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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR8_chr3_53862066_53887152 | 53863821 | ATTTT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(111): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(24): Show |
114 | 152 | 0.7500 | -4 | c.*48 others(15): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3244 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53870648 | AAAAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(93): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0007 | a0001c0001t0001a0001c0001t0007a0001c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(16): Show |
96 | 430 | 0.2233 | -4 | c.156 others(21): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 11/12 | chr3 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016658 | GAGAA | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02622.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 |
9 | 364 | 0.0247 | -4 | c.-50 others(15): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4808 | chr1 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770598 | CATAA | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG02015.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(4): Show |
20 | 373 | 0.0536 | -4 | c.-10 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1038 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770890 | TTTAG | T | upstream_gene_variant | MODIFIER | NA18966.hp1 NA19004.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0045 |
3 | 416 | 0.0072 | -4 | c.-13 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1330 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770953 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(172): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(16): Show |
175 | 413 | 0.4237 | -4 | c.-14 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1393 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770957 | AATAT | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG01255.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0016 a0003c0003t0001g0007 a0003c0003t0001g0009 others(1): Show |
17 | 412 | 0.0413 | -4 | c.-14 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1397 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770984 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(172): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(16): Show |
175 | 414 | 0.4227 | -4 | c.-14 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1424 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770988 | AATAT | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02258.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0010 a0003c0003t0001g0007 a0003c0003t0001g0009 others(1): Show |
14 | 414 | 0.0338 | -4 | c.-14 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1428 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771015 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(170): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(14): Show |
173 | 415 | 0.4169 | -4 | c.-14 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1455 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771019 | AATAT | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG02809.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0010 a0002c0002t0001g0037 a0003c0003t0001g0007 others(1): Show |
10 | 413 | 0.0242 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1459 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771046 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(173): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(15): Show |
176 | 416 | 0.4231 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1486 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771050 | AATAT | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02809.hp1 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0010 a0001c0001t0001g0042 a0003c0003t0001g0007 others(1): Show |
6 | 412 | 0.0146 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1490 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771077 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(163): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(14): Show |
166 | 416 | 0.3990 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1517 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771081 | AATAT | A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0042 |
7 | 411 | 0.0170 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1521 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771108 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(166): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(14): Show |
169 | 413 | 0.4092 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1548 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771112 | AATAT | A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
3 | 415 | 0.0072 | -4 | c.-15 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1552 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771139 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(160): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(14): Show |
163 | 413 | 0.3947 | -4 | c.-16 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1579 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771143 | AATAT | A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 |
5 | 411 | 0.0122 | -4 | c.-16 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1583 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771170 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(157): Show |
a0001a0002a0008others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(13): Show |
160 | 412 | 0.3884 | -4 | c.-16 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1610 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771174 | AATAT | A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 406 | 0.0099 | -4 | c.-16 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1614 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771201 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp1 others(130): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(10): Show |
133 | 404 | 0.3292 | -4 | c.-16 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1641 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771205 | AATAT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG02280.hp1 HG03017.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 12 | 407 | 0.0295 | -4 | c.-16 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1645 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771232 | CATAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0022 others(8): Show |
61 | 396 | 0.1540 | -4 | c.-17 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1672 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771236 | AATAT | A | upstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01261.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 16 | 402 | 0.0398 | -4 | c.-17 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1676 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771263 | CATAA | C | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 |
20 | 226 | 0.0885 | -4 | c.-17 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1703 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771293 | TAATA | T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02027.hp2 HG02040.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0024 others(1): Show |
14 | 415 | 0.0337 | -4 | c.-17 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1733 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51963175 | TTAAG | T | intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0021 | a0001c0001t0004g0121 a0001c0001t0004g0130 a0001c0001t0004g0131 others(1): Show |
4 | 322 | 0.0124 | -4 | c.91+ others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51974447 | TACCC | T | intron_variant | MODIFIER | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 others(1): Show |
4 | 322 | 0.0124 | -4 | c.92- others(17): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51987190 | TAAAC | T | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0082 others(6): Show |
9 | 322 | 0.0280 | -4 | c.126 others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0022 others(18): Show |
26 | 50 | 0.5200 | -4 | c.139 others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157540168 | CTAAG | C | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0166 a0001c0001t0011g0167 |
2 | 214 | 0.0093 | -4 | c.122 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | GAGAA | G | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 HG03579.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0023others(2): Show | a0001c0001t0001g0197 a0001c0001t0003g0182 a0001c0001t0003g0190 others(3): Show |
6 | 53 | 0.1132 | -4 | c.544 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157554382 | GGGAA | G | intron_variant | MODIFIER | HG01261.hp1 HG02559.hp1 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002a0002c0003t0026 | a0001c0002t0001g0101 a0002c0003t0002g0006 a0002c0003t0026g0107 |
3 | 214 | 0.0140 | -4 | c.544 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157556657 | CTTTT | C | intron_variant | MODIFIER | HG01975.hp1 HG02559.hp1 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0001a0001c0002t0004a0002c0003t0002others(2): Show | a0001c0002t0001g0121 a0001c0002t0001g0128 a0001c0002t0001g0208 others(4): Show |
7 | 112 | 0.0625 | -4 | c.305 others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588236 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(99): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(28): Show | a0001c0001t0001g0147 a0001c0002t0001g0041 a0001c0002t0001g0042 others(98): Show |
102 | 182 | 0.5604 | -4 | c.74- others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | CATAT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0005 | a0001c0002t0001a0001c0002t0005a0002c0003t0002others(5): Show | a0001c0002t0001g0027 a0001c0002t0001g0030 a0001c0002t0001g0032 others(11): Show |
14 | 33 | 0.4242 | -4 | c.74- others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157593804 | AAAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0014 | a0002c0003t0006g0077 a0002c0003t0006g0102 a0002c0003t0006g0103 others(2): Show |
5 | 214 | 0.0234 | -4 | c.74- others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | TACAC | T | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 others(15): Show |
18 | 60 | 0.3000 | -4 | c.-94 others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157751858 | TTCTC | T | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0020 | a0001c0002t0018g0148 a0001c0002t0020g0163 |
2 | 172 | 0.0116 | -4 | c.126 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157757041 | TATAA | T | intron_variant | MODIFIER | NA18965.hp2 NA18978.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0002t0001g0124 others(1): Show |
4 | 172 | 0.0233 | -4 | c.126 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157795377 | AACAC | A | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01255.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(12): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0131 others(32): Show |
35 | 52 | 0.6731 | -4 | c.67+ others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826908 | AAAGG | A | intron_variant | MODIFIER | HG01884.hp1 NA20752.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0013 a0001c0001t0002g0078 a0001c0001t0007g0075 |
3 | 172 | 0.0174 | -4 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157828762 | TTTTG | T | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG02145.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0002g0154 a0001c0002t0001g0029 a0001c0002t0001g0031 others(39): Show |
42 | 172 | 0.2442 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTGT | A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0002g0062 a0001c0002t0001g0100 a0001c0002t0001g0101 others(10): Show |
13 | 96 | 0.1354 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855323 | TACAC | T | intron_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0002g0086 a0001c0001t0002g0154 a0001c0002t0001g0145 others(5): Show |
8 | 108 | 0.0741 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(48): Show |
51 | 74 | 0.6892 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(53): Show |
56 | 63 | 0.8889 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | CTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0010g0003 a0001c0002t0001g0024 a0001c0002t0001g0098 others(16): Show |
19 | 30 | 0.6333 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157865821 | AAGAT | A | intron_variant | MODIFIER | HG00438.hp1 HG02145.hp2 HG02155.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(5): Show | a0001c0001t0001g0131 a0001c0001t0002g0129 a0001c0001t0002g0154 others(14): Show |
17 | 84 | 0.2024 | -4 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar |