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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRPK1_chr6_35827966_35926098 | 35880742 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01070.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0232 | 2 | 342 | 0.0059 | 19 | c.478 others(36): Show |
SRPK1 | ENSG00000096063.16 | transcript | ENST00000373825.7 | protein_coding | 6/15 | chr6 | TogoVar | ||||||
SRPK2_chr7_105111374_105393921 | 105159448 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 282 | 0.0036 | 19 | c.621 others(36): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | ||||||
SRRD_chr22_26478877_26499658 | 26490559 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 448 | 0.0045 | 19 | c.764 others(34): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SRRM1_chr1_24638302_24678281 | 24667965 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0294 | 1 | 352 | 0.0028 | 19 | c.173 others(38): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SRRM1_chr1_24638302_24678281 | 24676051 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 352 | 0.0028 | 19 | c.*37 others(30): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2771 | chr1 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76221359 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19085.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0282a0002c0006t0001g0283 | 2 | 324 | 0.0062 | 19 | c.-39 others(38): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SRRM3_chr7_76196896_76292287 | 76224467 | T | TGGTCTCT others(12): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0313 | 1 | 324 | 0.0031 | 19 | c.-39 others(38): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SRRM3_chr7_76196896_76292287 | 76277746 | G | GAAAGAAA others(12): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG01934.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0175a0001c0001t0001g0319a0001c0001t0002g0248others(8): Show | 11 | 324 | 0.0340 | 19 | c.100 others(38): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SRSF3_chr6_36589362_36610600 | 36596574 | C | CGGGGGGG others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 NA19067.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0188a0001c0001t0002g0189a0001c0001t0025g0190 | 3 | 382 | 0.0079 | 19 | c.-2- others(32): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01256.hp1 HG01257.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0032 | a0001c0001t0008g0000a0001c0001t0032g0000 | 11 | 402 | 0.0274 | 19 | c.*23 others(30): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
SRXN1_chr20_641615_658200 | 646515 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG02886.hp1 HG03453.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0005g0001others(2): Show | 8 | 422 | 0.0190 | 19 | c.*21 others(30): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 99 | chr20 | TogoVar | ||||||
SS18L1_chr20_62138769_62187514 | 62146605 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0010a0001c0002t0014a0001c0012t0004 | a0001c0002t0010g0283a0001c0002t0014g0284a0001c0012t0004g0291 | 3 | 316 | 0.0095 | 19 | c.69+ others(34): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SSBP3_chr1_54220432_54411394 | 54235448 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0188a0001c0001t0015g0016 | 2 | 280 | 0.0071 | 19 | c.927 others(36): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 14/17 | chr1 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 280 | 0.0036 | 19 | c.277 others(38): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54337485 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 280 | 0.0036 | 19 | c.277 others(38): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
SSBP3_chr1_54220432_54411394 | 54386683 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp1 HG01256.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0115a0001c0001t0002g0030a0001c0001t0002g0069others(11): Show | 14 | 280 | 0.0500 | 19 | c.276 others(38): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
SSB_chr2_169793871_169817064 | 169800534 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0135 | 1 | 426 | 0.0024 | 19 | c.-9- others(32): Show |
SSB | ENSG00000138385.16 | transcript | ENST00000260956.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495232 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19089.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0336a0004c0004t0001g0337 | 2 | 412 | 0.0049 | 19 | c.138 others(36): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18970.hp1 NA19003.hp2 NA19068.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0290a0004c0004t0001g0325a0004c0004t0001g0377others(1): Show | 4 | 412 | 0.0097 | 19 | c.138 others(36): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0006 | a0006c0024 | a0006c0024t0001 | a0006c0024t0001g0086 | 1 | 412 | 0.0024 | 19 | c.138 others(36): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
SSC5D_chr19_55483436_55524099 | 55495234 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 |
a0001a0008 | a0001c0010a0008c0077 | a0001c0010t0001a0008c0077t0001 | a0001c0010t0001g0123a0008c0077t0001g0310 | 2 | 412 | 0.0049 | 19 | c.138 others(36): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | chr19 | TogoVar | ||||||
SSH2_chr17_29620938_29935228 | 29913347 | A | AAAAAATT others(12): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 232 | 0.0043 | 19 | c.63+ others(36): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
SSTR2_chr17_73160010_73181633 | 73171921 | C | CAAAAAAA others(12): Show |
3_prime_UTR_variant | MODIFIER | NA18943.hp1 NA18948.hp1 NA18974.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0063 | a0001c0001t0023g0006a0001c0001t0023g0034a0001c0001t0023g0109others(1): Show | 6 | 454 | 0.0132 | 19 | c.*15 others(30): Show |
SSTR2 | ENSG00000180616.9 | transcript | ENST00000357585.4 | protein_coding | 2/2 | 1529 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
SSU72L6_chr7_124471317_124482664 | 124479016 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0000a0001c0001t0002g0000 | 35 | 466 | 0.0751 | 19 | c.*20 others(30): Show |
SSU72L6 | ENSG00000230268.4 | transcript | ENST00000473520.2 | protein_coding | 1353 | chr7 | TogoVar | ||||||
SSU72_chr1_1536673_1579863 | 1540128 | G | GGGGGAGC others(12): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 386 | 0.0026 | 19 | c.*19 others(30): Show |
SSU72 | ENSG00000160075.12 | transcript | ENST00000291386.4 | protein_coding | 1544 | chr1 | TogoVar | ||||||
SSX5_chrX_48181220_48201795 | 48198559 | G | GGAAGGAA others(12): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 326 | 0.0031 | 19 | c.-18 others(30): Show |
SSX5 | ENSG00000165583.16 | transcript | ENST00000347757.6 | protein_coding | 1765 | chrX | TogoVar | ||||||
ST13_chr22_40819535_40861639 | 40820663 | T | TAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012 | a0001c0001t0001g0003a0001c0001t0001g0130a0001c0001t0005g0061others(1): Show | 6 | 344 | 0.0174 | 19 | c.*58 others(30): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 3871 | chr22 | TogoVar | ||||||
ST3GAL1_chr8_133449848_133576887 | 133535525 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02615.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0014a0001c0001t0041a0001c0002t0010others(16): Show | a0001c0001t0014g0321a0001c0001t0041g0057a0001c0002t0010g0294others(19): Show | 22 | 332 | 0.0663 | 19 | c.-42 others(40): Show |
ST3GAL1 | ENSG00000008513.17 | transcript | ENST00000522652.6 | protein_coding | 2/9 | chr8 | TogoVar | ||||||
ST3GAL2_chr16_70370977_70444100 | 70373742 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0107 | 1 | 312 | 0.0032 | 19 | c.*79 others(30): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 2234 | chr16 | TogoVar | ||||||
ST3GAL2_chr16_70370977_70444100 | 70429588 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0276 | 1 | 312 | 0.0032 | 19 | c.-10 others(40): Show |
ST3GAL2 | ENSG00000157350.13 | transcript | ENST00000342907.3 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
ST3GAL4_chr11_126350686_126419638 | 126371163 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01256.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0026others(6): Show | 9 | 324 | 0.0278 | 19 | c.-61 others(38): Show |
ST3GAL4 | ENSG00000110080.20 | transcript | ENST00000444328.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ST6GAL2_chr2_106796600_106891167 | 106823442 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0014 | a0014c0033 | a0014c0033t0018 | a0014c0033t0018g0032 | 1 | 372 | 0.0027 | 19 | c.131 others(38): Show |
ST6GAL2 | ENSG00000144057.16 | transcript | ENST00000409382.8 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
ST6GALNAC3_chr1_76069746_76639603 | 76486265 | T | TTCCTGGA others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG00741.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0001 | a0001c0001t0016g0018a0002c0002t0001g0022a0002c0002t0001g0023others(1): Show | 4 | 102 | 0.0392 | 19 | c.623 others(38): Show |
ST6GALNAC3 | ENSG00000184005.12 | transcript | ENST00000328299.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ST7L_chr1_112518514_112624141 | 112556966 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0260 | 1 | 364 | 0.0028 | 19 | c.124 others(36): Show |
ST7L | ENSG00000007341.19 | transcript | ENST00000358039.9 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ST7L_chr1_112518514_112624141 | 112565211 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0014 | 1 | 364 | 0.0028 | 19 | c.124 others(38): Show |
ST7L | ENSG00000007341.19 | transcript | ENST00000358039.9 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ST7L_chr1_112518514_112624141 | 112599073 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 364 | 0.0028 | 19 | c.507 others(34): Show |
ST7L | ENSG00000007341.19 | transcript | ENST00000358039.9 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
ST7L_chr1_112518514_112624141 | 112599073 | A | AAATATAT others(12): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19010.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0319a0001c0001t0002g0320a0001c0001t0002g0326 | 3 | 364 | 0.0082 | 19 | c.507 others(34): Show |
ST7L | ENSG00000007341.19 | transcript | ENST00000358039.9 | protein_coding | 4/14 | chr1 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117097884 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0002t0001g0044 | 3 | 188 | 0.0160 | 19 | c.152 others(36): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ST7_chr7_116948501_117235176 | 117097908 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 188 | 0.0053 | 19 | c.152 others(36): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ST7_chr7_116948501_117235176 | 117097908 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0187 | 2 | 188 | 0.0106 | 19 | c.152 others(36): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ST7_chr7_116948501_117235176 | 117097909 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01496.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0064a0001c0001t0001g0073others(1): Show | 4 | 188 | 0.0213 | 19 | c.152 others(36): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
ST7_chr7_116948501_117235176 | 117099046 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 188 | 0.0053 | 19 | c.152 others(34): Show |
ST7 | ENSG00000004866.22 | transcript | ENST00000323984.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ST8SIA1_chr12_22188391_22339707 | 22285877 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02615.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0024a0001c0001t0109others(1): Show | a0001c0001t0010g0201a0001c0001t0024g0144a0001c0001t0109g0167others(1): Show | 4 | 282 | 0.0142 | 19 | c.381 others(36): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ST8SIA1_chr12_22188391_22339707 | 22285877 | C | CAAACAAA others(12): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0170 | a0001c0001t0064g0216a0001c0001t0170g0254 | 2 | 282 | 0.0071 | 19 | c.381 others(36): Show |
ST8SIA1 | ENSG00000111728.11 | transcript | ENST00000396037.9 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
ST8SIA5_chr18_46662821_46762053 | 46677298 | A | AGTTCCCT others(12): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0091 | 1 | 362 | 0.0028 | 19 | c.*27 others(30): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 7/7 | 2743 | chr18 | TogoVar | |||||
ST8SIA5_chr18_46662821_46762053 | 46677298 | A | AGTTCCCT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(337): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(117): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0020others(336): Show | 340 | 362 | 0.9392 | 19 | c.*27 others(30): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 7/7 | 2743 | chr18 | TogoVar | |||||
ST8SIA5_chr18_46662821_46762053 | 46677302 | C | CCCTCCAT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02922.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0041 | a0001c0001t0025g0040a0001c0001t0025g0163a0001c0001t0041g0341others(1): Show | 4 | 362 | 0.0111 | 19 | c.*27 others(30): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 7/7 | 2739 | chr18 | TogoVar | |||||
ST8SIA5_chr18_46662821_46762053 | 46677333 | T | TGCCGTTC others(12): Show |
3_prime_UTR_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0209 | 1 | 362 | 0.0028 | 19 | c.*27 others(30): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 7/7 | 2708 | chr18 | TogoVar | |||||
ST8SIA5_chr18_46662821_46762053 | 46725972 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01516.hp1 HG01516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0033others(1): Show | a0001c0001t0003g0214a0001c0001t0008g0293a0001c0001t0033g0105others(1): Show | 4 | 362 | 0.0111 | 19 | c.132 others(38): Show |
ST8SIA5 | ENSG00000101638.14 | transcript | ENST00000315087.12 | protein_coding | 1/6 | chr18 | TogoVar | ||||||
ST8SIA6_chr10_17310421_17459595 | 17368407 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119a0001c0001t0002g0056 | 2 | 296 | 0.0068 | 19 | c.291 others(36): Show |
ST8SIA6 | ENSG00000148488.17 | transcript | ENST00000377602.5 | protein_coding | 3/7 | chr10 | TogoVar |