| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SLC6A6_chr3_14397606_14494349 | 14436531 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 376 | 0.0027 | -27 | c.-11 others(44): Show |
SLC6A6 | ENSG00000131389.18 | transcript | ENST00000622186.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SLC7A7_chr14_22768222_22820435 | 22795426 | CTTTCTTT others(20): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01069.hp1 others(9): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0004t0007others(2): Show | a0001c0002t0002g0254a0001c0002t0002g0297a0001c0002t0002g0339others(9): Show | 12 | 402 | 0.0299 | -27 | c.500 others(46): Show |
SLC7A7 | ENSG00000155465.21 | transcript | ENST00000674313.1 | protein_coding | 2/9 | chr14 | TogoVar | ||||||
| SLC9A7_chrX_46594251_46764118 | 46633336 | TAAAAAAA others(20): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG02257.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0021a0001c0001t0001g0064a0001c0001t0001g0152others(2): Show | 5 | 250 | 0.0200 | -27 | c.167 others(46): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 13/16 | chrX | TogoVar | ||||||
| SLC9C1_chr3_112135898_112299216 | 112150810 | AAATACAT others(20): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0021 | 1 | 372 | 0.0027 | -27 | c.352 others(46): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
| SLC9C1_chr3_112135898_112299216 | 112150813 | TACATATA others(20): Show |
T | intron_variant | MODIFIER | HG01515.hp1 HG01934.hp2 HG02004.hp1 others(23): Show |
a0001a0003a0015 | a0001c0002a0003c0003a0015c0022 | a0001c0002t0001a0003c0003t0001a0003c0003t0002others(1): Show | a0001c0002t0001g0004a0001c0002t0001g0050a0001c0002t0001g0051others(22): Show | 26 | 372 | 0.0699 | -27 | c.352 others(46): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
| SLC9C1_chr3_112135898_112299216 | 112150814 | ACATATAC others(20): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02027.hp1 others(27): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0003 | a0001c0002t0001a0002c0001t0001a0003c0003t0001others(2): Show | a0001c0002t0001g0089a0001c0002t0001g0096a0001c0002t0001g0157others(25): Show | 30 | 372 | 0.0807 | -27 | c.352 others(46): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
| SLCO3A1_chr15_91848708_92170903 | 92047062 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG02976.hp1 NA18980.hp2 NA19007.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0082a0001c0001t0002g0151a0001c0001t0003g0014others(5): Show | 8 | 190 | 0.0421 | -27 | c.647 others(46): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| SLCO6A1_chr5_102366774_102504001 | 102382936 | GTGTGTAT others(20): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0018a0001c0001t0001g0283a0001c0001t0001g0284others(5): Show | 8 | 342 | 0.0234 | -27 | c.201 others(46): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 12/13 | chr5 | TogoVar | ||||||
| SLFN12L_chr17_35459254_35542678 | 35539333 | AAAGAAAG others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG04199.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0016a0001c0002t0017a0001c0002t0082others(2): Show | a0001c0001t0016g0164a0001c0002t0017g0123a0001c0002t0082g0056others(2): Show | 5 | 360 | 0.0139 | -27 | c.-23 others(38): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1656 | chr17 | TogoVar | ||||||
| SLFN14_chr17_35538985_35565819 | 35539333 | AAAGAAAG others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG04199.hp2 others(2): Show |
a0001a0003 | a0001c0006a0003c0003 | a0001c0006t0021a0003c0003t0004a0003c0003t0039 | a0001c0006t0021g0106a0003c0003t0004g0003a0003c0003t0039g0088 | 5 | 428 | 0.0117 | -27 | c.*88 others(38): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 4651 | chr17 | TogoVar | ||||||
| SLFN5_chr17_35238072_35278655 | 35240416 | GAAAAGGA others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 446 | 0.0022 | -27 | c.-27 others(38): Show |
SLFN5 | ENSG00000166750.10 | transcript | ENST00000299977.9 | protein_coding | 2655 | chr17 | TogoVar | ||||||
| SLIT2_chr4_20246905_20625561 | 20291472 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00738.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0106others(22): Show | 25 | 230 | 0.1087 | -27 | c.395 others(46): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLIT2_chr4_20246905_20625561 | 20291474 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02698.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0002a0001c0004t0002a0001c0005t0033 | a0001c0002t0002g0080a0001c0004t0002g0124a0001c0005t0033g0134 | 3 | 230 | 0.0130 | -27 | c.395 others(46): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLIT2_chr4_20246905_20625561 | 20291480 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0052 | 1 | 230 | 0.0044 | -27 | c.395 others(46): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SLIT3_chr5_168656740_169306139 | 168907925 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 132 | 0.0076 | -27 | c.414 others(46): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168926692 | GGACTTGG others(20): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(45): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0004others(33): Show | a0001c0001t0001a0001c0001t0025a0001c0003t0017others(39): Show | a0001c0001t0001g0010a0001c0001t0001g0034a0001c0001t0001g0090others(45): Show | 48 | 132 | 0.3636 | -27 | c.414 others(46): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SMARCA2_chr9_2010347_2198620 | 2186566 | TTAGCTCA others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02809.hp2 NA19058.hp2 others(1): Show |
a0001a0002a0003 | a0001c0008a0002c0005a0003c0006 | a0001c0008t0001a0002c0005t0001a0003c0006t0001 | a0001c0008t0001g0093a0002c0005t0001g0068a0002c0005t0001g0133others(1): Show | 4 | 316 | 0.0127 | -27 | c.459 others(44): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 32/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SMCO1_chr3_196501879_196520346 | 196515983 | GATAGGAT others(20): Show |
G | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 398 | 0.0025 | -27 | c.-80 others(36): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 638 | chr3 | TogoVar | ||||||
| SMCO4_chr11_93473472_93548391 | 93514377 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 412 | 0.0024 | -27 | c.-15 others(48): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
| SMG9_chr19_43722983_43759962 | 43725002 | CTTTTTTT others(20): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 320 | 0.0031 | -27 | c.*65 others(38): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 2980 | chr19 | TogoVar | ||||||
| SMIM10L1_chr12_11166194_11181016 | 11168200 | CGAAAGAA others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 397 | 0.0025 | -27 | c.-31 others(38): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2993 | chr12 | TogoVar | ||||||
| SMIM10L1_chr12_11166194_11181016 | 11168377 | AAAGAAAG others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0000 | 1 | 397 | 0.0025 | -27 | c.-29 others(38): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2816 | chr12 | TogoVar | ||||||
| SMIM21_chr18_75404476_75432703 | 75412805 | TTGATCGA others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 2 | 432 | 0.0046 | -27 | c.261 others(44): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| SMIM24_chr19_3468986_3485525 | 3484184 | GGTGGGCG others(20): Show |
G | upstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 422 | 0.0024 | -27 | c.-37 others(38): Show |
SMIM24 | ENSG00000095932.7 | transcript | ENST00000215531.6 | protein_coding | 3660 | chr19 | TogoVar | ||||||
| SMIM46_chr19_14107324_14117476 | 14109958 | AAAAAAAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0000 | a0000c0003 | a0000c0003t0000 | a0000c0003t0000g0000 | 1 | 368 | 0.0027 | -27 | c.*23 others(38): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2365 | chr19 | TogoVar | ||||||
| SMOC1_chr14_69874416_70037366 | 69924744 | AGTAGGGG others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0020a0001c0001t0001g0028a0001c0001t0001g0029others(99): Show | 102 | 270 | 0.3778 | -27 | c.100 others(46): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SMPD2_chr6_109435724_109448919 | 109448106 | ACACACAC others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 | 1 | 438 | 0.0023 | -27 | c.*42 others(38): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 4188 | chr6 | TogoVar | ||||||
| SMPX_chrX_21700978_21763116 | 21731455 | AATGTGTG others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02080.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(15): Show | 18 | 289 | 0.0623 | -27 | c.*14 others(44): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | ||||||
| SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp1 NA18969.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0056a0001c0002t0002g0185 | 2 | 442 | 0.0045 | -27 | c.400 others(44): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SMU1_chr9_33036765_33081674 | 33078818 | CCTCTATT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 418 | 0.0024 | -27 | c.-22 others(38): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 2145 | chr9 | TogoVar | ||||||
| SMURF1_chr7_99022440_99149108 | 99143366 | TGCAAGGG others(20): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 264 | 0.0038 | -27 | c.55+ others(40): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245844827 | CCAATCAC others(20): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0002g0023others(7): Show | 10 | 150 | 0.0667 | -27 | c.107 others(48): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 246362435 | CCCACGGT others(20): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(86): Show | 89 | 150 | 0.5933 | -27 | c.165 others(44): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
| SMYD4_chr17_1774485_1834902 | 1795421 | ATCTATCT others(20): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0203 | 1 | 390 | 0.0026 | -27 | c.153 others(46): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
| SNAP29_chr22_20854007_20896214 | 20874213 | TACAGTGA others(20): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02055.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0030a0001c0001t0050 | a0001c0001t0010g0016a0001c0001t0010g0180a0001c0001t0010g0182others(6): Show | 10 | 382 | 0.0262 | -27 | c.434 others(44): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| SNAP91_chr6_83547885_83714101 | 83574844 | AAGAATGG others(20): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(56): Show |
a0001a0003a0007 | a0001c0002a0001c0003a0001c0009others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0015others(4): Show | a0001c0002t0001g0057a0001c0002t0001g0159a0001c0002t0001g0160others(56): Show | 59 | 366 | 0.1612 | -27 | c.244 others(44): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 26/29 | chr6 | TogoVar | ||||||
| SNCB_chr5_176615082_176635534 | 176616839 | GACGAACA others(20): Show |
G | downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 436 | 0.0023 | -27 | c.*39 others(38): Show |
SNCB | ENSG00000074317.11 | transcript | ENST00000393693.7 | protein_coding | 3242 | chr5 | TogoVar | ||||||
| SND1_chr7_127647194_128097593 | 127684879 | TAATGTAC others(20): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0259 | 1 | 262 | 0.0038 | -27 | c.79- others(42): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SNED1_chr2_240993618_241100568 | 241011114 | GTCTCCTG others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(60): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0295a0001c0001t0002g0005a0001c0001t0002g0252others(60): Show | 63 | 344 | 0.1831 | -27 | c.213 others(46): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNED1_chr2_240993618_241100568 | 241011175 | GGGTCTCC others(20): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02615.hp1 others(5): Show |
a0001a0002a0009 | a0001c0016a0002c0010a0002c0011others(5): Show | a0001c0016t0003a0002c0010t0014a0002c0011t0015others(5): Show | a0001c0016t0003g0216a0002c0010t0014g0038a0002c0011t0015g0036others(5): Show | 8 | 344 | 0.0233 | -27 | c.213 others(46): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNED1_chr2_240993618_241100568 | 241011211 | GGGTCTCC others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(61): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(32): Show | a0001c0001t0001g0295a0001c0001t0002g0005a0001c0001t0002g0252others(61): Show | 64 | 344 | 0.1861 | -27 | c.213 others(46): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNRNP25_chr16_48828_62669 | 52446 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 424 | 0.0024 | -27 | c.-15 others(38): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1381 | chr16 | TogoVar | ||||||
| SNTB2_chr16_69182164_69314052 | 69292407 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0001g0172others(5): Show | 8 | 218 | 0.0367 | -27 | c.134 others(46): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SNTB2_chr16_69182164_69314052 | 69292421 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 218 | 0.0046 | -27 | c.134 others(46): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1262667 | AGTCCAGA others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(40): Show |
a0001a0007a0009others(2): Show | a0001c0001a0001c0002a0007c0016others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0024a0001c0001t0001g0035a0001c0001t0001g0038others(40): Show | 43 | 190 | 0.2263 | -27 | c.107 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1272544 | CAGAAAGG others(20): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 190 | 0.0053 | -27 | c.128 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1272591 | GCAGGTGT others(20): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0014 | 1 | 190 | 0.0053 | -27 | c.128 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1272679 | TAGAAAGG others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
a0001a0002a0007others(7): Show | a0001c0001a0001c0002a0002c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(17): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0024others(82): Show | 85 | 190 | 0.4474 | -27 | c.128 others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX16_chr8_81794583_81847185 | 81842534 | GAAAACGA others(20): Show |
G | upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 306 | 0.0033 | -27 | c.-53 others(36): Show |
SNX16 | ENSG00000104497.15 | transcript | ENST00000345957.9 | protein_coding | 350 | chr8 | TogoVar | ||||||
| SNX24_chr5_122840613_123014205 | 122925230 | CCCTCTTC others(20): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp1 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0168others(107): Show | 110 | 330 | 0.3333 | -27 | c.61- others(44): Show |
SNX24 | ENSG00000064652.11 | transcript | ENST00000261369.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |