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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR3B_chr7_152754752_152860378 | 152825304 | T | TTTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0184 a0001c0001t0001g0185 others(71): Show |
75 | 308 | 0.2435 | 5 | 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 | 150246781 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG01952.hp1 HG02055.hp2 HG02109.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0201 others(20): Show |
24 | 292 | 0.0822 | 5 | c.*82 others(14): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 430 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150264569 | G | GTATAT | intron_variant | MODIFIER | HG03486.hp1 NA18977.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0199 a0002c0002t0001g0142 |
3 | 292 | 0.0103 | 5 | c.565 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150273283 | C | CTGACT | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02257.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0015 a0002c0002t0001g0115 a0002c0002t0001g0116 others(6): Show |
9 | 267 | 0.0337 | 5 | c.564 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150327819 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02055.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0258 a0002c0002t0001g0259 |
6 | 13 | 0.4615 | 5 | c.-44 others(16): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 4275 | chr7 | TogoVar | |||||||
ACTR3_chr2_113885089_113967596 | 113933677 | A | ATTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01256.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0006a0001c0001t0007a0001c0001t0013others(2): Show | a0001c0001t0006g0006 a0001c0001t0006g0222 a0001c0001t0006g0223 others(6): Show |
11 | 219 | 0.0502 | 5 | c.433 others(20): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR6_chr12_100195815_100229424 | 100228471 | T | TGGGCA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0026 others(3): Show |
13 | 240 | 0.0542 | 5 | c.*45 others(16): Show |
ACTR6 | ENSG00000075089.10 | transcript | ENST00000188312.7 | protein_coding | 4048 | chr12 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157562459 | A | AAAAAT | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp1 HG02080.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0024others(9): Show | a0001c0001t0001g0147 a0001c0001t0001g0194 a0001c0002t0001g0027 others(14): Show |
17 | 66 | 0.2576 | 5 | c.305 others(22): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157576203 | C | CTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0023a0001c0002t0038others(1): Show | a0001c0002t0001g0063 a0001c0002t0001g0074 a0001c0002t0001g0084 others(3): Show |
6 | 97 | 0.0619 | 5 | c.304 others(24): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157755523 | A | AATACC | intron_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0062 others(10): Show |
13 | 73 | 0.1781 | 5 | c.126 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826697 | G | GAAGGA | intron_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0101 a0001c0002t0001g0134 a0001c0002t0004g0173 |
3 | 28 | 0.1071 | 5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157826864 | G | GGGAAA | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG01891.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0131 others(43): Show |
46 | 162 | 0.2840 | 5 | c.-18 others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01255.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0082 others(6): Show |
9 | 20 | 0.4500 | 5 | c.-18 others(26): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845348 | G | GCCCCC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(49): Show |
a0001a0002a0003 | a0001c0002a0002c0007a0003c0006 | a0001c0002t0001a0001c0002t0007a0002c0007t0001others(1): Show | a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0048 others(45): Show |
52 | 98 | 0.5306 | 5 | c.55+ others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51914716 | T | TTTTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(183): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0033 others(80): Show |
186 | 342 | 0.5439 | 5 | c.772 others(20): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACYP1_chr14_75048243_75069024 | 75062101 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0046 |
10 | 24 | 0.4167 | 5 | c.84+ others(20): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01516.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0016others(1): Show | a0001c0002t0002g0052 a0001c0002t0002g0058 a0001c0002t0002g0059 others(10): Show |
13 | 69 | 0.1884 | 5 | c.-37 others(16): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53989965 | C | CCTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0113 a0001c0001t0001g0114 others(39): Show |
42 | 270 | 0.1556 | 5 | c.62+ others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54017253 | G | GTTTCT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(74): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(8): Show | a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0004g0126 others(74): Show |
77 | 270 | 0.2852 | 5 | c.63- others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54027837 | C | CTTTCT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0074 a0001c0002t0003g0079 a0001c0002t0003g0084 others(12): Show |
15 | 112 | 0.1339 | 5 | c.63- others(22): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTT | intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0267 a0001c0002t0003g0080 a0001c0002t0003g0081 others(2): Show |
5 | 95 | 0.0526 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54197942 | A | ATATTG | intron_variant | MODIFIER | HG01358.hp1 HG02004.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0114 a0001c0001t0001g0224 a0001c0001t0004g0119 others(3): Show |
6 | 103 | 0.0583 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202706 | C | CTTTTT | intron_variant | MODIFIER | HG01952.hp2 HG02572.hp2 HG02886.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0125 a0001c0001t0001g0197 a0001c0001t0001g0204 others(11): Show |
14 | 33 | 0.4242 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54210414 | A | AAAACT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(7): Show | a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 others(59): Show |
62 | 270 | 0.2296 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54219905 | A | ATTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp1 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0146 a0001c0001t0001g0171 a0001c0001t0004g0184 others(5): Show |
8 | 149 | 0.0537 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54221520 | C | CTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG02630.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0131 a0001c0001t0001g0267 a0001c0001t0004g0165 others(4): Show |
7 | 103 | 0.0680 | 5 | c.404 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54256816 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(8): Show | a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0130 others(63): Show |
66 | 263 | 0.2510 | 5 | c.405 others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17202773 | C | CTTTCT | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0001g0059 others(53): Show |
56 | 403 | 0.1390 | 5 | c.753 others(20): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01081.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0146 others(23): Show |
26 | 33 | 0.7879 | 5 | c.586 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58655678 | A | ATATAC | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0137 others(5): Show |
8 | 337 | 0.0237 | 5 | c.585 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58655704 | A | ATATAC | intron_variant | MODIFIER | HG03195.hp1 HG03225.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0031 | a0001c0001t0029g0185 a0001c0001t0029g0186 a0001c0001t0031g0279 others(1): Show |
4 | 339 | 0.0118 | 5 | c.585 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58655710 | A | ATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02027.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0044others(1): Show | a0001c0001t0001g0178 a0001c0001t0002g0134 a0001c0001t0002g0148 others(3): Show |
6 | 204 | 0.0294 | 5 | c.585 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58683859 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01243.hp2 HG01952.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(13): Show | a0001c0001t0003g0189 a0001c0001t0003g0238 a0001c0001t0004g0235 others(21): Show |
24 | 97 | 0.2474 | 5 | c.207 others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58726567 | C | CAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02683.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0014others(7): Show | a0001c0001t0007g0293 a0001c0001t0007g0307 a0001c0001t0007g0322 others(12): Show |
15 | 23 | 0.6522 | 5 | c.56- others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58727784 | T | TCAAAA | intron_variant | MODIFIER | HG03225.hp2 HG03453.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0096 a0001c0001t0019g0097 a0001c0001t0019g0098 |
3 | 340 | 0.0088 | 5 | c.56- others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM11_chr17_44753988_44786846 | 44765610 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp1 HG02109.hp2 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(4): Show | a0001c0001t0001g0150 a0001c0001t0005g0030 a0001c0001t0005g0132 others(17): Show |
25 | 62 | 0.4032 | 5 | c.238 others(22): Show |
ADAM11 | ENSG00000073670.14 | transcript | ENST00000200557.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126020992 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp2 HG02027.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0005others(3): Show | a0001c0002t0011a0001c0003t0005a0002c0005t0004others(3): Show | a0001c0002t0011g0150 a0001c0003t0005g0130 a0002c0005t0004g0072 others(4): Show |
7 | 62 | 0.1129 | 5 | c.253 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 21/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126037724 | G | GTTCTC | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02486.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0037others(4): Show | a0001c0002t0010a0001c0002t0024a0001c0004t0010others(5): Show | a0001c0002t0010g0201 a0001c0002t0010g0213 a0001c0002t0024g0001 others(6): Show |
9 | 250 | 0.0360 | 5 | c.234 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 20/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126082363 | G | GTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG00738.hp1 others(41): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(25): Show | a0001c0002t0001g0085 a0001c0002t0001g0144 a0001c0002t0001g0245 others(41): Show |
44 | 85 | 0.5176 | 5 | c.114 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126113658 | C | CAAAAA | intron_variant | MODIFIER | NA18989.hp1 NA18994.hp2 NA19063.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0005 | a0001c0003t0003a0001c0003t0005a0002c0001t0018others(2): Show | a0001c0003t0003g0247 a0001c0003t0005g0230 a0002c0001t0018g0162 others(2): Show |
5 | 228 | 0.0219 | 5 | c.604 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126138817 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0004others(18): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0009others(32): Show | a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0147 others(47): Show |
50 | 191 | 0.2618 | 5 | c.340 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126138818 | T | TCTTTC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(15): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0018others(31): Show | a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 others(53): Show |
56 | 233 | 0.2403 | 5 | c.340 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126138823 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01109.hp2 others(64): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0003a0001c0004others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(41): Show | a0001c0002t0001g0144 a0001c0002t0001g0245 a0001c0002t0002g0022 others(64): Show |
67 | 85 | 0.7882 | 5 | c.340 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126159307 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01099.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(6): Show | a0001c0002t0008a0001c0002t0009a0001c0002t0010others(12): Show | a0001c0002t0008g0127 a0001c0002t0009g0013 a0001c0002t0010g0201 others(16): Show |
19 | 62 | 0.3065 | 5 | c.261 others(22): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126174008 | A | ATTTTT | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02559.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0019a0001c0020others(4): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(7): Show | a0001c0002t0002g0022 a0001c0002t0002g0203 a0001c0002t0008g0012 others(8): Show |
11 | 128 | 0.0859 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126187326 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(97): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0004others(32): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(63): Show | a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 others(97): Show |
100 | 202 | 0.4951 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126193904 | G | GAAATA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(58): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(40): Show | a0001c0002t0001g0038 a0001c0002t0001g0082 a0001c0002t0001g0084 others(58): Show |
61 | 134 | 0.4552 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126206854 | T | TGCGGG | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01175.hp2 others(11): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0001c0008others(8): Show | a0001c0002t0001a0001c0002t0007a0001c0003t0003others(10): Show | a0001c0002t0001g0147 a0001c0002t0007g0250 a0001c0003t0003g0219 others(11): Show |
14 | 116 | 0.1207 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126212546 | C | CTTTAT | intron_variant | MODIFIER | HG01346.hp1 HG01358.hp2 HG01517.hp2 others(8): Show |
a0001a0002a0005others(2): Show | a0001c0003a0001c0010a0002c0001others(3): Show | a0001c0003t0003a0001c0010t0001a0002c0001t0001others(6): Show | a0001c0003t0003g0193 a0001c0010t0001g0145 a0002c0001t0001g0152 others(8): Show |
11 | 239 | 0.0460 | 5 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126237331 | T | TTATTC | intron_variant | MODIFIER | HG02027.hp1 HG02886.hp2 NA18942.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0010others(1): Show | a0001c0002t0018a0001c0004t0010a0001c0010t0002others(1): Show | a0001c0002t0018g0108 a0001c0004t0010g0199 a0001c0010t0002g0091 others(1): Show |
4 | 249 | 0.0161 | 5 | c.260 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar |