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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPRTN_chr1_231333293_231360023 | 231359083 | TATATATA others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02257.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0046 a0002c0002t0001g0002 |
2 | 350 | 0.0057 | -27 | c.*57 others(38): Show |
SPRTN | ENSG00000010072.16 | transcript | ENST00000295050.12 | protein_coding | 4061 | chr1 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155616103 | TCTCTCTC others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0039a0001c0001t0040 | a0001c0001t0007g0098 a0001c0001t0039g0097 a0001c0001t0040g0096 |
3 | 229 | 0.0131 | -27 | c.-28 others(46): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64830334 | CTTATTAT others(20): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0047 | a0003c0047t0031 | a0003c0047t0031g0260 | 1 | 82 | 0.0122 | -27 | c.-51 others(44): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77564278 | GAGGAGGA others(20): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0012a0001c0006t0018others(1): Show | a0001c0001t0004g0005 a0001c0001t0004g0006 a0001c0001t0004g0007 others(6): Show |
9 | 244 | 0.0369 | -27 | c.757 others(44): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 5/11 | chr14 | TogoVar | |||||||
SPTY2D1_chr11_18601403_18639342 | 18620481 | AAAAACAA others(20): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 442 | 0.0023 | -27 | c.61- others(42): Show |
SPTY2D1 | ENSG00000179119.15 | transcript | ENST00000336349.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45414926 | CACACACA others(20): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0001a0002 | a0001c0014a0002c0002 | a0001c0014t0001a0002c0002t0001 | a0001c0014t0001g0179 a0002c0002t0001g0136 |
2 | 224 | 0.0089 | -27 | c.233 others(46): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63945956 | TCTGGTTC others(20): Show |
T | intron_variant | MODIFIER | HG03195.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0082a0001c0001t0117 | a0001c0001t0082g0037 a0001c0001t0117g0078 |
2 | 168 | 0.0119 | -27 | c.68- others(44): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2B_chr1_144882288_145100328 | 144952805 | AACTTTTA others(20): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 54 | 0.0185 | -27 | c.423 others(44): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145096564 | CTTCAAAC others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 54 | 0.0185 | -27 | c.-19 others(38): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 1237 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121183734 | AGTGGAGT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0260 | 1 | 272 | 0.0037 | -27 | c.-19 others(38): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 1240 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121396386 | CCCGCCGC others(20): Show |
C | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 272 | 0.0037 | -27 | c.*85 others(38): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3513 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121396587 | TCCGCCAC others(20): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(29): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 others(168): Show |
171 | 272 | 0.6287 | -27 | c.*87 others(38): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3714 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240096 | GCGCGTGT others(20): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0162 | 1 | 276 | 0.0036 | -27 | c.856 others(42): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240104 | GCGTGCGC others(20): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0088 a0001c0001t0002g0029 a0001c0001t0013g0031 others(1): Show |
4 | 278 | 0.0144 | -27 | c.856 others(42): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSH1_chr12_108773191_108862583 | 108850068 | GGAGATGG others(20): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0301 | 1 | 330 | 0.0030 | -27 | c.110 others(44): Show |
SSH1 | ENSG00000084112.15 | transcript | ENST00000326495.10 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29895492 | CATTTTAT others(20): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0133 | 1 | 230 | 0.0043 | -27 | c.63+ others(44): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
SSH3_chr11_67298530_67317592 | 67312007 | AGCCTCAC others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp2 others(16): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0013 | a0001c0001t0002a0002c0003t0002a0006c0013t0002 | a0001c0001t0002g0024 a0002c0003t0002g0004 a0006c0013t0002g0004 |
19 | 330 | 0.0576 | -27 | c.*14 others(36): Show |
SSH3 | ENSG00000172830.13 | transcript | ENST00000308127.9 | protein_coding | 14/14 | 147 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SSH3_chr11_67298530_67317592 | 67312034 | GGCCTCAC others(20): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 | 2 | 292 | 0.0068 | -27 | c.*15 others(36): Show |
SSH3 | ENSG00000172830.13 | transcript | ENST00000308127.9 | protein_coding | 14/14 | 159 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SSRP1_chr11_57320988_57340892 | 57335944 | TAGAGCGT others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 368 | 0.0027 | -27 | c.-36 others(36): Show |
SSRP1 | ENSG00000149136.9 | transcript | ENST00000278412.7 | protein_coding | 53 | chr11 | TogoVar | |||||||
SSUH2_chr3_8614386_8649798 | 8617868 | ACAACCAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01069.hp2 others(42): Show |
a0001a0004a0010 | a0001c0001a0004c0005a0010c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0024 a0001c0001t0001g0036 others(39): Show |
45 | 454 | 0.0991 | -27 | c.*19 others(38): Show |
SSUH2 | ENSG00000125046.16 | transcript | ENST00000544814.7 | protein_coding | 1517 | chr3 | TogoVar | |||||||
SSX2IP_chr1_84638706_84695461 | 84685830 | TGGCTATA others(20): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 318 | 0.0031 | -27 | c.-90 others(44): Show |
SSX2IP | ENSG00000117155.17 | transcript | ENST00000342203.8 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
SSX2IP_chr1_84638706_84695461 | 84690718 | CGCGCGCG others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0218 | 1 | 318 | 0.0031 | -27 | c.-46 others(36): Show |
SSX2IP | ENSG00000117155.17 | transcript | ENST00000342203.8 | protein_coding | 258 | chr1 | TogoVar | |||||||
ST3GAL1_chr8_133449848_133576887 | 133576566 | AAAAAAAC others(20): Show |
A | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01243.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0001g0165 others(16): Show |
19 | 319 | 0.0596 | -27 | c.-54 others(38): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 4680 | chr8 | TogoVar | |||||||
ST3GAL3_chr1_43702536_43936159 | 43875897 | CTCTTCTT others(20): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0243 a0001c0001t0004g0047 |
2 | 150 | 0.0133 | -27 | c.303 others(46): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43875926 | CTTCTTCT others(20): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0222 others(1): Show |
4 | 269 | 0.0149 | -27 | c.303 others(46): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43875929 | CTTCTTCT others(20): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0076 a0001c0001t0002g0217 |
3 | 249 | 0.0120 | -27 | c.303 others(46): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST3GAL3_chr1_43702536_43936159 | 43875932 | CTTCTTCT others(20): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 244 | 0.0041 | -27 | c.303 others(46): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46725973 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0015 | 1 | 309 | 0.0032 | -27 | c.132 others(46): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | |||||||
ST8SIA6_chr10_17310421_17459595 | 17374720 | AAATAAAT others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(54): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0124 others(54): Show |
57 | 294 | 0.1939 | -27 | c.291 others(46): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
ST8SIA6_chr10_17310421_17459595 | 17451105 | ATTTCTTA others(20): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0003 | a0001c0001t0003g0276 a0001c0001t0004g0280 a0001c0003t0003g0277 others(2): Show |
5 | 294 | 0.0170 | -27 | c.200 others(44): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 2/7 | chr10 | TogoVar | |||||||
STAC_chr3_36375504_36553007 | 36492024 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 313 | 0.0032 | -27 | c.688 others(44): Show |
STAC | ENSG00000144681.11 | transcript | ENST00000273183.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73834219 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0006 | 1 | 365 | 0.0027 | -27 | c.203 others(44): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73834223 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0024 a0001c0001t0006g0025 |
2 | 364 | 0.0055 | -27 | c.203 others(44): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STAMBP_chr2_73823961_73872168 | 73834233 | AAAAATAT others(20): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0303 | 1 | 364 | 0.0027 | -27 | c.203 others(44): Show |
STAMBP | ENSG00000124356.17 | transcript | ENST00000394070.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STAP2_chr19_4319043_4343827 | 4335191 | ATCCATCA others(20): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0053 | 1 | 386 | 0.0026 | -27 | c.103 others(44): Show |
STAP2 | ENSG00000178078.12 | transcript | ENST00000594605.6 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
STAT5B_chr17_42194177_42281391 | 42274291 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 258 | 0.0039 | -27 | c.-11 others(44): Show |
STAT5B | ENSG00000173757.11 | transcript | ENST00000293328.8 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
STAT6_chr12_57090408_57116362 | 57100699 | AGAGAAAG others(20): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 366 | 0.0055 | -27 | c.151 others(44): Show |
STAT6 | ENSG00000166888.12 | transcript | ENST00000300134.8 | protein_coding | 13/21 | chr12 | TogoVar | |||||||
STAT6_chr12_57090408_57116362 | 57102965 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0052 | 2 | 26 | 0.0769 | -27 | c.121 others(42): Show |
STAT6 | ENSG00000166888.12 | transcript | ENST00000300134.8 | protein_coding | 11/21 | chr12 | TogoVar | |||||||
STAU1_chr20_49108339_49193334 | 49169465 | TGCTCAAC others(20): Show |
T | intron_variant | MODIFIER | NA18950.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 a0001c0001t0003g0067 |
2 | 364 | 0.0055 | -27 | c.-84 others(44): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
STAU2_chr8_73415369_73751840 | 73428365 | CCATTAAT others(20): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00733.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0017 others(34): Show |
37 | 238 | 0.1555 | -27 | c.153 others(46): Show |
STAU2 | ENSG00000040341.18 | transcript | ENST00000524300.6 | protein_coding | 13/14 | chr8 | TogoVar | |||||||
STIM1_chr11_3850664_4098208 | 4095384 | AACTGACG others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(177): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0134 others(177): Show |
180 | 298 | 0.6040 | -27 | c.*35 others(38): Show |
STIM1 | ENSG00000167323.13 | transcript | ENST00000526596.2 | protein_coding | 2177 | chr11 | TogoVar | |||||||
STK32C_chr10_132202492_132312950 | 132205953 | GGGCAGCC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(137): Show |
140 | 366 | 0.3825 | -27 | c.*20 others(38): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1538 | chr10 | TogoVar | |||||||
STK32C_chr10_132202492_132312950 | 132253489 | GGAGGGAG others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0024others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0037 others(52): Show |
56 | 366 | 0.1530 | -27 | c.263 others(44): Show |
STK32C | ENSG00000165752.17 | transcript | ENST00000298630.8 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
STK33_chr11_8386870_8599228 | 8553174 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03942.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0001 | a0001c0001t0010g0319 a0001c0002t0001g0225 a0001c0002t0001g0226 |
3 | 307 | 0.0098 | -27 | c.-46 others(48): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
STK38_chr6_36488892_36552479 | 36549354 | TCTTCTTC others(20): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0357 a0001c0001t0011g0361 |
2 | 348 | 0.0057 | -27 | c.-21 others(38): Show |
STK38 | ENSG00000112079.9 | transcript | ENST00000229812.8 | protein_coding | 1876 | chr6 | TogoVar | |||||||
STK38_chr6_36488892_36552479 | 36549360 | TCTTCTTC others(20): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 367 | 0.0027 | -27 | c.-22 others(38): Show |
STK38 | ENSG00000112079.9 | transcript | ENST00000229812.8 | protein_coding | 1882 | chr6 | TogoVar | |||||||
STK39_chr2_167949022_168252595 | 168227834 | TTTTTAGT others(20): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG02109.hp2 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0201 a0001c0001t0001g0215 a0001c0001t0001g0241 others(15): Show |
19 | 268 | 0.0709 | -27 | c.208 others(46): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
STK39_chr2_167949022_168252595 | 168247350 | GCCGGGGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG03688.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0115 | 1 | 268 | 0.0037 | -27 | c.59_ others(32): Show |
p.Val others(11): Show |
STK39 | ENSG00000198648.12 | transcript | ENST00000355999.5 | protein_coding | 1/18 | 245/3272 | 59/1638 | 20/545 | chr2 | TogoVar | |||
STMN3_chr20_63634712_63658424 | 63647635 | CATATATA others(20): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0080 | 1 | 376 | 0.0027 | -27 | c.20- others(42): Show |
STMN3 | ENSG00000197457.10 | transcript | ENST00000370053.3 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48564465 | TTCTTCTT others(20): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 | 1 | 368 | 0.0027 | -27 | c.-47 others(46): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |