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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAM12_chr10_126007391_126393477 | 126338246 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(17): Show | a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0002g0228 others(25): Show |
28 | 101 | 0.2772 | 5 | c.89- others(20): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 1/22 | chr10 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9520964 | C | CAAAAA | intron_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0048 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(2): Show |
5 | 98 | 0.0510 | 5 | c.957 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9521840 | T | TCTTCC | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02647.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0031others(3): Show | a0001c0001t0001g0038 a0001c0001t0011g0110 a0001c0001t0011g0113 others(6): Show |
9 | 136 | 0.0662 | 5 | c.844 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 7/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9527283 | C | CAAACA | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG02055.hp2 others(10): Show |
a0002a0007 | a0002c0003a0007c0010 | a0002c0003t0025a0002c0003t0038a0002c0003t0039others(9): Show | a0002c0003t0025g0061 a0002c0003t0025g0063 a0002c0003t0038g0056 others(10): Show |
13 | 149 | 0.0872 | 5 | c.619 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9527283 | C | CAAAGA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(73): Show |
76 | 212 | 0.3585 | 5 | c.619 others(20): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
ADAM17_chr2_9483486_9560830 | 9537876 | A | AGAGGG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(69): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(69): Show |
72 | 225 | 0.3200 | 5 | c.231 others(22): Show |
ADAM17 | ENSG00000151694.15 | transcript | ENST00000310823.8 | protein_coding | 2/18 | chr2 | TogoVar | |||||||
ADAM18_chr8_39579568_39735065 | 39701117 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00621.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0171 others(30): Show |
33 | 93 | 0.3548 | 5 | c.190 others(24): Show |
ADAM18 | ENSG00000168619.16 | transcript | ENST00000265707.10 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM19_chr5_157472304_157580775 | 157504843 | A | AGCCGG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(138): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0014others(9): Show | a0001c0001t0027a0002c0002t0001a0002c0002t0002others(36): Show | a0001c0001t0027g0102 a0002c0002t0001g0086 a0002c0002t0002g0047 others(134): Show |
141 | 308 | 0.4578 | 5 | c.113 others(22): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
ADAM19_chr5_157472304_157580775 | 157522308 | C | CTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(186): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0019a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0156 others(180): Show |
189 | 308 | 0.6136 | 5 | c.408 others(22): Show |
ADAM19 | ENSG00000135074.16 | transcript | ENST00000257527.9 | protein_coding | 5/22 | chr5 | TogoVar | |||||||
ADAM20_chr14_70517358_70540004 | 70520668 | T | TAACAC | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0024 others(2): Show |
19 | 398 | 0.0477 | 5 | c.*19 others(16): Show |
ADAM20 | ENSG00000134007.5 | transcript | ENST00000256389.5 | protein_coding | 1689 | chr14 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87966721 | G | GTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01071.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(31): Show |
34 | 81 | 0.4198 | 5 | c.247 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 87967807 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00738.hp2 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0018a0001c0019others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0039 a0001c0001t0001g0060 others(43): Show |
46 | 124 | 0.3710 | 5 | c.247 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88039464 | A | ATATAT | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02809.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(2): Show | a0003c0003t0001g0046 a0003c0003t0001g0051 a0003c0003t0001g0142 others(5): Show |
8 | 84 | 0.0952 | 5 | c.324 others(24): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | chr7 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24297159 | G | GTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0001a0003c0006t0002a0003c0006t0013 | a0003c0006t0001g0279 a0003c0006t0002g0275 a0003c0006t0002g0276 others(4): Show |
7 | 295 | 0.0237 | 5 | c.47- others(20): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24305451 | C | CTTTTT | intron_variant | MODIFIER | HG02071.hp2 HG03491.hp1 HG03492.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0033 | a0001c0002t0001a0002c0003t0002a0002c0003t0003others(1): Show | a0001c0002t0001g0038 a0002c0003t0002g0264 a0002c0003t0003g0019 others(2): Show |
6 | 202 | 0.0297 | 5 | c.151 others(22): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM28_chr8_24289069_24364014 | 24358935 | A | AAAACT | 3_prime_UTR_variant | MODIFIER | NA18971.hp2 NA18986.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0060 a0001c0001t0011g0077 a0001c0001t0011g0079 |
3 | 346 | 0.0087 | 5 | c.*45 others(16): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 23/23 | 4538 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADAM29_chr4_174913358_174983180 | 174928569 | T | TTAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG02630.hp2 others(13): Show |
a0001a0004a0005 | a0001c0001a0001c0009a0001c0016others(3): Show | a0001c0001t0002a0001c0009t0013a0001c0016t0002others(3): Show | a0001c0001t0002g0030 a0001c0001t0002g0038 a0001c0001t0002g0040 others(11): Show |
16 | 42 | 0.3810 | 5 | c.-45 others(24): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
ADAM29_chr4_174913358_174983180 | 174955661 | C | CTTATT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(150): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0106 a0001c0001t0001g0122 a0001c0001t0001g0124 others(120): Show |
153 | 328 | 0.4665 | 5 | c.-18 others(26): Show |
ADAM29 | ENSG00000168594.15 | transcript | ENST00000359240.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADAM2_chr8_39738735_39843227 | 39834732 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp1 others(57): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(49): Show |
60 | 182 | 0.3297 | 5 | c.133 others(20): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 2/20 | chr8 | TogoVar | |||||||
ADAM32_chr8_39102734_39289917 | 39130956 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0158 others(40): Show |
43 | 235 | 0.1830 | 5 | c.139 others(22): Show |
ADAM32 | ENSG00000197140.15 | transcript | ENST00000379907.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM33_chr20_3662975_3687010 | 3679136 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG01952.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0057 a0001c0001t0001g0175 a0001c0001t0001g0304 others(16): Show |
19 | 226 | 0.0841 | 5 | c.177 others(20): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 2/21 | chr20 | TogoVar | |||||||
ADAM7_chr8_24436026_24514565 | 24443939 | A | AAAAAT | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01361.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0052 others(10): Show |
15 | 140 | 0.1071 | 5 | c.156 others(22): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24479361 | T | TTTTTG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0026 a0001c0001t0001g0145 a0001c0001t0001g0146 others(2): Show |
6 | 358 | 0.0168 | 5 | c.706 others(22): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24487369 | G | GGTGCA | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0145 a0001c0001t0001g0146 others(1): Show |
5 | 358 | 0.0140 | 5 | c.109 others(20): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM7_chr8_24436026_24514565 | 24504023 | A | AAAAAT | intron_variant | MODIFIER | HG02630.hp1 NA18612.hp1 NA18747.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0195 a0001c0001t0002g0021 a0001c0001t0002g0076 others(9): Show |
13 | 222 | 0.0586 | 5 | c.220 others(24): Show |
ADAM7 | ENSG00000069206.15 | transcript | ENST00000175238.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM8_chr10_133257423_133281868 | 133261691 | T | TGGGGG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(157): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(67): Show |
160 | 214 | 0.7477 | 5 | c.*14 others(16): Show |
ADAM8 | ENSG00000151651.16 | transcript | ENST00000445355.8 | protein_coding | 731 | chr10 | TogoVar | |||||||
ADAM9_chr8_38991973_39110261 | 39009962 | A | AAAAAC | intron_variant | MODIFIER | HG01081.hp1 HG02647.hp2 NA18987.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0001 | a0001c0001t0001g0327 a0001c0001t0004g0332 a0001c0003t0001g0290 |
3 | 330 | 0.0091 | 5 | c.196 others(22): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39014824 | C | CTTTAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(274): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(274): Show |
277 | 330 | 0.8394 | 5 | c.333 others(20): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAM9_chr8_38991973_39110261 | 39037458 | G | GTGTGT | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG01257.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(9): Show |
12 | 205 | 0.0585 | 5 | c.113 others(24): Show |
ADAM9 | ENSG00000168615.13 | transcript | ENST00000487273.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADAMTS10_chr19_8575240_8615715 | 8581130 | C | CTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02280.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0003g0031 a0001c0001t0003g0122 a0001c0001t0004g0325 others(4): Show |
7 | 38 | 0.1842 | 5 | c.320 others(22): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 25/25 | chr19 | TogoVar | |||||||
ADAMTS10_chr19_8575240_8615715 | 8615692 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01106.hp2 others(15): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0199 a0001c0001t0001g0200 others(15): Show |
18 | 115 | 0.1565 | 5 | c.-52 others(16): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 4978 | chr19 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33607216 | C | CCAATG | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01123.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0005others(4): Show | a0001c0001t0001g0135 a0001c0001t0001g0155 a0001c0001t0003g0136 others(7): Show |
10 | 222 | 0.0450 | 5 | c.252 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 16/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33655628 | T | TATTTA | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02258.hp2 others(5): Show |
a0001a0008a0010others(3): Show | a0001c0001a0001c0025a0001c0028others(5): Show | a0001c0001t0001a0001c0025t0012a0001c0028t0001others(5): Show | a0001c0001t0001g0128 a0001c0025t0012g0217 a0001c0028t0001g0189 others(5): Show |
8 | 69 | 0.1159 | 5 | c.119 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 7/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33705678 | T | TGGGCA | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0009a0003c0005others(2): Show | a0001c0001t0003a0002c0009t0001a0003c0005t0007others(2): Show | a0001c0001t0003g0104 a0002c0009t0001g0211 a0003c0005t0007g0040 others(2): Show |
5 | 222 | 0.0225 | 5 | c.635 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33730289 | G | GTGTGT | intron_variant | MODIFIER | HG03239.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0187 a0001c0001t0004g0055 |
2 | 83 | 0.0241 | 5 | c.634 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 3/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33832942 | T | TTTAAA | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02809.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0050a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0050t0005others(2): Show | a0001c0001t0001g0197 a0001c0001t0004g0053 a0001c0050t0005g0202 others(2): Show |
5 | 222 | 0.0225 | 5 | c.489 others(24): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS12_chr5_33518535_33896990 | 33872546 | G | GAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(29): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0003a0001c0036others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(18): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(29): Show |
32 | 145 | 0.2207 | 5 | c.489 others(22): Show |
ADAMTS12 | ENSG00000151388.11 | transcript | ENST00000504830.6 | protein_coding | 2/23 | chr5 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133438910 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01928.hp1 HG01978.hp1 others(6): Show |
a0002 | a0002c0002a0002c0006a0002c0052 | a0002c0002t0001a0002c0006t0001a0002c0052t0001 | a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0089 others(6): Show |
9 | 215 | 0.0419 | 5 | c.170 others(22): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133447294 | C | CTCTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(132): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0010others(27): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(27): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0027 others(117): Show |
135 | 362 | 0.3729 | 5 | c.273 others(24): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 21/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTS13_chr9_133417367_133464386 | 133460238 | C | CGCCCT | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG04204.hp2 |
a0001a0002 | a0001c0001a0001c0011a0002c0040 | a0001c0001t0001a0001c0011t0001a0002c0040t0001 | a0001c0001t0001g0139 a0001c0011t0001g0215 a0002c0040t0001g0300 |
3 | 362 | 0.0083 | 5 | c.*10 others(16): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 853 | chr9 | TogoVar | |||||||
ADAMTS13_chr9_133417367_133464386 | 133460248 | T | TGCCCC | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02630.hp2 others(3): Show |
a0005a0011a0017 | a0005c0007a0011c0015a0017c0020 | a0005c0007t0001a0011c0015t0001a0017c0020t0001 | a0005c0007t0001g0280 a0011c0015t0001g0023 a0011c0015t0001g0068 others(2): Show |
6 | 362 | 0.0166 | 5 | c.*10 others(16): Show |
ADAMTS13 | ENSG00000160323.19 | transcript | ENST00000355699.7 | protein_coding | 863 | chr9 | TogoVar | |||||||
ADAMTS14_chr10_70667506_70767441 | 70686274 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01109.hp1 others(26): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0004a0001c0007others(15): Show | a0001c0002t0018a0001c0002t0041a0001c0004t0009others(19): Show | a0001c0002t0018g0040 a0001c0002t0018g0045 a0001c0002t0041g0025 others(26): Show |
29 | 122 | 0.2377 | 5 | c.522 others(24): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70709495 | G | GTTTTT | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02074.hp2 others(3): Show |
a0004a0005a0006others(3): Show | a0004c0010a0005c0009a0006c0073others(3): Show | a0004c0010t0002a0005c0009t0009a0006c0073t0017others(3): Show | a0004c0010t0002g0285 a0005c0009t0009g0039 a0006c0073t0017g0033 others(3): Show |
6 | 20 | 0.3000 | 5 | c.870 others(20): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5158496 | A | ACTCCC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00735.hp1 others(37): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0010a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(29): Show | a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0003g0329 others(37): Show |
40 | 330 | 0.1212 | 5 | c.501 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5162759 | A | AGAGAG | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02886.hp2 others(3): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0023a0003c0007others(2): Show | a0001c0001t0008a0001c0023t0015a0003c0007t0010others(3): Show | a0001c0001t0008g0044 a0001c0023t0015g0223 a0003c0007t0010g0170 others(3): Show |
6 | 156 | 0.0385 | 5 | c.501 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5234869 | C | CAGAAA | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02109.hp1 others(7): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0050a0002c0005others(6): Show | a0001c0001t0001a0001c0050t0009a0002c0005t0001others(7): Show | a0001c0001t0001g0048 a0001c0050t0009g0070 a0002c0005t0001g0278 others(7): Show |
10 | 95 | 0.1053 | 5 | c.185 others(22): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5236300 | C | CGCCTT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02109.hp2 others(2): Show |
a0001a0004a0008others(2): Show | a0001c0001a0004c0024a0008c0039others(2): Show | a0001c0001t0001a0004c0024t0006a0008c0039t0015others(2): Show | a0001c0001t0001g0043 a0004c0024t0006g0002 a0008c0039t0015g0099 others(2): Show |
5 | 330 | 0.0152 | 5 | c.202 others(22): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 13/22 | chr5 | TogoVar | |||||||
ADAMTS16_chr5_5135330_5325304 | 5259878 | T | TCACCC | intron_variant | MODIFIER | HG01106.hp2 HG02886.hp2 HG03098.hp1 others(1): Show |
a0001a0004a0025 | a0001c0001a0004c0009a0004c0020others(1): Show | a0001c0001t0006a0004c0009t0001a0004c0020t0001others(1): Show | a0001c0001t0006g0069 a0004c0009t0001g0139 a0004c0020t0001g0102 others(1): Show |
4 | 330 | 0.0121 | 5 | c.266 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305385 | A | ACACAC | intron_variant | MODIFIER | HG02129.hp2 HG02273.hp1 HG03453.hp2 others(1): Show |
a0002a0003a0009 | a0002c0002a0002c0013a0003c0017others(1): Show | a0002c0002t0001a0002c0013t0002a0003c0017t0001others(1): Show | a0002c0002t0001g0217 a0002c0013t0002g0195 a0003c0017t0001g0244 others(1): Show |
4 | 217 | 0.0184 | 5 | c.318 others(24): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | chr5 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100088634 | A | AAACAG | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02486.hp1 |
a0001a0002 | a0001c0018a0002c0011 | a0001c0018t0016a0002c0011t0006a0002c0011t0039 | a0001c0018t0016g0223 a0002c0011t0006g0054 a0002c0011t0039g0013 |
3 | 226 | 0.0133 | 5 | c.213 others(24): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 15/21 | chr15 | TogoVar |