293 | CA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0017 a0001c0002t0001g0041 a0001c0002t0001g0042 others(34): Show |
37 | 216 | 0.1713 | -1 | c.305 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157572379 | TA | T | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0143 a0001c0001t0001g0200 a0001c0002t0001g0041 others(39): Show |
42 | 216 | 0.1944 | -1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157576835 | CT | C | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp1 HG02647.hp2 others(7): Show |
a0001a0002 | a0001c0013a0002c0003a0002c0012others(1): Show | a0001c0013t0003a0002c0003t0002a0002c0003t0005others(4): Show | a0001c0013t0003g0051 a0002c0003t0002g0010 a0002c0003t0005g0008 others(7): Show |
10 | 216 | 0.0463 | -1 | c.304 others(10): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157584491 | AT | A | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0036 | a0001c0001t0011g0165 a0001c0001t0011g0166 a0001c0001t0036g0185 |
3 | 216 | 0.0139 | -1 | c.304 others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 others(27): Show |
30 | 216 | 0.1389 | -1 | c.74- others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157615318 | CA | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02145.hp2 others(28): Show |
a0001a0002 | a0001c0002a0001c0013a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(11): Show | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(28): Show |
31 | 216 | 0.1435 | -1 | c.73+ others(9): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157630594 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0143 others(86): Show |
89 | 216 | 0.4120 | -1 | c.-19 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1731 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157632343 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(166): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(47): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(166): Show |
169 | 216 | 0.7824 | -1 | c.-37 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3480 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157632662 | TC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(151): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0143 others(151): Show |
154 | 216 | 0.7130 | -1 | c.-40 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3799 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157632857 | CT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG01243.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0016 a0001c0001t0001g0152 a0001c0001t0001g0174 others(28): Show |
31 | 216 | 0.1435 | -1 | c.-42 others(6): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3994 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157734418 | AC | A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0005a0001c0004t0008a0001c0004t0009others(1): Show | a0001c0002t0005g0002 a0001c0004t0008g0030 a0001c0004t0008g0110 others(5): Show |
8 | 174 | 0.0460 | -1 | c.*31 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2027 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157740184 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(18): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(88): Show |
91 | 174 | 0.5230 | -1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157741630 | GA | G | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0009a0001c0004t0021 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | 174 | 0.0402 | -1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157745294 | AC | A | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0133 a0001c0002t0003g0135 a0001c0002t0003g0155 others(2): Show |
5 | 174 | 0.0287 | -1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157746984 | TA | T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02922.hp1 others(10): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0008a0001c0004t0009a0001c0004t0021others(1): Show | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(10): Show |
13 | 174 | 0.0747 | -1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157750897 | TA | T | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(3): Show |
6 | 174 | 0.0345 | -1 | c.126 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar |