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 | 152789046 | A | ACAAACAG | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003a0001c0001t0001g0239a0001c0001t0001g0240others(11): Show | 15 | 310 | 0.0484 | 7 | c.100 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0204a0001c0001t0001g0206a0001c0001t0001g0218others(19): Show | 22 | 310 | 0.0710 | 7 | c.337 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3_chr2_113885089_113967596 | 113914199 | A | ATAGGAAT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(172): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0021others(163): Show | 175 | 390 | 0.4487 | 7 | c.100 others(22): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR5_chr20_38743460_38777520 | 38770922 | A | AGGGAGGT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01255.hp2 others(22): Show |
a0002a0004 | a0002c0003a0004c0006 | a0002c0003t0003a0002c0003t0004a0002c0003t0005others(2): Show | a0002c0003t0003g0005a0002c0003t0003g0051a0002c0003t0003g0130others(9): Show | 25 | 366 | 0.0683 | 7 | c.156 others(24): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ACTR8_chr3_53862066_53887152 | 53863794 | T | TGAGGTTA | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02735.hp1 NA18747.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0003g0004 | 12 | 432 | 0.0278 | 7 | c.*49 others(18): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3271 | chr3 | TogoVar | ||||||
ACTRT1_chrX_128045962_128057403 | 128048283 | G | GGAGCAGA | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 285 | 0.0035 | 7 | c.*27 others(18): Show |
ACTRT1 | ENSG00000123165.9 | transcript | ENST00000371124.5 | protein_coding | 2678 | chrX | TogoVar | ||||||
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 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(9): Show | 120 | 366 | 0.3279 | 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 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(8): Show | 107 | 366 | 0.2924 | 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 |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0001c0002t0006a0001c0002t0012others(2): Show | a0001c0002t0001g0005a0001c0002t0001g0008a0001c0002t0001g0038others(21): Show | 24 | 338 | 0.0710 | 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 | a0001c0001t0008a0001c0008t0008 | a0001c0001t0008g0018a0001c0001t0008g0019a0001c0001t0008g0124others(2): Show | 5 | 338 | 0.0148 | 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 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0012others(17): Show | 53 | 322 | 0.1646 | 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 | a0001c0001t0001g0017a0001c0001t0001g0045a0001c0001t0001g0046others(1): Show | 6 | 322 | 0.0186 | 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 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0134others(35): Show | 38 | 272 | 0.1397 | 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 | a0001c0001t0001g0159a0001c0001t0001g0241a0001c0001t0004g0158 | 3 | 272 | 0.0110 | 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 | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0001g0266others(3): Show | 6 | 272 | 0.0221 | 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 | a0001c0001t0001g0178a0001c0002t0002g0036a0001c0002t0005g0039others(1): Show | 4 | 272 | 0.0147 | 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 | a0001c0001t0001g0193a0001c0001t0001g0243a0001c0001t0001g0263others(12): Show | 15 | 272 | 0.0552 | 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 | a0001c0001t0001g0117a0001c0001t0001g0241a0001c0001t0001g0245others(5): Show | 8 | 272 | 0.0294 | 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(121): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0013others(39): Show | a0001c0001t0005g0062a0001c0001t0005g0101a0001c0001t0005g0102others(121): Show | 124 | 408 | 0.3039 | 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 |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0084a0001c0001t0001g0153a0001c0001t0001g0162others(20): Show | 23 | 408 | 0.0564 | 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(10): Show | a0001c0002a0001c0004a0001c0007others(23): Show | a0001c0002t0001a0001c0004t0003a0001c0004t0004others(30): Show | a0001c0002t0001g0001a0001c0002t0001g0054a0001c0004t0003g0006others(60): Show | 272 | 470 | 0.5787 | 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 | a0001c0001t0004g0028a0001c0001t0004g0058a0001c0001t0004g0076others(9): Show | 13 | 386 | 0.0337 | 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 | a0001c0001t0001a0001c0001t0002a0001c0001t0024others(6): Show | a0001c0001t0001g0100a0001c0001t0001g0121a0001c0001t0001g0124others(17): Show | 20 | 342 | 0.0585 | 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 | a0001c0001t0001g0155a0001c0001t0001g0157a0001c0001t0001g0167others(5): Show | 8 | 342 | 0.0234 | 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 | a0001c0001t0001g0100a0001c0001t0001g0106a0001c0001t0001g0109others(38): Show | 41 | 342 | 0.1199 | 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 | a0001c0004t0017a0001c0013t0001a0002c0017t0020others(2): Show | a0001c0004t0017g0131a0001c0013t0001g0027a0002c0017t0020g0249others(2): Show | 5 | 252 | 0.0198 | 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(178): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(38): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(97): Show | a0001c0002t0001g0042a0001c0002t0001g0044a0001c0002t0001g0066others(178): Show | 181 | 252 | 0.7183 | 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 | a0001c0002t0008a0001c0003t0003a0001c0003t0013others(4): Show | a0001c0002t0008g0201a0001c0002t0008g0211a0001c0002t0008g0214others(7): Show | 10 | 252 | 0.0397 | 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(104): Show |
a0001a0002a0005others(4): Show | a0001c0002a0001c0003a0001c0004others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(58): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0101others(104): Show | 107 | 252 | 0.4246 | 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 | a0001c0002t0048a0001c0003t0007a0001c0004t0004others(6): Show | a0001c0002t0048g0035a0001c0003t0007g0087a0001c0004t0004g0129others(6): Show | 9 | 252 | 0.0357 | 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 | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(43): Show | a0001c0002t0001g0044a0001c0002t0001g0097a0001c0002t0001g0143others(67): Show | 70 | 252 | 0.2778 | 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 | a0001c0001t0001g0001a0001c0001t0001g0023a0001c0001t0001g0046others(2): Show | 9 | 324 | 0.0278 | 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 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(10): Show | a0001c0001t0001g0035a0001c0001t0004g0042a0001c0001t0004g0084others(13): Show | 16 | 234 | 0.0684 | 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(123): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(122): Show | 126 | 234 | 0.5385 | 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 | a0001c0002t0001g0255a0001c0002t0001g0257a0001c0002t0001g0258others(1): Show | 4 | 347 | 0.0115 | 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 |
a0001a0014 | a0001c0001a0014c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0063a0001c0001t0001g0089a0001c0001t0001g0097others(6): Show | 9 | 230 | 0.0391 | 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 | a0001c0001t0015g0184a0001c0018t0024g0112a0002c0002t0008g0217 | 3 | 230 | 0.0130 | 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 | a0001c0002t0001g0027a0001c0002t0001g0281a0001c0002t0001g0283others(54): Show | 59 | 348 | 0.1695 | 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(134): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0148a0001c0001t0001g0149others(132): Show | 137 | 257 | 0.5331 | 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(355): Show |
a0000a0001a0002others(15): Show | a0000c0003a0000c0010a0000c0013others(38): Show | a0000c0003t0007a0000c0003t0008a0000c0003t0032others(77): Show | a0000c0003t0007g0058a0000c0003t0007g0095a0000c0003t0007g0096others(284): Show | 358 | 462 | 0.7749 | 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 |
a0000a0001a0002others(12): Show | a0000c0003a0000c0009a0000c0010others(26): Show | a0000c0003t0007a0000c0009t0007a0000c0010t0008others(46): Show | a0000c0003t0007g0058a0000c0003t0007g0095a0000c0003t0007g0096others(167): Show | 218 | 462 | 0.4719 | 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 | a0001c0001t0001g0068a0001c0001t0001g0103a0002c0002t0002g0194others(3): Show | 6 | 332 | 0.0181 | 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(10): Show | a0001c0001t0001g0045a0001c0002t0001g0003a0001c0002t0001g0051others(51): Show | 55 | 384 | 0.1432 | 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 | a0001c0001t0002g0183a0001c0002t0001g0132a0001c0002t0002g0131others(3): Show | 6 | 384 | 0.0156 | 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 |
a0002a0026a0027 | a0002c0002a0026c0033a0027c0029 | a0002c0002t0001a0026c0033t0001a0027c0029t0001 | a0002c0002t0001g0045a0002c0002t0001g0197a0026c0033t0001g0195others(1): Show | 4 | 224 | 0.0179 | 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 | a0001c0001t0001g0148a0001c0001t0001g0171a0001c0005t0001g0260others(17): Show | 22 | 364 | 0.0604 | 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 | 70671098 | T | TCTCTTTC | upstream_gene_variant | MODIFIER | NA18939.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0016 | a0001c0004t0008a0002c0001t0001a0003c0016t0012 | a0001c0004t0008g0050a0002c0001t0001g0272a0003c0016t0012g0013 | 3 | 354 | 0.0085 | 7 | c.-17 others(18): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1407 | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70684840 | G | GCCTGGGT | intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02897.hp2 others(7): Show |
a0001a0010a0014others(2): Show | a0001c0004a0001c0019a0010c0043others(5): Show | a0001c0004t0003a0001c0019t0003a0010c0043t0031others(6): Show | a0001c0004t0003g0333a0001c0019t0003g0218a0010c0043t0031g0063others(7): Show | 10 | 354 | 0.0283 | 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 | a0001c0023t0001g0228a0001c0023t0006g0226a0001c0023t0015g0223others(6): Show | 9 | 332 | 0.0271 | 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 | a0001c0001t0008g0090a0002c0080t0001g0208a0004c0009t0015g0140others(1): Show | 4 | 332 | 0.0121 | 7 | c.145 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |