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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN1_chr14_68869128_68984302 | 68950462 | G | GTGTGTGT others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 284 | 0.0035 | 28 | c.106 others(47): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721015 | G | GGTTTTTT others(21): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18964.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0011a0001c0001t0003g0143a0001c0001t0018g0303 | 3 | 344 | 0.0087 | 28 | c.448 others(43): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0007others(2): Show | a0001c0001t0001g0188a0001c0001t0001g0276a0001c0001t0001g0290others(8): Show | 11 | 344 | 0.0320 | 28 | c.876 others(41): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236737315 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0052 | 1 | 344 | 0.0029 | 28 | c.876 others(43): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38673514 | T | TATATATT others(21): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 314 | 0.0032 | 28 | c.162 others(47): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38736008 | A | AGGTCTCG others(21): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 314 | 0.0032 | 28 | c.*65 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38736014 | C | CGGGGGTC others(21): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0249 | 1 | 314 | 0.0032 | 28 | c.*65 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4426 | chr19 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150259291 | A | AAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0039a0002c0002t0006g0287 | 2 | 294 | 0.0068 | 28 | c.565 others(47): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150310492 | C | CATCCATC others(21): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02145.hp2 HG02257.hp2 others(9): Show |
a0002a0006 | a0002c0002a0006c0005 | a0002c0002t0001a0002c0002t0002a0006c0005t0001others(1): Show | a0002c0002t0001g0113a0002c0002t0001g0114a0002c0002t0001g0115others(9): Show | 12 | 294 | 0.0408 | 28 | c.-52 others(47): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
ACTRT3_chr3_169761921_169774561 | 169771305 | A | AAAAAATT others(21): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 HG03540.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006a0001c0001t0002g0030 | 3 | 418 | 0.0072 | 28 | c.-17 others(39): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1745 | chr3 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0004a0001c0002t0015others(2): Show | a0001c0001t0001g0148a0001c0001t0001g0211a0001c0002t0004g0135others(3): Show | 6 | 216 | 0.0278 | 28 | c.544 others(45): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554268 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0024 | 1 | 216 | 0.0046 | 28 | c.544 others(45): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554268 | A | AAAGAAAG others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 216 | 0.0046 | 28 | c.544 others(45): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54201622 | T | TTCTTTTT others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0271a0001c0002t0005g0068 | 2 | 272 | 0.0074 | 28 | c.404 others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201636 | C | CTCTTTCT others(21): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 272 | 0.0037 | 28 | c.404 others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201636 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0030 | 1 | 272 | 0.0037 | 28 | c.404 others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201636 | C | CTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0084 | 1 | 272 | 0.0037 | 28 | c.404 others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54201642 | C | CTTTTTCT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 272 | 0.0037 | 28 | c.404 others(47): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADA2_chr22_17173790_17224435 | 17184983 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01109.hp1 HG01433.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0008a0001c0003t0003a0001c0005t0002others(9): Show | a0001c0001t0008g0376a0001c0003t0003g0308a0001c0005t0002g0024others(12): Show | 15 | 408 | 0.0368 | 28 | c.108 others(47): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
ADAL_chr15_43325672_43359569 | 43334633 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00673.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0004g0076a0001c0001t0004g0077a0001c0002t0001g0007others(9): Show | 16 | 386 | 0.0415 | 28 | c.-16 others(45): Show |
ADAL | ENSG00000168803.16 | transcript | ENST00000562188.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58620660 | A | ATTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0086 | 1 | 342 | 0.0029 | 28 | c.151 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 11/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58672786 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0286 | 1 | 342 | 0.0029 | 28 | c.484 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 4/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688766 | T | TTATATAT others(21): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0250 | 1 | 342 | 0.0029 | 28 | c.207 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0095 | 1 | 342 | 0.0029 | 28 | c.207 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0201a0001c0001t0005g0202 | 2 | 342 | 0.0059 | 28 | c.207 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0072 | a0001c0001t0003g0239a0001c0001t0072g0248 | 2 | 342 | 0.0059 | 28 | c.207 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58688786 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 342 | 0.0029 | 28 | c.207 others(45): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 2/15 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 |
a0002a0016 | a0002c0001a0016c0043 | a0002c0001t0008a0016c0043t0001 | a0002c0001t0008g0169a0016c0043t0001g0098 | 2 | 252 | 0.0079 | 28 | c.114 others(47): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02886.hp1 |
a0001a0002 | a0001c0004a0001c0032a0002c0006 | a0001c0004t0017a0001c0032t0008a0002c0006t0005 | a0001c0004t0017g0131a0001c0032t0008g0184a0002c0006t0005g0241 | 3 | 252 | 0.0119 | 28 | c.114 others(47): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126086680 | A | AAAAAATA others(21): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0001 | a0002c0001t0031 | a0002c0001t0031g0005 | 1 | 252 | 0.0040 | 28 | c.114 others(47): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 11/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126120934 | A | ATATATTA others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02965.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0006a0001c0002t0018others(2): Show | a0001c0002t0005g0250a0001c0002t0006g0016a0001c0002t0018g0135others(2): Show | 5 | 252 | 0.0198 | 28 | c.417 others(45): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126120948 | T | TAATATAA others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0197 | 1 | 252 | 0.0040 | 28 | c.417 others(45): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 234 | 0.0043 | 28 | c.957 others(43): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTGCCTG others(21): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0032 | a0001c0001t0004g0083a0001c0001t0032g0082 | 2 | 234 | 0.0086 | 28 | c.844 others(43): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87982068 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0075 | 1 | 230 | 0.0044 | 28 | c.323 others(45): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0150 | 2 | 230 | 0.0087 | 28 | c.324 others(47): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0024 | a0001c0001t0001g0155a0001c0018t0024g0112 | 2 | 230 | 0.0087 | 28 | c.324 others(47): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 230 | 0.0044 | 28 | c.324 others(47): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477887 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 | 1 | 358 | 0.0028 | 28 | c.433 others(45): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM23_chr2_206438532_206626127 | 206477895 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 358 | 0.0028 | 28 | c.433 others(45): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306351 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18971.hp1 NA18989.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005 | a0001c0002t0001g0309a0001c0002t0004g0307a0001c0002t0005g0308 | 3 | 348 | 0.0086 | 28 | c.151 others(45): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306356 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0227 | 1 | 348 | 0.0029 | 28 | c.151 others(45): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306357 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 348 | 0.0029 | 28 | c.151 others(45): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24306361 | T | TAAATATA others(21): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03209.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0155a0001c0001t0003g0184a0001c0001t0005g0034 | 3 | 348 | 0.0086 | 28 | c.151 others(45): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24347081 | A | ATGCTTTC others(21): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0219 | 1 | 348 | 0.0029 | 28 | c.199 others(47): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM28_chr8_24289069_24364014 | 24353916 | A | AAAAACTT others(21): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 348 | 0.0029 | 28 | c.230 others(44): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM32_chr8_39102734_39289917 | 39154033 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0156 | 1 | 257 | 0.0039 | 28 | c.525 others(45): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM8_chr10_133257423_133281868 | 133263617 | C | CGTCAGCC others(21): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(321): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(142): Show | 324 | 386 | 0.8394 | 28 | c.239 others(43): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 22/22 | chr10 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133263617 | C | CGTCAGCC others(21): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01261.hp2 HG01884.hp1 others(9): Show |
a0003a0006 | a0003c0004a0006c0008 | a0003c0004t0003a0006c0008t0003 | a0003c0004t0003g0040a0003c0004t0003g0041a0003c0004t0003g0143others(4): Show | 12 | 386 | 0.0311 | 28 | c.239 others(43): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 22/22 | chr10 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133263626 | C | CGTGGGGA others(21): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 386 | 0.0026 | 28 | c.239 others(43): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 22/22 | chr10 | TogoVar |