view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEPHS1_chr10_13312428_13353293 | 13350966 | TATGGCTC others(35): Show |
T | upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 378 | 0.0027 | -42 | c.-30 others(53): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 2674 | chr10 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449469 | CTTTCTTT others(35): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 452 | 0.0022 | -42 | c.-3- others(55): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINB5_chr18_63471958_63510085 | 63497056 | GGCCTGTG others(35): Show |
G | intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0009 | a0003c0009t0020 | a0003c0009t0020g0252 | 1 | 410 | 0.0024 | -42 | c.568 others(59): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 5/6 | chr18 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101140240 | GAAAGAAA others(35): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0112a0001c0001t0015g0301 | 2 | 436 | 0.0046 | -42 | c.*27 others(53): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 994 | chr7 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44806810 | TACAGGCA others(35): Show |
T | intron_variant | MODIFIER | NA19000.hp1 | a0006 | a0006c0007 | a0006c0007t0023 | a0006c0007t0023g0062 | 1 | 140 | 0.0071 | -42 | c.487 others(61): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26274316 | ATAGGACC others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0013a0001c0001t0002g0012a0001c0001t0006g0039others(38): Show | 41 | 240 | 0.1708 | -42 | c.95- others(59): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEZ6L_chr22_26164462_26388596 | 26294891 | TGCTTGCT others(35): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 |
a0002 | a0002c0018 | a0002c0018t0014 | a0002c0018t0014g0105a0002c0018t0014g0125 | 2 | 240 | 0.0083 | -42 | c.969 others(57): Show |
SEZ6L | ENSG00000100095.19 | transcript | ENST00000248933.11 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
SF3A2_chr19_2231824_2253655 | 2242099 | GGCCACTG others(35): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0065a0001c0001t0001g0179a0001c0001t0002g0008others(2): Show | 10 | 420 | 0.0238 | -42 | c.-37 others(59): Show |
SF3A2 | ENSG00000104897.10 | transcript | ENST00000221494.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SF3A2_chr19_2231824_2253655 | 2242185 | CCACTGTG others(35): Show |
C | intron_variant | MODIFIER | NA18960.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173a0001c0001t0001g0178 | 2 | 420 | 0.0048 | -42 | c.-37 others(59): Show |
SF3A2 | ENSG00000104897.10 | transcript | ENST00000221494.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28564601 | ATGTGTAT others(35): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 346 | 0.0029 | -42 | c.-16 others(61): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG01981.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0001g0086a0001c0001t0001g0117a0001c0001t0004g0009others(9): Show | 12 | 312 | 0.0385 | -42 | c.-23 others(63): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222556549 | CCTCACTC others(35): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0071a0001c0003t0085a0001c0003t0086others(1): Show | a0001c0003t0071g0160a0001c0003t0085g0205a0001c0003t0086g0204others(1): Show | 4 | 272 | 0.0147 | -42 | c.649 others(59): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3D19_chr4_151115281_151330605 | 151150224 | TATATACA others(35): Show |
T | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 282 | 0.0036 | -42 | c.175 others(59): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 9/19 | chr4 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103810910 | ACACACAC others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00597.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0004a0001c0001t0014a0001c0001t0030others(36): Show | a0001c0001t0004g0021a0001c0001t0014g0156a0001c0001t0030g0024others(43): Show | 46 | 250 | 0.1840 | -42 | c.73- others(57): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 422033 | TGAGACCC others(35): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(128): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0044others(124): Show | 131 | 212 | 0.6179 | -42 | c.162 others(58): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 11/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 458757 | CGGGGAGG others(35): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0169 | 1 | 212 | 0.0047 | -42 | c.468 others(59): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182927050 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01123.hp1 HG01884.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006 | a0001c0001t0001a0001c0003t0001a0003c0006t0001 | a0001c0001t0001g0118a0001c0003t0001g0065a0001c0003t0001g0070others(10): Show | 13 | 302 | 0.0431 | -42 | c.118 others(61): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11526880 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0009t0048 | a0001c0001t0004g0067a0001c0009t0048g0188 | 2 | 192 | 0.0104 | -42 | c.896 others(61): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943306 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0137 | 1 | 214 | 0.0047 | -42 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943310 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0005 | a0001c0001t0001g0031a0001c0001t0001g0092a0001c0001t0002g0177others(1): Show | 4 | 214 | 0.0187 | -42 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12943316 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0101 | 1 | 214 | 0.0047 | -42 | c.691 others(61): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44266536 | GTGTGTGT others(35): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0026a0001c0046a0001c0348others(1): Show | a0001c0026t0091a0001c0026t0092a0001c0046t0068others(2): Show | a0001c0026t0091g0304a0001c0026t0092g0305a0001c0046t0068g0248others(2): Show | 5 | 380 | 0.0132 | -42 | c.600 others(61): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SIK3_chr11_116838402_117103428 | 117056536 | GATAGATA others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01099.hp2 others(37): Show |
a0001a0002a0008others(1): Show | a0001c0002a0001c0026a0002c0004others(2): Show | a0001c0002t0003a0001c0002t0029a0001c0026t0003others(3): Show | a0001c0002t0003g0001a0001c0002t0003g0002a0001c0002t0003g0003others(37): Show | 40 | 366 | 0.1093 | -42 | c.273 others(61): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1/24 | chr11 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100383529 | CATATATA others(35): Show |
C | downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 320 | 0.0031 | -42 | c.*67 others(53): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 1479 | chr6 | TogoVar | |||||||
SIM1_chr6_100380009_100469921 | 100412595 | GAAAGAAA others(35): Show |
G | intron_variant | MODIFIER | HG04204.hp1 NA18966.hp1 NA18973.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0030a0002c0002t0001g0047a0002c0002t0007g0019others(2): Show | 5 | 320 | 0.0156 | -42 | c.116 others(61): Show |
SIM1 | ENSG00000112246.10 | transcript | ENST00000369208.8 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572688 | TACATACA others(35): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02896.hp1 others(1): Show |
a0001a0008 | a0001c0002a0001c0003a0008c0014 | a0001c0002t0001a0001c0003t0010a0008c0014t0016 | a0001c0002t0001g0195a0001c0002t0001g0196a0001c0003t0010g0282others(1): Show | 4 | 292 | 0.0137 | -42 | c.-27 others(61): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIX5_chr19_45759785_45774252 | 45770204 | CCAGCAGC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -42 | c.-14 others(53): Show |
SIX5 | ENSG00000177045.11 | transcript | ENST00000317578.7 | protein_coding | 953 | chr19 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48224046 | GGAGGAGG others(35): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01257.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0233a0001c0001t0001g0234others(24): Show | 27 | 292 | 0.0925 | -42 | c.281 others(61): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2281813 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | NA18947.hp2 NA19088.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0059 | a0001c0001t0001g0304a0001c0001t0007g0281a0001c0001t0059g0244 | 3 | 330 | 0.0091 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281942 | GGACGCCT others(35): Show |
G | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0238 | 1 | 330 | 0.0030 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2281985 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0061 | 1 | 330 | 0.0030 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282201 | GGACGCCT others(35): Show |
G | intron_variant | MODIFIER | NA19074.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0246a0001c0001t0027g0245 | 2 | 330 | 0.0061 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282244 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02071.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0010a0001c0001t0001g0030a0001c0001t0001g0132others(12): Show | 15 | 330 | 0.0455 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282287 | GGACGCCT others(35): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0212 | 1 | 330 | 0.0030 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2282330 | GGACGCCC others(35): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0003g0251a0001c0001t0005g0161a0001c0001t0005g0198others(4): Show | 7 | 330 | 0.0212 | -42 | c.970 others(61): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLA2_chr20_36607318_36651196 | 36609177 | ACACACAC others(35): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0114 | 2 | 360 | 0.0056 | -42 | c.*46 others(53): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3140 | chr20 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1707225 | CAAAAAAA others(35): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01981.hp2 HG02080.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0056others(11): Show | 16 | 376 | 0.0426 | -42 | c.177 others(59): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1047018 | GGTGTGTG others(35): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp1 NA19074.hp1 NA19091.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0012a0002c0002t0008 | a0001c0007t0012g0001a0002c0002t0008g0099a0002c0002t0008g0100 | 3 | 118 | 0.0254 | -42 | c.*53 others(53): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 3365 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1069990 | CGCAGCCC others(35): Show |
C | intron_variant | MODIFIER | HG01517.hp2 HG03516.hp2 NA18954.hp1 others(1): Show |
a0001a0002 | a0001c0005a0001c0007a0002c0002others(1): Show | a0001c0005t0002a0001c0007t0006a0002c0002t0002others(1): Show | a0001c0005t0002g0050a0001c0007t0006g0016a0002c0002t0002g0040others(1): Show | 4 | 118 | 0.0339 | -42 | c.224 others(61): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1070045 | GAGCCCCC others(35): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0093 | 1 | 118 | 0.0085 | -42 | c.224 others(61): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072658 | GAGCCCCC others(35): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0003a0002c0004t0001 | a0001c0001t0001g0094a0001c0001t0001g0103a0001c0003t0003g0014others(1): Show | 4 | 118 | 0.0339 | -42 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073078 | GAGCCCCC others(35): Show |
G | intron_variant | MODIFIER | HG04204.hp1 NA18942.hp2 NA19074.hp2 |
a0001a0002 | a0001c0001a0001c0035a0002c0011 | a0001c0001t0001a0001c0035t0001a0002c0011t0002 | a0001c0001t0001g0113a0001c0035t0001g0054a0002c0011t0002g0031 | 3 | 118 | 0.0254 | -42 | c.224 others(59): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC16A8_chr22_38073137_38089184 | 38086345 | GTGCGGGA others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00423.hp2 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0002c0002t0001g0005others(16): Show | 90 | 452 | 0.1991 | -42 | c.-27 others(53): Show |
SLC16A8 | ENSG00000100156.12 | transcript | ENST00000681075.2 | protein_coding | 2162 | chr22 | TogoVar | |||||||
SLC17A6_chr11_22333381_22384503 | 22339143 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0039a0001c0001t0001g0051others(28): Show | 33 | 450 | 0.0733 | -42 | c.86+ others(55): Show |
SLC17A6 | ENSG00000091664.9 | transcript | ENST00000263160.4 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160257824 | AATAGTGC others(35): Show |
A | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 310 | 0.0032 | -42 | c.414 others(57): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 1/10 | chr6 | TogoVar | |||||||
SLC22A4_chr5_132289394_132349190 | 132306384 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(44): Show | 73 | 394 | 0.1853 | -42 | c.394 others(59): Show |
SLC22A4 | ENSG00000197208.6 | transcript | ENST00000200652.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19513166 | ATATATAT others(35): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03516.hp2 NA20300.hp1 |
a0001 | a0001c0008 | a0001c0008t0087a0001c0008t0088 | a0001c0008t0087g0130a0001c0008t0088g0131 | 2 | 188 | 0.0106 | -42 | c.*29 others(53): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 11/11 | 2945 | chr9 | TogoVar | ||||||
SLC24A2_chr9_19502455_19794037 | 19711497 | ATTATGAG others(35): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0079 | a0001c0002t0079g0052 | 1 | 188 | 0.0053 | -42 | c.930 others(61): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19506705 | GGATGATT others(35): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0008 | a0001c0001t0008g0148a0002c0002t0008g0140 | 2 | 160 | 0.0125 | -42 | c.272 others(59): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 2/16 | chr20 | TogoVar | |||||||
SLC25A21_chr14_36672921_37177606 | 36958131 | TAAGCCAT others(35): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0141a0001c0001t0004g0124a0001c0002t0001g0039 | 3 | 164 | 0.0183 | -42 | c.71- others(59): Show |
SLC25A21 | ENSG00000183032.12 | transcript | ENST00000331299.6 | protein_coding | 1/9 | chr14 | TogoVar |