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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPRY1_chr4_123391795_123408755 | 123392545 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0028 | 1 | 410 | 0.0024 | 18 | c.-46 others(29): Show |
SPRY1 | ENSG00000164056.11 | transcript | ENST00000651917.1 | protein_coding | 4249 | chr4 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155680145 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02976.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0078 | a0001c0001t0007g0086 a0001c0001t0078g0087 |
2 | 231 | 0.0087 | 18 | c.-28 others(39): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155716981 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0083 | a0001c0001t0002g0216 a0001c0001t0083g0217 |
2 | 231 | 0.0087 | 18 | c.-28 others(39): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767690 | A | AGGAGGAG others(11): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02451.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0036a0001c0001t0037others(1): Show | a0001c0001t0015g0075 a0001c0001t0036g0098 a0001c0001t0037g0097 others(1): Show |
4 | 231 | 0.0173 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767706 | A | AGAGGAGG others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0075others(2): Show | a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 others(6): Show |
9 | 231 | 0.0390 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767706 | A | AGAGGAGG others(11): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0049 | 1 | 231 | 0.0043 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767720 | A | AAGAGGAG others(11): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01069.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0214 others(68): Show |
71 | 231 | 0.3074 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767738 | G | GAGAGGAG others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 HG03540.hp2 HG03834.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0052a0001c0002t0084others(1): Show | a0001c0001t0004g0145 a0001c0002t0052g0176 a0001c0002t0084g0020 others(1): Show |
4 | 231 | 0.0173 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767746 | G | GAGGAGGA others(11): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0183 | 1 | 231 | 0.0043 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155767757 | A | AGAGGAGG others(11): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0030 | 1 | 231 | 0.0043 | 18 | c.-28 others(35): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY4_chr5_142305430_142330021 | 142311935 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00597.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0015a0001c0001t0021others(10): Show | a0001c0001t0003g0003 a0001c0001t0003g0011 a0001c0001t0003g0041 others(24): Show |
52 | 378 | 0.1376 | 18 | c.*22 others(29): Show |
SPRY4 | ENSG00000187678.10 | transcript | ENST00000434127.3 | protein_coding | 2/2 | 2273 | chr5 | TogoVar | ||||||
SPRYD3_chr12_53059316_53084390 | 53062374 | A | AGGCAGCC others(11): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 404 | 0.0025 | 18 | c.*34 others(29): Show |
SPRYD3 | ENSG00000167778.9 | transcript | ENST00000301463.9 | protein_coding | 1941 | chr12 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9361156 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02132.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0011a0001c0001t0036others(2): Show | a0001c0001t0003g0153 a0001c0001t0011g0198 a0001c0001t0011g0228 others(4): Show |
7 | 370 | 0.0189 | 18 | c.694 others(35): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141091870 | C | CTTCCTTT others(11): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0020 | 1 | 254 | 0.0039 | 18 | c.694 others(37): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141135338 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02273.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0036 | a0001c0002t0022g0094 a0001c0002t0022g0129 a0001c0002t0036g0143 |
3 | 254 | 0.0118 | 18 | c.695 others(37): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158659595 | A | ATTATTTT others(11): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0014 | a0014c0028 | a0014c0028t0005 | a0014c0028t0005g0044 | 1 | 370 | 0.0027 | 18 | c.258 others(37): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 18/51 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128561662 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03654.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0142 others(1): Show |
4 | 312 | 0.0128 | 18 | c.-3- others(33): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128562992 | G | GTATGTAT others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0013 a0001c0005t0001g0014 a0001c0005t0001g0016 |
3 | 312 | 0.0096 | 18 | c.-3- others(33): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54465666 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 | 1 | 370 | 0.0027 | 18 | c.-48 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54466561 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0203 | 1 | 370 | 0.0027 | 18 | c.-48 others(37): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54487832 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 NA18959.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0040 | a0001c0001t0002g0020 a0001c0001t0005g0206 a0001c0001t0040g0300 |
3 | 370 | 0.0081 | 18 | c.-48 others(37): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522657 | A | AGGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02698.hp2 NA19240.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0027a0001c0003t0036a0001c0011t0003 | a0001c0003t0027g0054 a0001c0003t0036g0361 a0001c0011t0003g0171 |
3 | 370 | 0.0081 | 18 | c.-47 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54522697 | G | GAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0013 | a0001c0013t0015 | a0001c0013t0015g0259 | 1 | 370 | 0.0027 | 18 | c.-47 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54562533 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0180 a0001c0001t0018g0303 |
2 | 370 | 0.0054 | 18 | c.148 others(37): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54562696 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 NA18522.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003a0001c0005t0011 | a0001c0003t0003g0036 a0001c0005t0003g0047 a0001c0005t0011g0038 |
3 | 370 | 0.0081 | 18 | c.148 others(37): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0005a0001c0001t0007a0001c0001t0014others(4): Show | a0001c0001t0005g0221 a0001c0001t0007g0347 a0001c0001t0014g0105 others(7): Show |
10 | 370 | 0.0270 | 18 | c.149 others(37): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54581577 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01975.hp1 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0006 | a0001c0003t0003a0001c0009t0007a0002c0006t0003 | a0001c0003t0003g0257 a0001c0009t0007g0288 a0001c0009t0007g0336 others(2): Show |
5 | 370 | 0.0135 | 18 | c.149 others(37): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54594833 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0176 | 1 | 370 | 0.0027 | 18 | c.149 others(35): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40479675 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG03209.hp2 |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0001a0004c0014t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0004c0014t0001g0055 |
3 | 234 | 0.0128 | 18 | c.169 others(35): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64744771 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02572.hp2 HG02647.hp2 others(3): Show |
a0002a0003a0005others(2): Show | a0002c0003a0002c0006a0003c0039others(3): Show | a0002c0003t0008a0002c0006t0008a0003c0039t0008others(3): Show | a0002c0003t0008g0100 a0002c0006t0008g0049 a0003c0039t0008g0070 others(3): Show |
6 | 268 | 0.0224 | 18 | c.*45 others(29): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1511 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64751927 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02818.hp1 others(1): Show |
a0002a0028 | a0002c0003a0002c0079a0028c0066 | a0002c0003t0013a0002c0079t0013a0028c0066t0013 | a0002c0003t0013g0116 a0002c0003t0013g0117 a0002c0079t0013g0198 others(1): Show |
4 | 268 | 0.0149 | 18 | c.660 others(37): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 33/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64765017 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0074 | a0001c0074t0014 | a0001c0074t0014g0258 | 1 | 268 | 0.0037 | 18 | c.634 others(37): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64765041 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18993.hp2 |
a0002a0032 | a0002c0006a0032c0056 | a0002c0006t0001a0032c0056t0001 | a0002c0006t0001g0200 a0032c0056t0001g0090 |
2 | 268 | 0.0075 | 18 | c.634 others(37): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 32/35 | chr14 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92050811 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0253 | 1 | 358 | 0.0028 | 18 | c.781 others(33): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 8/14 | chr9 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77531420 | T | TTTCTTCT others(11): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 246 | 0.0041 | 18 | c.130 others(37): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77531460 | T | TCCTCCTC others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0009 | a0003c0009t0042 | a0003c0009t0042g0129 | 1 | 246 | 0.0041 | 18 | c.130 others(37): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77534588 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0023 others(44): Show |
47 | 246 | 0.1911 | 18 | c.130 others(39): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77534588 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0023 | a0001c0001t0004g0029 a0001c0003t0023g0133 |
2 | 246 | 0.0081 | 18 | c.130 others(39): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77539844 | A | AAACGTGT others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02922.hp1 HG02965.hp1 |
a0001 | a0001c0006 | a0001c0006t0018a0001c0006t0022 | a0001c0006t0018g0018 a0001c0006t0018g0075 a0001c0006t0022g0004 |
3 | 246 | 0.0122 | 18 | c.130 others(39): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77608919 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0133 | 1 | 246 | 0.0041 | 18 | c.132 others(35): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13038045 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 others(1): Show |
4 | 292 | 0.0137 | 18 | c.118 others(37): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13067044 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 1 | 292 | 0.0034 | 18 | c.304 others(35): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTSSA_chr14_34427788_34467240 | 34443134 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0209 a0001c0001t0003g0108 |
2 | 344 | 0.0058 | 18 | c.113 others(35): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34443171 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03225.hp2 HG03654.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0199 a0001c0001t0001g0315 a0001c0001t0002g0045 others(10): Show |
13 | 344 | 0.0378 | 18 | c.113 others(35): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34443171 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0061 others(1): Show |
4 | 344 | 0.0116 | 18 | c.113 others(35): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34443355 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0105 | 1 | 344 | 0.0029 | 18 | c.113 others(35): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34443506 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01433.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0209 |
2 | 344 | 0.0058 | 18 | c.113 others(35): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34462894 | G | GCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0083 | 1 | 344 | 0.0029 | 18 | c.-68 others(27): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 655 | chr14 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161369288 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01257.hp1 HG01928.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 others(5): Show |
8 | 412 | 0.0194 | 18 | c.-12 others(37): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161369314 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 412 | 0.0024 | 18 | c.-12 others(37): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 1/2 | chr3 | TogoVar |