regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3B_chr7_152754752_152860378 | 152799511 | AATT | A | intron_variant | MODIFIER | HG02630.hp2 HG03490.hp1 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0302a0001c0001t0002g0157a0001c0001t0002g0158others(3): Show | 6 | 310 | 0.0194 | -3 | c.101 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152817638 | TCTC | T | intron_variant | MODIFIER | NA18951.hp1 NA19007.hp1 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0222a0001c0001t0001g0223others(1): Show | 4 | 310 | 0.0129 | -3 | c.540 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152833610 | TAAG | T | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0298a0001c0001t0001g0299a0001c0001t0001g0300others(2): Show | 5 | 310 | 0.0161 | -3 | c.951 others(20): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150255242 | ATTT | A | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0200a0002c0002t0001g0114a0002c0002t0001g0118others(4): Show | 7 | 294 | 0.0238 | -3 | c.565 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150265392 | TAAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp1 others(79): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0120a0001c0001t0001g0200a0001c0001t0001g0210others(75): Show | 82 | 294 | 0.2789 | -3 | c.565 others(22): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150278891 | CCAG | C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116a0002c0002t0001g0117a0002c0002t0001g0121others(1): Show | 4 | 294 | 0.0136 | -3 | c.564 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150297351 | TTAA | T | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG02886.hp2 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0001a0002c0002t0001a0002c0002t0006others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0120a0002c0002t0001g0118others(5): Show | 8 | 294 | 0.0272 | -3 | c.-51 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150297851 | CAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02055.hp1 others(5): Show |
a0002a0008 | a0002c0002a0008c0011 | a0002c0002t0001a0008c0011t0001 | a0002c0002t0001g0001a0002c0002t0001g0259a0002c0002t0001g0260others(2): Show | 8 | 294 | 0.0272 | -3 | c.-51 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150315016 | AAAT | A | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp2 HG01978.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0103others(2): Show | 5 | 294 | 0.0170 | -3 | c.-52 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150316480 | GTTA | G | intron_variant | MODIFIER | HG00621.hp1 HG02559.hp2 NA18991.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0055a0001c0001t0001g0057a0001c0001t0001g0058others(4): Show | 7 | 294 | 0.0238 | -3 | c.-52 others(20): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113896008 | GCCA | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG02015.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0017others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0024others(38): Show | 44 | 390 | 0.1128 | -3 | c.44+ others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3_chr2_113885089_113967596 | 113909606 | TTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(3): Show | a0001c0001t0004g0001a0001c0001t0004g0017a0001c0001t0004g0040others(47): Show | 55 | 390 | 0.1410 | -3 | c.45- others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3_chr2_113885089_113967596 | 113912895 | TAGA | T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(139): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0021others(132): Show | 142 | 390 | 0.3641 | -3 | c.45- others(16): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3_chr2_113885089_113967596 | 113926895 | AATT | A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00738.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0030 | a0001c0001t0003g0003a0001c0001t0003g0009a0001c0001t0003g0010others(48): Show | 62 | 390 | 0.1590 | -3 | c.226 others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR3_chr2_113885089_113967596 | 113933650 | TAAG | T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0024 | a0001c0001t0007g0212a0001c0001t0007g0213a0001c0001t0007g0214others(14): Show | 17 | 390 | 0.0436 | -3 | c.433 others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113942470 | GTTT | G | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0206a0001c0001t0004g0207a0001c0001t0004g0208others(1): Show | 4 | 390 | 0.0103 | -3 | c.858 others(18): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR5_chr20_38743460_38777520 | 38752566 | GAGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(109): Show |
a0002a0008a0010 | a0002c0002a0008c0011a0010c0012 | a0002c0002t0001a0002c0002t0002a0008c0011t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0016a0002c0002t0001g0017others(35): Show | 112 | 366 | 0.3060 | -3 | c.775 others(18): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACTR5_chr20_38743460_38777520 | 38776912 | TGTG | T | downstream_gene_variant | MODIFIER | HG01361.hp1 HG01433.hp2 HG01515.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001a0002c0002t0001g0016a0002c0002t0001g0023others(11): Show | 25 | 366 | 0.0683 | -3 | c.*50 others(14): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4393 | chr20 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100209255 | AGGT | A | intron_variant | MODIFIER | HG02486.hp2 HG02717.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005a0001c0002t0002g0034a0001c0002t0002g0035 | 6 | 242 | 0.0248 | -3 | c.380 others(18): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTR6_chr12_100195815_100229424 | 100221514 | CTTA | C | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0027others(6): Show | 14 | 242 | 0.0579 | -3 | c.106 others(22): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTR6_chr12_100195815_100229424 | 100228606 | GAAA | G | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01884.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0134a0001c0001t0001g0136others(14): Show | 22 | 242 | 0.0909 | -3 | c.*46 others(14): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4183 | chr12 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53863821 | ATTT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00639.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(16): Show | 69 | 432 | 0.1597 | -3 | c.*48 others(14): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3244 | chr3 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53879486 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0021a0001c0001t0003g0088others(4): Show | 38 | 432 | 0.0880 | -3 | c.294 others(18): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 2/12 | chr3 | TogoVar | ||||||
ACTRT1_chrX_128045962_128057403 | 128048211 | TTGA | T | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | -3 | c.*28 others(14): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2750 | chrX | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3016517 | AGGG | A | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01168.hp2 others(55): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(6): Show | 58 | 366 | 0.1585 | -3 | c.-51 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4949 | chr1 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3016531 | AAAG | A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02451.hp2 HG03098.hp1 others(5): Show |
a0001a0005 | a0001c0007a0005c0006 | a0001c0007t0001a0005c0006t0001 | a0001c0007t0001g0000a0005c0006t0001g0000 | 8 | 366 | 0.0219 | -3 | c.-51 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4935 | chr1 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3017570 | AAGG | A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(5): Show | a0001c0001t0001g0000a0001c0004t0001g0000a0001c0004t0002g0000others(5): Show | 85 | 366 | 0.2322 | -3 | c.-41 others(14): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 3896 | chr1 | TogoVar | ||||||
ACTRT2_chr1_3016467_3027903 | 3021843 | CAGA | C | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0005 | a0002c0002t0001g0000a0002c0002t0003g0000a0002c0002t0005g0000 | 59 | 366 | 0.1612 | -3 | c.163 others(10): Show |
p.Lys others(5): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 1/1 | 383/1437 | 163/1134 | 55/377 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
ACTRT3_chr3_169761921_169774561 | 169771302 | TATA | T | upstream_gene_variant | MODIFIER | HG01358.hp2 HG01433.hp1 HG01884.hp2 others(24): Show |
a0001a0007a0009 | a0001c0001a0007c0009a0009c0007 | a0001c0001t0001a0001c0001t0002a0007c0009t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0027a0001c0001t0001g0042others(3): Show | 27 | 418 | 0.0646 | -3 | c.-17 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1742 | chr3 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169772316 | CTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01167.hp2 HG01243.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0022others(8): Show | 23 | 418 | 0.0550 | -3 | c.-27 others(14): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 2756 | chr3 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51951713 | TGCG | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(270): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0019others(239): Show | 273 | 324 | 0.8426 | -3 | c.-11 others(9): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/9 | 9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ACVR1B_chr12_51946699_52002078 | 51961373 | ATGT | A | intron_variant | MODIFIER | HG01106.hp1 HG01496.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0188 | 3 | 324 | 0.0093 | -3 | c.91+ others(18): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51992876 | CTAA | C | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0111a0001c0001t0015g0112a0001c0001t0015g0288 | 3 | 324 | 0.0093 | -3 | c.139 others(20): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAA | T | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01081.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0186a0001c0001t0001g0208others(13): Show | 17 | 324 | 0.0525 | -3 | c.139 others(20): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51994344 | TGGA | T | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0140a0001c0001t0011g0146a0001c0001t0011g0147 | 3 | 324 | 0.0093 | -3 | c.*23 others(12): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 9/9 | 236 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
ACVR1B_chr12_51946699_52002078 | 52000221 | TGTG | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01358.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0180 | 3 | 324 | 0.0093 | -3 | c.*61 others(14): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 3144 | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157555101 | CTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02683.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0005a0002c0003t0002others(4): Show | a0001c0002t0001g0027a0001c0002t0001g0030a0001c0002t0005g0033others(10): Show | 13 | 216 | 0.0602 | -3 | c.544 others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157556657 | CTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(36): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(8): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0044others(36): Show | 39 | 216 | 0.1806 | -3 | c.305 others(18): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157583790 | TAGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(3): Show | a0001c0002t0001g0055a0001c0002t0001g0056a0001c0002t0001g0110others(5): Show | 8 | 216 | 0.0370 | -3 | c.304 others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157599314 | CAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02486.hp2 HG02717.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0024others(2): Show | a0001c0001t0003g0058a0001c0002t0001g0112a0001c0002t0024g0108others(2): Show | 5 | 216 | 0.0232 | -3 | c.74- others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157616918 | CAGA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00621.hp2 others(31): Show |
a0001a0002 | a0001c0002a0001c0010a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(2): Show | a0001c0002t0001g0041a0001c0002t0001g0042a0001c0002t0001g0044others(31): Show | 34 | 216 | 0.1574 | -3 | c.73+ others(20): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157632857 | CTTT | C | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG01884.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0014others(3): Show | a0001c0001t0001g0198a0001c0001t0001g0210a0001c0001t0001g0211others(7): Show | 10 | 216 | 0.0463 | -3 | c.-42 others(14): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3994 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157816603 | GTAA | G | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01891.hp2 others(40): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0031a0001c0002t0001g0032a0001c0002t0001g0098others(40): Show | 43 | 174 | 0.2471 | -3 | c.-8+ others(18): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157830733 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp2 HG01978.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0091others(2): Show | 5 | 174 | 0.0287 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157843469 | CATA | C | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0040a0001c0001t0001g0052a0001c0001t0001g0056others(9): Show | 12 | 174 | 0.0690 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157851855 | AAAC | A | intron_variant | MODIFIER | HG02074.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115a0001c0001t0002g0050 | 2 | 174 | 0.0115 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157851900 | CACA | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01243.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0041a0001c0001t0001g0079a0001c0001t0001g0127others(17): Show | 20 | 174 | 0.1149 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157854931 | CAGG | C | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0009a0001c0004t0021 | a0001c0002t0003g0158a0001c0002t0003g0159a0001c0004t0009g0083others(3): Show | 6 | 174 | 0.0345 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTG | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0003a0001c0002t0011others(2): Show | a0001c0002t0001g0029a0001c0002t0001g0035a0001c0002t0001g0036others(5): Show | 8 | 174 | 0.0460 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTT | C | intron_variant | MODIFIER | HG01169.hp2 HG01891.hp1 HG01978.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(6): Show | a0001c0001t0001g0056a0001c0001t0001g0114a0001c0001t0001g0116others(13): Show | 16 | 174 | 0.0920 | -3 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar |