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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALLC_chr2_3653200_3707671 | 3690402 | C | CCCCCTCC others(3): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0016 | 2 | 246 | 0.0081 | 10 | c.512 others(27): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704585 | A | AGGGGCGT others(3): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG01358.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0002g0029 others(1): Show |
4 | 65 | 0.0615 | 10 | c.*20 others(21): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1915 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3704592 | T | TGGGGGGC others(3): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02083.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0066 a0002c0002t0001g0202 |
2 | 272 | 0.0074 | 10 | c.*20 others(21): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1922 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3704606 | G | GGCGTGGG others(3): Show |
downstream_gene_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0175 | 1 | 272 | 0.0037 | 10 | c.*20 others(21): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1936 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73391294 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01361.hp1 HG01884.hp2 others(15): Show |
a0001a0004a0005others(1): Show | a0001c0003a0001c0012a0001c0019others(7): Show | a0001c0003t0002a0001c0012t0001a0001c0019t0002others(7): Show | a0001c0003t0002g0091 a0001c0012t0001g0209 a0001c0019t0002g0090 others(15): Show |
18 | 132 | 0.1364 | 10 | c.324 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73394992 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0055 | a0001c0055t0001 | a0001c0055t0001g0194 | 1 | 192 | 0.0052 | 10 | c.324 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73395038 | G | GTGTATAT others(3): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01361.hp1 HG02055.hp1 others(19): Show |
a0001a0004a0008others(1): Show | a0001c0012a0001c0020a0001c0022others(8): Show | a0001c0012t0001a0001c0020t0001a0001c0022t0001others(8): Show | a0001c0012t0001g0202 a0001c0012t0001g0203 a0001c0012t0001g0204 others(19): Show |
22 | 246 | 0.0894 | 10 | c.324 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73396303 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0028 | 1 | 187 | 0.0053 | 10 | c.324 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02486.hp2 HG02622.hp1 others(6): Show |
a0001a0004 | a0001c0004a0001c0022a0001c0023others(4): Show | a0001c0004t0001a0001c0022t0001a0001c0023t0001others(4): Show | a0001c0004t0001g0005 a0001c0004t0001g0053 a0001c0022t0001g0201 others(6): Show |
9 | 99 | 0.0909 | 10 | c.325 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02622.hp1 others(6): Show |
a0001a0008 | a0001c0013a0001c0026a0001c0038others(3): Show | a0001c0013t0001a0001c0026t0001a0001c0038t0001others(3): Show | a0001c0013t0001g0240 a0001c0013t0001g0241 a0001c0013t0001g0245 others(6): Show |
9 | 50 | 0.1800 | 10 | c.767 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73474403 | G | GTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033 a0001c0004t0001g0239 |
2 | 186 | 0.0108 | 10 | c.767 others(31): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73474411 | C | CTGTGTCT others(3): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02451.hp2 HG03654.hp1 |
a0002a0018 | a0002c0001a0018c0033 | a0002c0001t0001a0018c0033t0001 | a0002c0001t0001g0135 a0002c0001t0001g0144 a0018c0033t0001g0238 |
3 | 48 | 0.0625 | 10 | c.767 others(31): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515768 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02895.hp1 others(3): Show |
a0001a0004a0007others(1): Show | a0001c0012a0004c0008a0007c0009others(1): Show | a0001c0012t0001a0004c0008t0001a0007c0009t0001others(1): Show | a0001c0012t0001g0203 a0004c0008t0001g0234 a0007c0009t0001g0174 others(3): Show |
6 | 59 | 0.1017 | 10 | c.954 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG02071.hp2 others(21): Show |
a0001a0003a0007others(3): Show | a0001c0012a0001c0023a0003c0002others(4): Show | a0001c0012t0001a0001c0023t0001a0003c0002t0001others(4): Show | a0001c0012t0001g0202 a0001c0012t0001g0204 a0001c0012t0001g0209 others(21): Show |
24 | 119 | 0.2017 | 10 | c.115 others(31): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02071.hp2 HG02257.hp2 others(6): Show |
a0001a0003a0007 | a0001c0020a0001c0040a0003c0002others(2): Show | a0001c0020t0001a0001c0040t0001a0003c0002t0001others(2): Show | a0001c0020t0001g0208 a0001c0040t0001g0207 a0003c0002t0001g0013 others(6): Show |
9 | 126 | 0.0714 | 10 | c.115 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8087247 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02258.hp1 NA18966.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0001g0263 a0001c0001t0001g0264 others(3): Show |
8 | 451 | 0.0177 | 10 | c.147 others(23): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG others(3): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG03710.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 a0002c0002t0001g0035 a0002c0002t0001g0064 others(1): Show |
7 | 37 | 0.1892 | 10 | c.141 others(25): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 7011459 | C | CTTTCTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 402 | 0.0025 | 10 | c.*10 others(21): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 706 | chr17 | TogoVar | |||||||
ALOX12_chr17_6991049_7015754 | 7011464 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01257.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0112 others(10): Show |
23 | 268 | 0.0858 | 10 | c.*10 others(21): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 711 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8040601 | G | GAAAGAAA others(3): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 184 | 0.0054 | 10 | c.449 others(25): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040653 | A | AAGAAAGA others(3): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0196 | 1 | 468 | 0.0021 | 10 | c.449 others(25): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8049283 | T | TAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0023 | a0023c0053 | a0023c0053t0004 | a0023c0053t0004g0217 | 1 | 69 | 0.0145 | 10 | c.*71 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 150 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8049283 | T | TAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(46): Show |
a0001a0006a0012others(3): Show | a0001c0005a0001c0010a0001c0047others(7): Show | a0001c0005t0004a0001c0005t0008a0001c0005t0014others(11): Show | a0001c0005t0004g0001 a0001c0005t0004g0082 a0001c0005t0004g0083 others(17): Show |
49 | 117 | 0.4188 | 10 | c.*71 others(19): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 150 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01361.hp1 HG01891.hp2 others(16): Show |
a0001a0002a0004others(3): Show | a0001c0008a0001c0014a0002c0002others(5): Show | a0001c0008t0001a0001c0008t0002a0001c0008t0010others(8): Show | a0001c0008t0001g0111 a0001c0008t0001g0201 a0001c0008t0001g0204 others(14): Show |
19 | 44 | 0.4318 | 10 | c.*17 others(21): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | |||||||
ALOX15B_chr17_8034059_8054134 | 8053538 | C | CTAAGCAG others(3): Show |
downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0018 | 1 | 468 | 0.0021 | 10 | c.*49 others(21): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 4405 | chr17 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45409509 | G | GTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0116 |
2 | 105 | 0.0190 | 10 | c.432 others(27): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8094241 | G | GACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 HG03130.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0019 a0001c0002t0001g0256 a0001c0002t0001g0323 others(2): Show |
6 | 58 | 0.1034 | 10 | c.*23 others(21): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1658 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8094455 | G | GTTTTCTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 418 | 0.0024 | 10 | c.*21 others(21): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 1444 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8098006 | C | CAAAGTGC others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0177 | 1 | 420 | 0.0024 | 10 | c.195 others(29): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107965 | G | GAAAAGAG others(3): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 355 | 0.0028 | 10 | c.168 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107965 | G | GGAAGGAA others(3): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 355 | 0.0028 | 10 | c.168 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107998 | G | GAAGAGAG others(3): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 237 | 0.0042 | 10 | c.168 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPI_chr2_232451153_232465753 | 232465431 | T | TTTTTATT others(3): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp2 HG01071.hp1 others(42): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show |
45 | 219 | 0.2055 | 10 | c.*62 others(21): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4679 | chr2 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112300036 | A | AATAATTC others(3): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0291 | 1 | 304 | 0.0033 | 10 | c.-15 others(29): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112349551 | G | GCCCCCCC others(3): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 a0001c0001t0003g0208 |
2 | 80 | 0.0250 | 10 | c.-10 others(31): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112376841 | C | CTAAGAGA others(3): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0005 | a0001c0001t0001g0097 a0001c0011t0005g0049 |
2 | 304 | 0.0066 | 10 | c.-10 others(27): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112382289 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0016 | a0016c0036 | a0016c0036t0011 | a0016c0036t0011g0087 | 1 | 98 | 0.0102 | 10 | c.122 others(23): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112440812 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01257.hp1 others(7): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0017 | a0001c0001t0001a0003c0003t0005a0007c0017t0001 | a0001c0001t0001g0075 a0001c0001t0001g0117 a0001c0001t0001g0195 others(7): Show |
10 | 92 | 0.1087 | 10 | c.353 others(25): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58478629 | T | TATATACA others(3): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 HG02723.hp1 |
a0006a0009 | a0006c0043a0009c0007 | a0006c0043t0008a0009c0007t0008 | a0006c0043t0008g0159 a0009c0007t0008g0243 |
2 | 236 | 0.0085 | 10 | c.*31 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2617 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58478629 | T | TATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG03471.hp2 others(1): Show |
a0008a0013a0026 | a0008c0035a0013c0025a0026c0037 | a0008c0035t0008a0013c0025t0014a0026c0037t0014 | a0008c0035t0008g0149 a0013c0025t0014g0109 a0026c0037t0014g0106 others(1): Show |
4 | 238 | 0.0168 | 10 | c.*31 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2617 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58492146 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | NA19062.hp2 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 a0001c0002t0001g0241 |
2 | 164 | 0.0122 | 10 | c.629 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 12/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58502134 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18989.hp1 |
a0012a0028 | a0012c0010a0028c0076 | a0012c0010t0004a0028c0076t0010 | a0012c0010t0004g0264 a0028c0076t0010g0113 |
2 | 139 | 0.0144 | 10 | c.624 others(29): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(32): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0079a0002c0001others(9): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(16): Show | a0001c0002t0001g0126 a0001c0002t0001g0174 a0001c0002t0001g0185 others(32): Show |
35 | 59 | 0.5932 | 10 | c.196 others(31): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02280.hp1 HG02723.hp1 others(12): Show |
a0003a0004a0009others(5): Show | a0003c0004a0003c0019a0004c0003others(6): Show | a0003c0004t0011a0003c0019t0002a0003c0019t0005others(9): Show | a0003c0004t0011g0094 a0003c0019t0002g0051 a0003c0019t0005g0141 others(12): Show |
15 | 163 | 0.0920 | 10 | c.196 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629561 | T | TCACACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0015 | a0015c0017 | a0015c0017t0012 | a0015c0017t0012g0096 | 1 | 304 | 0.0033 | 10 | c.-81 others(19): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 471 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCACAC others(3): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG03540.hp2 NA18989.hp1 |
a0007a0011a0012 | a0007c0039a0011c0008a0012c0010 | a0007c0039t0008a0011c0008t0003a0012c0010t0004 | a0007c0039t0008g0120 a0011c0008t0003g0118 a0012c0010t0004g0264 |
3 | 15 | 0.2000 | 10 | c.-82 others(19): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCAC others(3): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 HG04228.hp1 |
a0021a0025 | a0021c0031a0025c0091 | a0021c0031t0001a0025c0091t0003 | a0021c0031t0001g0278 a0025c0091t0003g0134 |
2 | 14 | 0.1429 | 10 | c.-82 others(19): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58629563 | T | TCTCTCTC others(3): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 NA18963.hp2 NA18964.hp2 others(2): Show |
a0001a0002a0004others(2): Show | a0001c0002a0002c0001a0004c0012others(2): Show | a0001c0002t0004a0002c0001t0001a0004c0012t0001others(2): Show | a0001c0002t0004g0297 a0002c0001t0001g0179 a0004c0012t0001g0292 others(2): Show |
5 | 17 | 0.2941 | 10 | c.-82 others(19): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58630592 | T | TACACACA others(3): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02080.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0246 a0002c0001t0001g0245 |
2 | 214 | 0.0093 | 10 | c.-18 others(21): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1502 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84833957 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01081.hp1 others(18): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0002c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(7): Show | a0001c0001t0001g0127 a0001c0001t0001g0181 a0001c0001t0001g0186 others(15): Show |
21 | 102 | 0.2059 | 10 | c.305 others(27): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |