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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL1_chr9_18469153_18915950 | 18739899 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02897.hp2 NA18906.hp1 |
a0002a0027 | a0002c0036a0002c0043a0027c0044 | a0002c0036t0001a0002c0043t0002a0027c0044t0014 | a0002c0036t0001g0136 a0002c0043t0002g0159 a0027c0044t0014g0123 |
3 | 75 | 0.0400 | 14 | c.200 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18752090 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG01109.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0023others(5): Show | a0001c0002t0005a0001c0003t0005a0001c0023t0001others(5): Show | a0001c0002t0005g0045 a0001c0003t0005g0211 a0001c0023t0001g0175 others(6): Show |
9 | 186 | 0.0484 | 14 | c.200 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18756076 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01257.hp2 HG01516.hp2 others(3): Show |
a0001a0004 | a0001c0002a0001c0007a0001c0010others(2): Show | a0001c0002t0004a0001c0007t0004a0001c0007t0031others(3): Show | a0001c0002t0004g0046 a0001c0007t0004g0017 a0001c0007t0031g0140 others(3): Show |
6 | 15 | 0.4000 | 14 | c.221 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 16/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18838402 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG03704.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0010others(3): Show | a0001c0003t0001a0001c0005t0004a0001c0010t0004others(3): Show | a0001c0003t0001g0196 a0001c0005t0004g0167 a0001c0010t0004g0150 others(3): Show |
6 | 69 | 0.0870 | 14 | c.424 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18849174 | T | TTTTTAAT others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0080 | a0001c0080t0002 | a0001c0080t0002g0004 | 1 | 216 | 0.0046 | 14 | c.424 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | chr9 | TogoVar | |||||||
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19074.hp1 |
a0003a0021 | a0003c0012a0021c0031 | a0003c0012t0001a0021c0031t0003 | a0003c0012t0001g0085 a0021c0031t0003g0005 |
2 | 104 | 0.0192 | 14 | c.424 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0007 | a0007c0060 | a0007c0060t0001 | a0007c0060t0001g0048 | 1 | 103 | 0.0097 | 14 | c.424 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18853918 | T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0017 | a0008c0017t0004 | a0008c0017t0004g0157 | 1 | 103 | 0.0097 | 14 | c.424 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18866116 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00733.hp2 others(16): Show |
a0001a0002a0004others(4): Show | a0001c0003a0001c0008a0001c0051others(12): Show | a0001c0003t0015a0001c0003t0032a0001c0008t0002others(13): Show | a0001c0003t0015g0188 a0001c0003t0032g0199 a0001c0008t0002g0070 others(16): Show |
19 | 70 | 0.2714 | 14 | c.425 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18876301 | C | CGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG01192.hp2 others(18): Show |
a0001a0002a0004others(4): Show | a0001c0003a0001c0005a0001c0006others(14): Show | a0001c0003t0003a0001c0005t0002a0001c0005t0003others(16): Show | a0001c0003t0003g0121 a0001c0005t0002g0009 a0001c0005t0003g0011 others(18): Show |
21 | 73 | 0.2877 | 14 | c.425 others(35): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL1_chr9_18469153_18915950 | 18886166 | G | GTATGTAT others(7): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0114 | 1 | 138 | 0.0072 | 14 | c.425 others(33): Show |
ADAMTSL1 | ENSG00000178031.18 | transcript | ENST00000380548.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL2_chr9_133529704_133580519 | 133564134 | G | GAGAAGGA others(7): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01192.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0003a0001c0006t0005others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0056 others(4): Show |
7 | 149 | 0.0470 | 14 | c.174 others(33): Show |
ADAMTSL2 | ENSG00000197859.11 | transcript | ENST00000651351.2 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83688749 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0164 | 1 | 256 | 0.0039 | 14 | c.70- others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83688751 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02738.hp2 HG03098.hp1 others(2): Show |
a0002a0003a0018 | a0002c0002a0002c0020a0003c0003others(1): Show | a0002c0002t0001a0002c0020t0001a0003c0003t0001others(1): Show | a0002c0002t0001g0165 a0002c0002t0001g0190 a0002c0020t0001g0151 others(2): Show |
5 | 161 | 0.0311 | 14 | c.70- others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83714785 | T | TTCTTTCT others(7): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03041.hp1 HG03195.hp2 others(2): Show |
a0002 | a0002c0008a0002c0016 | a0002c0008t0001a0002c0016t0001 | a0002c0008t0001g0239 a0002c0008t0001g0241 a0002c0016t0001g0172 others(2): Show |
5 | 191 | 0.0262 | 14 | c.189 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(7): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0155 | 1 | 133 | 0.0075 | 14 | c.318 others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp2 HG02572.hp2 others(6): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0008a0002c0020others(5): Show | a0002c0002t0004a0002c0008t0001a0002c0020t0001others(5): Show | a0002c0002t0004g0121 a0002c0008t0001g0035 a0002c0020t0001g0151 others(6): Show |
9 | 141 | 0.0638 | 14 | c.318 others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801651 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0025 | 1 | 133 | 0.0075 | 14 | c.318 others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801655 | T | TAAATATA others(7): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0177 | 1 | 265 | 0.0038 | 14 | c.318 others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83801657 | T | TATATAAA others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0030 | a0030c0062 | a0030c0062t0001 | a0030c0062t0001g0037 | 1 | 226 | 0.0044 | 14 | c.318 others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83872627 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03017.hp2 HG03098.hp1 others(3): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0016a0004c0004others(3): Show | a0002c0002t0001a0002c0016t0001a0004c0004t0001others(3): Show | a0002c0002t0001g0165 a0002c0016t0001g0172 a0004c0004t0001g0261 others(3): Show |
6 | 62 | 0.0968 | 14 | c.960 others(31): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83948411 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0009 | a0009c0009 | a0009c0009t0009 | a0009c0009t0009g0046 | 1 | 26 | 0.0385 | 14 | c.249 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 84019076 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02738.hp2 NA18939.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0108 others(4): Show |
7 | 23 | 0.3043 | 14 | c.427 others(33): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ADAMTSL4_chr1_150544408_150565933 | 150559084 | A | ACCCCCAC others(7): Show |
frameshift_variant | HIGH | NA18954.hp2 | a0023 | a0023c0035 | a0023c0035t0001 | a0023c0035t0001g0003 | 1 | 438 | 0.0023 | 14 | c.268 others(23): Show |
p.Ser others(5): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2933/4212 | 2683/3225 | 895/1074 | chr1 | TogoVar | |||
ADAP1_chr7_892900_959680 | 906017 | G | GAGAAAGG others(7): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 7 | 0.1429 | 14 | c.389 others(29): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 943611 | G | GAGTGAGG others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 12 | 0.0833 | 14 | c.83- others(29): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 943754 | G | GAATGAGG others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 12 | 0.0833 | 14 | c.83- others(29): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
ADAP2_chr17_30916945_30964322 | 30917021 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 209 | 0.0048 | 14 | c.-49 others(25): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 4923 | chr17 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45155463 | A | AGGACGGG others(7): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0282 | 1 | 348 | 0.0029 | 14 | c.-47 others(33): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1293208 | G | GAGGGAGA others(7): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0070 | 1 | 106 | 0.0094 | 14 | c.107 others(35): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1293230 | G | GAGGGAGA others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02897.hp1 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0002c0002t0021 | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0012g0024 others(1): Show |
4 | 106 | 0.0377 | 14 | c.107 others(35): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1337082 | G | GTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 |
a0001 | a0001c0003 | a0001c0003t0032a0001c0003t0039 | a0001c0003t0032g0071 a0001c0003t0039g0044 |
2 | 92 | 0.0217 | 14 | c.107 others(35): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1514178 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01934.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0036a0001c0001t0051a0001c0001t0055others(7): Show | a0001c0001t0036g0072 a0001c0001t0051g0051 a0001c0001t0055g0089 others(7): Show |
10 | 19 | 0.5263 | 14 | c.101 others(35): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1544956 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02602.hp2 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0044a0002c0002t0065 | a0002c0002t0004g0101 a0002c0002t0044g0049 a0002c0002t0065g0086 |
3 | 12 | 0.2500 | 14 | c.101 others(35): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1673314 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02080.hp1 HG02080.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0013a0001c0001t0017a0001c0001t0051others(5): Show | a0001c0001t0013g0007 a0001c0001t0017g0030 a0001c0001t0051g0051 others(5): Show |
8 | 21 | 0.3810 | 14 | c.100 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1717022 | G | GTTATTCT others(7): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0014 | a0002c0014t0008 | a0002c0014t0008g0060 | 1 | 106 | 0.0094 | 14 | c.100 others(33): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604456 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0109 | 1 | 274 | 0.0036 | 14 | c.129 others(33): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75604456 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0005 | a0004c0005t0012 | a0004c0005t0012g0108 | 1 | 274 | 0.0036 | 14 | c.129 others(33): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 8/9 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0006 | a0005c0006t0017 | a0005c0006t0017g0118 | 1 | 68 | 0.0147 | 14 | c.-17 others(25): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA19006.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 a0002c0002t0001g0185 |
2 | 69 | 0.0290 | 14 | c.-17 others(25): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT1_chr16_75591868_75628281 | 75624133 | A | ATATATAT others(7): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 68 | 0.0147 | 14 | c.-17 others(25): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 853 | chr16 | TogoVar | |||||||
ADAT2_chr6_143417832_143455695 | 143425733 | T | TTGTGTGT others(7): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01346.hp1 HG01934.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0018a0001c0001t0048a0001c0001t0060others(11): Show | a0001c0001t0018g0015 a0001c0001t0018g0096 a0001c0001t0048g0171 others(13): Show |
17 | 37 | 0.4595 | 14 | c.*27 others(25): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 2729 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143427096 | A | AACACACA others(7): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp2 HG02572.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0096a0001c0001t0097a0001c0001t0171 | a0001c0001t0096g0102 a0001c0001t0097g0091 a0001c0001t0171g0259 |
3 | 24 | 0.1250 | 14 | c.*13 others(25): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 6/6 | 1366 | chr6 | TogoVar | ||||||
ADAT2_chr6_143417832_143455695 | 143442476 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0107 | a0001c0001t0052g0258 a0001c0001t0107g0069 |
2 | 122 | 0.0164 | 14 | c.97- others(29): Show |
ADAT2 | ENSG00000189007.16 | transcript | ENST00000237283.9 | protein_coding | 1/5 | chr6 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TGGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03209.hp1 HG03486.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0017 | 4 | 137 | 0.0292 | 14 | c.-15 others(33): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
ADAT3_chr19_1900399_1918447 | 1906866 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18978.hp2 NA18986.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 a0001c0002t0001g0059 |
2 | 135 | 0.0148 | 14 | c.-15 others(33): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77816881 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01255.hp2 others(15): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0220 a0001c0001t0001g0238 a0001c0001t0001g0240 others(15): Show |
18 | 139 | 0.1295 | 14 | c.-11 others(31): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852656 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 250 | 0.0040 | 14 | c.220 others(31): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATAAATA others(7): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0182 | 1 | 67 | 0.0149 | 14 | c.220 others(31): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77852660 | A | AATAAATA others(7): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 67 | 0.0149 | 14 | c.220 others(31): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |