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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGIP1_chr1_66529153_66756139 | 66630904 | A | AAAGAAAG others(87): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0118 | 1 | 302 | 0.0033 | 94 | c.75- others(109): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3BP4_chr2_234947017_235060714 | 235038241 | T | TATATATT others(87): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 HG03486.hp1 others(3): Show |
a0002 | a0002c0001a0002c0021 | a0002c0001t0001a0002c0021t0001 | a0002c0001t0001g0042 a0002c0001t0001g0093 a0002c0001t0001g0261 others(3): Show |
6 | 348 | 0.0172 | 94 | c.119 others(111): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272632 | T | TTACAAAA others(87): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0006a0001c0009 | a0001c0006t0001a0001c0009t0003 | a0001c0006t0001g0278 a0001c0006t0001g0281 a0001c0009t0003g0119 |
3 | 376 | 0.0080 | 94 | c.331 others(111): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50678791 | A | ATGGGGAG others(87): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19240.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0065 | a0001c0003t0001a0001c0003t0004a0001c0065t0003 | a0001c0003t0001g0059 a0001c0003t0004g0073 a0001c0065t0003g0126 |
3 | 316 | 0.0095 | 94 | c.257 others(113): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837286 | A | AGAAAAAG others(87): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 350 | 0.0029 | 94 | c.378 others(111): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1069990 | C | CGCAGCCC others(87): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0070 | 1 | 118 | 0.0085 | 94 | c.224 others(113): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070931 | G | GGGCATCA others(87): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0089 | 1 | 118 | 0.0085 | 94 | c.224 others(113): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071557 | C | CGGGCATC others(87): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0003 | 1 | 118 | 0.0085 | 94 | c.224 others(113): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071657 | C | CAGCCCCA others(87): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0035 | a0001c0035t0004 | a0001c0035t0004g0020 | 1 | 118 | 0.0085 | 94 | c.224 others(113): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072040 | G | GAGCCCCC others(87): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0003 | 1 | 118 | 0.0085 | 94 | c.224 others(113): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072512 | G | GAGCCCCC others(87): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0008 | a0008c0041 | a0008c0041t0003 | a0008c0041t0003g0008 | 1 | 118 | 0.0085 | 94 | c.224 others(113): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC22A15_chr1_115971513_116075054 | 116008003 | A | ATGAGAAC others(87): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 308 | 0.0033 | 94 | c.301 others(113): Show |
SLC22A15 | ENSG00000163393.13 | transcript | ENST00000369503.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC22A24_chr11_63074940_63149221 | 63092529 | C | CATGGTAC others(87): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01070.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0006a0002c0001others(3): Show | a0001c0002t0001a0001c0006t0001a0002c0001t0001others(3): Show | a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0175 others(26): Show |
29 | 366 | 0.0792 | 94 | c.107 others(113): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 6/9 | chr11 | TogoVar | |||||||
SLC22A24_chr11_63074940_63149221 | 63092529 | C | CATGGTAC others(87): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0239 | 1 | 366 | 0.0027 | 94 | c.107 others(113): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 6/9 | chr11 | TogoVar | |||||||
SLC22A24_chr11_63074940_63149221 | 63113143 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0012 | a0012c0021 | a0012c0021t0002 | a0012c0021t0002g0084 | 1 | 366 | 0.0027 | 94 | c.830 others(111): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 4/9 | chr11 | TogoVar | |||||||
SLC28A1_chr15_84879662_84950798 | 84928551 | T | TTTCTTTC others(87): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0234 | 1 | 396 | 0.0025 | 94 | c.108 others(113): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC28A1_chr15_84879662_84950798 | 84928551 | T | TTTCTTTC others(87): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0219 | 1 | 396 | 0.0025 | 94 | c.108 others(113): Show |
SLC28A1 | ENSG00000156222.12 | transcript | ENST00000394573.6 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC2A2_chr3_170991347_171031720 | 171019129 | G | GTATATAT others(87): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 328 | 0.0031 | 94 | c.16- others(107): Show |
SLC2A2 | ENSG00000163581.14 | transcript | ENST00000314251.8 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SLC35F3_chr1_233899676_234329511 | 234140002 | A | AATAAAAT others(87): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18974.hp2 |
a0001a0003 | a0001c0003a0003c0007 | a0001c0003t0002a0003c0007t0010 | a0001c0003t0002g0003 a0003c0007t0010g0116 |
2 | 158 | 0.0127 | 94 | c.284 others(113): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SLC37A1_chr21_42508852_42586426 | 42582962 | C | CGCTTGCC others(87): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01884.hp1 others(23): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0017others(10): Show | a0001c0001t0006g0026 a0001c0001t0006g0028 a0001c0001t0006g0031 others(21): Show |
26 | 356 | 0.0730 | 94 | c.*26 others(105): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 1537 | chr21 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73081669 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0075 | 1 | 180 | 0.0056 | 94 | c.147 others(111): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(87): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0111 | 1 | 370 | 0.0027 | 94 | c.274 others(111): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(87): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0173 a0001c0001t0009g0046 |
2 | 370 | 0.0054 | 94 | c.274 others(111): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(87): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0145 |
3 | 370 | 0.0081 | 94 | c.274 others(111): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC41A3_chr3_126001357_126089124 | 126059263 | G | GAAAGAAA others(87): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0162 | 1 | 370 | 0.0027 | 94 | c.274 others(111): Show |
SLC41A3 | ENSG00000114544.17 | transcript | ENST00000360370.9 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203284 | A | AGAGAGAG others(87): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 | a0005 | a0005c0026 | a0005c0026t0024 | a0005c0026t0024g0110 | 1 | 188 | 0.0053 | 94 | c.*82 others(105): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3889 | chr8 | TogoVar | |||||||
SLC45A4_chr8_141202174_141313288 | 141203284 | A | AGAGAGAG others(87): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG03041.hp2 |
a0002 | a0002c0005 | a0002c0005t0007a0002c0005t0012 | a0002c0005t0007g0122 a0002c0005t0012g0126 |
2 | 188 | 0.0106 | 94 | c.*82 others(105): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3889 | chr8 | TogoVar | |||||||
SLC5A12_chr11_26662020_26727060 | 26680350 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0048 | 1 | 412 | 0.0024 | 94 | c.147 others(111): Show |
SLC5A12 | ENSG00000148942.15 | transcript | ENST00000396005.8 | protein_coding | 12/14 | chr11 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79909628 | G | GCAACCTT others(87): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187 | 1 | 352 | 0.0028 | 94 | c.609 others(111): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 5/5 | chr18 | TogoVar | |||||||
SLC7A10_chr19_33203664_33230850 | 33218682 | T | TCTCTCTC others(87): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0344 | 1 | 410 | 0.0024 | 94 | c.152 others(111): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92047118 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0158 | 1 | 190 | 0.0053 | 94 | c.647 others(113): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472620 | C | CGATATAT others(87): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01934.hp2 HG01978.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0107 a0001c0001t0003g0101 a0001c0001t0008g0195 others(5): Show |
8 | 230 | 0.0348 | 94 | c.467 others(111): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472620 | C | CGATATAT others(87): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 230 | 0.0044 | 94 | c.467 others(111): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20472629 | T | TATATCAA others(87): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03942.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0037a0001c0004t0002 | a0001c0001t0037g0187 a0001c0004t0002g0124 |
2 | 230 | 0.0087 | 94 | c.467 others(111): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501214 | A | ATATATTT others(87): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0316 |
2 | 340 | 0.0059 | 94 | c.*17 others(113): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55501214 | A | ATATATTT others(87): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0322 a0001c0001t0006g0319 a0001c0001t0006g0323 others(3): Show |
6 | 340 | 0.0177 | 94 | c.*17 others(113): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246478863 | A | ATATATGC others(87): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 150 | 0.0067 | 94 | c.164 others(113): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403322 | G | GGGGGGAG others(87): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 HG03017.hp1 HG03453.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0015 a0001c0001t0001g0065 a0001c0001t0001g0121 others(2): Show |
5 | 380 | 0.0132 | 94 | c.-31 others(105): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3153 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403327 | G | GAGAAAGG others(87): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 380 | 0.0026 | 94 | c.-32 others(105): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3158 | chr9 | TogoVar | |||||||
SNAPC4_chr9_136370571_136405170 | 136403393 | A | AGGGAGCA others(87): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0016 | a0016c0059 | a0016c0059t0001 | a0016c0059t0001g0109 | 1 | 380 | 0.0026 | 94 | c.-32 others(105): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3224 | chr9 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1111962 | C | CAGTCCTT others(87): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0075 | 1 | 190 | 0.0053 | 94 | c.325 others(113): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221594 | C | CTGCCTCT others(87): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 190 | 0.0053 | 94 | c.719 others(113): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557496 | A | ATTCTTTT others(87): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0290 a0001c0001t0003g0291 |
2 | 322 | 0.0062 | 94 | c.*56 others(105): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3596 | chr14 | TogoVar | |||||||
SOCS7_chr17_38346844_38410593 | 38389892 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0016a0001c0001t0049others(1): Show | a0001c0001t0002g0002 a0001c0001t0016g0014 a0001c0001t0049g0003 others(1): Show |
4 | 289 | 0.0138 | 94 | c.168 others(113): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38389906 | T | TATATATG others(87): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0093 | 1 | 289 | 0.0035 | 94 | c.168 others(113): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 107065481 | T | TCCTCTCC others(87): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0125 | 1 | 130 | 0.0077 | 94 | c.558 others(113): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107065481 | T | TCCTCTCC others(87): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0010 | a0010c0012 | a0010c0012t0005 | a0010c0012t0005g0067 | 1 | 130 | 0.0077 | 94 | c.558 others(113): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7449141 | C | CTCCCTCC others(87): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0165 | 1 | 168 | 0.0060 | 94 | c.548 others(113): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914235 | T | TGTGTTTT others(87): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 420 | 0.0071 | 94 | c.*35 others(105): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2550 | chr9 | TogoVar | |||||||
SPON2_chr4_1161932_1177583 | 1165267 | G | GGGGGCCC others(87): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 432 | 0.0023 | 94 | c.*22 others(105): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 1664 | chr4 | TogoVar |