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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC44A5_chr1_75197129_75616114 | 75330125 | ACACACAC others(45): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0135 a0001c0003t0001g0072 a0001c0004t0001g0144 others(1): Show |
4 | 154 | 0.0260 | -52 | c.101 others(69): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 4/23 | chr1 | TogoVar | |||||||
SLC4A1_chr17_44243390_44273135 | 44262742 | GCTGAGGC others(45): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0061 | 1 | 404 | 0.0025 | -52 | c.15+ others(63): Show |
SLC4A1 | ENSG00000004939.16 | transcript | ENST00000262418.12 | protein_coding | 2/19 | chr17 | TogoVar | |||||||
SLC9A2_chr2_102614553_102716355 | 102632095 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 326 | 0.0031 | -52 | c.289 others(71): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49884227 | CACACACA others(45): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0299 | 1 | 265 | 0.0038 | -52 | c.149 others(69): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97119129 | AAAGTCAA others(45): Show |
A | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 254 | 0.0039 | -52 | c.413 others(71): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
SMC6_chr2_17658812_17758810 | 17739827 | CACACACA others(45): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 a0001c0001t0004g0032 |
2 | 252 | 0.0079 | -52 | c.239 others(69): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168255 | AGAAAGAA others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG03710.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0000 a0001c0001t0014g0000 |
3 | 342 | 0.0088 | -52 | c.-31 others(63): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2938 | chr12 | TogoVar | |||||||
SMIM14_chr4_39541336_39643865 | 39619190 | TTAATTTA others(45): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG02071.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0247 a0001c0001t0003g0038 a0001c0001t0004g0335 others(2): Show |
5 | 337 | 0.0148 | -52 | c.-35 others(71): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168518393 | TTGTGTAT others(45): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0005 | a0001c0001t0001g0168 a0001c0002t0002g0052 a0001c0002t0002g0054 others(2): Show |
5 | 178 | 0.0281 | -52 | c.257 others(69): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560493 | GGCCCTGA others(45): Show |
G | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 171 | 0.0058 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560505 | TGAGGCTC others(45): Show |
T | intron_variant | MODIFIER | HG01069.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0172 a0001c0001t0003g0109 |
2 | 164 | 0.0122 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 158 | 0.0063 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560676 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00280.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0144 |
2 | 121 | 0.0165 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560858 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02129.hp1 HG02293.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0097 a0001c0003t0001g0155 |
2 | 168 | 0.0119 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168560936 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0158 |
2 | 134 | 0.0149 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561066 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02129.hp2 NA18963.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0002 | a0001c0001t0015g0163 a0001c0002t0002g0028 |
2 | 176 | 0.0114 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561092 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG03579.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0002t0002g0063 |
3 | 124 | 0.0242 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561222 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 173 | 0.0058 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561248 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02735.hp2 NA18990.hp2 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0003 | a0001c0001t0001g0143 a0001c0001t0001g0166 a0003c0009t0003g0086 |
3 | 130 | 0.0231 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561305 | TGGAGGAG others(45): Show |
T | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 125 | 0.0080 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561357 | CGGAGGAG others(45): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 | 1 | 153 | 0.0065 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561357 | CGGAGGAG others(45): Show |
T | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 153 | 0.0065 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168561430 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03492.hp1 NA18963.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0002 | a0001c0001t0001g0121 a0001c0001t0015g0163 a0001c0002t0002g0039 |
3 | 168 | 0.0179 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561456 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA18941.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0083 a0001c0002t0002g0056 |
2 | 120 | 0.0167 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561534 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02976.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0114 a0001c0001t0001g0124 |
3 | 173 | 0.0173 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561560 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02293.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0088 others(3): Show |
6 | 114 | 0.0526 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561669 | CGGAGGAG others(45): Show |
C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 163 | 0.0061 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561742 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG03834.hp2 NA19000.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0174 a0001c0002t0002g0007 |
2 | 170 | 0.0118 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561768 | ATTCTTGG others(45): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0136 a0001c0001t0001g0147 a0001c0001t0011g0119 |
3 | 119 | 0.0252 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562106 | ACCCTGAG others(45): Show |
A | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 111 | 0.0090 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562158 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 157 | 0.0064 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562241 | CGGAGGAG others(45): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02129.hp1 HG02738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0008others(3): Show | a0001c0001t0001g0127 a0001c0001t0001g0156 a0001c0002t0002g0002 others(9): Show |
12 | 176 | 0.0682 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562293 | TGGAGGAG others(45): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00673.hp1 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0099 others(7): Show |
10 | 140 | 0.0714 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562326 | GAGGCTCT others(45): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 | 1 | 173 | 0.0058 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562366 | GCCCTGAG others(45): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01361.hp2 HG02129.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0001g0070 a0001c0001t0009g0161 a0001c0002t0002g0028 others(4): Show |
7 | 159 | 0.0440 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168562391 | CATTCTTG others(45): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0174 |
2 | 161 | 0.0124 | -52 | c.637 others(71): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063237 | TTATTTAT others(45): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 |
a0001 | a0001c0004 | a0001c0004t0017 | a0001c0004t0017g0019 a0001c0004t0017g0146 |
2 | 167 | 0.0120 | -52 | c.56- others(67): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246483974 | TACTAGTT others(45): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0002c0003t0002a0002c0005t0001 | a0001c0001t0001g0023 a0002c0003t0002g0131 a0002c0005t0001g0123 |
3 | 147 | 0.0204 | -52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246484078 | TACTAGTT others(45): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02895.hp2 others(1): Show |
a0002 | a0002c0003a0002c0005a0002c0007others(1): Show | a0002c0003t0002a0002c0005t0001a0002c0007t0001others(1): Show | a0002c0003t0002g0131 a0002c0005t0001g0123 a0002c0007t0001g0140 others(1): Show |
4 | 122 | 0.0328 | -52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246484179 | TTGCACTA others(45): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(44): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0029 others(44): Show |
47 | 70 | 0.6714 | -52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246484612 | GAAAACAC others(45): Show |
G | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 121 | 0.0083 | -52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246484754 | CACTAGTT others(45): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02970.hp1 HG03130.hp1 |
a0002 | a0002c0003a0002c0005a0002c0017 | a0002c0003t0002a0002c0005t0001a0002c0017t0001 | a0002c0003t0002g0131 a0002c0005t0001g0123 a0002c0017t0001g0139 |
3 | 134 | 0.0224 | -52 | c.164 others(71): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNED1_chr2_240993618_241100568 | 241082904 | CACCTGCT others(45): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0009 | a0001c0002t0003g0177 a0001c0002t0009g0187 |
2 | 342 | 0.0058 | -52 | c.412 others(69): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1106178 | CACATGCT others(45): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02615.hp1 others(2): Show |
a0002a0003a0005 | a0002c0005a0003c0007a0005c0006 | a0002c0005t0001a0003c0007t0001a0003c0007t0002others(1): Show | a0002c0005t0001g0100 a0003c0007t0001g0007 a0003c0007t0001g0104 others(2): Show |
5 | 187 | 0.0267 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | chr2 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1106179 | ACATGCTG others(45): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0167 | 1 | 187 | 0.0053 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1106692 | GTGGATGC others(45): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0167 | 1 | 188 | 0.0053 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1106993 | CCTTGGTA others(45): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0079 | 1 | 187 | 0.0053 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1107108 | GTGGACAC others(45): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01975.hp2 HG02738.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0005a0003c0007others(3): Show | a0001c0002t0001a0002c0005t0001a0003c0007t0001others(3): Show | a0001c0002t0001g0006 a0001c0002t0001g0009 a0001c0002t0001g0031 others(7): Show |
10 | 186 | 0.0538 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1107210 | GAGTGGAC others(45): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG02572.hp2 HG03239.hp2 others(1): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0004c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0179 a0002c0003t0001g0185 a0004c0004t0001g0177 others(1): Show |
4 | 177 | 0.0226 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1107470 | GAGTGGTC others(45): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0082 | 1 | 126 | 0.0079 | -52 | c.325 others(69): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |