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 | 401878 | G | GACCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02074.hp2 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0034 a0001c0001t0001g0055 others(2): Show |
5 | 186 | 0.0269 | 9 | c.*40 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3837 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401878 | G | GGCCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00735.hp1 others(33): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0005a0005c0009others(2): Show | a0001c0001t0001a0003c0005t0001a0005c0009t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(29): Show |
36 | 217 | 0.1659 | 9 | c.*40 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3837 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401948 | G | GGCCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0026 others(5): Show |
8 | 205 | 0.0390 | 9 | c.*39 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3767 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401951 | C | CCCGCTCA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01928.hp1 HG02148.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0057 a0001c0001t0001g0068 a0001c0001t0001g0079 others(2): Show |
5 | 207 | 0.0242 | 9 | c.*39 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3764 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401971 | G | GGCCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG03209.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0110 |
3 | 228 | 0.0132 | 9 | c.*39 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3744 | chr11 | TogoVar | |||||||
SIGLEC10_chr19_51405020_51422642 | 51420331 | G | GAGCATTG others(2): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03098.hp1 others(2): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0018 | a0002c0002t0004a0003c0003t0005a0009c0018t0004 | a0002c0002t0004g0105 a0003c0003t0005g0003 a0009c0018t0004g0128 others(1): Show |
5 | 418 | 0.0120 | 9 | c.-27 others(20): Show |
SIGLEC10 | ENSG00000142512.15 | transcript | ENST00000339313.10 | protein_coding | 2690 | chr19 | TogoVar | |||||||
SIGLEC11_chr19_49943985_49966172 | 49965598 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(41): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0002a0007c0043others(6): Show | a0001c0001t0001a0002c0002t0001a0007c0043t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0088 others(13): Show |
44 | 229 | 0.1921 | 9 | c.-45 others(20): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 4427 | chr19 | TogoVar | |||||||
SIGLEC6_chr19_51512819_51536670 | 51529001 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0016 | a0001c0001t0005g0062 a0001c0001t0005g0118 a0001c0001t0007g0021 others(2): Show |
8 | 140 | 0.0571 | 9 | c.101 others(26): Show |
SIGLEC6 | ENSG00000105492.16 | transcript | ENST00000425629.8 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116842618 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG02615.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011 | a0001c0002t0004g0045 a0001c0002t0004g0046 a0001c0002t0004g0054 others(3): Show |
6 | 136 | 0.0441 | 9 | c.*30 others(20): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 783 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116860745 | A | ACCCAAAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(89): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0026a0002c0004others(5): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0011others(12): Show | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0003 others(89): Show |
92 | 364 | 0.2527 | 9 | c.242 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 19/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 116967003 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01258.hp2 others(15): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0004a0002c0004t0005others(2): Show | a0001c0001t0001g0187 a0001c0002t0004g0048 a0002c0004t0005g0040 others(15): Show |
18 | 289 | 0.0623 | 9 | c.274 others(26): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117013972 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG02109.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0026a0002c0004others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0023others(5): Show | a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0011 others(17): Show |
20 | 90 | 0.2222 | 9 | c.274 others(28): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139057314 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01993.hp1 NA18960.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0088 a0001c0001t0001g0133 |
3 | 102 | 0.0294 | 9 | c.245 others(26): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71491520 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0052 a0001c0001t0002g0053 a0001c0004t0002g0049 others(2): Show |
5 | 115 | 0.0435 | 9 | c.-46 others(30): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L2_chr1_232392965_232635133 | 232455714 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03209.hp1 HG03453.hp2 others(5): Show |
a0001a0002 | a0001c0005a0002c0007a0002c0008others(2): Show | a0001c0005t0022a0002c0007t0003a0002c0008t0003others(5): Show | a0001c0005t0022g0288 a0002c0007t0003g0265 a0002c0008t0003g0278 others(5): Show |
8 | 149 | 0.0537 | 9 | c.309 others(28): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232501050 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(53): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(34): Show | a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0211 others(53): Show |
56 | 109 | 0.5138 | 9 | c.148 others(28): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232608047 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01256.hp2 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0026others(9): Show | a0001c0001t0002a0001c0001t0004a0001c0005t0002others(13): Show | a0001c0001t0002g0022 a0001c0001t0004g0095 a0001c0005t0002g0025 others(13): Show |
16 | 77 | 0.2078 | 9 | c.-31 others(30): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37937741 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0003a0001c0006t0009others(4): Show | a0001c0001t0001g0134 a0001c0004t0003g0070 a0001c0006t0009g0140 others(4): Show |
7 | 50 | 0.1400 | 9 | c.-37 others(30): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37962463 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01168.hp2 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0134 others(24): Show |
27 | 63 | 0.4286 | 9 | c.-37 others(30): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37976104 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01169.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0097 a0001c0001t0001g0107 others(42): Show |
45 | 143 | 0.3147 | 9 | c.-37 others(30): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38000900 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02922.hp2 HG03098.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0032others(1): Show | a0001c0001t0024a0001c0003t0005a0001c0032t0003others(1): Show | a0001c0001t0024g0077 a0001c0003t0005g0073 a0001c0032t0003g0023 others(1): Show |
4 | 158 | 0.0253 | 9 | c.-37 others(30): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38000925 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00642.hp1 others(50): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0003a0001c0026others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(50): Show |
53 | 162 | 0.3272 | 9 | c.-37 others(30): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38182136 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG01109.hp2 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0164 a0001c0001t0002g0039 others(47): Show |
50 | 94 | 0.5319 | 9 | c.420 others(26): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRPB2_chr20_1469578_1496420 | 1483270 | C | CTAATGTT others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02717.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0008a0004c0004t0004 | a0001c0001t0008g0061 a0001c0001t0008g0062 a0001c0001t0008g0063 others(1): Show |
4 | 370 | 0.0108 | 9 | c.86- others(24): Show |
SIRPB2 | ENSG00000196209.13 | transcript | ENST00000359801.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
SIRPB2_chr20_1469578_1496420 | 1486077 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(110): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(33): Show |
113 | 361 | 0.3130 | 9 | c.85+ others(24): Show |
SIRPB2 | ENSG00000196209.13 | transcript | ENST00000359801.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21150909 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0124 others(9): Show |
14 | 45 | 0.3111 | 9 | c.*42 others(20): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 2685 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48204973 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01433.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0001a0001c0005t0001a0002c0004t0001 | a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0042 others(7): Show |
10 | 166 | 0.0602 | 9 | c.281 others(28): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48224068 | A | AAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0057 others(4): Show |
7 | 148 | 0.0473 | 9 | c.281 others(28): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 NA18941.hp2 NA18942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019 | a0001c0001t0001g0123 a0001c0001t0001g0150 a0001c0001t0001g0151 others(5): Show |
8 | 32 | 0.2500 | 9 | c.796 others(26): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26833397 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01884.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0245 a0001c0001t0002g0256 a0001c0001t0002g0259 others(5): Show |
8 | 243 | 0.0329 | 9 | c.307 others(28): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26857310 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01361.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0035 a0001c0001t0002g0235 a0001c0001t0006g0234 others(3): Show |
6 | 15 | 0.4000 | 9 | c.68- others(24): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170387759 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(119): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0005 a0001c0001t0001g0033 a0001c0001t0001g0120 others(115): Show |
122 | 189 | 0.6455 | 9 | c.143 others(28): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKOR1_chr15_67820509_67839582 | 67831903 | C | CCGGGGGG others(2): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0015 a0001c0001t0006g0050 |
4 | 361 | 0.0111 | 9 | c.258 others(26): Show |
SKOR1 | ENSG00000188779.12 | transcript | ENST00000380035.3 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
SKOR2_chr18_47201169_47256660 | 47234864 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0054 a0001c0001t0002g0239 a0001c0001t0002g0252 others(7): Show |
11 | 194 | 0.0567 | 9 | c.275 others(28): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
SKOR2_chr18_47201169_47256660 | 47245478 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(72): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0008others(6): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0003g0233 a0002c0002t0001g0114 a0002c0002t0001g0115 others(49): Show |
75 | 171 | 0.4386 | 9 | c.267 others(24): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
SKP2_chr5_36147111_36189319 | 36151866 | C | CAGCGGCT others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0019 | a0001c0001t0006g0063 a0001c0001t0007g0059 a0001c0001t0007g0062 others(1): Show |
4 | 400 | 0.0100 | 9 | c.-39 others(18): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 244 | chr5 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48395810 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02630.hp2 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0023a0001c0001t0027others(2): Show | a0001c0001t0003g0180 a0001c0001t0003g0198 a0001c0001t0003g0210 others(4): Show |
7 | 43 | 0.1628 | 9 | c.136 others(30): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF6_chr1_160480036_160528255 | 160484244 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01891.hp2 HG02083.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0054 others(5): Show |
8 | 345 | 0.0232 | 9 | c.*24 others(20): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 791 | chr1 | TogoVar | |||||||
SLC10A3_chrX_154482311_154495629 | 154493949 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00733.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0002g0006 others(1): Show |
41 | 142 | 0.2887 | 9 | c.-37 others(20): Show |
SLC10A3 | ENSG00000126903.16 | transcript | ENST00000651600.1 | protein_coding | 3321 | chrX | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86835761 | G | GAGAGAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02559.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0003a0004c0003t0003 | a0001c0001t0003g0037 a0001c0001t0003g0258 a0001c0001t0003g0259 others(5): Show |
10 | 348 | 0.0287 | 9 | c.378 others(26): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146418002 | A | AGATGATG others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01106.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0144 others(9): Show |
12 | 73 | 0.1644 | 9 | c.435 others(28): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146495766 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03516.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0044 a0001c0001t0005g0071 a0001c0001t0006g0085 |
3 | 44 | 0.0682 | 9 | c.396 others(26): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SLC11A1_chr2_218377273_218401894 | 218381490 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00735.hp2 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0018 others(59): Show |
91 | 100 | 0.9100 | 9 | c.-87 others(18): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 782 | chr2 | TogoVar | |||||||
SLC11A1_chr2_218377273_218401894 | 218389104 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0030a0001c0002t0003 | a0001c0001t0016g0105 a0001c0001t0016g0106 a0001c0001t0030g0083 others(3): Show |
6 | 259 | 0.0232 | 9 | c.796 others(24): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48271523 | T | TATTGAGC others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(150): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(149): Show |
153 | 263 | 0.5817 | 9 | c.240 others(28): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48289429 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp1 HG01243.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0102 others(25): Show |
28 | 197 | 0.1421 | 9 | c.287 others(26): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | chr15 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48301502 | T | TGCGGGGG others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG02132.hp1 others(16): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0241 a0001c0001t0002g0053 a0001c0001t0002g0059 others(16): Show |
19 | 177 | 0.1073 | 9 | c.316 others(26): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48302626 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01993.hp2 HG02004.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0055 a0001c0001t0001g0117 others(12): Show |
15 | 86 | 0.1744 | 9 | c.316 others(26): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128126966 | A | ATATAATT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02135.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0020others(2): Show | a0001c0002t0001g0081 a0001c0002t0001g0158 a0001c0002t0004g0048 others(6): Show |
9 | 82 | 0.1098 | 9 | c.104 others(28): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC13A3_chr20_46552828_46656459 | 46555387 | C | CACACACA others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01109.hp2 HG02129.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0004a0001c0004t0001others(1): Show | a0001c0001t0001g0252 a0001c0001t0001g0375 a0001c0003t0004g0325 others(2): Show |
5 | 378 | 0.0132 | 9 | c.*46 others(20): Show |
SLC13A3 | ENSG00000158296.14 | transcript | ENST00000279027.9 | protein_coding | 2440 | chr20 | TogoVar |