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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTSL4_chr1_150544408_150565933 | 150559099 | C | A | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.269 others(4): Show |
p.Asp others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2947/4212 | 2697/3225 | 899/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559102 | G | T | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.270 others(4): Show |
p.Met others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2950/4212 | 2700/3225 | 900/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559103 | C | G | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.270 others(4): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2951/4212 | 2701/3225 | 901/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559132 | A | C | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.273 others(4): Show |
p.Arg others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2980/4212 | 2730/3225 | 910/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559134 | C | G | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.273 others(4): Show |
p.Thr others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2982/4212 | 2732/3225 | 911/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559136 | T | A | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.273 others(4): Show |
p.Trp others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2984/4212 | 2734/3225 | 912/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559144 | G | T | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.274 others(4): Show |
p.Trp others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2992/4212 | 2742/3225 | 914/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559146 | A | G | missense_variant | MODERATE | NA18954.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0003 | 1 | 440 | 0.0023 | 0 | c.274 others(4): Show |
p.Tyr others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 16/19 | 2994/4212 | 2744/3225 | 915/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559429 | C | A | missense_variant | MODERATE | HG03704.hp1 | a0024 | a0024c0043 | a0024c0043t0001 | a0024c0043t0001g0001 | 1 | 440 | 0.0023 | 0 | c.290 others(4): Show |
p.Ala others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 17/19 | 3156/4212 | 2906/3225 | 969/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559780 | G | C | missense_variant | MODERATE | NA18952.hp1 | a0022 | a0022c0034 | a0022c0034t0001 | a0022c0034t0001g0003 | 1 | 440 | 0.0023 | 0 | c.296 others(4): Show |
p.Gly others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 18/19 | 3213/4212 | 2963/3225 | 988/1074 | chr1 | TogoVar | ||
ADAMTSL4_chr1_150544408_150565933 | 150559786 | C | T | missense_variant | MODERATE | HG02965.hp1 | a0023 | a0023c0044 | a0023c0044t0001 | a0023c0044t0001g0099 | 1 | 440 | 0.0023 | 0 | c.296 others(4): Show |
p.Thr others(6): Show |
ADAMTSL4 | ENSG00000143382.16 | transcript | ENST00000271643.9 | protein_coding | 18/19 | 3219/4212 | 2969/3225 | 990/1074 | chr1 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1506220 | C | T | missense_variant | MODERATE | HG03098.hp1 | a0007 | a0007c0017 | a0007c0017t0030 | a0007c0017t0030g0166 | 1 | 352 | 0.0028 | 0 | c.121 others(4): Show |
p.Arg others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 12/12 | 1485/2683 | 1211/1416 | 404/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1506221 | G | A | missense_variant | MODERATE | HG00738.hp2 HG01069.hp1 |
a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0030 | 2 | 352 | 0.0057 | 0 | c.121 others(4): Show |
p.Arg others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 12/12 | 1484/2683 | 1210/1416 | 404/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1506825 | A | T | missense_variant | MODERATE | HG02976.hp2 HG03130.hp2 NA20300.hp1 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0082a0002c0006t0002g0085a0002c0006t0002g0088 | 3 | 352 | 0.0085 | 0 | c.956 others(3): Show |
p.Leu others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 10/12 | 1230/2683 | 956/1416 | 319/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1507271 | C | T | missense_variant | MODERATE | HG02683.hp1 | a0008 | a0008c0010 | a0008c0010t0019 | a0008c0010t0019g0192 | 1 | 352 | 0.0028 | 0 | c.823 others(3): Show |
p.Gly others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 9/12 | 1097/2683 | 823/1416 | 275/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1507403 | G | T | missense_variant others(1): Show |
MODERATE | HG01109.hp1 | a0009 | a0009c0016 | a0009c0016t0005 | a0009c0016t0005g0149 | 1 | 352 | 0.0028 | 0 | c.691 others(3): Show |
p.Leu others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 9/12 | 965/2683 | 691/1416 | 231/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1507586 | C | A | missense_variant | MODERATE | HG01934.hp1 | a0006 | a0006c0014 | a0006c0014t0003 | a0006c0014t0003g0186 | 1 | 352 | 0.0028 | 0 | c.659 others(3): Show |
p.Arg others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 8/12 | 933/2683 | 659/1416 | 220/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1508033 | G | A | missense_variant | MODERATE | HG02015.hp2 | a0005 | a0005c0015 | a0005c0015t0002 | a0005c0015t0002g0108 | 1 | 352 | 0.0028 | 0 | c.566 others(3): Show |
p.Ser others(6): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 7/12 | 840/2683 | 566/1416 | 189/471 | chr19 | TogoVar | ||
ADAMTSL5_chr19_1500022_1518019 | 1510639 | C | T | missense_variant others(1): Show |
MODERATE | HG02630.hp1 | a0004 | a0004c0009 | a0004c0009t0036 | a0004c0009t0036g0210 | 1 | 352 | 0.0028 | 0 | c.191 others(3): Show |
p.Arg others(5): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 3/12 | 465/2683 | 191/1416 | 64/471 | chr19 | TogoVar | ||
ADAP1_chr7_892900_959680 | 900544 | C | T | missense_variant | MODERATE | HG01346.hp1 HG01346.hp2 HG01993.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(10): Show | 13 | 14 | 0.9286 | 0 | c.721 others(3): Show |
p.Gly others(6): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 7/11 | 924/2349 | 721/1125 | 241/374 | chr7 | TogoVar | ||
ADAP2_chr17_30916945_30964322 | 30926831 | T | A | missense_variant | MODERATE | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 282 | 0.0036 | 0 | c.230 others(3): Show |
p.Met others(5): Show |
ADAP2 | ENSG00000184060.11 | transcript | ENST00000330889.8 | protein_coding | 3/11 | 300/2669 | 230/1146 | 77/381 | chr17 | TogoVar | ||
ADARB1_chr21_45069580_45231560 | 45175760 | G | T | missense_variant | MODERATE | HG01891.hp1 | a0002 | a0002c0016 | a0002c0016t0073 | a0002c0016t0073g0047 | 1 | 350 | 0.0029 | 0 | c.59G others(2): Show |
p.Arg others(5): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 4/11 | 492/6902 | 59/2106 | 20/701 | chr21 | TogoVar | ||
ADARB1_chr21_45069580_45231560 | 45176531 | C | T | missense_variant | MODERATE | HG02818.hp2 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0214 | 1 | 350 | 0.0029 | 0 | c.830 others(3): Show |
p.Ser others(6): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 4/11 | 1263/6902 | 830/2106 | 277/701 | chr21 | TogoVar | ||
ADARB1_chr21_45069580_45231560 | 45222092 | G | C | missense_variant | MODERATE | NA19085.hp1 | a0004 | a0004c0011 | a0004c0011t0045 | a0004c0011t0045g0253 | 1 | 350 | 0.0029 | 0 | c.200 others(4): Show |
p.Glu others(6): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 11/11 | 2434/6902 | 2001/2106 | 667/701 | chr21 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1185028 | C | T | missense_variant | MODERATE | HG00408.hp2 HG00438.hp1 HG00639.hp1 others(46): Show |
a0002a0004a0006others(2): Show | a0002c0002a0002c0004a0002c0014others(5): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(28): Show | a0002c0002t0002g0043a0002c0002t0002g0050a0002c0002t0002g0066others(46): Show | 49 | 106 | 0.4623 | 0 | c.187 others(4): Show |
p.Ala others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 9/10 | 2251/8475 | 1876/2220 | 626/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1200002 | G | T | missense_variant | MODERATE | NA19011.hp1 | a0005 | a0005c0015 | a0005c0015t0014 | a0005c0015t0014g0008 | 1 | 106 | 0.0094 | 0 | c.182 others(4): Show |
p.Pro others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 8/10 | 2203/8475 | 1828/2220 | 610/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1217039 | C | T | missense_variant | MODERATE | HG03540.hp1 | a0008 | a0008c0013 | a0008c0013t0020 | a0008c0013t0020g0037 | 1 | 106 | 0.0094 | 0 | c.159 others(4): Show |
p.Val others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/10 | 1969/8475 | 1594/2220 | 532/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1217099 | C | T | missense_variant | MODERATE | NA21309.hp1 | a0007 | a0007c0011 | a0007c0011t0034 | a0007c0011t0034g0076 | 1 | 106 | 0.0094 | 0 | c.153 others(4): Show |
p.Val others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/10 | 1909/8475 | 1534/2220 | 512/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1363207 | C | T | missense_variant | MODERATE | HG00639.hp1 | a0009 | a0009c0010 | a0009c0010t0006 | a0009c0010t0006g0014 | 1 | 106 | 0.0094 | 0 | c.898 others(3): Show |
p.Glu others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/10 | 1273/8475 | 898/2220 | 300/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1363297 | T | C | missense_variant | MODERATE | HG00438.hp2 NA18983.hp1 NA19086.hp1 |
a0003a0006 | a0003c0006a0006c0012 | a0003c0006t0003a0003c0006t0067a0006c0012t0007 | a0003c0006t0003g0090a0003c0006t0067g0080a0006c0012t0007g0006 | 3 | 106 | 0.0283 | 0 | c.808 others(3): Show |
p.Thr others(6): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/10 | 1183/8475 | 808/2220 | 270/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1363822 | C | A | missense_variant | MODERATE | NA19011.hp1 | a0005 | a0005c0015 | a0005c0015t0014 | a0005c0015t0014g0008 | 1 | 106 | 0.0094 | 0 | c.283 others(3): Show |
p.Gly others(5): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/10 | 658/8475 | 283/2220 | 95/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1363834 | C | T | missense_variant | MODERATE | NA18998.hp1 | a0011 | a0011c0008 | a0011c0008t0016 | a0011c0008t0016g0003 | 1 | 106 | 0.0094 | 0 | c.271 others(3): Show |
p.Gly others(5): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/10 | 646/8475 | 271/2220 | 91/739 | chr10 | TogoVar | ||
ADARB2_chr10_1172313_1742525 | 1379131 | C | T | missense_variant | MODERATE | HG02257.hp1 HG02717.hp1 HG03669.hp1 others(1): Show |
a0004a0010a0011 | a0004c0005a0010c0009a0011c0008 | a0004c0005t0002a0004c0005t0037a0010c0009t0024others(1): Show | a0004c0005t0002g0039a0004c0005t0037g0064a0010c0009t0024g0016others(1): Show | 4 | 106 | 0.0377 | 0 | c.130 others(3): Show |
p.Ala others(5): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 2/10 | 505/8475 | 130/2220 | 44/739 | chr10 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154589418 | T | A | missense_variant | MODERATE | NA19068.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0212 | 1 | 416 | 0.0024 | 0 | c.271 others(4): Show |
p.Thr others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 9/15 | 2893/6610 | 2713/3681 | 905/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154589450 | A | G | missense_variant | MODERATE | NA19068.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0212 | 1 | 416 | 0.0024 | 0 | c.268 others(4): Show |
p.Val others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 9/15 | 2861/6610 | 2681/3681 | 894/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154589451 | C | A | missense_variant | MODERATE | NA19068.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0212 | 1 | 416 | 0.0024 | 0 | c.268 others(4): Show |
p.Val others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 9/15 | 2860/6610 | 2680/3681 | 894/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154596953 | T | G | missense_variant | MODERATE | HG02273.hp1 | a0010 | a0010c0019 | a0010c0019t0003 | a0010c0019t0003g0260 | 1 | 416 | 0.0024 | 0 | c.212 others(4): Show |
p.Met others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 6/15 | 2302/6610 | 2122/3681 | 708/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154598427 | T | C | missense_variant | MODERATE | HG02040.hp1 HG02055.hp1 HG02976.hp1 others(3): Show |
a0004a0009 | a0004c0005a0009c0020 | a0004c0005t0001a0004c0005t0018a0009c0020t0010 | a0004c0005t0001g0159a0004c0005t0001g0160a0004c0005t0001g0162others(3): Show | 6 | 416 | 0.0144 | 0 | c.176 others(4): Show |
p.Tyr others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 3/15 | 1940/6610 | 1760/3681 | 587/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154601491 | T | C | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
a0001a0007a0009others(1): Show | a0001c0001a0001c0007a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0090a0001c0001t0002g0002a0001c0001t0002g0005others(165): Show | 260 | 416 | 0.6250 | 0 | c.115 others(4): Show |
p.Lys others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 1331/6610 | 1151/3681 | 384/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154601639 | T | A | missense_variant | MODERATE | HG01109.hp1 HG01243.hp1 HG01433.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0007a0003c0004t0007g0227 | 7 | 416 | 0.0168 | 0 | c.100 others(4): Show |
p.Ile others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 1183/6610 | 1003/3681 | 335/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154601880 | G | C | missense_variant | MODERATE | HG03453.hp1 | a0007 | a0007c0023 | a0007c0023t0002 | a0007c0023t0002g0235 | 1 | 416 | 0.0024 | 0 | c.762 others(3): Show |
p.Asn others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 942/6610 | 762/3681 | 254/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154602065 | G | C | missense_variant | MODERATE | HG01516.hp1 | a0006 | a0006c0024 | a0006c0024t0019 | a0006c0024t0019g0215 | 1 | 416 | 0.0024 | 0 | c.577 others(3): Show |
p.Pro others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 757/6610 | 577/3681 | 193/1226 | chr1 | TogoVar | ||
ADAR_chr1_154577057_154613186 | 154602344 | T | C | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(409): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0008others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0090a0001c0001t0002g0002a0001c0001t0002g0005others(273): Show | 412 | 416 | 0.9904 | 0 | c.298 others(3): Show |
p.Arg others(6): Show |
ADAR | ENSG00000160710.18 | transcript | ENST00000368474.9 | protein_coding | 2/15 | 478/6610 | 298/3681 | 100/1226 | chr1 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612364 | C | T | missense_variant | MODERATE | NA18941.hp1 NA18972.hp1 NA19004.hp2 others(1): Show |
a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0003a0007c0007t0004g0034a0007c0007t0004g0035 | 4 | 348 | 0.0115 | 0 | c.922 others(3): Show |
p.Val others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1822/5757 | 922/1509 | 308/502 | chr16 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612468 | T | A | missense_variant | MODERATE | HG02572.hp2 HG03486.hp1 |
a0010 | a0010c0013 | a0010c0013t0003 | a0010c0013t0003g0076a0010c0013t0003g0079 | 2 | 348 | 0.0058 | 0 | c.818 others(3): Show |
p.Lys others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1718/5757 | 818/1509 | 273/502 | chr16 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612525 | A | G | missense_variant | MODERATE | HG00323.hp1 HG01257.hp2 HG01258.hp2 others(15): Show |
a0004a0012 | a0004c0005a0012c0015 | a0004c0005t0008a0004c0005t0012a0004c0005t0025others(6): Show | a0004c0005t0008g0007a0004c0005t0008g0107a0004c0005t0008g0108others(14): Show | 18 | 348 | 0.0517 | 0 | c.761 others(3): Show |
p.Ile others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1661/5757 | 761/1509 | 254/502 | chr16 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612562 | T | G | missense_variant | MODERATE | HG00423.hp1 NA19066.hp2 NA19082.hp2 others(1): Show |
a0006 | a0006c0009 | a0006c0009t0003a0006c0009t0053a0006c0009t0054others(1): Show | a0006c0009t0003g0088a0006c0009t0053g0133a0006c0009t0054g0182others(1): Show | 4 | 348 | 0.0115 | 0 | c.724 others(3): Show |
p.Thr others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1624/5757 | 724/1509 | 242/502 | chr16 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612610 | T | C | missense_variant | MODERATE | HG00738.hp1 HG01069.hp1 HG01071.hp2 others(11): Show |
a0005 | a0005c0006 | a0005c0006t0011a0005c0006t0017a0005c0006t0042others(5): Show | a0005c0006t0011g0113a0005c0006t0011g0115a0005c0006t0011g0117others(11): Show | 14 | 348 | 0.0402 | 0 | c.676 others(3): Show |
p.Ile others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1576/5757 | 676/1509 | 226/502 | chr16 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612613 | G | C | missense_variant | MODERATE | HG02647.hp2 NA20300.hp2 |
a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0214a0009c0014t0001g0215 | 2 | 348 | 0.0058 | 0 | c.673 others(3): Show |
p.Pro others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1573/5757 | 673/1509 | 225/502 | chr16 | TogoVar | ||
ADAT1_chr16_75591868_75628281 | 75612655 | C | T | missense_variant | MODERATE | HG02486.hp2 HG02647.hp1 |
a0011 | a0011c0012 | a0011c0012t0016 | a0011c0012t0016g0048a0011c0012t0016g0049 | 2 | 348 | 0.0058 | 0 | c.631 others(3): Show |
p.Gly others(6): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 6/10 | 1531/5757 | 631/1509 | 211/502 | chr16 | TogoVar |