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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTRT2_chr1_3016467_3027903 | 3016604 | A | AGGGAGGG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(9): Show |
120 | 339 | 0.3540 | 7 | c.-50 others(18): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4862 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016662 | A | AGGGAGGG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(8): Show |
107 | 346 | 0.3092 | 7 | c.-50 others(18): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4804 | chr1 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG02083.hp1 others(21): Show |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0001a0001c0002t0005a0002c0007t0001 | a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 others(18): Show |
24 | 82 | 0.2927 | 7 | c.-15 others(16): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147912015 | A | AACTAGCT | intron_variant | MODIFIER | HG00408.hp1 NA18959.hp2 NA18974.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0123 others(2): Show |
5 | 336 | 0.0149 | 7 | c.529 others(24): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP1_chr14_75048243_75069024 | 75057964 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(12): Show |
53 | 64 | 0.8281 | 7 | c.85- others(22): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062101 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0021 |
6 | 20 | 0.3000 | 7 | c.84+ others(22): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0124 others(35): Show |
38 | 94 | 0.4043 | 7 | c.-37 others(18): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54039819 | T | TGTGTGTG | intron_variant | MODIFIER | HG00738.hp1 HG01934.hp2 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0187 a0001c0001t0001g0249 a0001c0001t0004g0184 |
3 | 35 | 0.0857 | 7 | c.63- others(24): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0009 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0264 others(3): Show |
6 | 96 | 0.0625 | 7 | c.404 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201594 | C | CTTTCTTT | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0185 a0001c0002t0002g0035 a0001c0002t0005g0038 others(1): Show |
4 | 183 | 0.0219 | 7 | c.404 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54202405 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02615.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0225 a0001c0001t0001g0251 a0001c0001t0001g0263 others(12): Show |
15 | 175 | 0.0857 | 7 | c.404 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54266590 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01928.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0117 a0001c0001t0001g0160 a0001c0001t0001g0249 others(5): Show |
8 | 13 | 0.6154 | 7 | c.405 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17178722 | A | AGAGTGAT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00544.hp2 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(32): Show | a0001c0001t0005g0066 a0001c0001t0005g0103 a0001c0001t0005g0105 others(120): Show |
123 | 406 | 0.3030 | 7 | c.*27 others(18): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 67 | chr22 | TogoVar | |||||||
ADA2_chr22_17173790_17224435 | 17200882 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01192.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0086 a0001c0001t0001g0153 a0001c0001t0001g0162 others(20): Show |
23 | 276 | 0.0833 | 7 | c.753 others(24): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | |||||||
ADAD2_chr16_84186157_84202166 | 84200094 | A | ACTCCGTC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(269): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0001c0007others(23): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0004others(30): Show | a0001c0002t0001g0001 a0001c0002t0001g0054 a0001c0004t0003g0006 others(60): Show |
272 | 468 | 0.5812 | 7 | c.*31 others(18): Show |
ADAD2 | ENSG00000140955.11 | transcript | ENST00000315906.10 | protein_coding | 2929 | chr16 | TogoVar | |||||||
ADAL_chr15_43325672_43359569 | 43326034 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01071.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0004others(1): Show | a0001c0001t0004a0001c0006t0004a0002c0004t0004others(1): Show | a0001c0001t0004g0029 a0001c0001t0004g0058 a0001c0001t0004g0074 others(9): Show |
13 | 98 | 0.1327 | 7 | c.-52 others(18): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 4637 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58647248 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG02004.hp2 HG02071.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0025others(6): Show | a0001c0001t0001g0100 a0001c0001t0001g0123 a0001c0001t0001g0128 others(17): Show |
20 | 27 | 0.7407 | 7 | c.586 others(24): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58655702 | A | ATATATAC | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG02683.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0171 others(5): Show |
8 | 335 | 0.0239 | 7 | c.585 others(24): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 5/15 | chr15 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58726567 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00639.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0109 others(38): Show |
41 | 49 | 0.8367 | 7 | c.56- others(22): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126082363 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01169.hp1 HG01243.hp1 others(2): Show |
a0001a0002a0003 | a0001c0004a0001c0013a0002c0017others(2): Show | a0001c0004t0014a0001c0013t0001a0002c0017t0016others(2): Show | a0001c0004t0014g0121 a0001c0013t0001g0217 a0002c0017t0016g0189 others(2): Show |
5 | 46 | 0.1087 | 7 | c.114 others(28): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126088724 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(38): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(90): Show | a0001c0002t0001g0031 a0001c0002t0001g0084 a0001c0002t0001g0085 others(177): Show |
180 | 247 | 0.7287 | 7 | c.114 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126121113 | A | ATATATAG | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01169.hp2 others(7): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0008a0001c0003t0003a0001c0003t0004others(4): Show | a0001c0002t0008g0127 a0001c0002t0008g0138 a0001c0002t0008g0141 others(7): Show |
10 | 140 | 0.0714 | 7 | c.417 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126121167 | A | ATATATAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(103): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0003a0001c0004others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(51): Show | a0001c0002t0001g0031 a0001c0002t0001g0038 a0001c0002t0001g0082 others(103): Show |
106 | 248 | 0.4274 | 7 | c.417 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126159307 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00738.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0041a0001c0003t0003a0001c0004t0006others(6): Show | a0001c0002t0041g0233 a0001c0003t0003g0219 a0001c0004t0006g0107 others(6): Show |
9 | 52 | 0.1731 | 7 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM12_chr10_126007391_126393477 | 126166494 | T | TTTTTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0004others(20): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(41): Show | a0001c0002t0001g0038 a0001c0002t0001g0139 a0001c0002t0001g0144 others(67): Show |
70 | 250 | 0.2800 | 7 | c.261 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | |||||||
ADAM15_chr1_155046316_155067775 | 155046600 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01069.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0046 others(2): Show |
9 | 30 | 0.3000 | 7 | c.-47 others(18): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 4715 | chr1 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(10): Show | a0001c0001t0001g0035 a0001c0001t0004g0042 a0001c0001t0004g0084 others(13): Show |
16 | 109 | 0.1468 | 7 | c.957 others(22): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9546715 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(53): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(121): Show |
125 | 214 | 0.5841 | 7 | c.98- others(22): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39654153 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0014t0001 | a0001c0002t0001g0006 a0001c0002t0001g0160 a0001c0002t0001g0163 others(1): Show |
4 | 338 | 0.0118 | 7 | c.123 others(26): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 12/19 | chr8 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01071.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0097 others(6): Show |
9 | 56 | 0.1607 | 7 | c.247 others(26): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT | intron_variant | MODIFIER | HG01074.hp2 HG02896.hp1 HG03139.hp1 |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0015a0001c0018t0024a0002c0002t0008 | a0001c0001t0015g0184 a0001c0018t0024g0112 a0002c0002t0008g0217 |
3 | 102 | 0.0294 | 7 | c.323 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24304930 | A | AAAAATAG | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp2 others(56): Show |
a0001a0003a0005others(2): Show | a0001c0002a0001c0034a0003c0006others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0002t0001g0003 a0001c0002t0001g0038 a0001c0002t0001g0280 others(47): Show |
59 | 342 | 0.1725 | 7 | c.150 others(24): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39185346 | A | AAAAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0149 a0001c0001t0001g0150 others(131): Show |
136 | 137 | 0.9927 | 7 | c.916 others(24): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3669893 | A | ACACCACC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(354): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0006a0001c0012others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(283): Show |
357 | 460 | 0.7761 | 7 | c.224 others(24): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 19/21 | chr20 | TogoVar | |||||||
ADAM33_chr20_3662975_3687010 | 3681606 | T | TGGGCTGG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(215): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0006a0001c0012others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(167): Show |
218 | 460 | 0.4739 | 7 | c.97+ others(20): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 39009964 | A | AAACAAAC | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG02897.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0001a0002c0002t0002a0002c0010t0002 | a0001c0001t0001g0068 a0001c0001t0001g0103 a0002c0002t0002g0194 others(3): Show |
6 | 197 | 0.0305 | 7 | c.196 others(24): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 2/21 | chr8 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8585059 | G | GAGGGGGC | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(52): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0056 a0001c0002t0001g0005 a0001c0002t0001g0007 others(50): Show |
55 | 381 | 0.1444 | 7 | c.304 others(21): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 24/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8612550 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02809.hp2 others(3): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0184 a0001c0002t0001g0130 a0001c0002t0002g0131 others(3): Show |
6 | 60 | 0.1000 | 7 | c.-21 others(18): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 1836 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33536597 | A | AAGTGAAT | intron_variant | MODIFIER | HG02145.hp2 HG02818.hp2 HG02976.hp2 others(1): Show |
a0002a0023a0025 | a0002c0002a0023c0029a0025c0033 | a0002c0002t0001a0023c0029t0001a0025c0033t0001 | a0002c0002t0001g0044 a0002c0002t0001g0196 a0023c0029t0001g0039 others(1): Show |
4 | 222 | 0.0180 | 7 | c.444 others(26): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 22/23 | chr5 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133458555 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00733.hp2 others(19): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0027others(13): Show | a0001c0001t0001a0001c0005t0001a0001c0027t0001others(13): Show | a0001c0001t0001g0148 a0001c0001t0001g0168 a0001c0005t0001g0257 others(17): Show |
22 | 84 | 0.2619 | 7 | c.391 others(24): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70684840 | G | GCCTGGGT | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp2 others(7): Show |
a0001a0010a0012others(2): Show | a0001c0004a0001c0019a0010c0043others(5): Show | a0001c0004t0003a0001c0019t0003a0010c0043t0031others(6): Show | a0001c0004t0003g0330 a0001c0019t0003g0220 a0010c0043t0031g0013 others(7): Show |
10 | 314 | 0.0318 | 7 | c.522 others(24): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5196237 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG01256.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0023a0002c0076a0003c0006others(4): Show | a0001c0023t0001a0001c0023t0006a0001c0023t0015others(6): Show | a0001c0023t0001g0228 a0001c0023t0006g0226 a0001c0023t0015g0223 others(6): Show |
9 | 34 | 0.2647 | 7 | c.131 others(26): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5208189 | A | AGTGGAAC | intron_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02886.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0080a0004c0009others(1): Show | a0001c0001t0008a0002c0080t0001a0004c0009t0015others(1): Show | a0001c0001t0008g0090 a0002c0080t0001g0207 a0004c0009t0015g0140 others(1): Show |
4 | 330 | 0.0121 | 7 | c.145 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0010a0001c0022others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0023 a0001c0001t0002g0045 a0001c0001t0002g0072 others(75): Show |
78 | 291 | 0.2680 | 7 | c.318 others(26): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 99977400 | A | ATATATAT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0003 | a0003c0006 | a0003c0006t0021 | a0003c0006t0021g0088 a0003c0006t0021g0089 |
2 | 171 | 0.0117 | 7 | c.295 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100089837 | T | TGGGGGGA | intron_variant | MODIFIER | HG02970.hp2 HG03130.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0021a0002c0001a0002c0054others(2): Show | a0001c0021t0016a0002c0001t0016a0002c0054t0014others(2): Show | a0001c0021t0016g0113 a0002c0001t0016g0205 a0002c0054t0014g0002 others(2): Show |
5 | 226 | 0.0221 | 7 | c.213 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100094087 | G | GAAAAACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(73): Show |
a0001a0002a0003others(5): Show | a0001c0005a0001c0007a0001c0010others(35): Show | a0001c0005t0002a0001c0005t0005a0001c0005t0009others(57): Show | a0001c0005t0002g0075 a0001c0005t0002g0139 a0001c0005t0005g0104 others(73): Show |
76 | 226 | 0.3363 | 7 | c.213 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100209131 | A | AAAAAAGG | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01257.hp2 others(15): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0005a0001c0007others(11): Show | a0001c0002t0012a0001c0005t0012a0001c0007t0006others(14): Show | a0001c0002t0012g0106 a0001c0005t0012g0211 a0001c0007t0006g0202 others(15): Show |
18 | 145 | 0.1241 | 7 | c.107 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 7/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77334767 | A | AAATATAC | intron_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG03195.hp1 others(1): Show |
a0004a0021 | a0004c0003a0004c0029a0021c0030 | a0004c0003t0005a0004c0003t0011a0004c0029t0022others(1): Show | a0004c0003t0005g0317 a0004c0003t0011g0155 a0004c0029t0022g0305 others(1): Show |
4 | 211 | 0.0190 | 7 | c.185 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 12/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(46): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0016a0001c0024others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(30): Show | a0001c0001t0001g0119 a0001c0001t0002g0037 a0001c0001t0002g0232 others(46): Show |
49 | 219 | 0.2237 | 7 | c.495 others(26): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar |