view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTMAP_chr19_40735861_40755477 | 40753384 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0005 a0001c0001t0005g0107 a0001c0001t0005g0111 others(1): Show |
7 | 83 | 0.0843 | 9 | c.-35 others(20): Show |
ACTMAP | ENSG00000188493.15 | transcript | ENST00000378313.7 | protein_coding | 2908 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68881955 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(34): Show |
a0001a0006 | a0001c0001a0001c0009a0006c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0164 others(34): Show |
37 | 139 | 0.2662 | 9 | c.195 others(26): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02040.hp2 HG02055.hp2 others(23): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(3): Show | a0001c0001t0003g0221 a0001c0001t0003g0254 a0001c0001t0003g0255 others(23): Show |
26 | 127 | 0.2047 | 9 | c.162 others(28): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38659065 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00735.hp1 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0019a0001c0002t0001a0001c0002t0006others(7): Show | a0001c0001t0019g0198 a0001c0001t0019g0199 a0001c0002t0001g0037 others(15): Show |
18 | 119 | 0.1513 | 9 | c.162 others(28): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38728410 | G | GCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0044 a0001c0002t0001g0279 a0001c0004t0005g0233 |
3 | 181 | 0.0166 | 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 | A | AGGTCTCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG01257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(4): Show | a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0113 others(17): Show |
20 | 121 | 0.1653 | 9 | c.*65 others(20): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4420 | chr19 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0063 a0001c0001t0002g0252 a0001c0001t0003g0025 others(4): Show |
10 | 28 | 0.3571 | 9 | c.101 others(26): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0203 others(5): Show |
8 | 25 | 0.3200 | 9 | c.337 others(26): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3C_chr7_150242212_150328545 | 150248659 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02109.hp1 HG02109.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0201 others(19): Show |
23 | 230 | 0.1000 | 9 | c.*38 others(24): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ACTR3C_chr7_150242212_150328545 | 150250202 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02818.hp2 HG02886.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(1): Show | a0001c0001t0001g0214 a0001c0001t0005g0186 a0002c0002t0001g0012 others(4): Show |
7 | 227 | 0.0308 | 9 | c.565 others(26): Show |
ACTR3C | ENSG00000106526.12 | transcript | ENST00000683684.1 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016567 | A | AGGGACGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0000 a0001c0004t0002g0000 a0002c0002t0001g0000 others(2): Show |
59 | 278 | 0.2122 | 9 | c.-51 others(20): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4899 | chr1 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51951578 | G | GCGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(97): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0122 others(87): Show |
100 | 322 | 0.3106 | 9 | c.-16 others(18): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 120 | chr12 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844400 | G | GGCCGCCG others(2): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG02004.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0049 a0001c0002t0001g0051 others(2): Show |
5 | 316 | 0.0158 | 9 | c.-75 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 628 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844409 | T | TGCCGCCG others(2): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 NA18941.hp2 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0002g0019 a0001c0001t0003g0286 |
4 | 143 | 0.0280 | 9 | c.-74 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 619 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00642.hp1 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0015 | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0023 others(22): Show |
26 | 84 | 0.3095 | 9 | c.-15 others(18): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51990672 | T | TGCCGTCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01934.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(1): Show |
25 | 336 | 0.0744 | 9 | c.*15 others(20): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1476 | chr3 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG01168.hp2 HG01169.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0171 others(12): Show |
15 | 71 | 0.2113 | 9 | c.-37 others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53969916 | C | CTTAAGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02976.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0006a0003c0004t0007 | a0001c0002t0006g0002 a0001c0002t0006g0003 a0003c0004t0007g0005 others(1): Show |
4 | 270 | 0.0148 | 9 | c.-14 others(20): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 1196 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 54019609 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0011 a0001c0002t0002g0041 a0001c0002t0002g0047 others(4): Show |
7 | 196 | 0.0357 | 9 | c.63- others(26): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54195794 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(66): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0117 a0001c0001t0001g0131 others(66): Show |
69 | 159 | 0.4340 | 9 | c.404 others(28): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM15_chr1_155046316_155067775 | 155046600 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp1 others(112): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(62): Show |
115 | 136 | 0.8456 | 9 | c.-47 others(20): Show |
ADAM15 | ENSG00000143537.14 | transcript | ENST00000356955.7 | protein_coding | 4715 | chr1 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTTCCCT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01109.hp2 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0011others(27): Show | a0001c0001t0004g0084 a0001c0001t0008g0121 a0001c0001t0011g0111 others(50): Show |
53 | 180 | 0.2944 | 9 | c.844 others(24): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39580688 | C | CGGTCATG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(291): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0007others(20): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(21): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0139 others(285): Show |
294 | 346 | 0.8497 | 9 | c.-39 others(20): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 3879 | chr8 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01981.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0021a0005c0005t0004 | a0001c0001t0001g0039 a0001c0001t0001g0100 a0001c0001t0001g0216 others(2): Show |
5 | 52 | 0.0962 | 9 | c.247 others(28): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87982699 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03239.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0002g0096 a0001c0001t0010g0170 a0001c0001t0015g0188 others(2): Show |
5 | 104 | 0.0481 | 9 | c.323 others(26): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
ADAM23_chr2_206438532_206626127 | 206473572 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042 | a0001c0001t0001g0005 a0001c0001t0001g0317 a0001c0001t0042g0295 |
4 | 275 | 0.0145 | 9 | c.433 others(26): Show |
ADAM23 | ENSG00000114948.13 | transcript | ENST00000264377.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24325887 | A | ACAAACAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02071.hp2 HG02698.hp2 others(24): Show |
a0001a0002 | a0001c0017a0002c0003a0002c0031others(1): Show | a0001c0017t0002a0002c0003t0001a0002c0003t0002others(8): Show | a0001c0017t0002g0124 a0002c0003t0001g0002 a0002c0003t0001g0249 others(19): Show |
27 | 294 | 0.0918 | 9 | c.891 others(24): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 9/22 | chr8 | TogoVar | |||||||
ADAM29_chr4_174913358_174983180 | 174928569 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(153): Show |
182 | 208 | 0.8750 | 9 | c.-45 others(28): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAM32_chr8_39102734_39289917 | 39273529 | A | AAAAACAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(72): Show |
a0001a0002a0009 | a0001c0002a0002c0005a0009c0014 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0162 others(71): Show |
75 | 218 | 0.3440 | 9 | c.220 others(26): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39009964 | A | AAACAAAC others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01192.hp1 HG01257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0033 others(11): Show |
14 | 205 | 0.0683 | 9 | c.196 others(26): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 2/21 | chr8 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133458555 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(50): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0005a0001c0010others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0050 others(46): Show |
53 | 115 | 0.4609 | 9 | c.391 others(26): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70671096 | T | TCTCTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02630.hp1 HG03831.hp1 others(1): Show |
a0002a0003a0023 | a0002c0001a0003c0016a0023c0097 | a0002c0001t0001a0002c0001t0053a0003c0016t0015others(1): Show | a0002c0001t0001g0287 a0002c0001t0053g0286 a0003c0016t0015g0109 others(1): Show |
4 | 352 | 0.0114 | 9 | c.-17 others(20): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 1409 | chr10 | TogoVar | |||||||
ADAMTS15_chr11_130443645_130481645 | 130472680 | C | CCCTCCTC others(2): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0141 a0001c0001t0005g0170 a0001c0001t0005g0171 others(2): Show |
5 | 358 | 0.0140 | 9 | c.207 others(26): Show |
ADAMTS15 | ENSG00000166106.4 | transcript | ENST00000299164.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5137796 | G | GAGCGGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0010a0001c0022others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(30): Show | a0001c0001t0001g0132 a0001c0001t0003g0054 a0001c0001t0017g0321 others(36): Show |
39 | 330 | 0.1182 | 9 | c.-26 others(20): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 2533 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5168352 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(43): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0010a0001c0022others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(37): Show | a0001c0001t0001g0316 a0001c0001t0003g0329 a0001c0001t0008g0044 others(43): Show |
46 | 224 | 0.2054 | 9 | c.502 others(28): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5206425 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(30): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0022a0001c0032others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(26): Show | a0001c0001t0001g0043 a0001c0001t0003g0329 a0001c0001t0012g0234 others(30): Show |
33 | 67 | 0.4925 | 9 | c.145 others(28): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100045142 | T | TAGTAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02004.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0010a0001c0040others(10): Show | a0001c0002t0066a0001c0010t0020a0001c0040t0040others(11): Show | a0001c0002t0066g0213 a0001c0010t0020g0004 a0001c0010t0020g0018 others(12): Show |
15 | 220 | 0.0682 | 9 | c.259 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100077461 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02451.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0046a0003c0006a0003c0012others(3): Show | a0001c0046t0004a0003c0006t0021a0003c0012t0001others(3): Show | a0001c0046t0004g0209 a0003c0006t0021g0088 a0003c0006t0021g0089 others(4): Show |
7 | 10 | 0.7000 | 9 | c.213 others(30): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100091010 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03130.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0021a0002c0001a0002c0054others(2): Show | a0001c0021t0016a0002c0001t0016a0002c0054t0014others(2): Show | a0001c0021t0016g0113 a0002c0001t0016g0205 a0002c0054t0014g0002 others(2): Show |
5 | 138 | 0.0362 | 9 | c.213 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100116132 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03225.hp1 HG03669.hp1 others(3): Show |
a0001a0002a0003 | a0001c0007a0001c0040a0002c0022others(2): Show | a0001c0007t0005a0001c0040t0040a0002c0022t0004others(3): Show | a0001c0007t0005g0137 a0001c0040t0040g0165 a0002c0022t0004g0181 others(3): Show |
6 | 103 | 0.0583 | 9 | c.188 others(26): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100301320 | G | GGTTATAT others(2): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02129.hp2 HG02293.hp1 others(1): Show |
a0001a0003a0005 | a0001c0002a0003c0009a0003c0013others(1): Show | a0001c0002t0011a0003c0009t0003a0003c0013t0001others(1): Show | a0001c0002t0011g0160 a0003c0009t0003g0043 a0003c0013t0001g0131 others(1): Show |
4 | 225 | 0.0178 | 9 | c.617 others(28): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 3/21 | chr15 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77281484 | T | TTCCTGCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG02015.hp2 others(14): Show |
a0007a0009a0014others(1): Show | a0007c0010a0009c0009a0014c0015others(1): Show | a0007c0010t0001a0009c0009t0001a0009c0009t0014others(2): Show | a0007c0010t0001g0127 a0009c0009t0001g0020 a0009c0009t0001g0022 others(14): Show |
17 | 324 | 0.0525 | 9 | c.*24 others(20): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 643 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77281489 | G | GCCCATCC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(219): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0016a0001c0024others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(97): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(218): Show |
222 | 324 | 0.6852 | 9 | c.*24 others(20): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 638 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77365179 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0016a0001c0023others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(95): Show | a0001c0001t0001g0119 a0001c0001t0002g0001 a0001c0001t0002g0025 others(235): Show |
239 | 275 | 0.8691 | 9 | c.779 others(24): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 4/22 | chr16 | TogoVar | |||||||
ADAMTS18_chr16_77277128_77440034 | 77415725 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02615.hp1 others(4): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0007a0003c0002others(3): Show | a0001c0001t0016a0002c0007t0005a0003c0002t0023others(4): Show | a0001c0001t0016g0137 a0002c0007t0005g0005 a0003c0002t0023g0271 others(4): Show |
7 | 177 | 0.0395 | 9 | c.495 others(28): Show |
ADAMTS18 | ENSG00000140873.16 | transcript | ENST00000282849.10 | protein_coding | 3/22 | chr16 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129536933 | T | TAGCATTA others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0039 |
2 | 224 | 0.0089 | 9 | c.132 others(28): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS19_chr5_129455298_129743683 | 129547282 | G | GGAAGCCT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0185 |
3 | 224 | 0.0134 | 9 | c.132 others(28): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 6/22 | chr5 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129721829 | A | ACTTATGA others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0007a0002c0004t0005 | a0001c0001t0005g0056 a0001c0001t0005g0129 a0001c0001t0005g0221 others(3): Show |
6 | 224 | 0.0268 | 9 | c.331 others(30): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS20_chr12_43348866_43557203 | 43405229 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0059 others(6): Show |
9 | 47 | 0.1915 | 9 | c.428 others(28): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar | |||||||
ADAMTS20_chr12_43348866_43557203 | 43409601 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01516.hp2 HG02970.hp1 others(9): Show |
a0001a0007a0009 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(3): Show | a0001c0001t0001g0162 a0001c0003t0001g0149 a0001c0003t0001g0180 others(9): Show |
12 | 33 | 0.3636 | 9 | c.428 others(30): Show |
ADAMTS20 | ENSG00000173157.18 | transcript | ENST00000389420.8 | protein_coding | 28/38 | chr12 | TogoVar |