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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPINT2_chr19_38259573_38297615 | 38259640 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA18986.hp1 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0252 a0001c0001t0002g0264 others(1): Show |
4 | 337 | 0.0119 | 9 | c.-52 others(20): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 4932 | chr19 | TogoVar | |||||||
SPINT2_chr19_38259573_38297615 | 38260736 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01168.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0313 a0001c0001t0002g0321 others(3): Show |
6 | 353 | 0.0170 | 9 | c.-41 others(20): Show |
SPINT2 | ENSG00000167642.13 | transcript | ENST00000301244.12 | protein_coding | 3836 | chr19 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89842229 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02145.hp1 HG02280.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0342 a0001c0001t0003g0321 a0001c0001t0003g0322 others(15): Show |
18 | 350 | 0.0514 | 9 | c.245 others(26): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4458621 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02280.hp1 HG02647.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0338 a0001c0001t0002g0330 a0001c0003t0001g0152 others(4): Show |
7 | 314 | 0.0223 | 9 | c.111 others(28): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPOCD1_chr1_31785422_31821022 | 31804985 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02129.hp1 HG02129.hp2 others(12): Show |
a0001a0002a0022 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0009t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 others(12): Show |
15 | 93 | 0.1613 | 9 | c.138 others(28): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137062525 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03017.hp1 HG03209.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0062 a0001c0001t0002g0100 others(5): Show |
8 | 80 | 0.1000 | 9 | c.589 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137271804 | T | TTACATAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(129): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0022 others(129): Show |
132 | 152 | 0.8684 | 9 | c.187 others(26): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
SPOCK2_chr10_72054034_72093551 | 72056635 | G | GAATAATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01258.hp1 HG01496.hp2 others(17): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0166 a0001c0001t0002g0033 a0001c0001t0004g0110 others(13): Show |
20 | 115 | 0.1739 | 9 | c.*61 others(20): Show |
SPOCK2 | ENSG00000107742.14 | transcript | ENST00000373109.7 | protein_coding | 2398 | chr10 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166740493 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | NA20805.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0144 a0001c0001t0014g0062 |
2 | 107 | 0.0187 | 9 | c.994 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 9/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167205307 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0002a0002c0008t0003 | a0001c0001t0002g0135 a0002c0008t0003g0002 |
2 | 134 | 0.0149 | 9 | c.189 others(28): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14144633 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG01516.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0027 others(31): Show |
34 | 173 | 0.1965 | 9 | c.825 others(26): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14272671 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01978.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0141 a0001c0001t0004g0183 a0001c0001t0006g0012 others(2): Show |
5 | 71 | 0.0704 | 9 | c.*69 others(20): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 4539 | chr11 | TogoVar | |||||||
SPOUT1_chr9_128814651_128834794 | 128832897 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00673.hp2 others(27): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0002c0002t0006a0002c0002t0036others(1): Show | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0094 others(4): Show |
30 | 37 | 0.8108 | 9 | c.-31 others(20): Show |
SPOUT1 | ENSG00000198917.13 | transcript | ENST00000361256.10 | protein_coding | 3104 | chr9 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50731927 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00673.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(33): Show | a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0275 others(67): Show |
70 | 203 | 0.3448 | 9 | c.101 others(26): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 9/14 | chr15 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120789451 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(104): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0045 others(103): Show |
107 | 182 | 0.5879 | 9 | c.190 others(26): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120789824 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02572.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 others(4): Show |
7 | 119 | 0.0588 | 9 | c.190 others(26): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871130 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01943.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0023others(2): Show | a0001c0001t0003g0282 a0001c0001t0003g0314 a0001c0001t0018g0299 others(3): Show |
6 | 98 | 0.0612 | 9 | c.23+ others(26): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871144 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01099.hp2 HG01243.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0001t0005g0080 a0001c0002t0005g0072 a0001c0002t0005g0073 others(38): Show |
41 | 306 | 0.1340 | 9 | c.23+ others(26): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120876616 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01934.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 others(46): Show |
49 | 206 | 0.2379 | 9 | c.23+ others(26): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120876624 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01099.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0001t0005g0080 a0001c0002t0005g0072 a0001c0002t0005g0073 others(43): Show |
46 | 318 | 0.1447 | 9 | c.23+ others(26): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38272276 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(177): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0102 a0001c0001t0001g0137 a0001c0001t0001g0138 others(175): Show |
180 | 278 | 0.6475 | 9 | c.32+ others(26): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38278828 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0018 | a0001c0001t0009g0309 a0001c0001t0009g0310 a0001c0001t0009g0311 others(8): Show |
11 | 107 | 0.1028 | 9 | c.33- others(26): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38293099 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02280.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0018 | a0001c0001t0009g0309 a0001c0001t0009g0310 a0001c0001t0009g0311 others(9): Show |
12 | 32 | 0.3750 | 9 | c.33- others(24): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38316748 | G | GGTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01123.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0014a0001c0002t0021others(2): Show | a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0003g0025 others(14): Show |
19 | 24 | 0.7917 | 9 | c.208 others(26): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65366305 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0078 a0001c0001t0003g0172 a0001c0001t0003g0180 others(39): Show |
42 | 140 | 0.3000 | 9 | c.27- others(26): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65407245 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(119): Show |
123 | 202 | 0.6089 | 9 | c.26+ others(26): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133421900 | C | CGGGGGGG others(2): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG02622.hp1 HG03491.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0044a0002c0002t0007a0002c0002t0028others(4): Show | a0001c0001t0044g0074 a0002c0002t0007g0011 a0002c0002t0007g0026 others(5): Show |
22 | 183 | 0.1202 | 9 | c.*13 others(20): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 2/2 | 1325 | chr10 | TogoVar | ||||||
SPRN_chr10_133415666_133429625 | 133424765 | T | TCCCCCGC others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01069.hp1 HG02055.hp2 others(22): Show |
a0002a0003 | a0002c0003a0002c0006a0003c0008 | a0002c0003t0003a0002c0003t0018a0002c0003t0024others(4): Show | a0002c0003t0003g0003 a0002c0003t0003g0023 a0002c0003t0018g0031 others(6): Show |
25 | 471 | 0.0531 | 9 | c.-31 others(18): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 141 | chr10 | TogoVar | |||||||
SPRTN_chr1_231333293_231360023 | 231358501 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(132): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0010others(3): Show | a0001c0001t0002a0001c0001t0012a0002c0002t0001others(8): Show | a0001c0001t0002g0009 a0001c0001t0002g0029 a0001c0001t0012g0056 others(52): Show |
135 | 314 | 0.4299 | 9 | c.*51 others(20): Show |
SPRTN | ENSG00000010072.16 | transcript | ENST00000295050.12 | protein_coding | 3479 | chr1 | TogoVar | |||||||
SPRY2_chr13_80330976_80346126 | 80341188 | A | AGAGGAGG others(2): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 6 | 396 | 0.0152 | 9 | c.-61 others(18): Show |
SPRY2 | ENSG00000136158.12 | transcript | ENST00000377104.4 | protein_coding | 63 | chr13 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155619098 | T | TCTTAGAG others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(133): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0137 others(133): Show |
136 | 229 | 0.5939 | 9 | c.-28 others(28): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155680191 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0110 | a0001c0001t0035g0027 a0001c0001t0110g0023 |
2 | 214 | 0.0093 | 9 | c.-28 others(30): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155700658 | A | ATGTGCAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0047 others(94): Show |
98 | 229 | 0.4279 | 9 | c.-28 others(30): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY4_chr5_142305430_142330021 | 142322483 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(111): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0016 a0001c0001t0001g0096 a0001c0001t0002g0001 others(50): Show |
114 | 320 | 0.3563 | 9 | c.-48 others(26): Show |
SPRY4 | ENSG00000187678.10 | transcript | ENST00000434127.3 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
SPRY4_chr5_142305430_142330021 | 142322483 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0025 a0001c0001t0001g0101 a0001c0001t0001g0102 others(7): Show |
15 | 221 | 0.0679 | 9 | c.-48 others(26): Show |
SPRY4 | ENSG00000187678.10 | transcript | ENST00000434127.3 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141112644 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02257.hp2 HG02602.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0029 a0001c0001t0002g0044 a0001c0001t0002g0082 others(8): Show |
11 | 108 | 0.1019 | 9 | c.695 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0004g0141 a0001c0001t0004g0184 a0001c0001t0004g0186 others(28): Show |
32 | 169 | 0.1893 | 9 | c.695 others(28): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158659595 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02970.hp2 others(4): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0054others(3): Show | a0001c0001t0004a0001c0004t0007a0001c0054t0007others(3): Show | a0001c0001t0004g0037 a0001c0004t0007g0264 a0001c0054t0007g0263 others(4): Show |
7 | 169 | 0.0414 | 9 | c.258 others(28): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 18/51 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128600974 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00741.hp2 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0030others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0051 others(18): Show |
21 | 32 | 0.6563 | 9 | c.357 others(26): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 27/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128606374 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG03471.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0002 | a0001c0001t0001g0057 a0001c0001t0001g0101 a0001c0001t0001g0106 others(6): Show |
9 | 25 | 0.3600 | 9 | c.404 others(26): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54506894 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(106): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0082 a0001c0001t0001g0156 a0001c0001t0002g0078 others(106): Show |
109 | 110 | 0.9909 | 9 | c.-47 others(28): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01175.hp1 others(18): Show |
a0001a0004 | a0001c0002a0001c0007a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(4): Show | a0001c0002t0001g0146 a0001c0002t0001g0180 a0001c0002t0001g0212 others(18): Show |
21 | 149 | 0.1409 | 9 | c.149 others(28): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54593823 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp1 HG01975.hp2 others(4): Show |
a0001a0004 | a0001c0002a0001c0007a0004c0034 | a0001c0002t0006a0001c0007t0013a0004c0034t0001 | a0001c0002t0006g0157 a0001c0002t0006g0159 a0001c0002t0006g0279 others(4): Show |
7 | 70 | 0.1000 | 9 | c.149 others(26): 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(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00741.hp2 others(45): Show |
a0001a0007a0010 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0014others(12): Show | a0001c0001t0004g0001 a0001c0001t0004g0091 a0001c0001t0004g0093 others(45): Show |
48 | 139 | 0.3453 | 9 | c.149 others(26): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40477025 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG03491.hp1 |
a0004a0009 | a0004c0007a0009c0030 | a0004c0007t0001a0004c0007t0010a0009c0030t0007 | a0004c0007t0001g0191 a0004c0007t0010g0143 a0009c0030t0007g0172 |
3 | 204 | 0.0147 | 9 | c.169 others(26): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40489228 | A | AAAAAGAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01109.hp1 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(16): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(53): Show |
56 | 186 | 0.3011 | 9 | c.322 others(24): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64882470 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02572.hp1 others(27): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0021a0002c0003others(9): Show | a0001c0002t0001a0001c0021t0009a0002c0003t0001others(17): Show | a0001c0002t0001g0140 a0001c0021t0009g0100 a0001c0021t0009g0103 others(27): Show |
30 | 99 | 0.3030 | 9 | c.-27 others(20): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2564 | chr14 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92050811 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01074.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0063 others(23): Show |
28 | 112 | 0.2500 | 9 | c.781 others(24): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 8/14 | chr9 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77531443 | T | TCTTCTTC others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0001t0030a0001c0003t0023others(2): Show | a0001c0001t0004g0029 a0001c0001t0030g0160 a0001c0003t0023g0132 others(2): Show |
5 | 222 | 0.0225 | 9 | c.130 others(28): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77587759 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00735.hp1 others(12): Show |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0120 a0001c0001t0001g0206 others(12): Show |
15 | 145 | 0.1034 | 9 | c.328 others(26): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar |