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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOT9_chrX_23696055_23748276 | 23710644 | AGGATTTT | A | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 309 | 0.0032 | -7 | c.662 others(24): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 9/15 | chrX | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75945606 | ATTTAACC | A | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG02486.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0053 | a0001c0004t0008g0116a0001c0004t0008g0127a0001c0004t0008g0129others(4): Show | 7 | 344 | 0.0204 | -7 | c.*11 others(18): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 14/14 | 1135 | chr17 | TogoVar | |||||
ACOX3_chr4_8361282_8445723 | 8367806 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0275a0001c0001t0001g0276others(4): Show | 8 | 380 | 0.0211 | -7 | c.198 others(24): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 17/17 | chr4 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111011900 | AAAAAAGG | A | intron_variant | MODIFIER | HG00438.hp2 HG02027.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0085others(3): Show | 6 | 150 | 0.0400 | -7 | c.128 others(28): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSF3_chr16_89088852_89161233 | 89147233 | GTGAGGGA | G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01069.hp2 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0018others(5): Show | a0001c0001t0023a0001c0005t0011a0001c0018t0011others(12): Show | a0001c0001t0023g0274a0001c0005t0011g0311a0001c0005t0011g0312others(52): Show | 55 | 368 | 0.1495 | -7 | c.161 others(26): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184762236 | ACCCTGTC | A | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp1 HG01517.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0016a0001c0001t0002g0017others(2): Show | 6 | 392 | 0.0153 | -7 | c.163 others(24): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 17/20 | chr4 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184785600 | CGGGGGCG | C | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01243.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0108a0001c0001t0001g0136others(30): Show | 34 | 392 | 0.0867 | -7 | c.311 others(24): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222866753 | GCCCCCCC | G | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01071.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0097others(28): Show | 31 | 252 | 0.1230 | -7 | c.-20 others(26): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSL3_chr2_222856036_222949639 | 222937873 | TTGCTGCC | T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02451.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0102a0001c0001t0003g0103a0001c0001t0003g0107others(7): Show | 10 | 252 | 0.0397 | -7 | c.200 others(26): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACSL5_chr10_112369116_112433376 | 112383114 | TAAAAACA | T | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02886.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0259others(7): Show | 10 | 364 | 0.0275 | -7 | c.-30 others(24): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ACSM1_chr16_20618235_20702680 | 20657378 | AGCTCACT | A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02717.hp1 others(5): Show |
a0001a0006 | a0001c0005a0006c0009 | a0001c0005t0001a0006c0009t0001 | a0001c0005t0001g0078a0001c0005t0001g0226a0001c0005t0001g0248others(5): Show | 8 | 318 | 0.0252 | -7 | c.992 others(24): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20685829 | AAACAAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02280.hp2 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0002a0001c0005t0001a0001c0008t0003others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0166a0001c0001t0002g0295others(12): Show | 16 | 318 | 0.0503 | -7 | c.193 others(22): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 2/13 | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02630.hp1 others(9): Show |
a0001a0003a0007others(2): Show | a0001c0001a0003c0003a0003c0010others(3): Show | a0001c0001t0006a0003c0003t0007a0003c0010t0006others(4): Show | a0001c0001t0006g0090a0003c0003t0007g0271a0003c0010t0006g0163others(8): Show | 12 | 436 | 0.0275 | -7 | c.162 others(24): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACSM2B_chr16_20531226_20581367 | 20566952 | ATATATAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp1 others(14): Show |
a0001a0006a0008others(1): Show | a0001c0002a0001c0006a0006c0010others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(5): Show | a0001c0002t0002g0111a0001c0002t0003g0112a0001c0002t0007g0104others(13): Show | 17 | 388 | 0.0438 | -7 | c.-8- others(22): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20567346 | AATATATT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(251): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(220): Show | 254 | 388 | 0.6546 | -7 | c.-8- others(22): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
ACSM6_chr10_95189238_95233929 | 95232031 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01069.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0036a0003c0003t0001g0151a0003c0003t0001g0170others(5): Show | 9 | 314 | 0.0287 | -7 | c.*32 others(18): Show |
ACSM6 | ENSG00000173124.15 | transcript | ENST00000394005.4 | protein_coding | 3103 | chr10 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73904737 | CATTGTGT | C | intron_variant | MODIFIER | HG00735.hp1 HG02615.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0004a0001c0002t0006g0051 | 3 | 416 | 0.0072 | -7 | c.255 others(24): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG00738.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0007 | a0001c0001t0001a0001c0004t0001a0002c0007t0001 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0014others(20): Show | 34 | 360 | 0.0944 | -7 | c.369 others(24): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40751591 | TTAACTCC | T | upstream_gene_variant | MODIFIER | HG00609.hp1 NA18969.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0013a0001c0003t0010g0070a0001c0003t0010g0072 | 4 | 426 | 0.0094 | -7 | c.-17 others(18): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 1115 | chr19 | TogoVar | ||||||
ACTMAP_chr19_40735861_40755477 | 40755257 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG02015.hp2 HG02027.hp1 others(16): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0012 | a0001c0001t0036a0002c0002t0002a0002c0002t0006others(3): Show | a0001c0001t0036g0116a0002c0002t0002g0002a0002c0002t0002g0133others(6): Show | 19 | 426 | 0.0446 | -7 | c.-54 others(18): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 4781 | chr19 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68899210 | CCACACCA | C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0201a0001c0001t0002g0001a0001c0001t0002g0025others(1): Show | 5 | 284 | 0.0176 | -7 | c.762 others(24): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236765120 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02717.hp1 others(12): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0005 | a0001c0004t0002g0064a0001c0004t0005g0056a0001c0004t0005g0057others(12): Show | 15 | 344 | 0.0436 | -7 | c.*25 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38668685 | AAAAAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001a0005 | a0001c0002a0001c0007a0005c0018 | a0001c0002t0040a0001c0007t0001a0005c0018t0001 | a0001c0002t0040g0203a0001c0007t0001g0200a0001c0007t0001g0202others(2): Show | 5 | 314 | 0.0159 | -7 | c.162 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTR3_chr2_113885089_113967596 | 113897515 | GTTATTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(115): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0020a0001c0001t0001g0021others(109): Show | 118 | 390 | 0.3026 | -7 | c.44+ others(22): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR5_chr20_38743460_38777520 | 38776912 | TGTGTGTG | T | downstream_gene_variant | MODIFIER | HG01981.hp2 HG02109.hp2 HG06807.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 6 | 366 | 0.0164 | -7 | c.*50 others(18): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 4393 | chr20 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0049a0001c0001t0001g0174others(31): Show | 40 | 324 | 0.1235 | -7 | c.139 others(24): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1_chr2_157731446_157881330 | 157789194 | TCCAGGTG | T | intron_variant | MODIFIER | HG02970.hp2 NA19043.hp1 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0015a0001c0002t0003g0130a0001c0002t0003g0156 | 3 | 174 | 0.0172 | -7 | c.68- others(22): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157851855 | AAACACAC | A | intron_variant | MODIFIER | HG00438.hp1 HG04228.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0005 | a0001c0001t0002g0129a0001c0003t0005g0007 | 2 | 174 | 0.0115 | -7 | c.-18 others(28): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157851896 | CACACACA | C | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG01978.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0056others(13): Show | 16 | 174 | 0.0920 | -7 | c.-18 others(28): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67653904 | AAAAAAAC | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(83): Show | 272 | 396 | 0.6869 | -7 | c.-34 others(18): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3175 | chr11 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54102638 | CAAAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01256.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0116a0001c0001t0001g0210a0001c0001t0004g0121others(4): Show | 7 | 272 | 0.0257 | -7 | c.278 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54119051 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0006a0003c0004t0007 | a0001c0001t0001g0105a0001c0001t0001g0130a0001c0002t0006g0002others(4): Show | 7 | 272 | 0.0257 | -7 | c.278 others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54266590 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01891.hp1 HG02056.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0129a0001c0001t0001g0206a0001c0002t0002g0011others(6): Show | 9 | 272 | 0.0331 | -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 | 17201967 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01070.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0075a0001c0001t0001g0084a0001c0001t0001g0153others(31): Show | 34 | 408 | 0.0833 | -7 | c.753 others(24): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 4/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17208821 | TAAAAAAA | T | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG02004.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0269a0001c0001t0001g0318a0001c0001t0001g0322others(13): Show | 16 | 408 | 0.0392 | -7 | c.322 others(22): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 2/9 | chr22 | TogoVar | ||||||
ADA2_chr22_17173790_17224435 | 17215366 | CGAGGCAG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(11): Show | a0001c0001t0001g0094a0001c0001t0001g0212a0001c0001t0001g0213others(19): Show | 22 | 408 | 0.0539 | -7 | c.-47 others(24): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 1/9 | chr22 | TogoVar | ||||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01074.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0002c0003t0001a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0012others(23): Show | 30 | 376 | 0.0798 | -7 | c.-91 others(16): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58590844 | CATGCAAA | C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0025others(4): Show | a0001c0001t0015g0334a0001c0001t0015g0338a0001c0001t0015g0339others(9): Show | 12 | 342 | 0.0351 | -7 | c.*66 others(18): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 6696 | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG01928.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030a0001c0001t0056others(6): Show | a0001c0001t0003g0188a0001c0001t0003g0189a0001c0001t0003g0237others(21): Show | 24 | 342 | 0.0702 | -7 | c.*43 others(18): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4391 | chr15 | TogoVar | |||||
ADAM10_chr15_58583809_58754707 | 58672786 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(171): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0100a0001c0001t0001g0106a0001c0001t0001g0109others(171): Show | 174 | 342 | 0.5088 | -7 | c.484 others(24): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 4/15 | chr15 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126046801 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0008a0001c0031a0001c0042others(3): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0040others(6): Show | a0001c0008t0001g0078a0001c0008t0002g0192a0001c0008t0002g0219others(8): Show | 11 | 252 | 0.0437 | -7 | c.191 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 16/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126099506 | TATAAATA | T | intron_variant | MODIFIER | HG00423.hp2 HG02165.hp1 HG02258.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0013others(8): Show | a0001c0002t0001a0001c0003t0010a0001c0013t0001others(9): Show | a0001c0002t0001g0044a0001c0002t0001g0097a0001c0003t0010g0137others(14): Show | 17 | 252 | 0.0675 | -7 | c.912 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 9/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126113688 | ATATATAT | A | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01099.hp1 others(9): Show |
a0001a0002a0009 | a0001c0002a0001c0003a0001c0004others(3): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0008others(7): Show | a0001c0002t0001g0185a0001c0002t0005g0210a0001c0002t0005g0251others(9): Show | 12 | 252 | 0.0476 | -7 | c.604 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126121015 | ATATATAT | A | intron_variant | MODIFIER | HG00423.hp2 HG02132.hp1 HG02165.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0013others(3): Show | a0001c0002t0001a0001c0003t0003a0001c0013t0001others(5): Show | a0001c0002t0001g0044a0001c0002t0001g0097a0001c0003t0003g0025others(8): Show | 11 | 252 | 0.0437 | -7 | c.417 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126152008 | GTTTTTTT | G | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG02895.hp2 others(4): Show |
a0001a0006 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0002a0001c0003t0010a0001c0004t0023others(2): Show | a0001c0002t0002g0186a0001c0003t0010g0137a0001c0004t0023g0014others(4): Show | 7 | 252 | 0.0278 | -7 | c.339 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 4/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126159307 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(68): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(42): Show | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0149others(68): Show | 71 | 252 | 0.2818 | -7 | c.261 others(24): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126178408 | CTTTTTTT | C | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 HG02976.hp1 others(3): Show |
a0001a0002a0010 | a0001c0004a0001c0034a0002c0001others(2): Show | a0001c0004t0002a0001c0034t0001a0002c0001t0008others(3): Show | a0001c0004t0002g0204a0001c0034t0001g0202a0002c0001t0008g0169others(3): Show | 6 | 252 | 0.0238 | -7 | c.261 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM17_chr2_9483486_9560830 | 9499110 | CTTCTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(116): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0012a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(44): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(116): Show | 119 | 234 | 0.5086 | -7 | c.164 others(26): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 13/18 | chr2 | TogoVar | ||||||
ADAM18_chr8_39579568_39735065 | 39638291 | GATTTAGT | G | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02572.hp2 others(15): Show |
a0001a0004a0005 | a0001c0002a0004c0005a0005c0016 | a0001c0002t0001a0004c0005t0001a0005c0016t0001 | a0001c0002t0001g0002a0001c0002t0001g0063a0001c0002t0001g0065others(14): Show | 18 | 347 | 0.0519 | -7 | c.828 others(22): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM19_chr5_157472304_157580775 | 157552677 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02818.hp2 others(5): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0010a0005c0005t0008 | a0004c0004t0010g0273a0005c0005t0008g0001a0005c0005t0008g0274others(3): Show | 8 | 310 | 0.0258 | -7 | c.251 others(26): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 3/22 | chr5 | TogoVar |