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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG6_chr1_63362627_63443553 | 63400267 | ACG | A | intron_variant | MODIFIER | HG01192.hp1 HG02622.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0012 | a0001c0003t0009g0192 a0001c0003t0009g0194 a0001c0003t0009g0195 others(1): Show |
4 | 388 | 0.0103 | -2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400281 | ACG | A | intron_variant | MODIFIER | HG01243.hp1 HG02165.hp1 HG06807.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0010 | a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0367 others(4): Show |
7 | 388 | 0.0180 | -2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400319 | ACG | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(116): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0002g0003 a0001c0001t0002g0013 a0001c0001t0002g0014 others(114): Show |
119 | 388 | 0.3067 | -2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400336 | CGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(119): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0078 a0001c0001t0002g0003 a0001c0001t0002g0013 others(117): Show |
122 | 388 | 0.3144 | -2 | c.168 others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63403094 | CAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(120): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(116): Show |
123 | 388 | 0.3170 | -2 | c.257 others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63415678 | GTA | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(122): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(118): Show |
125 | 388 | 0.3222 | -2 | c.903 others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63420860 | CAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG01168.hp2 others(26): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0178 a0001c0001t0003g0112 a0001c0001t0003g0113 others(26): Show |
29 | 388 | 0.0747 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422108 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(63): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0050 others(62): Show |
66 | 388 | 0.1701 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422154 | AAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(282): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0050 others(277): Show |
285 | 388 | 0.7345 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422167 | CTA | C | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011 | a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0011g0189 others(2): Show |
5 | 388 | 0.0129 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422197 | CTA | C | intron_variant | MODIFIER | HG03490.hp2 HG03688.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 a0001c0001t0001g0369 a0001c0001t0001g0374 |
3 | 388 | 0.0077 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63424774 | ATT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(130): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 others(126): Show |
133 | 388 | 0.3428 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63427167 | ATT | A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00733.hp1 others(70): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0331 a0001c0001t0003g0005 a0001c0001t0003g0012 others(70): Show |
73 | 388 | 0.1881 | -2 | c.105 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63430830 | CTG | C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0156 a0001c0004t0006g0198 a0001c0004t0006g0199 others(2): Show |
5 | 388 | 0.0129 | -2 | c.132 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63441436 | CTA | C | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0003t0014a0001c0004t0006 | a0001c0003t0009g0192 a0001c0003t0009g0193 a0001c0003t0009g0194 others(8): Show |
11 | 388 | 0.0284 | -2 | c.*44 others(13): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2884 | chr1 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78102951 | CAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01081.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0009t0001 | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0237 others(24): Show |
29 | 402 | 0.0721 | -2 | c.134 others(21): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 12/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78107198 | AAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(65): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0109 others(56): Show |
68 | 402 | 0.1692 | -2 | c.103 others(19): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78107839 | CAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01074.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0039 others(17): Show |
23 | 402 | 0.0572 | -2 | c.103 others(19): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78109217 | AAC | A | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02809.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0224 a0003c0004t0001g0226 a0003c0004t0001g0227 others(2): Show |
5 | 402 | 0.0124 | -2 | c.103 others(19): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 9/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78118615 | CAA | C | intron_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0182 others(8): Show |
12 | 402 | 0.0299 | -2 | c.546 others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 5/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78123315 | GAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 a0002c0002t0001g0193 a0002c0002t0001g0194 others(3): Show |
7 | 402 | 0.0174 | -2 | c.368 others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78129419 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(169): Show |
201 | 402 | 0.5000 | -2 | c.96- others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78132828 | CTT | C | intron_variant | MODIFIER | NA19030.hp2 NA19058.hp1 NA19062.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0003t0001g0036 others(1): Show |
4 | 402 | 0.0100 | -2 | c.96- others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78138351 | CAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(95): Show |
a0001a0007a0008 | a0001c0001a0001c0003a0007c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0007c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(81): Show |
98 | 402 | 0.2438 | -2 | c.95+ others(17): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78143317 | AAC | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp2 others(32): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0010 | a0001c0001t0001a0003c0004t0001a0008c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(25): Show |
35 | 402 | 0.0871 | -2 | c.-37 others(13): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111795068 | AAG | A | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp2 HG02486.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0007 | a0001c0001t0009a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0009g0285 a0001c0001t0011g0129 a0001c0001t0016g0127 others(5): Show |
8 | 314 | 0.0255 | -2 | c.173 others(21): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111804082 | AAG | A | intron_variant | MODIFIER | HG01952.hp1 HG02145.hp2 HG02486.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0005a0005c0007 | a0001c0001t0009a0001c0001t0011a0001c0001t0016others(2): Show | a0001c0001t0009g0285 a0001c0001t0011g0129 a0001c0001t0016g0127 others(5): Show |
8 | 314 | 0.0255 | -2 | c.173 others(21): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111804132 | CAA | C | intron_variant | MODIFIER | HG02735.hp1 HG02886.hp2 HG02897.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0001g0014 a0001c0001t0010g0289 a0001c0001t0015g0146 others(6): Show |
9 | 314 | 0.0287 | -2 | c.173 others(21): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111820920 | GCA | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(94): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0022others(6): Show | a0001c0001t0002g0158 a0001c0001t0002g0162 a0001c0001t0002g0187 others(90): Show |
97 | 314 | 0.3089 | -2 | c.160 others(23): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111827492 | CAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(99): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(5): Show | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0004 others(95): Show |
102 | 314 | 0.3248 | -2 | c.160 others(21): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111854263 | ATT | A | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG01192.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 others(7): Show |
10 | 314 | 0.0319 | -2 | c.702 others(17): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 6/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111869411 | TAC | T | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0031 | a0001c0001t0020g0107 a0001c0001t0020g0108 a0001c0001t0031g0109 |
3 | 314 | 0.0096 | -2 | c.271 others(17): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111869870 | GGT | G | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0003g0292 others(7): Show |
10 | 314 | 0.0319 | -2 | c.270 others(17): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52531150 | CAT | C | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01243.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0095 others(16): Show |
23 | 396 | 0.0581 | -2 | c.*34 others(13): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2886 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52531208 | GAT | G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02809.hp2 NA18983.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0129 a0001c0001t0001g0154 a0002c0002t0001g0021 |
3 | 396 | 0.0076 | -2 | c.*34 others(13): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2828 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52531212 | TAC | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00673.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(43): Show |
52 | 396 | 0.1313 | -2 | c.*33 others(13): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2824 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52535178 | GAA | G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(57): Show |
91 | 396 | 0.2298 | -2 | c.*13 others(17): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52535550 | CAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00558.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(54): Show |
86 | 396 | 0.2172 | -2 | c.*13 others(17): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52535944 | ATT | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00558.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(52): Show |
84 | 396 | 0.2121 | -2 | c.*13 others(19): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52540382 | GCC | G | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0094 a0001c0001t0001g0152 a0001c0003t0001g0159 |
3 | 396 | 0.0076 | -2 | c.245 others(17): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52550435 | GAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0030 others(41): Show |
56 | 396 | 0.1414 | -2 | c.191 others(19): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52556646 | CAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG03041.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0114 a0001c0001t0001g0128 others(6): Show |
10 | 396 | 0.0253 | -2 | c.190 others(19): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52562860 | CTG | C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02717.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 a0002c0002t0001g0022 |
4 | 396 | 0.0101 | -2 | c.190 others(19): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
ALKAL2_chr2_274558_293091 | 281357 | CAG | C | intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01358.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0037 others(1): Show |
9 | 416 | 0.0216 | -2 | c.454 others(19): Show |
ALKAL2 | ENSG00000189292.17 | transcript | ENST00000403610.9 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
ALKAL2_chr2_274558_293091 | 287448 | TAA | T | intron_variant | MODIFIER | HG01106.hp2 HG02055.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0082 a0001c0001t0001g0085 others(3): Show |
9 | 416 | 0.0216 | -2 | c.253 others(17): Show |
ALKAL2 | ENSG00000189292.17 | transcript | ENST00000403610.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77668345 | CTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(76): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0250 a0001c0001t0003g0001 a0001c0001t0003g0009 others(58): Show |
79 | 360 | 0.2194 | -2 | c.*54 others(13): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 4058 | chr14 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77668870 | GTT | G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0070 a0002c0002t0004g0074 a0002c0002t0004g0075 others(4): Show |
7 | 360 | 0.0194 | -2 | c.*49 others(13): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3533 | chr14 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77671403 | ACT | A | downstream_gene_variant | MODIFIER | HG02165.hp1 NA18954.hp1 NA18961.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0008 a0002c0002t0004g0069 a0002c0002t0004g0071 others(2): Show |
7 | 360 | 0.0194 | -2 | c.*24 others(13): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 1000 | chr14 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77678545 | CAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(69): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0138 a0001c0001t0003g0001 a0001c0001t0003g0009 others(50): Show |
72 | 360 | 0.2000 | -2 | c.546 others(19): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 4/5 | chr14 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77681067 | TTC | T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03710.hp2 others(12): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0006a0002c0003t0009a0003c0004t0006 | a0002c0003t0006g0010 a0002c0003t0006g0021 a0002c0003t0006g0051 others(9): Show |
15 | 360 | 0.0417 | -2 | c.456 others(19): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar |