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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACSS3_chr12_81073079_81266210 | 81181253 | ACTAAGGC others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(82): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0055others(82): Show | 85 | 290 | 0.2931 | -9 | c.125 others(28): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACTG2_chr2_73888008_73924865 | 73903939 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0008g0038a0001c0001t0008g0066a0001c0002t0002g0041others(15): Show | 19 | 416 | 0.0457 | -9 | c.255 others(26): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTL6B_chr7_100638097_100661448 | 100652999 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01192.hp2 HG02055.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0078a0001c0001t0001g0082others(10): Show | 21 | 360 | 0.0583 | -9 | c.369 others(26): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL6B_chr7_100638097_100661448 | 100654432 | CATAATAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02895.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0047others(2): Show | 8 | 360 | 0.0222 | -9 | c.369 others(24): Show |
ACTL6B | ENSG00000077080.10 | transcript | ENST00000160382.10 | protein_coding | 4/13 | chr7 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17776969 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG01243.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0026a0001c0001t0001g0045a0001c0001t0001g0065others(14): Show | 17 | 366 | 0.0465 | -9 | c.-25 others(28): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17805371 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01070.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0051others(38): Show | 42 | 366 | 0.1148 | -9 | c.-24 others(28): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17805377 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG01255.hp1 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0124a0001c0001t0001g0156a0001c0001t0001g0234others(57): Show | 60 | 366 | 0.1639 | -9 | c.-24 others(28): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTL8_chr1_17750333_17832063 | 17824110 | CAGCAGCA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02559.hp1 HG03453.hp1 others(6): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0117a0002c0002t0001g0119a0002c0002t0001g0121others(6): Show | 9 | 366 | 0.0246 | -9 | c.348 others(24): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN1_chr14_68869128_68984302 | 68927153 | TAGATAGG others(2): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0138a0001c0001t0001g0169a0001c0001t0001g0206others(7): Show | 10 | 284 | 0.0352 | -9 | c.106 others(26): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68950294 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(99): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0001g0148others(98): Show | 102 | 284 | 0.3592 | -9 | c.106 others(28): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236721015 | GTTTTTTG others(2): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG03654.hp1 NA19010.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0021a0002c0005others(1): Show | a0001c0001t0004a0001c0021t0001a0002c0005t0004others(1): Show | a0001c0001t0004g0293a0001c0021t0001g0254a0002c0005t0004g0257others(3): Show | 6 | 344 | 0.0174 | -9 | c.448 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236765120 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0005a0001c0001t0012a0001c0003t0020others(2): Show | a0001c0001t0005g0055a0001c0001t0005g0080a0001c0001t0012g0019others(6): Show | 9 | 344 | 0.0262 | -9 | c.*25 others(20): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 490 | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673651 | ATATTTAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(81): Show |
a0001a0004 | a0001c0002a0004c0019 | a0001c0002t0001a0001c0002t0005a0001c0002t0007others(7): Show | a0001c0002t0001g0005a0001c0002t0001g0006a0001c0002t0001g0008others(81): Show | 84 | 314 | 0.2675 | -9 | c.162 others(28): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728410 | GCTCCTCC others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02015.hp1 HG02040.hp2 others(36): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(10): Show | a0001c0001t0004g0221a0001c0001t0004g0255a0001c0001t0004g0256others(36): Show | 39 | 314 | 0.1242 | -9 | c.241 others(26): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ACTN4_chr19_38642649_38736589 | 38736008 | AGGTCTCG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(78): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0086a0001c0001t0001g0170a0001c0001t0001g0205others(77): Show | 81 | 314 | 0.2580 | -9 | c.*65 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01257.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0200a0001c0001t0002g0023a0001c0001t0002g0024others(24): Show | 27 | 310 | 0.0871 | -9 | c.337 others(26): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3B_chr7_152754752_152860378 | 152813865 | CTTTTCTC others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01361.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0296a0001c0001t0002g0002a0001c0001t0002g0007others(10): Show | 14 | 310 | 0.0452 | -9 | c.337 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ACTR3C_chr7_150242212_150328545 | 150296021 | GACAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03225.hp2 HG03453.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001a0006c0005t0002 | a0001c0001t0001g0120a0006c0005t0001g0138a0006c0005t0002g0110others(1): Show | 4 | 294 | 0.0136 | -9 | c.-51 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113910254 | CAGAGTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02258.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0024others(2): Show | a0001c0001t0007g0212a0001c0001t0007g0213a0001c0001t0007g0214others(16): Show | 19 | 390 | 0.0487 | -9 | c.45- others(24): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR8_chr3_53862066_53887152 | 53866654 | TATATTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(192): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0011others(44): Show | 195 | 432 | 0.4514 | -9 | c.*20 others(20): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 411 | chr3 | TogoVar | ||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0002g0133a0001c0001t0002g0134a0001c0001t0004g0118others(7): Show | 10 | 324 | 0.0309 | -9 | c.139 others(26): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1_chr2_157731446_157881330 | 157734303 | CCTGAGGC others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00735.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(47): Show | 50 | 174 | 0.2874 | -9 | c.*32 others(20): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2142 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157795419 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02165.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081a0001c0001t0002g0118 | 2 | 174 | 0.0115 | -9 | c.67+ others(24): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157851894 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01074.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0054a0001c0001t0001g0088a0001c0001t0001g0106others(48): Show | 51 | 174 | 0.2931 | -9 | c.-18 others(30): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157852498 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0010others(2): Show | a0001c0001t0010g0003a0001c0002t0005g0001a0001c0002t0005g0006others(4): Show | 7 | 174 | 0.0402 | -9 | c.-18 others(30): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38460233 | ACCCCCTT others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG01070.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0032a0001c0001t0033others(23): Show | a0001c0001t0006g0002a0001c0001t0006g0033a0001c0001t0032g0002others(28): Show | 40 | 410 | 0.0976 | -9 | c.52+ others(24): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67640137 | AGCAGGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02647.hp1 HG03130.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0018a0002c0005t0002g0040 | 4 | 396 | 0.0101 | -9 | c.*25 others(20): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 2417 | chr11 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53973905 | ATATTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01257.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0134a0001c0002t0002g0016a0001c0002t0002g0018others(2): Show | 5 | 272 | 0.0184 | -9 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 54142017 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(42): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0186a0001c0001t0001g0188others(42): Show | 45 | 272 | 0.1654 | -9 | 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 | 54202706 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02622.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0002 | a0001c0001t0001g0112a0001c0001t0001g0147a0001c0001t0001g0174others(3): Show | 6 | 272 | 0.0221 | -9 | c.404 others(28): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADAD1_chr4_122374011_122434784 | 122378285 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02071.hp2 HG03540.hp2 NA19058.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0034a0001c0001t0001g0141a0001c0001t0001g0162others(3): Show | 6 | 376 | 0.0160 | -9 | c.-91 others(18): Show |
ADAD1 | ENSG00000164113.11 | transcript | ENST00000296513.7 | protein_coding | 725 | chr4 | TogoVar | ||||||
ADAM10_chr15_58583809_58754707 | 58593149 | ATTTTTTT others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01167.hp1 others(19): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0007a0001c0001t0011a0001c0001t0036others(5): Show | a0001c0001t0007g0293a0001c0001t0007g0303a0001c0001t0007g0304others(19): Show | 22 | 342 | 0.0643 | -9 | c.*43 others(20): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 16/16 | 4389 | chr15 | TogoVar | |||||
ADAM12_chr10_126007391_126393477 | 126113688 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00673.hp2 others(12): Show |
a0001a0002a0012 | a0001c0002a0001c0008a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0002t0001g0220a0001c0002t0002g0022a0001c0002t0006g0208others(12): Show | 15 | 252 | 0.0595 | -9 | c.604 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 6/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126121131 | CTATATAC others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01934.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0010others(10): Show | a0001c0003t0003a0001c0004t0001a0001c0004t0002others(12): Show | a0001c0003t0003g0030a0001c0003t0003g0091a0001c0004t0001g0036others(15): Show | 18 | 252 | 0.0714 | -9 | c.417 others(26): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 5/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126174008 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0002 | a0001c0004a0001c0021a0002c0015 | a0001c0004t0023a0001c0021t0021a0002c0015t0006 | a0001c0004t0023g0014a0001c0004t0023g0173a0001c0021t0021g0076others(2): Show | 5 | 252 | 0.0198 | -9 | c.261 others(28): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126190989 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0003a0001c0004others(18): Show | a0001c0002t0001a0001c0002t0019a0001c0002t0038others(36): Show | a0001c0002t0001g0044a0001c0002t0001g0065a0001c0002t0001g0066others(49): Show | 52 | 252 | 0.2064 | -9 | c.261 others(28): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157576239 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01069.hp1 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0051a0001c0001t0001g0065a0001c0001t0003g0073others(20): Show | 23 | 310 | 0.0742 | -9 | c.-55 others(18): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 465 | chr5 | TogoVar | ||||||
ADAM20_chr14_70517358_70540004 | 70536465 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01243.hp2 HG01433.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0019others(5): Show | 21 | 400 | 0.0525 | -9 | c.-18 others(20): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1462 | chr14 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39160539 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(59): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0127a0001c0002t0001g0145a0001c0002t0001g0161others(58): Show | 62 | 257 | 0.2413 | -9 | c.526 others(24): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAMDEC1_chr8_24379285_24411013 | 24406285 | GTTACCTA others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02965.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0115a0001c0001t0001g0157 | 3 | 404 | 0.0074 | -9 | c.*98 others(18): Show |
ADAMDEC1 | ENSG00000134028.14 | transcript | ENST00000256412.8 | protein_coding | 273 | chr8 | TogoVar | ||||||
ADAMTS12_chr5_33518535_33896990 | 33860074 | TGAAAATT others(2): Show |
T | intron_variant | MODIFIER | HG02280.hp1 NA20129.hp2 |
a0001a0004 | a0001c0050a0004c0049 | a0001c0050t0005a0004c0049t0014 | a0001c0050t0005g0202a0004c0049t0014g0190 | 2 | 224 | 0.0089 | -9 | c.489 others(28): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133436363 | GCAGTGTG others(2): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp1 others(74): Show |
a0002a0013 | a0002c0002a0002c0006a0002c0037others(5): Show | a0002c0002t0001a0002c0006t0001a0002c0037t0001others(5): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0007others(64): Show | 77 | 364 | 0.2115 | -9 | c.130 others(26): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ADAMTS14_chr10_70667506_70767441 | 70672682 | AGGCGGCA others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(53): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0004a0001c0005others(24): Show | a0001c0002t0007a0001c0004t0008a0001c0005t0026others(32): Show | a0001c0002t0007g0009a0001c0002t0007g0010a0001c0002t0007g0011others(53): Show | 56 | 354 | 0.1582 | -9 | c.-11 others(18): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1/22 | 103 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
ADAMTS16_chr5_5135330_5325304 | 5212195 | TTTTGTTT others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00673.hp2 others(32): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0023a0002c0005others(13): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(24): Show | a0001c0001t0004g0035a0001c0001t0005g0031a0001c0001t0007g0032others(32): Show | 35 | 332 | 0.1054 | -9 | c.160 others(28): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADAMTS17_chr15_99966437_100346975 | 99977387 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG04199.hp1 |
a0002a0006 | a0002c0001a0006c0049 | a0002c0001t0007a0006c0049t0015 | a0002c0001t0007g0094a0006c0049t0015g0210 | 2 | 228 | 0.0088 | -9 | c.295 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977390 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 NA19009.hp1 others(1): Show |
a0003a0004a0007others(1): Show | a0003c0006a0004c0008a0007c0061others(1): Show | a0003c0006t0003a0004c0008t0001a0007c0061t0003others(1): Show | a0003c0006t0003g0027a0004c0008t0001g0100a0007c0061t0003g0009others(1): Show | 4 | 228 | 0.0175 | -9 | c.295 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 99977391 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03834.hp2 NA19058.hp2 |
a0003a0004 | a0003c0006a0004c0003 | a0003c0006t0003a0004c0003t0001 | a0003c0006t0003g0014a0004c0003t0001g0068 | 2 | 228 | 0.0088 | -9 | c.295 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 20/21 | chr15 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100077283 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02451.hp2 others(2): Show |
a0001a0003a0004 | a0001c0047a0003c0006a0003c0013others(1): Show | a0001c0047t0005a0003c0006t0021a0003c0013t0001others(1): Show | a0001c0047t0005g0209a0003c0006t0021g0088a0003c0006t0021g0089others(2): Show | 5 | 228 | 0.0219 | -9 | c.213 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77375890 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(58): Show |
a0002a0004a0005others(9): Show | a0002c0007a0002c0055a0002c0057others(14): Show | a0002c0007t0004a0002c0007t0005a0002c0007t0012others(29): Show | a0002c0007t0004g0070a0002c0007t0004g0165a0002c0007t0004g0218others(58): Show | 61 | 326 | 0.1871 | -9 | c.496 others(26): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | ||||||
ADAMTS18_chr16_77277128_77440034 | 77400472 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01934.hp1 others(1): Show |
a0005a0006a0041 | a0005c0004a0006c0005a0041c0056 | a0005c0004t0001a0006c0005t0003a0041c0056t0053 | a0005c0004t0001g0273a0005c0004t0001g0274a0006c0005t0003g0248others(1): Show | 4 | 326 | 0.0123 | -9 | c.495 others(28): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar |