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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIPA1L2_chr1_232392965_232635133 | 232541242 | TAACATTA others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 NA20300.hp2 |
a0001a0002 | a0001c0003a0002c0031a0002c0060 | a0001c0003t0010a0002c0031t0001a0002c0060t0003 | a0001c0003t0010g0277 a0002c0031t0001g0078 a0002c0060t0003g0275 |
3 | 292 | 0.0103 | -10 | c.-26 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232541247 | TTAACATA others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01884.hp1 others(3): Show |
a0001a0002a0021 | a0001c0001a0001c0005a0001c0017others(2): Show | a0001c0001t0003a0001c0005t0001a0001c0017t0005others(2): Show | a0001c0001t0003g0244 a0001c0005t0001g0082 a0001c0017t0005g0073 others(3): Show |
6 | 292 | 0.0206 | -10 | c.-26 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232563956 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0006a0002c0007others(2): Show | a0001c0002t0001a0002c0006t0001a0002c0007t0003others(2): Show | a0001c0002t0001g0164 a0001c0002t0001g0194 a0002c0006t0001g0202 others(3): Show |
6 | 292 | 0.0206 | -10 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564149 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(44): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(32): Show | a0001c0001t0003g0259 a0001c0002t0001g0104 a0001c0002t0001g0105 others(44): Show |
47 | 292 | 0.1610 | -10 | c.-27 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564234 | TCGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02886.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0006a0001c0003t0001a0001c0005t0001 | a0001c0001t0006g0008 a0001c0003t0001g0172 a0001c0005t0001g0086 |
3 | 292 | 0.0103 | -10 | c.-27 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564235 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01081.hp1 others(15): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0218 a0001c0001t0002g0049 a0001c0001t0004g0096 others(15): Show |
18 | 292 | 0.0616 | -10 | c.-27 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572694 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02055.hp1 others(23): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(16): Show | a0001c0001t0001g0087 a0001c0001t0010g0285 a0001c0002t0001g0084 others(23): Show |
26 | 292 | 0.0890 | -10 | c.-27 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572734 | CATACATA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00733.hp2 others(18): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0026a0002c0007others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(11): Show | a0001c0001t0001g0138 a0001c0001t0003g0252 a0001c0026t0001g0197 others(18): Show |
21 | 292 | 0.0719 | -10 | c.-27 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232605694 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0001t0001g0143 others(144): Show |
147 | 292 | 0.5034 | -10 | c.-31 others(31): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232631595 | TGAGCACT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01175.hp1 others(1): Show |
a0003a0005a0007others(1): Show | a0003c0013a0005c0058a0007c0029others(1): Show | a0003c0013t0002a0005c0058t0002a0007c0029t0002others(1): Show | a0003c0013t0002g0037 a0005c0058t0002g0039 a0007c0029t0002g0038 others(1): Show |
4 | 292 | 0.0137 | -10 | c.-20 others(21): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1463 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37941077 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0004t0013others(2): Show | a0001c0001t0002g0087 a0001c0001t0004g0104 a0001c0004t0013g0089 others(3): Show |
6 | 164 | 0.0366 | -10 | c.-37 others(31): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38008944 | GCATGCCT others(3): Show |
G | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 164 | 0.0061 | -10 | c.-37 others(31): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38111964 | TACATGCA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00642.hp1 others(56): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0004a0001c0032others(10): Show | a0001c0001t0002a0001c0001t0019a0001c0004t0003others(17): Show | a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0056 others(56): Show |
59 | 164 | 0.3598 | -10 | c.229 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38123263 | TGTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0138 | 1 | 164 | 0.0061 | -10 | c.286 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 9/21 | chr19 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38178086 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(11): Show |
a0001a0006a0019others(1): Show | a0001c0001a0001c0003a0006c0010others(2): Show | a0001c0001t0012a0001c0001t0021a0001c0003t0001others(5): Show | a0001c0001t0012g0103 a0001c0001t0021g0045 a0001c0003t0001g0092 others(11): Show |
14 | 164 | 0.0854 | -10 | c.420 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1_chr11_65633101_65655912 | 65646773 | CACTGGTG others(3): Show |
C | frameshift_variant | HIGH | NA19084.hp2 | a0008 | a0008c0024 | a0008c0024t0002 | a0008c0024t0002g0003 | 1 | 406 | 0.0025 | -10 | c.174 others(19): Show |
p.Leu others(5): Show |
SIPA1 | ENSG00000213445.10 | transcript | ENST00000534313.6 | protein_coding | 8/16 | 1913/3499 | 1740/3129 | 580/1042 | chr11 | TogoVar | |||
SIRPA_chr20_1890407_1945592 | 1900093 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0108 a0001c0001t0013g0165 |
2 | 418 | 0.0048 | -10 | c.79+ others(25): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1901163 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0111 | 1 | 418 | 0.0024 | -10 | c.79+ others(25): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPB2_chr20_1469578_1496420 | 1473380 | GCACACAC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(202): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(83): Show |
205 | 372 | 0.5511 | -10 | c.*27 others(21): Show |
SIRPB2 | ENSG00000196209.13 | transcript | ENST00000359801.8 | protein_coding | 1197 | chr20 | TogoVar | |||||||
SIRT1_chr10_67879656_67923390 | 67914059 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02602.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0080 a0001c0004t0003g0279 a0001c0004t0003g0280 |
3 | 410 | 0.0073 | -10 | c.191 others(29): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT2_chr19_38873560_38904618 | 38901226 | TTTTCATT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp2 others(25): Show |
a0001a0009 | a0001c0001a0009c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 others(22): Show |
28 | 426 | 0.0657 | -10 | c.-17 others(21): Show |
SIRT2 | ENSG00000068903.21 | transcript | ENST00000249396.12 | protein_coding | 1609 | chr19 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 218732 | CTGTTACT others(3): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG02965.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0133 a0001c0001t0002g0152 a0001c0001t0002g0185 |
3 | 414 | 0.0073 | -10 | c.117 others(25): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 234531 | CAGCCTCC others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 414 | 0.0024 | -10 | c.282 others(26): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 240101 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0090 | 1 | 414 | 0.0024 | -10 | c.-37 others(21): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 3760 | chr11 | TogoVar | |||||||
SIRT4_chr12_120297321_120318249 | 120304833 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 |
2 | 380 | 0.0053 | -10 | c.497 others(25): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT4_chr12_120297321_120318249 | 120311048 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 380 | 0.0026 | -10 | c.498 others(27): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT5_chr6_13569601_13620158 | 13611236 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0122 | 1 | 394 | 0.0025 | -10 | c.858 others(25): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIRT6_chr19_4169109_4187563 | 4180093 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0095 | 1 | 410 | 0.0024 | -10 | c.194 others(25): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
SIRT6_chr19_4169109_4187563 | 4182965 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 410 | 0.0024 | -10 | c.-43 others(19): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 403 | chr19 | TogoVar | |||||||
SIRT7_chr17_81906939_81923176 | 81921679 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 342 | 0.0029 | -10 | c.-35 others(21): Show |
SIRT7 | ENSG00000187531.14 | transcript | ENST00000328666.11 | protein_coding | 3504 | chr17 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35644350 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01074.hp2 HG02572.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 |
11 | 434 | 0.0254 | -10 | c.*54 others(21): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 4944 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35647667 | TGAGAGAG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(183): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show |
186 | 434 | 0.4286 | -10 | c.*21 others(21): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 1627 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35654331 | TCTCACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 434 | 0.0023 | -10 | c.-34 others(21): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 3401 | chr9 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950153 | TACACACA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01255.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(3): Show |
12 | 448 | 0.0268 | -10 | c.*53 others(21): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4083 | chr2 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950863 | GCACGCAC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02080.hp2 HG02165.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0007g0001 others(3): Show |
12 | 448 | 0.0268 | -10 | c.*61 others(21): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4793 | chr2 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950890 | CACACACA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 NA18955.hp2 NA18972.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0001 a0001c0002t0006g0004 |
4 | 448 | 0.0089 | -10 | c.*61 others(21): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4820 | chr2 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 164989457 | GGAGAGGA others(3): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0025 | a0001c0025t0008 | a0001c0025t0008g0021 | 1 | 266 | 0.0038 | -10 | c.510 others(29): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 44/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165022535 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 266 | 0.0038 | -10 | c.309 others(29): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 26/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165065464 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 266 | 0.0038 | -10 | c.636 others(23): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 6/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165073170 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG03041.hp1 others(3): Show |
a0003a0005a0008others(2): Show | a0003c0009a0005c0015a0008c0011others(2): Show | a0003c0009t0001a0005c0015t0001a0008c0011t0002others(2): Show | a0003c0009t0001g0181 a0005c0015t0001g0160 a0008c0011t0002g0248 others(3): Show |
6 | 266 | 0.0226 | -10 | c.255 others(27): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 3/47 | chr3 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50371128 | GAAAAAAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 387 | 0.0026 | -10 | c.-40 others(21): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 3917 | chr18 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50371132 | AAAAACAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02109.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0014a0001c0001t0025a0001c0001t0032others(4): Show | a0001c0001t0014g0029 a0001c0001t0025g0151 a0001c0001t0032g0152 others(10): Show |
23 | 387 | 0.0594 | -10 | c.-40 others(21): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 3913 | chr18 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59125802 | TTTGAAAG others(3): Show |
T | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 294 | 0.0034 | -10 | c.120 others(27): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59147377 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(1): Show |
4 | 294 | 0.0136 | -10 | c.33+ others(25): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21150909 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 378 | 0.0027 | -10 | c.*42 others(21): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 2685 | chr13 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21158440 | GTGAAACC others(3): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG02572.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 others(1): Show |
4 | 378 | 0.0106 | -10 | c.916 others(25): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 6/8 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48153040 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 292 | 0.0034 | -10 | c.978 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 11/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48205005 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01891.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0022 others(7): Show |
10 | 292 | 0.0343 | -10 | c.281 others(29): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48252746 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | NA18993.hp1 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 a0002c0002t0001g0266 |
2 | 292 | 0.0069 | -10 | c.281 others(29): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48325248 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18978.hp1 NA19005.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0078 a0001c0003t0001g0082 a0001c0003t0001g0087 |
3 | 292 | 0.0103 | -10 | c.280 others(29): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar |