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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SKA3_chr13_21148595_21181552 | 21150909 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01515.hp1 HG02135.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(6): Show |
11 | 42 | 0.2619 | 13 | c.*42 others(24): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 2685 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48204973 | T | TTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | 166 | 0.0602 | 13 | c.281 others(32): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48264783 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0062 |
2 | 288 | 0.0069 | 13 | c.281 others(32): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48413514 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0233 a0001c0001t0001g0234 |
3 | 273 | 0.0110 | 13 | c.46+ others(30): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01928.hp1 HG02258.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0043 a0001c0001t0001g0095 a0003c0005t0002g0293 |
3 | 27 | 0.1111 | 13 | c.796 others(30): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26857310 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0020a0004c0004t0002 | a0001c0001t0020g0100 a0004c0004t0002g0115 |
2 | 11 | 0.1818 | 13 | c.68- others(28): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26862417 | G | GTGTAATC others(6): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0005 | 1 | 294 | 0.0034 | 13 | c.67+ others(28): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26867357 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA18977.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0009 | a0001c0001t0004g0110 a0002c0002t0009g0224 |
2 | 18 | 0.1111 | 13 | c.-29 others(24): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 2768 | chr7 | TogoVar | |||||||
SKIL_chr3_170352715_170401835 | 170365752 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0088 | a0002c0002t0088g0309 | 1 | 47 | 0.0213 | 13 | c.109 others(32): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2260535 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0001g0300 a0001c0001t0006g0301 a0001c0001t0009g0297 others(1): Show |
4 | 59 | 0.0678 | 13 | c.969 others(32): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKOR1_chr15_67820509_67839582 | 67831903 | C | CCGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 359 | 0.0056 | 13 | c.258 others(30): Show |
SKOR1 | ENSG00000188779.12 | transcript | ENST00000380035.3 | protein_coding | 5/8 | chr15 | TogoVar | |||||||
SKOR2_chr18_47201169_47256660 | 47245478 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00621.hp2 others(17): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(1): Show | a0002c0002t0002g0006 a0002c0002t0002g0026 a0002c0002t0002g0160 others(10): Show |
20 | 116 | 0.1724 | 13 | c.267 others(27): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
SKP1_chr5_134143935_134181950 | 134163212 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0260 a0001c0001t0030g0261 |
2 | 149 | 0.0134 | 13 | c.172 others(30): Show |
SKP1 | ENSG00000113558.19 | transcript | ENST00000353411.11 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77692746 | A | ACATTTGA others(6): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228 | 1 | 298 | 0.0034 | 13 | c.-51 others(24): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 4940 | chr13 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48342711 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0012 | a0001c0003t0006g0212 a0001c0003t0006g0213 a0001c0003t0012g0214 others(1): Show |
4 | 27 | 0.1481 | 13 | c.389 others(28): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48368051 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 | 1 | 42 | 0.0238 | 13 | c.390 others(30): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48393386 | T | TTTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0215 | 1 | 46 | 0.0217 | 13 | c.136 others(32): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF6_chr1_160480036_160528255 | 160484211 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 313 | 0.0032 | 13 | c.*24 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 824 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 HG02602.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0181 a0001c0001t0001g0245 others(1): Show |
4 | 158 | 0.0253 | 13 | c.*24 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0049 others(1): Show |
4 | 158 | 0.0253 | 13 | c.*24 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484243 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 155 | 0.0065 | 13 | c.*24 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 792 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484244 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(6): Show |
9 | 346 | 0.0260 | 13 | c.*24 others(24): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 791 | chr1 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133070029 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02895.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0009a0002c0002t0017 | a0002c0002t0002g0086 a0002c0002t0009g0016 a0002c0002t0017g0017 |
3 | 52 | 0.0577 | 13 | c.-41 others(30): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146335250 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02293.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0063 a0001c0001t0006g0088 |
2 | 205 | 0.0098 | 13 | c.436 others(30): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146365371 | T | TAAAAATC others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 242 | 0.0041 | 13 | c.436 others(32): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC11A1_chr2_218377273_218401894 | 218399965 | C | CGGCCGCG others(6): Show |
downstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 374 | 0.0027 | 13 | c.*49 others(24): Show |
SLC11A1 | ENSG00000018280.17 | transcript | ENST00000233202.11 | protein_coding | 3072 | chr2 | TogoVar | |||||||
SLC11A2_chr12_50980992_51031384 | 50993992 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01168.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0175 a0001c0002t0003g0182 a0001c0002t0003g0184 others(3): Show |
6 | 19 | 0.3158 | 13 | c.107 others(30): Show |
SLC11A2 | ENSG00000110911.17 | transcript | ENST00000262052.9 | protein_coding | 11/15 | chr12 | TogoVar | |||||||
SLC11A2_chr12_50980992_51031384 | 51002638 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01106.hp1 HG01123.hp1 others(32): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0224 others(31): Show |
35 | 57 | 0.6140 | 13 | c.429 others(30): Show |
SLC11A2 | ENSG00000110911.17 | transcript | ENST00000262052.9 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48239515 | A | AAAATAAA others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0020 | 1 | 81 | 0.0123 | 13 | c.121 others(32): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48289429 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18995.hp1 NA19083.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0060 a0001c0002t0001g0188 |
2 | 171 | 0.0117 | 13 | c.287 others(30): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | chr15 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48302626 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 72 | 0.0139 | 13 | c.316 others(30): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128126966 | A | ATATATAA others(6): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 74 | 0.0135 | 13 | c.104 others(32): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128126966 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG01928.hp1 others(12): Show |
a0001a0005 | a0001c0002a0005c0008 | a0001c0002t0001a0001c0002t0004a0001c0002t0008others(3): Show | a0001c0002t0001g0007 a0001c0002t0001g0061 a0001c0002t0001g0062 others(11): Show |
15 | 88 | 0.1705 | 13 | c.104 others(32): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56901345 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03540.hp2 others(3): Show |
a0001 | a0001c0003a0001c0029 | a0001c0003t0003a0001c0003t0005a0001c0003t0014others(1): Show | a0001c0003t0003g0351 a0001c0003t0005g0270 a0001c0003t0005g0352 others(3): Show |
6 | 402 | 0.0149 | 13 | c.272 others(32): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56901347 | C | CTCTTTTT others(6): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 154 | 0.0065 | 13 | c.272 others(32): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56901347 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01433.hp1 others(5): Show |
a0001a0002 | a0001c0008a0002c0009a0002c0011 | a0001c0008t0009a0001c0008t0010a0002c0009t0002others(2): Show | a0001c0008t0009g0009 a0001c0008t0009g0356 a0001c0008t0010g0272 others(4): Show |
8 | 161 | 0.0497 | 13 | c.272 others(32): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A6_chr15_34224784_34342781 | 34285713 | T | TACACACA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 others(4): Show |
7 | 196 | 0.0357 | 13 | c.272 others(32): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34310005 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02300.hp1 HG04199.hp2 |
a0001 | a0001c0003 | a0001c0003t0027a0001c0003t0034 | a0001c0003t0027g0006 a0001c0003t0034g0172 |
2 | 259 | 0.0077 | 13 | c.271 others(32): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34323940 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0055 | a0001c0003t0055g0260 | 1 | 186 | 0.0054 | 13 | c.271 others(32): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34341257 | G | GAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02056.hp1 HG02451.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0002t0002a0001c0003t0027others(3): Show | a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 others(7): Show |
10 | 141 | 0.0709 | 13 | c.-39 others(24): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 3477 | chr15 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070391 | G | GCCCCCCA others(6): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0008 | a0008c0036 | a0008c0036t0001 | a0008c0036t0001g0097 | 1 | 61 | 0.0164 | 13 | c.224 others(32): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1071990 | A | AAGCCCCC others(6): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0008 | a0008c0036 | a0008c0036t0001 | a0008c0036t0001g0097 | 1 | 118 | 0.0085 | 13 | c.224 others(32): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1112341 | G | GCCCCCCT others(6): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0022 | 1 | 68 | 0.0147 | 13 | c.-35 others(22): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 279 | chr5 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125173468 | A | AAAAAAAC others(6): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 360 | 0.0028 | 13 | c.622 others(30): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125208800 | A | AGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0005 | a0005c0005 | a0005c0005t0026 | a0005c0005t0026g0004 | 1 | 360 | 0.0028 | 13 | c.51+ others(28): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
SLC13A3_chr20_46552828_46656459 | 46555387 | C | CACACACA others(6): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 a0001c0001t0001g0290 |
2 | 375 | 0.0053 | 13 | c.*46 others(24): Show |
SLC13A3 | ENSG00000158296.14 | transcript | ENST00000279027.9 | protein_coding | 2440 | chr20 | TogoVar | |||||||
SLC13A5_chr17_6679719_6718369 | 6693178 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0094 a0001c0001t0012g0288 |
2 | 67 | 0.0299 | 13 | c.115 others(28): Show |
SLC13A5 | ENSG00000141485.17 | transcript | ENST00000433363.7 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
SLC14A2_chr18_45610476_45688688 | 45648195 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 HG03209.hp2 |
a0001 | a0001c0002a0001c0023 | a0001c0002t0008a0001c0023t0003 | a0001c0002t0008g0311 a0001c0002t0008g0312 a0001c0023t0003g0374 |
3 | 87 | 0.0345 | 13 | c.135 others(32): Show |
SLC14A2 | ENSG00000132874.15 | transcript | ENST00000255226.11 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SLC14A2_chr18_45610476_45688688 | 45665688 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0185 | 1 | 86 | 0.0116 | 13 | c.147 others(30): Show |
SLC14A2 | ENSG00000132874.15 | transcript | ENST00000255226.11 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SLC15A1_chr13_98678801_98757672 | 98728977 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18747.hp2 NA18948.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0350 a0001c0001t0002g0226 a0001c0001t0002g0244 others(4): Show |
7 | 58 | 0.1207 | 13 | c.5-2 others(26): Show |
SLC15A1 | ENSG00000088386.17 | transcript | ENST00000376503.10 | protein_coding | 1/22 | chr13 | TogoVar |