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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIL1_chr5_138941724_139203368 | 139143344 | C | CACACACA others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 200 | 0.0050 | 18 | c.-10 others(37): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139143344 | C | CACACATA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 200 | 0.0050 | 18 | c.-10 others(37): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIL1_chr5_138941724_139203368 | 139155448 | T | TGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 NA18964.hp2 others(1): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0009 | a0001c0001t0001a0002c0003t0001a0008c0009t0001 | a0001c0001t0001g0080 a0001c0001t0001g0162 a0002c0003t0001g0160 others(1): Show |
4 | 200 | 0.0200 | 18 | c.-10 others(37): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100450696 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02135.hp2 NA18978.hp2 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0001 | a0001c0001t0010g0281 a0002c0002t0001g0048 a0002c0002t0001g0230 |
3 | 320 | 0.0094 | 18 | c.259 others(33): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100450696 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0006g0226 a0001c0001t0010g0284 a0001c0001t0011g0283 others(4): Show |
7 | 320 | 0.0219 | 18 | c.259 others(33): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100450696 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0274 | 1 | 320 | 0.0031 | 18 | c.259 others(33): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 3/11 | chr6 | TogoVar | |||||||
SIM2_chr21_36694115_36754917 | 36737961 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0211 a0001c0002t0002g0233 |
2 | 410 | 0.0049 | 18 | c.851 others(35): Show |
SIM2 | ENSG00000159263.16 | transcript | ENST00000290399.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176304213 | G | GCTCCCTC others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00642.hp2 others(47): Show |
a0002a0003a0005 | a0002c0002a0002c0014a0003c0004others(1): Show | a0002c0002t0002a0002c0014t0002a0003c0004t0001others(1): Show | a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 others(47): Show |
50 | 360 | 0.1389 | 18 | c.173 others(37): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16857517 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02071.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 a0001c0001t0002g0261 |
2 | 372 | 0.0054 | 18 | c.105 others(37): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16857553 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217 | 1 | 372 | 0.0027 | 18 | c.105 others(37): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIN3B_chr19_16824398_16885349 | 16857553 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02040.hp2 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0021 | a0001c0001t0002g0031 a0001c0001t0002g0256 a0001c0001t0002g0260 others(4): Show |
7 | 372 | 0.0188 | 18 | c.105 others(37): Show |
SIN3B | ENSG00000127511.10 | transcript | ENST00000248054.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SINHCAF_chr12_31275584_31331150 | 31285418 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | NA18990.hp2 NA18994.hp1 NA19010.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0266 others(2): Show |
5 | 349 | 0.0143 | 18 | c.506 others(35): Show |
SINHCAF | ENSG00000139146.14 | transcript | ENST00000337682.9 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
SIPA1L1_chr14_71315476_71746209 | 71356567 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0025 others(16): Show |
19 | 174 | 0.1092 | 18 | c.-46 others(39): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71491761 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG03239.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 a0001c0001t0002g0111 |
2 | 174 | 0.0115 | 18 | c.-46 others(39): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71502255 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 174 | 0.0058 | 18 | c.-46 others(39): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SIPA1L1_chr14_71315476_71746209 | 71742353 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 HG01993.hp2 HG02717.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0018 | a0001c0001t0001a0001c0001t0002a0005c0018t0002 | a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0083 others(3): Show |
6 | 174 | 0.0345 | 18 | c.*31 others(29): Show |
SIPA1L1 | ENSG00000197555.10 | transcript | ENST00000381232.8 | protein_coding | 1145 | chr14 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232528102 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0038 | a0002c0038t0001 | a0002c0038t0001g0098 | 1 | 292 | 0.0034 | 18 | c.-26 others(39): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232541933 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0014 | 1 | 292 | 0.0034 | 18 | c.-26 others(39): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37937741 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0032a0002c0002 | a0001c0001t0019a0001c0032t0003a0002c0002t0002others(2): Show | a0001c0001t0019g0022 a0001c0032t0003g0023 a0002c0002t0002g0028 others(2): Show |
5 | 164 | 0.0305 | 18 | c.-37 others(39): 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(11): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19240.hp1 |
a0003a0022 | a0003c0005a0022c0022 | a0003c0005t0011a0022c0022t0001 | a0003c0005t0011g0029 a0022c0022t0001g0030 |
2 | 164 | 0.0122 | 18 | c.-37 others(39): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38030623 | A | AATACATA others(11): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02280.hp2 others(4): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0005c0007others(1): Show | a0001c0001t0002a0001c0004t0003a0005c0007t0002others(1): Show | a0001c0001t0002g0099 a0001c0001t0002g0114 a0001c0004t0003g0032 others(4): Show |
7 | 164 | 0.0427 | 18 | c.-31 others(37): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38112011 | A | ACATGCAC others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0138 | 1 | 164 | 0.0061 | 18 | c.229 others(37): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38138897 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0141 | 1 | 164 | 0.0061 | 18 | c.314 others(37): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38138910 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0032 | 1 | 164 | 0.0061 | 18 | c.314 others(37): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38138910 | A | AAAAACAA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 164 | 0.0061 | 18 | c.314 others(37): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1_chr11_65633101_65655912 | 65638048 | C | CGGCCCCG others(11): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00642.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0024 |
2 | 406 | 0.0049 | 18 | c.-22 others(27): Show |
SIPA1 | ENSG00000213445.10 | transcript | ENST00000534313.6 | protein_coding | 52 | chr11 | TogoVar | |||||||
SIRPB1_chr20_1556385_1625009 | 1559135 | G | GTATATAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02922.hp2 NA20905.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0004a0004c0004t0005a0004c0004t0020 | a0001c0001t0004g0008 a0004c0004t0005g0209 a0004c0004t0020g0206 |
3 | 364 | 0.0082 | 18 | c.*63 others(29): Show |
SIRPB1 | ENSG00000101307.16 | transcript | ENST00000381605.9 | protein_coding | 2249 | chr20 | TogoVar | |||||||
SIRPD_chr20_1529251_1562705 | 1559135 | G | GTATATAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02922.hp2 NA20905.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0009 a0001c0004t0001g0146 |
3 | 390 | 0.0077 | 18 | c.-14 others(29): Show |
SIRPD | ENSG00000125900.13 | transcript | ENST00000381623.4 | protein_coding | 1431 | chr20 | TogoVar | |||||||
SIRPG_chr20_1624152_1662779 | 1650002 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01978.hp1 HG01978.hp2 others(9): Show |
a0002a0012 | a0002c0002a0002c0023a0012c0038 | a0002c0002t0001a0002c0002t0003a0002c0023t0003others(1): Show | a0002c0002t0001g0090 a0002c0002t0003g0008 a0002c0002t0003g0087 others(6): Show |
12 | 396 | 0.0303 | 18 | c.74- others(31): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
SIRT2_chr19_38873560_38904618 | 38885894 | T | TTTCTTTT others(11): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 426 | 0.0024 | 18 | c.502 others(35): Show |
SIRT2 | ENSG00000068903.21 | transcript | ENST00000249396.12 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 234403 | T | TTTGTTTT others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01256.hp1 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 a0001c0001t0004g0157 a0001c0001t0004g0158 others(1): Show |
5 | 414 | 0.0121 | 18 | c.282 others(33): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
SIRT3_chr11_210030_241342 | 240101 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 NA18939.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0076 |
4 | 414 | 0.0097 | 18 | c.-37 others(29): Show |
SIRT3 | ENSG00000142082.15 | transcript | ENST00000382743.9 | protein_coding | 3760 | chr11 | TogoVar | |||||||
SIRT4_chr12_120297321_120318249 | 120304803 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18945.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 a0001c0002t0001g0228 |
2 | 380 | 0.0053 | 18 | c.497 others(33): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SIRT5_chr6_13569601_13620158 | 13574141 | C | CCCCCCAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0041others(3): Show | a0001c0001t0004g0004 a0001c0001t0004g0020 a0001c0001t0004g0023 others(9): Show |
15 | 394 | 0.0381 | 18 | c.-79 others(27): Show |
SIRT5 | ENSG00000124523.17 | transcript | ENST00000606117.2 | protein_coding | 459 | chr6 | TogoVar | |||||||
SIRT6_chr19_4169109_4187563 | 4182965 | T | TTGTGTGT others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02074.hp1 HG02630.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0023 others(9): Show |
16 | 410 | 0.0390 | 18 | c.-44 others(27): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 403 | chr19 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35647667 | T | TGAGAGAG others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG01106.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 |
15 | 434 | 0.0346 | 18 | c.*21 others(29): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 1627 | chr9 | TogoVar | |||||||
SIX5_chr19_45759785_45774252 | 45761789 | A | ATCCAGCT others(11): Show |
downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 18 | c.*36 others(29): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 2995 | chr19 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165065464 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02451.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0007a0001c0030others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0003others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0088 others(6): Show |
9 | 266 | 0.0338 | 18 | c.636 others(31): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 6/47 | chr3 | TogoVar | |||||||
SKA2_chr17_59104857_59160186 | 59147377 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 294 | 0.0034 | 18 | c.33+ others(33): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48171734 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 292 | 0.0034 | 18 | c.827 others(35): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 9/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48224056 | G | GAGGAGGA others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG02027.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 others(28): Show |
31 | 292 | 0.1062 | 18 | c.281 others(37): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48413514 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03195.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 a0001c0003t0001g0080 |
2 | 292 | 0.0069 | 18 | c.46+ others(35): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 296 | 0.0034 | 18 | c.796 others(35): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26857310 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 296 | 0.0034 | 18 | c.68- others(33): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26864055 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 296 | 0.0034 | 18 | c.67+ others(31): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKIC8_chr15_78278235_78304609 | 78300336 | T | TGTAATCC others(11): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 436 | 0.0023 | 18 | c.-81 others(27): Show |
SKIC8 | ENSG00000140395.9 | transcript | ENST00000267973.7 | protein_coding | 728 | chr15 | TogoVar | |||||||
SKIDA1_chr10_21508475_21530682 | 21521058 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0012a0001c0006t0035a0001c0007t0022 | a0001c0001t0012g0079 a0001c0001t0012g0139 a0001c0001t0012g0180 others(2): Show |
5 | 230 | 0.0217 | 18 | c.-18 others(37): Show |
SKIDA1 | ENSG00000180592.17 | transcript | ENST00000449193.7 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170366696 | G | GACACACA others(11): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 362 | 0.0028 | 18 | c.109 others(37): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170400739 | C | CTCTTCTT others(11): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 362 | 0.0028 | 18 | c.*83 others(29): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3905 | chr3 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170400753 | C | CTTTCTTT others(11): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0327 | 1 | 362 | 0.0028 | 18 | c.*83 others(29): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3919 | chr3 | TogoVar |