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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIGIRR_chr11_400716_419999 | 402336 | CACCCCCG | C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG03209.hp2 NA18966.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0110 a0001c0001t0001g0160 a0004c0007t0001g0107 |
3 | 240 | 0.0125 | -7 | c.*35 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3379 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402406 | CACCCCCG | C | downstream_gene_variant | MODIFIER | HG02129.hp1 HG02145.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0109 a0001c0001t0001g0124 others(2): Show |
5 | 240 | 0.0208 | -7 | c.*34 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3309 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402545 | CACCCCCG | C | downstream_gene_variant | MODIFIER | HG02970.hp1 HG03209.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show |
5 | 237 | 0.0211 | -7 | c.*33 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3170 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402599 | CACCCCCG | C | downstream_gene_variant | MODIFIER | HG02027.hp2 HG02622.hp2 NA19043.hp2 others(1): Show |
a0001a0004 | a0001c0003a0001c0006a0004c0007others(1): Show | a0001c0003t0001a0001c0006t0001a0004c0007t0001others(1): Show | a0001c0003t0001g0043 a0001c0006t0001g0189 a0004c0007t0001g0107 others(1): Show |
4 | 239 | 0.0167 | -7 | c.*32 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3116 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402652 | CACCCCCG | C | downstream_gene_variant | MODIFIER | HG02027.hp2 HG02622.hp2 HG02630.hp1 others(11): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0106 a0001c0001t0001g0108 others(9): Show |
14 | 240 | 0.0583 | -7 | c.*32 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3063 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402714 | CCCGCTCA | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG02056.hp2 others(6): Show |
a0001a0004 | a0001c0003a0001c0006a0004c0008 | a0001c0003t0001a0001c0006t0001a0004c0008t0001 | a0001c0003t0001g0042 a0001c0003t0001g0044 a0001c0003t0001g0045 others(6): Show |
9 | 240 | 0.0375 | -7 | c.*31 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3001 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 402782 | CACCCCCG | C | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0105 |
2 | 240 | 0.0083 | -7 | c.*31 others(18): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 2933 | chr11 | TogoVar | |||||||
SIGLEC12_chr19_51486227_51506800 | 51486712 | TTCTTTTC | T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG03209.hp2 |
a0003a0009 | a0003c0027a0009c0022 | a0003c0027t0001a0009c0022t0001 | a0003c0027t0001g0158 a0009c0022t0001g0104 a0009c0022t0001g0106 |
3 | 430 | 0.0070 | -7 | c.*49 others(18): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 4514 | chr19 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111692350 | CAAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0048others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0072 a0001c0001t0003g0183 others(2): Show |
5 | 11 | 0.4545 | -7 | c.478 others(24): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK2_chr11_111597449_111735855 | 111716579 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02818.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 |
3 | 196 | 0.0153 | -7 | c.126 others(26): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 9/14 | chr11 | TogoVar | |||||||
SIK2_chr11_111597449_111735855 | 111717317 | CAAAAAAA | C | intron_variant | MODIFIER | HG01952.hp2 HG02723.hp2 HG02809.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0050a0001c0001t0051others(1): Show | a0001c0001t0004g0107 a0001c0001t0004g0147 a0001c0001t0004g0148 others(11): Show |
14 | 20 | 0.7000 | -7 | c.126 others(26): Show |
SIK2 | ENSG00000170145.5 | transcript | ENST00000304987.4 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIK3_chr11_116838402_117103428 | 116855083 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(74): Show |
a0001a0005a0008others(2): Show | a0001c0001a0005c0007a0008c0024others(2): Show | a0001c0001t0001a0001c0001t0017a0001c0001t0025others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 others(74): Show |
77 | 197 | 0.3909 | -7 | c.365 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 21/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 138949798 | CAAAAAAA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01243.hp2 others(33): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(33): Show |
36 | 142 | 0.2535 | -7 | c.102 others(26): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139169817 | TCCCTCTC | T | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02895.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0003a0002c0006t0001 | a0001c0001t0003g0001 a0002c0006t0001g0097 a0002c0006t0001g0103 |
3 | 198 | 0.0152 | -7 | c.-11 others(26): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100458016 | CTCTCTCT | C | intron_variant | MODIFIER | HG00423.hp1 HG01516.hp2 HG02293.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0026a0002c0002t0001 | a0001c0001t0026g0216 a0002c0002t0001g0214 a0002c0002t0001g0215 others(1): Show |
4 | 316 | 0.0127 | -7 | c.176 others(24): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
SIMC1_chr5_176233424_176350989 | 176242997 | ATTATTTT | A | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 NA18522.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 |
3 | 358 | 0.0084 | -7 | c.129 others(24): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176267733 | GTTTTTTT | G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01361.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0277 a0002c0002t0002g0301 a0002c0002t0002g0302 others(13): Show |
16 | 63 | 0.2540 | -7 | c.130 others(26): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIN3A_chr15_75364379_75456690 | 75377624 | CAAAAAAA | C | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0243 others(3): Show |
6 | 321 | 0.0187 | -7 | c.338 others(26): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 19/20 | chr15 | TogoVar | |||||||
SIN3A_chr15_75364379_75456690 | 75448175 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(130): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0033 others(129): Show |
133 | 303 | 0.4389 | -7 | c.-34 others(24): Show |
SIN3A | ENSG00000169375.17 | transcript | ENST00000394947.8 | protein_coding | 1/20 | chr15 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71387248 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0154 others(28): Show |
31 | 92 | 0.3370 | -7 | c.-46 others(28): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71446899 | TTTTTTTG | T | intron_variant | MODIFIER | HG01433.hp1 HG02647.hp2 HG03098.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0001a0001c0001t0002a0005c0018t0002 | a0001c0001t0001g0008 a0001c0001t0002g0005 a0001c0001t0002g0006 others(2): Show |
5 | 172 | 0.0291 | -7 | c.-46 others(28): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742372 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0146 a0001c0001t0002g0029 a0001c0001t0002g0036 others(2): Show |
5 | 172 | 0.0291 | -7 | c.*32 others(18): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1164 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232525401 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG01175.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0005a0002c0007others(8): Show | a0001c0003t0001a0001c0003t0007a0001c0003t0010others(13): Show | a0001c0003t0001g0172 a0001c0003t0001g0227 a0001c0003t0007g0005 others(22): Show |
25 | 73 | 0.3425 | -7 | c.-26 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564147 | TTCGTGTG | T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp1 others(60): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0016a0001c0018others(25): Show | a0001c0001t0001a0001c0001t0003a0001c0016t0002others(34): Show | a0001c0001t0001g0100 a0001c0001t0001g0138 a0001c0001t0001g0183 others(60): Show |
63 | 233 | 0.2704 | -7 | c.-27 others(28): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38057816 | TTTTTTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG01258.hp1 HG01515.hp2 others(7): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0017a0001c0003t0004a0001c0004t0003others(5): Show | a0001c0001t0017g0068 a0001c0003t0004g0026 a0001c0004t0003g0100 others(7): Show |
10 | 162 | 0.0617 | -7 | c.-31 others(28): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38150529 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01109.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0004a0002c0002a0003c0005others(5): Show | a0001c0004t0003a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0004t0003g0032 a0001c0004t0003g0033 a0001c0004t0003g0100 others(37): Show |
40 | 100 | 0.4000 | -7 | c.353 others(26): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67895741 | TTTTTTTG | T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0005g0019 others(3): Show |
7 | 408 | 0.0172 | -7 | c.942 others(24): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67901795 | CTAAGCAT | C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0005g0019 others(3): Show |
8 | 408 | 0.0196 | -7 | c.943 others(24): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67914059 | ATTTTTTT | A | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG01070.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(20): Show |
24 | 120 | 0.2000 | -7 | c.191 others(26): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SKA1_chr18_50370046_50399168 | 50378674 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(255): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(71): Show |
258 | 343 | 0.7522 | -7 | c.89- others(22): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SKA1_chr18_50370046_50399168 | 50379773 | CTTCATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(160): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(47): Show |
163 | 386 | 0.4223 | -7 | c.89- others(20): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SKAP1_chr17_48128442_48435214 | 48204978 | TTTCTTTC | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01169.hp1 others(20): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 others(20): Show |
23 | 278 | 0.0827 | -7 | c.281 others(26): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48250272 | GTTTTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0039 others(60): Show |
63 | 224 | 0.2813 | -7 | c.281 others(26): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48405438 | TTTCTTTC | T | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0186 |
3 | 288 | 0.0104 | -7 | c.47- others(22): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26740151 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(206): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(205): Show |
209 | 262 | 0.7977 | -7 | c.308 others(22): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21510753 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01081.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0019others(2): Show | a0001c0001t0010a0001c0001t0029a0001c0001t0057others(8): Show | a0001c0001t0010g0123 a0001c0001t0010g0128 a0001c0001t0010g0130 others(14): Show |
20 | 78 | 0.2564 | -7 | c.*43 others(18): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 2721 | chr10 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170364311 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(239): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(231): Show |
242 | 258 | 0.9380 | -7 | c.109 others(26): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170369082 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(217): Show |
228 | 300 | 0.7600 | -7 | c.109 others(26): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170401048 | GTGAACTC | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(296): Show |
308 | 360 | 0.8556 | -7 | c.*86 others(18): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 4214 | chr3 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2247315 | CGCCCTCA | C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01099.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0305 others(25): Show |
28 | 328 | 0.0854 | -7 | c.969 others(26): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLA2_chr20_36607318_36651196 | 36636274 | AGCCGGGC | A | intron_variant | MODIFIER | HG01261.hp1 HG02258.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0173 a0001c0001t0001g0197 others(3): Show |
6 | 358 | 0.0168 | -7 | c.92- others(22): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36636624 | ATATATAT | A | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0004 | a0001c0001t0006g0337 a0001c0001t0006g0338 a0002c0002t0004g0242 others(1): Show |
4 | 342 | 0.0117 | -7 | c.92- others(22): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 2/7 | chr20 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48400388 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01496.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0228 a0001c0001t0002g0237 a0001c0001t0002g0247 others(5): Show |
8 | 26 | 0.3077 | -7 | c.136 others(28): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48414550 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0220 others(149): Show |
159 | 300 | 0.5300 | -7 | c.136 others(26): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF1_chr1_160603106_160652044 | 160618069 | TCAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(144): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(135): Show |
147 | 418 | 0.3517 | -7 | c.864 others(24): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SLAMF1_chr1_160603106_160652044 | 160621558 | CAAAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG02129.hp2 HG02300.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0020a0002c0002t0006 | a0001c0001t0006g0055 a0001c0001t0006g0215 a0001c0001t0006g0217 others(4): Show |
7 | 15 | 0.4667 | -7 | c.791 others(24): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
SLAMF7_chr1_160734247_160759821 | 160735932 | CCTCCCCA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(64): Show |
204 | 438 | 0.4658 | -7 | c.-33 others(18): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 3314 | chr1 | TogoVar | |||||||
SLC10A2_chr13_103038998_103071417 | 103052354 | TCTCATAC | T | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0205 a0001c0001t0013g0207 others(3): Show |
6 | 426 | 0.0141 | -7 | c.585 others(22): Show |
SLC10A2 | ENSG00000125255.7 | transcript | ENST00000245312.5 | protein_coding | 3/5 | chr13 | TogoVar | |||||||
SLC10A4_chr4_48478343_48494526 | 48487788 | CTTTTTTT | C | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 7 | 139 | 0.0504 | -7 | c.802 others(22): Show |
SLC10A4 | ENSG00000145248.7 | transcript | ENST00000273861.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146324566 | GCACTTAC | G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0043 a0001c0001t0003g0079 a0001c0001t0004g0224 others(2): Show |
5 | 242 | 0.0207 | -7 | c.471 others(24): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 6/11 | chr4 | TogoVar |