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 | A | AT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(55): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0003g0004 others(18): Show |
58 | 432 | 0.1343 | 1 | c.*48 others(6): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3244 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53866487 | A | AT | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01934.hp2 HG01981.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0003g0028 a0001c0001t0004g0009 others(6): Show |
22 | 432 | 0.0509 | 1 | c.*22 others(12): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 578 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53871333 | T | TC | frameshift_variant | HIGH | NA19089.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0046 | 1 | 432 | 0.0023 | 1 | c.146 others(5): Show |
p.Glu others(5): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 11/13 | 1516/3579 | 1465/1875 | 489/624 | chr3 | TogoVar | |||
ACTR8_chr3_53862066_53887152 | 53876082 | T | TG | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0029 a0001c0001t0002g0067 a0001c0001t0003g0004 others(17): Show |
82 | 432 | 0.1898 | 1 | c.779 others(6): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 6/12 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53876090 | G | GA | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00733.hp1 others(63): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0020 | a0002c0003t0002g0005 a0002c0003t0002g0008 a0002c0003t0002g0010 others(11): Show |
66 | 432 | 0.1528 | 1 | c.779 others(7): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 6/12 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53876892 | G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(427): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(103): Show |
430 | 432 | 0.9954 | 1 | c.685 others(8): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
ACTR8_chr3_53862066_53887152 | 53877295 | A | AG | frameshift_variant | HIGH | NA19089.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0074 | 1 | 432 | 0.0023 | 1 | c.602 others(8): Show |
p.Thr others(5): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 5/13 | 653/3579 | 602/1875 | 201/624 | chr3 | TogoVar | |||
ACTR8_chr3_53862066_53887152 | 53877379 | A | AT | frameshift_variant others(1): Show |
HIGH | NA19089.hp2 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0074 | 1 | 432 | 0.0023 | 1 | c.518 others(4): Show |
p.Tyr others(5): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 5/13 | 569/3579 | 518/1875 | 173/624 | chr3 | TogoVar | |||
ACTRT1_chrX_128045962_128057403 | 128048269 | C | CA | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.*28 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2692 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128048326 | C | CT | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.*27 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2635 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128052627 | A | AT | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-42 others(10): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 225 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128053378 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(29): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show |
32 | 285 | 0.1123 | 1 | c.-11 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 976 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128053890 | G | GT | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-16 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 1488 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128053940 | G | GT | upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-17 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 1538 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128054851 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(19): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0002a0008c0009t0002 | a0001c0001t0002g0000 a0008c0009t0002g0000 |
22 | 285 | 0.0772 | 1 | c.-26 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2449 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128054906 | T | TG | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-27 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2504 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128055271 | G | GT | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-30 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2869 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128055453 | G | GT | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-32 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3051 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128055627 | G | GT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp2 others(20): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0001c0001t0002a0008c0009t0002 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0008c0009t0002g0000 |
23 | 285 | 0.0807 | 1 | c.-34 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3225 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128055879 | T | TG | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-36 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3477 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128055960 | G | GC | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-37 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3558 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128056113 | G | GA | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-39 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3711 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128056186 | A | AG | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-39 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3784 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128056254 | G | GA | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-40 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 3852 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128056472 | G | GT | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-42 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 4070 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128056493 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(89): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(2): Show |
92 | 285 | 0.3228 | 1 | c.-42 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 4091 | chrX | TogoVar | |||||||
ACTRT1_chrX_128045962_128057403 | 128056558 | G | GT | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 1 | c.-43 others(12): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 4156 | chrX | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016489 | G | GC | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02622.hp2 HG02922.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0000 a0004c0005t0001g0000 |
7 | 366 | 0.0191 | 1 | c.-51 others(12): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4977 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016567 | A | AG | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01123.hp1 others(61): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(6): Show |
64 | 366 | 0.1749 | 1 | c.-51 others(12): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4899 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016567 | A | AT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02451.hp2 others(18): Show |
a0001a0004a0005 | a0001c0001a0001c0007a0004c0005others(1): Show | a0001c0001t0001a0001c0007t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0000 a0001c0007t0001g0000 a0004c0005t0001g0000 others(1): Show |
21 | 366 | 0.0574 | 1 | c.-51 others(12): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4899 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3020120 | T | TG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(58): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0005g0000 others(1): Show |
61 | 366 | 0.1667 | 1 | c.-15 others(12): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1346 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3022019 | G | GC | frameshift_variant | HIGH | NA18991.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0000 | 1 | 366 | 0.0027 | 1 | c.336 others(4): Show |
p.Ser others(5): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 557/1437 | 337/1134 | 113/377 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTRT2_chr1_3016467_3027903 | 3022085 | G | GC | frameshift_variant | HIGH | NA19057.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0000 | 1 | 366 | 0.0027 | 1 | c.402 others(4): Show |
p.Ala others(5): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 623/1437 | 403/1134 | 135/377 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
ACTRT2_chr1_3016467_3027903 | 3027626 | C | CG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(76): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0003c0003t0001g0000 others(2): Show |
79 | 366 | 0.2159 | 1 | c.*48 others(12): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4724 | chr1 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169763630 | G | GT | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044 a0001c0001t0003g0010 |
5 | 418 | 0.0120 | 1 | c.*38 others(12): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 3290 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169765773 | T | TG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG01243.hp2 others(46): Show |
a0002a0003a0006 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0004t0001others(2): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 others(9): Show |
49 | 418 | 0.1172 | 1 | c.*16 others(12): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1147 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169767654 | T | TC | frameshift_variant | HIGH | NA19075.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0040 | 1 | 418 | 0.0024 | 1 | c.896 others(4): Show |
p.Ser others(5): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2/2 | 937/1671 | 896/1119 | 299/372 | chr3 | TogoVar | |||
ACTRT3_chr3_169761921_169774561 | 169768312 | T | TC | frameshift_variant | HIGH | NA19003.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0042 | 1 | 418 | 0.0024 | 1 | c.238 others(4): Show |
p.Asp others(4): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2/2 | 279/1671 | 238/1119 | 80/372 | chr3 | TogoVar | |||
ACTRT3_chr3_169761921_169774561 | 169768527 | A | AT | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG00735.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0015 others(10): Show |
62 | 418 | 0.1483 | 1 | c.201 others(8): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169771340 | T | TA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG01243.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0045 a0003c0003t0001g0009 |
9 | 418 | 0.0215 | 1 | c.-18 others(12): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1780 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169772316 | C | CT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0010 others(1): Show |
15 | 418 | 0.0359 | 1 | c.-27 others(12): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2756 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169774228 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(154): Show |
a0001a0008a0009others(2): Show | a0001c0001a0008c0012a0009c0010others(2): Show | a0001c0001t0001a0008c0012t0001a0009c0010t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(10): Show |
157 | 418 | 0.3756 | 1 | c.-47 others(6): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 4668 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51953594 | T | TA | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(124): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0121 others(112): Show |
127 | 324 | 0.3920 | 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 | 51957441 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG02258.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 others(3): Show |
6 | 324 | 0.0185 | 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 | 51959914 | G | GT | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp2 HG01169.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0141 a0001c0001t0001g0262 a0001c0001t0001g0263 others(20): Show |
27 | 324 | 0.0833 | 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 | 51963237 | A | AT | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03209.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0026a0001c0004t0013 | a0001c0001t0002g0108 a0001c0001t0002g0279 a0001c0001t0026g0278 others(2): Show |
6 | 324 | 0.0185 | 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 | 51968740 | G | GC | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0111 a0001c0001t0015g0112 a0001c0001t0015g0288 |
3 | 324 | 0.0093 | 1 | c.92- others(8): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51975306 | A | AC | frameshift_variant | HIGH | NA18987.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0053 | 1 | 324 | 0.0031 | 1 | c.134 others(4): Show |
p.Cys others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/9 | 180/4531 | 135/1518 | 45/505 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVR1B_chr12_51946699_52002078 | 51975446 | C | CA | frameshift_variant | HIGH | NA18987.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0053 | 1 | 324 | 0.0031 | 1 | c.275 others(4): Show |
p.Asn others(4): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/9 | 321/4531 | 276/1518 | 92/505 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
ACVR1B_chr12_51946699_52002078 | 51976172 | G | GA | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(177): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0009 others(161): Show |
180 | 324 | 0.5556 | 1 | c.332 others(16): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 2/8 | chr12 | TogoVar |