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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIPA1L3_chr19_37902208_38213369 | 37941087 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG01496.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0004 | a0001c0001t0006g0052 a0001c0003t0004g0049 |
2 | 164 | 0.0122 | -6 | c.-37 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37950076 | CAAAAAA | C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0032 | a0001c0001t0019a0001c0001t0024a0001c0004t0003others(1): Show | a0001c0001t0019g0022 a0001c0001t0024g0077 a0001c0004t0003g0032 others(2): Show |
5 | 164 | 0.0305 | -6 | c.-37 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38025358 | GGTCATC | G | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01891.hp2 others(19): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0001others(13): Show | a0001c0001t0002g0056 a0001c0001t0005g0096 a0001c0003t0001g0092 others(19): Show |
22 | 164 | 0.1342 | -6 | c.-37 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38033669 | ACGTATG | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01258.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(19): Show | a0001c0001t0001g0001 a0001c0001t0002g0039 a0001c0001t0002g0109 others(27): Show |
30 | 164 | 0.1829 | -6 | c.-31 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38033673 | ATGTGTG | A | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01169.hp1 others(14): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0005others(2): Show | a0001c0001t0002a0001c0001t0019a0001c0004t0003others(3): Show | a0001c0001t0002g0055 a0001c0001t0002g0079 a0001c0001t0002g0087 others(14): Show |
17 | 164 | 0.1037 | -6 | c.-31 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38077661 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01109.hp2 others(32): Show |
a0002a0014a0025 | a0002c0002a0002c0014a0002c0015others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 others(32): Show |
35 | 164 | 0.2134 | -6 | c.-31 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38078438 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp2 HG01515.hp2 HG01517.hp1 others(8): Show |
a0001a0006a0020others(1): Show | a0001c0003a0001c0030a0006c0010others(3): Show | a0001c0003t0001a0001c0003t0004a0001c0030t0001others(4): Show | a0001c0003t0001g0144 a0001c0003t0004g0026 a0001c0003t0004g0111 others(8): Show |
11 | 164 | 0.0671 | -6 | c.-31 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38118381 | CGCCACT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01109.hp2 others(30): Show |
a0002a0005a0014others(2): Show | a0002c0002a0005c0039a0014c0019others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0014 a0002c0002t0001g0058 a0002c0002t0001g0059 others(30): Show |
33 | 164 | 0.2012 | -6 | c.229 others(23): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38145134 | CTGTTGT | C | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG01109.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0004a0002c0002a0003c0005others(5): Show | a0001c0004t0003a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0004t0003g0032 a0001c0004t0003g0033 a0001c0004t0003g0100 others(38): Show |
41 | 164 | 0.2500 | -6 | c.353 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38178086 | GGTGTGT | G | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01258.hp1 others(19): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0032others(8): Show | a0001c0001t0005a0001c0001t0017a0001c0001t0024others(12): Show | a0001c0001t0005g0037 a0001c0001t0005g0071 a0001c0001t0017g0069 others(19): Show |
22 | 164 | 0.1342 | -6 | c.420 others(25): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1_chr11_65633101_65655912 | 65647834 | CTCTCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(125): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0009others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0099 a0001c0001t0004g0011 others(32): Show |
128 | 406 | 0.3153 | -6 | c.230 others(23): Show |
SIPA1 | ENSG00000213445.10 | transcript | ENST00000534313.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1895283 | CGCGGCG | C | upstream_gene_variant | MODIFIER | NA18942.hp1 NA18952.hp2 NA18993.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0204 a0002c0002t0002g0228 a0002c0002t0002g0236 others(1): Show |
4 | 418 | 0.0096 | -6 | c.-16 others(15): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 123 | chr20 | TogoVar | |||||||
SIRPA_chr20_1890407_1945592 | 1901128 | ATTTTTG | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0002g0293 a0001c0001t0003g0271 a0002c0002t0001g0076 others(35): Show |
38 | 418 | 0.0909 | -6 | c.79+ others(21): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1937980 | TCCACCA | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03486.hp1 NA19043.hp1 |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0007 | a0001c0001t0019a0003c0003t0019a0010c0007t0019 | a0001c0001t0019g0185 a0003c0003t0019g0384 a0010c0007t0019g0122 |
3 | 418 | 0.0072 | -6 | c.*43 others(15): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 8/8 | 438 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SIRT1_chr10_67879656_67923390 | 67901980 | ATTTGTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(252): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(25): Show | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0027 others(228): Show |
255 | 410 | 0.6220 | -6 | c.943 others(23): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67914059 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01099.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0085 a0001c0001t0003g0017 a0001c0001t0003g0019 others(29): Show |
33 | 410 | 0.0805 | -6 | c.191 others(25): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT4_chr12_120297321_120318249 | 120304835 | ATTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(57): Show |
a0000a0001a0005 | a0000c0006a0001c0001a0005c0010 | a0000c0006t0003a0001c0001t0001a0005c0010t0001 | a0000c0006t0003g0067 a0001c0001t0001g0002 a0001c0001t0001g0005 others(28): Show |
60 | 380 | 0.1579 | -6 | c.497 others(21): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT4_chr12_120297321_120318249 | 120305242 | CGTGTGT | C | intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG01070.hp2 others(30): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0005 | a0001c0002t0001a0001c0008t0001a0003c0005t0001 | a0001c0002t0001g0016 a0001c0002t0001g0046 a0001c0002t0001g0047 others(26): Show |
33 | 380 | 0.0868 | -6 | c.497 others(23): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT5_chr6_13569601_13620158 | 13611236 | TACACAC | T | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0027a0001c0001t0028others(3): Show | a0001c0001t0010g0134 a0001c0001t0027g0109 a0001c0001t0028g0101 others(3): Show |
6 | 394 | 0.0152 | -6 | c.858 others(21): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIT1_chr9_35644295_35655931 | 35654316 | GTCTCTC | G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01261.hp2 HG01993.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(2): Show |
39 | 434 | 0.0899 | -6 | c.-34 others(17): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 3386 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35654329 | TCTCTCA | T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02165.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
12 | 434 | 0.0277 | -6 | c.-34 others(17): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 3399 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35654331 | TCTCACA | T | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01175.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 434 | 0.0161 | -6 | c.-34 others(17): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 3401 | chr9 | TogoVar | |||||||
SIVA1_chr14_104748147_104764654 | 104756481 | GTGGGGA | G | intron_variant | MODIFIER | HG02056.hp2 HG02165.hp1 NA18954.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 8 | 418 | 0.0191 | -6 | c.314 others(21): Show |
SIVA1 | ENSG00000184990.13 | transcript | ENST00000329967.11 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIX1_chr14_60638421_60654477 | 60650584 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02040.hp1 HG02055.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0016g0004 others(1): Show |
4 | 392 | 0.0102 | -6 | c.-14 others(17): Show |
SIX1 | ENSG00000126778.12 | transcript | ENST00000645694.3 | protein_coding | 1108 | chr14 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44941807 | TCTCTCC | T | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00733.hp1 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0006a0001c0001t0029a0001c0001t0034others(14): Show | a0001c0001t0006g0004 a0001c0001t0029g0004 a0001c0001t0034g0004 others(14): Show |
37 | 448 | 0.0826 | -6 | c.-28 others(15): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 1/2 | 275 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SIX3_chr2_44936702_44951071 | 44945310 | TAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG02155.hp1 NA18522.hp1 NA18947.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0025a0001c0001t0056others(1): Show | a0001c0001t0024g0003 a0001c0001t0025g0003 a0001c0001t0056g0003 others(1): Show |
10 | 448 | 0.0223 | -6 | c.*57 others(15): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 2/2 | 571 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SIX3_chr2_44936702_44951071 | 44947064 | GCAGCAC | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(202): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0013 others(42): Show |
205 | 448 | 0.4576 | -6 | c.*23 others(17): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 994 | chr2 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950153 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01978.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0001 others(11): Show |
17 | 448 | 0.0380 | -6 | c.*53 others(17): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4083 | chr2 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950863 | GCACGCA | G | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0005g0003 others(5): Show |
10 | 448 | 0.0223 | -6 | c.*61 others(17): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4793 | chr2 | TogoVar | |||||||
SIX5_chr19_45759785_45774252 | 45761789 | ATCCAGC | A | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02523.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 414 | 0.0073 | -6 | c.*37 others(17): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 2995 | chr19 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165073170 | TTCTCTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02622.hp2 others(2): Show |
a0003a0005a0021 | a0003c0003a0005c0005a0021c0017 | a0003c0003t0001a0005c0005t0001a0021c0017t0001 | a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 others(2): Show |
5 | 266 | 0.0188 | -6 | c.255 others(23): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 3/47 | chr3 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50378674 | CAAAAAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02647.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(6): Show | a0001c0001t0001g0017 a0001c0001t0001g0103 a0001c0001t0001g0125 others(12): Show |
20 | 387 | 0.0517 | -6 | c.89- others(21): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SKA1_chr18_50370046_50399168 | 50395371 | TTCTTTG | T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0016 a0001c0001t0013g0031 a0001c0001t0013g0052 |
4 | 387 | 0.0103 | -6 | c.*31 others(17): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 1204 | chr18 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21160605 | AAACAGG | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 a0001c0001t0003g0093 a0001c0001t0003g0094 others(2): Show |
7 | 378 | 0.0185 | -6 | c.830 others(21): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48205009 | CTTTCTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG03098.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0134 others(6): Show |
9 | 292 | 0.0308 | -6 | c.281 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48250272 | GTTTTTT | G | intron_variant | MODIFIER | HG02027.hp2 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0047 others(3): Show |
6 | 292 | 0.0206 | -6 | c.281 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48252713 | AGTGTGT | A | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02258.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0048 others(8): Show |
11 | 292 | 0.0377 | -6 | c.281 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48252750 | GTGTGTA | G | intron_variant | MODIFIER | NA18945.hp2 NA18947.hp2 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0256 others(3): Show |
6 | 292 | 0.0206 | -6 | c.281 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48321347 | CATTATT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02258.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0003 | a0001c0001t0001g0101 a0001c0001t0001g0117 a0001c0001t0001g0119 others(19): Show |
22 | 292 | 0.0753 | -6 | c.280 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48365113 | TTTTTTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0134 a0002c0002t0001g0236 a0002c0002t0001g0239 |
3 | 292 | 0.0103 | -6 | c.153 others(23): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26749745 | CAATAAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG00735.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0058 others(54): Show |
58 | 296 | 0.1960 | -6 | c.308 others(23): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26749780 | ATAATAG | A | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(6): Show |
10 | 296 | 0.0338 | -6 | c.308 others(23): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26775530 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(148): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(145): Show |
151 | 296 | 0.5101 | -6 | c.308 others(25): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26800522 | ATGAAAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00642.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0002g0003 a0001c0001t0002g0207 a0001c0001t0002g0208 others(53): Show |
57 | 296 | 0.1926 | -6 | c.307 others(25): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKIC2_chr6_31954175_31974751 | 31954568 | CTCTCGG | C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02486.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0003 a0003c0003t0001g0061 |
11 | 453 | 0.0243 | -6 | c.-46 others(17): Show |
SKIC2 | ENSG00000204351.13 | transcript | ENST00000375394.7 | protein_coding | 4606 | chr6 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95479675 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00597.hp1 others(84): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0015a0002c0002others(5): Show | a0001c0001t0004a0001c0015t0012a0002c0002t0002others(8): Show | a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 others(77): Show |
87 | 352 | 0.2472 | -6 | c.421 others(25): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 39/42 | chr5 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21508522 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp2 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0044 others(31): Show |
36 | 230 | 0.1565 | -6 | c.*65 others(17): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 4952 | chr10 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21510753 | GTTTTTT | G | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02083.hp2 HG02451.hp2 others(9): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0003c0005others(1): Show | a0001c0001t0004a0001c0001t0017a0001c0001t0040others(5): Show | a0001c0001t0004g0135 a0001c0001t0017g0125 a0001c0001t0017g0197 others(8): Show |
12 | 230 | 0.0522 | -6 | c.*43 others(17): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 2721 | chr10 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21522266 | ACCCCCC | A | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG00738.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0010 a0001c0001t0001g0081 a0001c0001t0001g0126 others(20): Show |
24 | 230 | 0.1044 | -6 | c.-19 others(25): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 2/3 | chr10 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170364311 | CTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp1 HG02895.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0179 a0001c0001t0001g0198 others(13): Show |
16 | 362 | 0.0442 | -6 | c.109 others(25): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |