| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(604): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 243 | 0.0041 | 611 | c.666 others(626): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(604): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 2 | 219 | 0.0091 | 611 | c.666 others(626): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(604): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0134 | 1 | 12 | 0.0833 | 611 | c.-45 others(632): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| COL17A1_chr10_104026286_104090880 | 104036145 | G | GGAGTGTG others(604): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0003 a0002c0010t0001g0262 a0002c0010t0001g0264 others(1): Show |
7 | 218 | 0.0321 | 611 | c.341 others(628): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 48/55 | chr10 | TogoVar | |||||||
| COL4A1_chr13_110143963_110312157 | 110255704 | G | GAAGGGGG others(604): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0072 | 1 | 260 | 0.0038 | 611 | c.85- others(628): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
| CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(604): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0216 | 1 | 232 | 0.0043 | 611 | c.928 others(626): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(604): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 164 | 0.0061 | 611 | c.923 others(630): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
| DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(604): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 164 | 0.0061 | 611 | c.923 others(630): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
| DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(604): Show |
intron_variant | MODIFIER | HG01934.hp2 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0116 |
2 | 84 | 0.0238 | 611 | c.724 others(630): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DUS3L_chr19_5780140_5796163 | 5787204 | G | GGTGGGAG others(604): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 | 1 | 164 | 0.0061 | 611 | c.127 others(626): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
| EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(604): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 92 | 0.0109 | 611 | c.551 others(630): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(604): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02922.hp2 HG03225.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0018a0001c0001t0036a0001c0001t0038others(4): Show | a0001c0001t0018g0006 a0001c0001t0036g0159 a0001c0001t0038g0161 others(4): Show |
7 | 98 | 0.0714 | 611 | c.551 others(630): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
| EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGTTGGT others(604): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01934.hp1 HG02129.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 a0001c0002t0001g0010 a0001c0002t0001g0013 others(3): Show |
6 | 93 | 0.0645 | 611 | c.86- others(624): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(604): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 31 | 0.0323 | 611 | c.-76 others(628): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(604): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02071.hp2 HG02129.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0065 others(4): Show |
7 | 37 | 0.1892 | 611 | c.-76 others(628): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(604): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02273.hp2 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0072 others(2): Show |
5 | 35 | 0.1429 | 611 | c.-76 others(628): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(604): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02273.hp1 NA18955.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0196 others(8): Show |
11 | 41 | 0.2683 | 611 | c.-76 others(628): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM3B_chr21_41311801_41362727 | 41313500 | C | CATACAGT others(604): Show |
upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 229 | 0.0044 | 611 | c.-33 others(622): Show |
FAM3B | ENSG00000183844.17 | transcript | ENST00000357985.7 | protein_coding | 3300 | chr21 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38946628 | A | AAATATAT others(604): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 323 | 0.0031 | 611 | c.617 others(628): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| HCN2_chr19_584881_622159 | 602360 | T | TCTCCTGC others(604): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0098 | 1 | 212 | 0.0047 | 611 | c.633 others(628): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124507824 | G | GGGGTAGG others(604): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 174 | 0.0057 | 611 | c.625 others(628): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(604): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0139 | 1 | 82 | 0.0122 | 611 | c.153 others(630): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 857706 | C | CAGTGGTG others(604): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19088.hp1 |
a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0060 a0002c0016t0001g0062 |
2 | 83 | 0.0241 | 611 | c.153 others(630): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LY75_chr2_159798355_159909756 | 159874319 | G | GTTTTGTA others(604): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 |
a0008a0029 | a0008c0009a0029c0056 | a0008c0009t0002a0029c0056t0001 | a0008c0009t0002g0295 a0029c0056t0001g0247 |
2 | 41 | 0.0488 | 611 | c.197 others(630): Show |
LY75 | ENSG00000054219.11 | transcript | ENST00000263636.5 | protein_coding | 12/34 | chr2 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(604): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 239 | 0.0042 | 611 | c.-32 others(622): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
| MBD3L3_chr19_7051207_7063676 | 7061827 | G | GAATATAA others(604): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 239 | 0.0042 | 611 | c.-32 others(622): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3152 | chr19 | TogoVar | |||||||
| MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGGGG others(604): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0197 | 1 | 213 | 0.0047 | 611 | c.250 others(626): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| MSLN_chr16_755734_773862 | 767619 | G | GGCGTGGA others(604): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0022 | a0022c0036 | a0022c0036t0001 | a0022c0036t0001g0126 | 1 | 218 | 0.0046 | 611 | c.159 others(628): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MSLN_chr16_755734_773862 | 767629 | A | AGGGGCGC others(604): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 357 | 0.0028 | 611 | c.159 others(628): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| MYDGF_chr19_4652545_4675342 | 4663552 | C | CCCACCCC others(604): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 389 | 0.0026 | 611 | c.287 others(628): Show |
MYDGF | ENSG00000074842.8 | transcript | ENST00000262947.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
| NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(604): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 167 | 0.0060 | 611 | c.147 others(630): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
| PASK_chr2_241101099_241154472 | 241116001 | C | CGGTCCTC others(604): Show |
intron_variant | MODIFIER | NA19064.hp1 NA19084.hp1 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0184 a0001c0023t0001g0191 |
2 | 323 | 0.0062 | 611 | c.307 others(628): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
| PRDM16_chr1_3064203_3443621 | 3351532 | C | CCTCCTCT others(604): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0040 | 1 | 148 | 0.0068 | 611 | c.439 others(630): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PRR22_chr19_5777960_5789746 | 5787204 | G | GGTGGGAG others(604): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 2 | 0.5000 | 611 | c.-25 others(622): Show |
PRR22 | ENSG00000212123.4 | transcript | ENST00000419421.3 | protein_coding | 2459 | chr19 | TogoVar | |||||||
| PWWP2B_chr10_132392200_132422859 | 132392594 | G | GTGGTGAT others(604): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 364 | 0.0027 | 611 | c.-46 others(622): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4605 | chr10 | TogoVar | |||||||
| RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(604): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0104 |
2 | 126 | 0.0159 | 611 | c.433 others(626): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(604): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0021 others(34): Show |
56 | 180 | 0.3111 | 611 | c.433 others(626): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(604): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00673.hp1 others(55): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0039 others(42): Show |
58 | 182 | 0.3187 | 611 | c.433 others(626): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(604): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(37): Show |
60 | 184 | 0.3261 | 611 | c.433 others(626): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| RABEP2_chr16_28899421_28930238 | 28915167 | T | TCTCCTGC others(604): Show |
intron_variant | MODIFIER | HG01192.hp2 NA18942.hp1 NA18949.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0003g0030 others(3): Show |
8 | 132 | 0.0606 | 611 | c.433 others(626): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(604): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 187 | 0.0053 | 611 | c.-50 others(622): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 113974180 | C | CTGGGGCG others(604): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0021 a0001c0003t0003g0030 |
2 | 60 | 0.0333 | 611 | c.*51 others(622): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3602 | chr13 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114099645 | G | GCCCCCAC others(604): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 64 | 0.0156 | 611 | c.56- others(628): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 340556 | C | CCAGGCCT others(604): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0091 a0001c0001t0004g0092 |
2 | 129 | 0.0155 | 611 | c.-21 others(630): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| RTN1_chr14_59590983_59875776 | 59750553 | A | ATATATCT others(604): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0080 | 1 | 105 | 0.0095 | 611 | c.242 others(628): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0135 | 1 | 132 | 0.0076 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008 | a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 others(6): Show |
9 | 140 | 0.0643 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SLC37A3_chr7_140328752_140403530 | 140387809 | A | AAATATAA others(604): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0142 | 1 | 132 | 0.0076 | 611 | c.-70 others(628): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
| SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(604): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(3): Show | a0001c0001t0001g0294 a0001c0005t0001g0018 a0001c0005t0001g0268 others(26): Show |
32 | 358 | 0.0894 | 611 | c.-24 others(628): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGGCGG others(604): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00735.hp1 HG00741.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 others(2): Show |
5 | 331 | 0.0151 | 611 | c.-24 others(628): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |