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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMTNL1_chr11_57532595_57555272 | 57545921 | T | TC | frameshift_variant | HIGH | NA18972.hp1 | a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0082 | 1 | 366 | 0.0027 | 1 | c.962 others(4): Show |
p.Ser others(5): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 5/8 | 1013/1695 | 963/1485 | 321/494 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SMTNL1_chr11_57532595_57555272 | 57545937 | A | AG | frameshift_variant | HIGH | NA19058.hp1 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0080 | 1 | 366 | 0.0027 | 1 | c.975 others(4): Show |
p.Lys others(5): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 5/8 | 1026/1695 | 976/1485 | 326/494 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SMTNL1_chr11_57532595_57555272 | 57545992 | G | GC | frameshift_variant | HIGH | NA19058.hp1 NA19090.hp2 |
a0012a0015 | a0012c0018a0015c0010 | a0012c0018t0001a0015c0010t0001 | a0012c0018t0001g0080 a0015c0010t0001g0041 |
2 | 366 | 0.0055 | 1 | c.103 others(5): Show |
p.Arg others(5): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 5/8 | 1084/1695 | 1034/1485 | 345/494 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SMTNL1_chr11_57532595_57555272 | 57546334 | C | CA | frameshift_variant | HIGH | NA19089.hp2 | a0014 | a0014c0016 | a0014c0016t0002 | a0014c0016t0002g0003 | 1 | 366 | 0.0027 | 1 | c.118 others(5): Show |
p.Tyr others(5): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 6/8 | 1233/1695 | 1183/1485 | 395/494 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SMTNL1_chr11_57532595_57555272 | 57549029 | C | CT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01256.hp2 others(23): Show |
a0001a0002a0009others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0005others(4): Show | a0001c0002t0001g0078 a0001c0002t0001g0083 a0001c0003t0002g0003 others(14): Show |
26 | 366 | 0.0710 | 1 | c.134 others(9): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4584902 | G | GC | frameshift_variant | HIGH | HG03669.hp2 | a0010 | a0010c0035 | a0010c0035t0001 | a0010c0035t0001g0028 | 1 | 442 | 0.0023 | 1 | c.300 others(4): Show |
p.Ser others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/8 | 378/2295 | 301/1386 | 101/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4584907 | G | GC | frameshift_variant | HIGH | NA19054.hp2 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0184 | 1 | 442 | 0.0023 | 1 | c.308 others(4): Show |
p.Pro others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/8 | 386/2295 | 309/1386 | 103/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4584970 | G | GC | frameshift_variant | HIGH | NA19060.hp1 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0054 | 1 | 442 | 0.0023 | 1 | c.367 others(4): Show |
p.His others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/8 | 445/2295 | 368/1386 | 123/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4592942 | A | AC | frameshift_variant | HIGH | NA18968.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0128 | 1 | 442 | 0.0023 | 1 | c.506 others(4): Show |
p.Glu others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3/8 | 584/2295 | 507/1386 | 169/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4592954 | T | TG | frameshift_variant | HIGH | NA18997.hp1 | a0013 | a0013c0032 | a0013c0032t0001 | a0013c0032t0001g0093 | 1 | 442 | 0.0023 | 1 | c.514 others(4): Show |
p.Ala others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3/8 | 592/2295 | 515/1386 | 172/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4593146 | C | CA | frameshift_variant | HIGH | NA18997.hp1 | a0013 | a0013c0032 | a0013c0032t0001 | a0013c0032t0001g0093 | 1 | 442 | 0.0023 | 1 | c.706 others(4): Show |
p.Thr others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3/8 | 784/2295 | 707/1386 | 236/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4595293 | T | TC | frameshift_variant | HIGH | NA18968.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0128 | 1 | 442 | 0.0023 | 1 | c.955 others(8): Show |
p.Phe others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 5/8 | 1033/2295 | 956/1386 | 319/461 | chr17 | TogoVar | |||
SMTNL2_chr17_4579529_4613319 | 4597296 | A | AC | frameshift_variant | HIGH | NA18968.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0128 | 1 | 442 | 0.0023 | 1 | c.123 others(5): Show |
p.Phe others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/8 | 1311/2295 | 1234/1386 | 412/461 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SMTNL2_chr17_4579529_4613319 | 4601414 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0004others(27): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(45): Show | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0012 others(280): Show |
360 | 442 | 0.8145 | 1 | c.125 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4602311 | C | CT | intron_variant | MODIFIER | HG01243.hp2 HG01978.hp1 HG02055.hp1 others(21): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0030others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(4): Show | a0001c0002t0001g0008 a0001c0002t0001g0081 a0001c0002t0001g0143 others(19): Show |
24 | 442 | 0.0543 | 1 | c.125 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4604681 | C | CT | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG01891.hp2 others(22): Show |
a0001a0008a0009 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0003t0007a0001c0004t0001others(7): Show | a0001c0002t0001g0178 a0001c0002t0001g0206 a0001c0003t0007g0250 others(21): Show |
25 | 442 | 0.0566 | 1 | c.126 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4605153 | G | GT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp2 others(107): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0004others(14): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(23): Show | a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0071 others(85): Show |
110 | 442 | 0.2489 | 1 | c.126 others(10): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4606424 | C | CT | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG03098.hp1 others(7): Show |
a0001a0002a0009 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0006a0001c0003t0001others(4): Show | a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0085 others(7): Show |
10 | 442 | 0.0226 | 1 | c.126 others(9): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4607305 | C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(133): Show |
a0001a0002a0005others(3): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(12): Show | a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0071 others(92): Show |
136 | 442 | 0.3077 | 1 | c.126 others(8): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4607868 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(133): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0002a0001c0002t0005a0001c0003t0002others(13): Show | a0001c0002t0002g0010 a0001c0002t0002g0042 a0001c0002t0002g0059 others(112): Show |
136 | 442 | 0.3077 | 1 | c.*39 others(5): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 8/8 | 391 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SMTNL2_chr17_4579529_4613319 | 4611955 | C | CA | downstream_gene_variant | MODIFIER | HG00609.hp2 HG02080.hp1 HG03017.hp1 others(14): Show |
a0001a0002a0014 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(6): Show | a0001c0002t0001g0085 a0001c0002t0001g0092 a0001c0002t0002g0214 others(13): Show |
17 | 442 | 0.0385 | 1 | c.*44 others(12): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3637 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4613302 | C | CA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp1 others(25): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0005a0001c0012others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(5): Show | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0044 others(21): Show |
28 | 442 | 0.0634 | 1 | c.*58 others(12): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 4984 | chr17 | TogoVar | |||||||
SMTN_chr22_31076318_31109624 | 31088105 | C | CT | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0173 | 1 | 362 | 0.0028 | 1 | c.193 others(4): Show |
p.Trp others(4): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 3/21 | 413/3296 | 194/2748 | 65/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31090127 | A | AG | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0173 | 1 | 362 | 0.0028 | 1 | c.813 others(4): Show |
p.Thr others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 8/21 | 1033/3296 | 814/2748 | 272/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091075 | C | CA | frameshift_variant | HIGH | NA18979.hp2 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0081 | 1 | 362 | 0.0028 | 1 | c.105 others(5): Show |
p.Pro others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 10/21 | 1273/3296 | 1054/2748 | 352/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091076 | A | AC | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0173 | 1 | 362 | 0.0028 | 1 | c.105 others(5): Show |
p.Gln others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 10/21 | 1277/3296 | 1058/2748 | 353/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091120 | G | GC | frameshift_variant | HIGH | NA18974.hp1 | a0015 | a0015c0026 | a0015c0026t0002 | a0015c0026t0002g0017 | 1 | 362 | 0.0028 | 1 | c.110 others(5): Show |
p.Ser others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 10/21 | 1321/3296 | 1102/2748 | 368/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091347 | G | GC | frameshift_variant | HIGH | NA19068.hp2 NA19089.hp1 |
a0020a0021 | a0020c0017a0021c0027 | a0020c0017t0002a0021c0027t0001 | a0020c0017t0002g0009 a0021c0027t0001g0173 |
2 | 362 | 0.0055 | 1 | c.132 others(5): Show |
p.Leu others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 10/21 | 1548/3296 | 1329/2748 | 443/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091424 | C | CG | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0173 | 1 | 362 | 0.0028 | 1 | c.140 others(5): Show |
p.Arg others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 10/21 | 1623/3296 | 1404/2748 | 468/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091760 | T | TG | frameshift_variant | HIGH | NA18974.hp1 | a0015 | a0015c0026 | a0015c0026t0002 | a0015c0026t0002g0017 | 1 | 362 | 0.0028 | 1 | c.154 others(5): Show |
p.Thr others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 11/21 | 1768/3296 | 1549/2748 | 517/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31091812 | G | GC | frameshift_variant | HIGH | NA19006.hp1 | a0018 | a0018c0023 | a0018c0023t0002 | a0018c0023t0002g0016 | 1 | 362 | 0.0028 | 1 | c.160 others(5): Show |
p.Ser others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 11/21 | 1825/3296 | 1606/2748 | 536/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31095437 | A | AG | frameshift_variant | HIGH | NA19089.hp1 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0173 | 1 | 362 | 0.0028 | 1 | c.176 others(5): Show |
p.Val others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 12/21 | 1989/3296 | 1770/2748 | 590/915 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SMTN_chr22_31076318_31109624 | 31098582 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(188): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(22): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 others(110): Show |
191 | 362 | 0.5276 | 1 | c.216 others(8): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31098838 | C | CA | frameshift_variant others(1): Show |
HIGH | NA19057.hp2 | a0019 | a0019c0022 | a0019c0022t0002 | a0019c0022t0002g0036 | 1 | 362 | 0.0028 | 1 | c.233 others(10): Show |
p.Gly others(5): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 17/21 | 2551/3296 | 2332/2748 | 778/915 | chr22 | TogoVar | |||
SMTN_chr22_31076318_31109624 | 31101783 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(78): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0009a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(12): Show | a0001c0001t0001g0078 a0001c0001t0001g0129 a0001c0001t0001g0136 others(40): Show |
81 | 362 | 0.2238 | 1 | c.*20 others(8): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SMTN_chr22_31076318_31109624 | 31109544 | A | AT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(124): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0013others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(68): Show |
127 | 362 | 0.3508 | 1 | c.*52 others(12): Show |
SMTN | ENSG00000183963.19 | transcript | ENST00000333137.12 | protein_coding | 4921 | chr22 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33037309 | T | TA | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02717.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0023a0001c0001t0087 | a0001c0001t0020g0184 a0001c0001t0023g0058 a0001c0001t0023g0059 others(1): Show |
4 | 418 | 0.0096 | 1 | c.*99 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4455 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33037998 | C | CT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01109.hp1 HG02071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0095 others(9): Show |
13 | 418 | 0.0311 | 1 | c.*92 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 3766 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33040684 | C | CA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(139): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0038 others(101): Show |
142 | 418 | 0.3397 | 1 | c.*66 others(12): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 1080 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33040733 | A | AT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0067 | a0001c0001t0002g0050 a0001c0001t0008g0047 a0001c0001t0008g0048 others(5): Show |
8 | 418 | 0.0191 | 1 | c.*65 others(12): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 1031 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33041586 | C | CA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01175.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0003g0074 others(35): Show |
42 | 418 | 0.1005 | 1 | c.*57 others(12): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 178 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33042147 | G | GC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(117): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(23): Show | a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0021 others(94): Show |
120 | 418 | 0.2871 | 1 | c.*51 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 12/12 | 5145 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33043992 | T | TA | 3_prime_UTR_variant | MODIFIER | HG02083.hp2 HG02132.hp1 HG02135.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0031a0001c0001t0048 | a0001c0001t0018g0212 a0001c0001t0018g0218 a0001c0001t0018g0230 others(2): Show |
6 | 418 | 0.0144 | 1 | c.*33 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 12/12 | 3300 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33046892 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01257.hp2 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0033a0001c0001t0062 | a0001c0001t0019g0153 a0001c0001t0019g0228 a0001c0001t0019g0296 others(3): Show |
6 | 418 | 0.0144 | 1 | c.*40 others(5): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 12/12 | 400 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33047211 | G | GC | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0063 | a0001c0001t0010g0011 a0001c0001t0010g0034 a0001c0001t0010g0240 others(1): Show |
8 | 418 | 0.0191 | 1 | c.*81 others(4): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 12/12 | 81 | chr9 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33050526 | T | TA | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01346.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0004g0200 others(17): Show |
20 | 418 | 0.0479 | 1 | c.129 others(10): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33052017 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(45): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0003g0159 a0001c0001t0004g0203 a0001c0001t0004g0280 others(33): Show |
48 | 418 | 0.1148 | 1 | c.129 others(10): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33059129 | T | TA | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0087 | a0001c0001t0023g0058 a0001c0001t0023g0059 a0001c0001t0023g0060 others(1): Show |
4 | 418 | 0.0096 | 1 | c.750 others(9): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33062185 | G | GA | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01099.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0020a0001c0001t0035others(12): Show | a0001c0001t0001g0264 a0001c0001t0020g0183 a0001c0001t0020g0184 others(38): Show |
44 | 418 | 0.1053 | 1 | c.502 others(6): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33066505 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(241): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 others(173): Show |
244 | 418 | 0.5837 | 1 | c.501 others(9): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4/11 | chr9 | TogoVar |