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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIPA1L1_chr14_71315476_71746209 | 71543886 | TATATC | T | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02922.hp1 |
a0001a0004 | a0001c0001a0004c0016 | a0001c0001t0003a0004c0016t0003 | a0001c0001t0003g0156 a0001c0001t0003g0162 a0004c0016t0003g0160 |
3 | 174 | 0.0172 | -5 | c.-30 others(26): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71633110 | TTGTTA | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0132 a0001c0003t0001g0144 |
2 | 174 | 0.0115 | -5 | c.181 others(24): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71633155 | ATGTTC | A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00738.hp2 others(34): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0065 others(34): Show |
37 | 174 | 0.2126 | -5 | c.181 others(24): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742374 | AAAAAG | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01243.hp1 HG01261.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0016 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0106 others(8): Show |
11 | 174 | 0.0632 | -5 | c.*32 others(16): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1166 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232409961 | ATTACT | A | intron_variant | MODIFIER | HG01257.hp2 HG01884.hp1 HG02300.hp1 others(8): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0003a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0148 a0001c0001t0002g0049 a0001c0003t0001g0137 others(8): Show |
11 | 292 | 0.0377 | -5 | c.476 others(24): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 19/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232541247 | TTAACA | T | intron_variant | MODIFIER | HG02004.hp1 HG02109.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0006others(8): Show | a0001c0001t0001g0210 a0001c0002t0001g0106 a0001c0002t0001g0170 others(11): Show |
14 | 292 | 0.0480 | -5 | c.-26 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232566169 | GTTTGT | G | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01433.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0094 a0001c0001t0001g0143 a0001c0001t0002g0019 others(27): Show |
30 | 292 | 0.1027 | -5 | c.-27 others(24): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232598231 | GTCTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(64): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0163 a0001c0001t0001g0210 a0001c0001t0002g0016 others(64): Show |
67 | 292 | 0.2295 | -5 | c.-31 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232605694 | AAAAAC | A | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp2 HG01081.hp2 others(70): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(48): Show | a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0019 others(70): Show |
73 | 292 | 0.2500 | -5 | c.-31 others(26): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37924454 | CTAAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG03130.hp1 HG03540.hp2 others(1): Show |
a0002a0003a0022 | a0002c0002a0003c0005a0022c0022 | a0002c0002t0002a0002c0002t0008a0003c0005t0011others(1): Show | a0002c0002t0002g0028 a0002c0002t0008g0031 a0003c0005t0011g0029 others(1): Show |
4 | 164 | 0.0244 | -5 | c.-37 others(26): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38186480 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(45): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0030others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(21): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(45): Show |
48 | 164 | 0.2927 | -5 | c.443 others(24): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1938421 | GTGTTT | G | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02559.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0012 | a0001c0001t0012g0164 a0001c0001t0012g0166 a0001c0001t0012g0179 others(3): Show |
6 | 418 | 0.0144 | -5 | c.*86 others(14): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 8/8 | 865 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SIRPB2_chr20_1469578_1496420 | 1492843 | ATAATT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(140): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0007a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(47): Show |
143 | 372 | 0.3844 | -5 | c.-14 others(16): Show |
SIRPB2 | ENSG00000196209.13 | transcript | ENST00000359801.8 | protein_coding | 1424 | chr20 | TogoVar | |||||||
SIRPG_chr20_1624152_1662779 | 1646642 | ATTTGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(288): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0006others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(204): Show |
291 | 396 | 0.7349 | -5 | c.430 others(22): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
SIRT1_chr10_67879656_67923390 | 67893143 | TTTTAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01069.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0206 a0001c0001t0003g0207 others(11): Show |
15 | 410 | 0.0366 | -5 | c.942 others(22): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67903929 | GTGGCC | G | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0013 | a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 others(23): Show |
27 | 410 | 0.0659 | -5 | c.943 others(22): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67914059 | ATTTTT | A | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01175.hp1 others(15): Show |
a0001a0011 | a0001c0001a0001c0005a0011c0015 | a0001c0001t0003a0001c0001t0007a0001c0005t0003others(1): Show | a0001c0001t0003g0018 a0001c0001t0003g0149 a0001c0001t0003g0152 others(14): Show |
18 | 410 | 0.0439 | -5 | c.191 others(24): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67915738 | TAACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG04184.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0054 others(1): Show |
4 | 410 | 0.0098 | -5 | c.191 others(22): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT2_chr19_38873560_38904618 | 38894091 | GGCTTT | G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 others(5): Show |
9 | 426 | 0.0211 | -5 | c.64- others(18): Show |
SIRT2 | ENSG00000068903.21 | transcript | ENST00000249396.12 | protein_coding | 2/15 | chr19 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 225413 | AAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00673.hp2 others(39): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0001a0003c0003t0011others(1): Show | a0001c0001t0005g0053 a0001c0001t0005g0190 a0003c0003t0001g0005 others(25): Show |
42 | 414 | 0.1015 | -5 | c.808 others(22): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 234403 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00733.hp1 others(24): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001a0005c0006t0005 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0036 others(9): Show |
27 | 414 | 0.0652 | -5 | c.282 others(20): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
SIRT4_chr12_120297321_120318249 | 120311735 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(88): Show |
a0001a0003a0008 | a0001c0001a0003c0005a0008c0010 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0012 others(41): Show |
91 | 380 | 0.2395 | -5 | c.498 others(20): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT5_chr6_13569601_13620158 | 13597540 | GTTTAT | G | intron_variant | MODIFIER | HG00140.hp1 HG01256.hp1 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0172 a0001c0001t0001g0180 a0001c0001t0001g0181 others(4): Show |
8 | 394 | 0.0203 | -5 | c.617 others(20): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIRT6_chr19_4169109_4187563 | 4180093 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 others(11): Show |
43 | 410 | 0.1049 | -5 | c.194 others(20): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
SIRT6_chr19_4169109_4187563 | 4187432 | AAAAGG | A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0096 a0001c0001t0001g0097 others(3): Show |
6 | 410 | 0.0146 | -5 | c.-48 others(16): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 4870 | chr19 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44945310 | TAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00673.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0022a0001c0001t0023others(4): Show | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0014 others(6): Show |
47 | 448 | 0.1049 | -5 | c.*57 others(14): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 2/2 | 572 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SIX5_chr19_45759785_45774252 | 45759787 | ATTTAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(404): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(33): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(41): Show |
407 | 414 | 0.9831 | -5 | c.*57 others(16): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 4997 | chr19 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 164999417 | GATTAT | G | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG02630.hp1 others(2): Show |
a0001a0005a0013 | a0001c0007a0005c0019a0013c0020 | a0001c0007t0003a0005c0019t0003a0013c0020t0003 | a0001c0007t0003g0154 a0001c0007t0003g0156 a0001c0007t0003g0159 others(2): Show |
5 | 266 | 0.0188 | -5 | c.440 others(22): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 37/47 | chr3 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50386175 | CATATA | C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0017a0001c0004t0020others(1): Show | a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 others(7): Show |
16 | 387 | 0.0413 | -5 | c.449 others(20): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SKA1_chr18_50370046_50399168 | 50392450 | CCTCAA | C | 3_prime_UTR_variant | MODIFIER | HG02809.hp1 HG02895.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0007 | 3 | 387 | 0.0078 | -5 | c.*20 others(14): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 7/7 | 205 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SKA1_chr18_50370046_50399168 | 50394843 | CTTTAT | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02109.hp1 others(13): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0017a0001c0004t0020others(1): Show | a0001c0004t0006g0010 a0001c0004t0006g0030 a0001c0004t0006g0044 others(7): Show |
16 | 387 | 0.0413 | -5 | c.*25 others(16): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 676 | chr18 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59113222 | TAAGAA | T | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0273 a0001c0001t0001g0274 |
4 | 294 | 0.0136 | -5 | c.298 others(20): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 3/3 | chr17 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59134031 | GATTAA | G | intron_variant | MODIFIER | HG02735.hp2 HG03491.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0012 | a0001c0001t0003g0104 a0001c0001t0011g0105 a0001c0001t0012g0059 |
3 | 294 | 0.0102 | -5 | c.34- others(20): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59149541 | TTAAAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 others(6): Show |
9 | 294 | 0.0306 | -5 | c.33+ others(20): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21164065 | CTTCTT | C | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 NA18522.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0066 a0002c0002t0005g0105 a0002c0002t0005g0122 others(2): Show |
5 | 378 | 0.0132 | -5 | c.744 others(22): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 4/8 | chr13 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21172824 | CATATT | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0077 a0001c0001t0002g0004 a0001c0001t0002g0007 others(45): Show |
85 | 378 | 0.2249 | -5 | c.104 others(20): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48361071 | GTACTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(84): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(84): Show |
87 | 292 | 0.2980 | -5 | c.178 others(22): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26799114 | ACAAGG | A | intron_variant | MODIFIER | HG02027.hp1 NA18946.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0195 |
3 | 296 | 0.0101 | -5 | c.307 others(24): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26815087 | CAAGAT | C | intron_variant | MODIFIER | HG00597.hp1 HG01123.hp1 HG02083.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0030 a0001c0001t0002g0235 a0001c0001t0004g0028 others(14): Show |
17 | 296 | 0.0574 | -5 | c.307 others(24): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
SKIC2_chr6_31954175_31974751 | 31955769 | CTTGTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(42): Show |
a0001a0008 | a0001c0001a0001c0010a0008c0015 | a0001c0001t0001a0001c0010t0001a0008c0015t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(5): Show |
45 | 453 | 0.0993 | -5 | c.-34 others(16): Show |
SKIC2 | ENSG00000204351.13 | transcript | ENST00000375394.7 | protein_coding | 3405 | chr6 | TogoVar | |||||||
SKIC3_chr5_95458894_95559977 | 95521630 | ATAACT | A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 others(2): Show |
5 | 352 | 0.0142 | -5 | c.201 others(22): Show |
SKIC3 | ENSG00000198677.13 | transcript | ENST00000358746.7 | protein_coding | 19/42 | chr5 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21510753 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG02895.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0003a0003c0003t0016others(2): Show | a0001c0001t0004g0131 a0003c0003t0003g0004 a0003c0003t0003g0014 others(5): Show |
8 | 230 | 0.0348 | -5 | c.*43 others(16): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 2721 | chr10 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21520792 | ATTAAG | A | intron_variant | MODIFIER | HG02922.hp1 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0016 | a0003c0003t0016g0011 | 2 | 230 | 0.0087 | -5 | c.-18 others(24): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21522266 | ACCCCC | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG01099.hp2 others(32): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0072 others(26): Show |
35 | 230 | 0.1522 | -5 | c.-19 others(24): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 2/3 | chr10 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170365752 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(144): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0030 a0001c0001t0001g0061 a0001c0001t0001g0067 others(142): Show |
147 | 362 | 0.4061 | -5 | c.109 others(24): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170367036 | GTTTAC | G | intron_variant | MODIFIER | NA19056.hp1 NA19057.hp1 NA19076.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0197 |
3 | 362 | 0.0083 | -5 | c.109 others(24): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170372105 | ATTAAG | A | intron_variant | MODIFIER | HG02071.hp2 HG03831.hp1 NA18949.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0018 | a0002c0002t0006g0313 a0002c0002t0006g0315 a0002c0002t0006g0317 others(6): Show |
9 | 362 | 0.0249 | -5 | c.109 others(24): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170394115 | ATTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0016others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(81): Show |
87 | 362 | 0.2403 | -5 | c.*17 others(16): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 7/7 | 1725 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SKIL_chr3_170352715_170401835 | 170397213 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02723.hp1 HG02809.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0016a0002c0002t0057a0002c0002t0059 | a0002c0002t0016g0022 a0002c0002t0016g0024 a0002c0002t0016g0025 others(3): Show |
6 | 362 | 0.0166 | -5 | c.*47 others(16): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 379 | chr3 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170400517 | TTTCCC | T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02486.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0030 | a0001c0001t0007g0080 a0001c0001t0007g0081 a0002c0002t0030g0284 |
3 | 362 | 0.0083 | -5 | c.*81 others(16): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3683 | chr3 | TogoVar |