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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8857432 | TCCCATAT others(4391): Show |
T | exon_loss_variant | HIGH | HG02572.hp1 | a0027 | a0027c0040 | a0027c0040t0005 | a0027c0040t0005g0216 | 1 | 366 | 0.0027 | -4398 | c.302 others(16): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A3GALT2_chr1_33301766_33326098 | 33319775 | CCAGGCTT others(2551): Show |
C | exon_loss_variant others(3): Show |
HIGH | HG00735.hp1 NA19007.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0056 a0004c0008t0001g0057 |
2 | 416 | 0.0048 | -2558 | c.-12 others(13): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48352125 | GTTTGAGC others(10142): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02055.hp1 HG02922.hp1 HG02965.hp1 |
a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 |
3 | 176 | 0.0170 | -10149 | c.103 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54604839 | GGCTGACA others(3212): Show |
G | exon_loss_variant | HIGH | HG02622.hp2 | a0010 | a0010c0018 | a0010c0018t0003 | a0010c0018t0003g0030 | 1 | 386 | 0.0026 | -3219 | c.123 others(13): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACSM5_chr16_20404534_20446336 | 20439798 | AGGTGGTA others(831): Show |
A | exon_loss_variant | HIGH | NA20805.hp1 | a0029 | a0029c0031 | a0029c0031t0017 | a0029c0031t0017g0316 | 1 | 432 | 0.0023 | -838 | c.153 others(11): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
ADAM2_chr8_39738735_39843227 | 39774918 | TACTCTAA others(11035): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02080.hp1 | a0010 | a0010c0019 | a0010c0019t0001 | a0010c0019t0001g0121 | 1 | 328 | 0.0030 | -11042 | c.891 others(18): Show |
ADAM2 | ENSG00000104755.16 | transcript | ENST00000265708.9 | protein_coding | 11/21 | chr8 | TogoVar | |||||||
ADGRE5_chr19_14376444_14413723 | 14400747 | GCGCCACT others(1636): Show |
G | exon_loss_variant | HIGH | HG01074.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0233 | 1 | 372 | 0.0027 | -1643 | c.898 others(16): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113431936 | TGAACTCC others(8731): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0014 | a0014c0054 | a0014c0054t0001 | a0014c0054t0001g0091 | 1 | 260 | 0.0038 | -8738 | c.379 others(17): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 3/8 | chr13 | TogoVar | |||||||
AFP_chr4_73431221_73461174 | 73447055 | CGGACACT others(1268): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp1 NA18955.hp2 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0076 a0005c0008t0002g0083 |
2 | 387 | 0.0052 | -1275 | c.844 others(16): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AGAP9_chr10_47496854_47528638 | 47515631 | ACTATGGC others(11078): Show |
A | exon_loss_variant | HIGH | HG01192.hp1 HG01884.hp2 HG03209.hp2 |
a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0105 a0004c0005t0005g0106 a0004c0005t0005g0107 |
3 | 204 | 0.0147 | -11085 | c.-31 others(14): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 4/8 | chr10 | TogoVar | |||||||
AKNAD1_chr1_108810901_108862094 | 108825266 | AAGATGAT others(4064): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00558.hp1 HG01070.hp1 HG01074.hp2 others(29): Show |
a0004a0025 | a0004c0004a0004c0008a0004c0036others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0008t0002others(3): Show | a0004c0004t0001g0020 a0004c0004t0001g0031 a0004c0004t0001g0034 others(23): Show |
32 | 396 | 0.0808 | -4071 | c.183 others(19): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 11/16 | chr1 | TogoVar | |||||||
ALDH6A1_chr14_74051847_74089453 | 74053659 | GGCCTCCC others(9771): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG02602.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0200 | 1 | 400 | 0.0025 | -9778 | c.150 others(15): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 12/12 | chr14 | TogoVar | |||||||
AMY1A_chr1_103650760_103669554 | 103658184 | TACACATT others(11363): Show |
T | exon_loss_variant | HIGH | HG03492.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0017 | 1 | 230 | 0.0043 | -11370 | c.513 others(13): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10101606 | AAGACCAG others(2278): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 a0001c0001t0003g0134 |
2 | 460 | 0.0043 | -2285 | c.-13 others(13): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
ANKRD30A_chr10_37120598_37237567 | 37166184 | ATGATCGT others(10475): Show |
A | exon_loss_variant | HIGH | HG03471.hp1 | a0026 | a0026c0016 | a0026c0016t0001 | a0026c0016t0001g0023 | 1 | 284 | 0.0035 | -10482 | c.206 others(17): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37170147 | GTTTTTTT others(11786): Show |
G | exon_loss_variant | HIGH | HG01981.hp1 HG02056.hp2 HG03098.hp1 others(15): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0005others(3): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0002others(3): Show | a0001c0001t0001g0206 a0003c0003t0001g0045 a0005c0005t0002g0003 others(14): Show |
18 | 124 | 0.1452 | -11793 | c.225 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37171003 | GTTAGCCA others(11786): Show |
G | exon_loss_variant | HIGH | NA19063.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0277 | 1 | 284 | 0.0035 | -11793 | c.225 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37171737 | CTTTTGTT others(11796): Show |
C | exon_loss_variant | HIGH | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 144 | 0.0069 | -11803 | c.225 others(19): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37177714 | GCGCATCA others(11794): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18983.hp2 | a0031 | a0031c0018 | a0031c0018t0001 | a0031c0018t0001g0095 | 1 | 198 | 0.0051 | -11801 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37181453 | GGAATGAA others(11735): Show |
G | exon_loss_variant | HIGH | HG02109.hp2 | a0016 | a0016c0031 | a0016c0031t0001 | a0016c0031t0001g0173 | 1 | 283 | 0.0035 | -11742 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14800232 | GCAAACAA others(10880): Show |
G | exon_loss_variant | HIGH | HG02647.hp1 HG03098.hp1 NA19240.hp2 |
a0011 | a0011c0013 | a0011c0013t0005 | a0011c0013t0005g0102 a0011c0013t0005g0106 a0011c0013t0005g0107 |
3 | 295 | 0.0102 | -10887 | c.213 others(19): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 23/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14803118 | ATTTCTTT others(10885): Show |
A | exon_loss_variant | HIGH | HG01928.hp1 | a0026 | a0026c0030 | a0026c0030t0001 | a0026c0030t0001g0116 | 1 | 19 | 0.0526 | -10892 | c.219 others(17): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD30B_chr18_14743172_14859667 | 14803765 | TGTGTTTA others(10880): Show |
T | exon_loss_variant | HIGH | HG03139.hp1 HG03927.hp1 NA18951.hp2 others(1): Show |
a0013a0037 | a0013c0023a0013c0047a0013c0048others(1): Show | a0013c0023t0001a0013c0047t0001a0013c0048t0001others(1): Show | a0013c0023t0001g0132 a0013c0047t0001g0253 a0013c0048t0001g0098 others(1): Show |
4 | 193 | 0.0207 | -10887 | c.228 others(17): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD36C_chr2_95844548_95996824 | 95894704 | ATCAACAA others(5608): Show |
A | exon_loss_variant | HIGH | NA19062.hp2 NA19076.hp1 |
a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0025 a0016c0023t0001g0061 |
2 | 294 | 0.0068 | -5615 | c.336 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 62/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95898205 | GCAAGCAT others(5609): Show |
G | exon_loss_variant | HIGH | HG01255.hp2 HG02572.hp1 HG03669.hp1 |
a0007 | a0007c0031a0007c0032a0007c0035 | a0007c0031t0001a0007c0032t0001a0007c0035t0001 | a0007c0031t0001g0237 a0007c0032t0001g0236 a0007c0035t0001g0193 |
3 | 285 | 0.0105 | -5616 | c.316 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95898748 | ATATGGGT others(5609): Show |
A | exon_loss_variant | HIGH | HG02074.hp1 HG02922.hp2 NA19005.hp1 others(1): Show |
a0004 | a0004c0015a0004c0055 | a0004c0015t0001a0004c0055t0001 | a0004c0015t0001g0124 a0004c0015t0001g0285 a0004c0015t0001g0286 others(1): Show |
4 | 194 | 0.0206 | -5616 | c.316 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 58/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95900838 | AAAGATCA others(5609): Show |
A | exon_loss_variant | HIGH | HG01943.hp1 HG01978.hp1 HG02132.hp2 others(2): Show |
a0004a0025 | a0004c0051a0004c0052a0004c0053others(2): Show | a0004c0051t0001a0004c0052t0001a0004c0053t0001others(2): Show | a0004c0051t0001g0154 a0004c0052t0001g0155 a0004c0053t0001g0148 others(2): Show |
5 | 296 | 0.0169 | -5616 | c.306 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 56/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95904116 | AGTGTGTG others(5609): Show |
A | exon_loss_variant | HIGH | NA18973.hp1 | a0005 | a0005c0045 | a0005c0045t0001 | a0005c0045t0001g0168 | 1 | 295 | 0.0034 | -5616 | c.285 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 52/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95907191 | GTCTTTCA others(1867): Show |
G | exon_loss_variant | HIGH | HG03491.hp1 HG03492.hp1 |
a0014 | a0014c0018 | a0014c0018t0002 | a0014c0018t0002g0232 a0014c0018t0002g0264 |
2 | 296 | 0.0068 | -1874 | c.285 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 48/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95918788 | GTTAGATA others(1872): Show |
G | exon_loss_variant | HIGH | HG00140.hp2 HG00544.hp1 HG00558.hp1 others(98): Show |
a0002a0007a0014others(3): Show | a0002c0004a0002c0005a0002c0007others(13): Show | a0002c0004t0001a0002c0005t0001a0002c0007t0001others(13): Show | a0002c0004t0001g0007 a0002c0004t0001g0020 a0002c0004t0001g0022 others(95): Show |
101 | 296 | 0.3412 | -1879 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95919022 | AAAGTCAA others(1867): Show |
A | exon_loss_variant | HIGH | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 296 | 0.0034 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95919176 | AGTGAAGT others(1867): Show |
A | exon_loss_variant | HIGH | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0269 | 1 | 296 | 0.0034 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95919311 | CTTCTACA others(1867): Show |
C | exon_loss_variant | HIGH | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 296 | 0.0034 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95919491 | CTATTTCT others(1867): Show |
C | exon_loss_variant | HIGH | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
a0001a0004 | a0001c0008a0001c0048a0004c0054 | a0001c0008t0001a0001c0048t0001a0004c0054t0001 | a0001c0008t0001g0002 a0001c0008t0001g0272 a0001c0008t0001g0274 others(5): Show |
10 | 295 | 0.0339 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | chr2 | TogoVar | |||||||
ANKRD36C_chr2_95844548_95996824 | 95957817 | ATCCAAAA others(1875): Show |
A | exon_loss_variant | HIGH | HG01192.hp2 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0147 | 1 | 296 | 0.0034 | -1882 | c.100 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 12/88 | chr2 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97147001 | TTAAACCA others(3856): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19056.hp2 | a0033 | a0033c0025 | a0033c0025t0001 | a0033c0025t0001g0123 | 1 | 210 | 0.0048 | -3863 | c.103 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 12/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97147002 | TAAACCAT others(3855): Show |
T | exon_loss_variant others(4): Show |
HIGH | NA19079.hp2 | a0035 | a0035c0040 | a0035c0040t0001 | a0035c0040t0001g0122 | 1 | 210 | 0.0048 | -3862 | c.103 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 12/76 | chr2 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97150885 | TCTTTCCC others(8897): Show |
T | exon_loss_variant | HIGH | NA19079.hp2 | a0035 | a0035c0040 | a0035c0040t0001 | a0035c0040t0001g0122 | 1 | 210 | 0.0048 | -8904 | c.110 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | chr2 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97150889 | TCCCCCTC others(8893): Show |
T | exon_loss_variant | HIGH | NA19056.hp2 | a0033 | a0033c0025 | a0033c0025t0001 | a0033c0025t0001g0123 | 1 | 210 | 0.0048 | -8900 | c.110 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 13/76 | chr2 | TogoVar | |||||||
ANKRD36_chr2_97108153_97269521 | 97152093 | AGTGATTC others(4367): Show |
A | exon_loss_variant | HIGH | HG01070.hp2 HG01361.hp2 HG03654.hp1 others(1): Show |
a0002a0027 | a0002c0002a0027c0023 | a0002c0002t0001a0027c0023t0001 | a0002c0002t0001g0141 a0002c0002t0001g0161 a0002c0002t0001g0162 others(1): Show |
4 | 210 | 0.0190 | -4374 | c.116 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 14/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97187500 | CGAAGCTG others(11237): Show |
C | exon_loss_variant | HIGH | HG00597.hp1 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0132 | 1 | 210 | 0.0048 | -11244 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97188507 | GGTGAGAG others(1883): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG00558.hp1 HG00639.hp1 others(44): Show |
a0002a0007a0013others(4): Show | a0002c0002a0007c0007a0007c0027others(5): Show | a0002c0002t0001a0007c0007t0001a0007c0007t0006others(6): Show | a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0133 others(44): Show |
47 | 209 | 0.2249 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97188626 | CTGTGTGC others(1883): Show |
C | exon_loss_variant | HIGH | NA19010.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0101 | 1 | 209 | 0.0048 | -1890 | c.214 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 33/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97204663 | ACTGTAGG others(1865): Show |
A | exon_loss_variant | HIGH | HG03927.hp2 | a0029 | a0029c0049 | a0029c0049t0003 | a0029c0049t0003g0043 | 1 | 210 | 0.0048 | -1872 | c.306 others(17): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 51/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0003a0005a0011others(5): Show | a0003c0003a0003c0030a0005c0005others(8): Show | a0003c0003t0001a0003c0030t0001a0005c0005t0003others(9): Show | a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0034 others(44): Show |
49 | 210 | 0.2333 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97208387 | GTTGTAAC others(29496): Show |
G | exon_loss_variant | HIGH | HG00558.hp2 NA18952.hp1 NA18961.hp2 others(5): Show |
a0006a0032 | a0006c0006a0032c0038 | a0006c0006t0001a0032c0038t0001 | a0006c0006t0001g0084 a0006c0006t0001g0086 a0006c0006t0001g0087 others(5): Show |
8 | 210 | 0.0381 | -29503 | c.326 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 55/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97245828 | TCAACTAA others(23686): Show |
T | exon_loss_variant | HIGH | HG02040.hp1 NA18965.hp2 NA19000.hp2 others(1): Show |
a0012 | a0012c0014 | a0012c0014t0005 | a0012c0014t0005g0021 a0012c0014t0005g0075 a0012c0014t0005g0089 others(1): Show |
4 | 210 | 0.0190 | -23693 | c.516 others(10): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 72/76 | 5751/6534 | chr2 | TogoVar | ||||||
ANKRD40CL_chr17_50756030_50772518 | 50766754 | GCAGAGTG others(368): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0008 | a0002c0002t0007g0023 a0002c0002t0007g0029 a0002c0002t0007g0030 others(2): Show |
9 | 454 | 0.0198 | -375 | c.-98 others(14): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22272095 | GTTAATAG others(9025): Show |
G | exon_loss_variant | HIGH | NA18939.hp2 | a0010 | a0010c0014 | a0010c0014t0042 | a0010c0014t0042g0097 | 1 | 362 | 0.0028 | -9032 | c.203 others(14): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ANO6_chr12_45211095_45437349 | 45377477 | ATAGAAGC others(4750): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0163 | 1 | 232 | 0.0043 | -4757 | c.110 others(18): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |