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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIRE1_chr18_12441512_12663107 | 12615345 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 138 | 0.0072 | 11 | c.372 others(30): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626886 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 137 | 0.0073 | 11 | c.372 others(28): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE1_chr18_12441512_12663107 | 12626887 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 233 | 0.0043 | 11 | c.372 others(28): Show |
SPIRE1 | ENSG00000134278.16 | transcript | ENST00000409402.9 | protein_coding | 2/16 | chr18 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89843669 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 354 | 0.0028 | 11 | c.245 others(28): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 |
3 | 32 | 0.0938 | 11 | c.180 others(28): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0081 | 1 | 30 | 0.0333 | 11 | c.180 others(28): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89869053 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0300 | 1 | 30 | 0.0333 | 11 | c.180 others(28): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89875820 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0016 | 1 | 128 | 0.0078 | 11 | c.*55 others(22): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 4502 | chr16 | TogoVar | |||||||
SPNS3_chr17_4428940_4493204 | 4461361 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0021 | a0003c0021t0003 | a0003c0021t0003g0002 | 1 | 101 | 0.0099 | 11 | c.111 others(30): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4468738 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0008 | a0003c0008t0003 | a0003c0008t0003g0174 | 1 | 360 | 0.0028 | 11 | c.111 others(30): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4468758 | T | TTTCTTTC others(4): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 357 | 0.0028 | 11 | c.111 others(30): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPNS3_chr17_4428940_4493204 | 4477970 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00673.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0105 others(43): Show |
47 | 123 | 0.3821 | 11 | 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(4): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01109.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 others(26): Show |
29 | 107 | 0.2710 | 11 | c.138 others(30): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATATTT others(4): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 | 1 | 35 | 0.0286 | 11 | c.-12 others(22): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATATTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 HG03041.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0158 a0001c0006t0001g0161 |
2 | 36 | 0.0556 | 11 | c.-12 others(22): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31817120 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 35 | 0.0286 | 11 | c.-12 others(22): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 1099 | chr1 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137024314 | A | AGGCGGGG others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0037 | 1 | 38 | 0.0263 | 11 | c.590 others(30): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 6/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131987 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 149 | 0.0067 | 11 | c.347 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18968.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0031 | a0001c0001t0001g0007 a0001c0001t0002g0132 a0001c0001t0002g0142 others(3): Show |
6 | 68 | 0.0882 | 11 | c.347 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02040.hp1 NA18941.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0011 | a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 others(2): Show |
5 | 67 | 0.0746 | 11 | c.347 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137131989 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0137 | 1 | 63 | 0.0159 | 11 | c.347 others(28): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
SPOCK1_chr5_136970298_137504326 | 137217953 | T | TAGAAATA others(4): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02896.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0007a0001c0004t0006 | a0001c0001t0006g0013 a0001c0001t0007g0039 a0001c0004t0006g0037 |
3 | 152 | 0.0197 | 11 | c.232 others(30): Show |
SPOCK1 | ENSG00000152377.15 | transcript | ENST00000394945.6 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SPOCK2_chr10_72054034_72093551 | 72074873 | C | CGGCCCAC others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0244 a0001c0001t0015g0095 |
2 | 370 | 0.0054 | 11 | c.190 others(28): Show |
SPOCK2 | ENSG00000107742.14 | transcript | ENST00000373109.7 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 166742224 | G | GTCTATCA others(4): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 140 | 0.0071 | 11 | c.932 others(26): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109068 | T | TATATTTA others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003 | a0001c0001t0002g0009 a0001c0004t0003g0003 a0001c0004t0003g0008 |
3 | 142 | 0.0211 | 11 | c.190 others(30): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167109099 | T | TATATTTA others(4): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03579.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0003 | a0001c0001t0002g0009 a0001c0004t0003g0003 a0001c0004t0003g0008 |
3 | 142 | 0.0211 | 11 | c.190 others(30): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPOCK3_chr4_166728384_167239494 | 167220378 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01261.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0066 a0001c0001t0014g0062 |
2 | 28 | 0.0714 | 11 | c.189 others(30): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | |||||||
SPON1_chr11_13957723_14273133 | 14090824 | G | GCCACCCC others(4): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0121 a0001c0001t0007g0210 |
2 | 120 | 0.0167 | 11 | c.676 others(30): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPON1_chr11_13957723_14273133 | 14235678 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0046 | 1 | 36 | 0.0278 | 11 | c.826 others(28): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPPL2A_chr15_50697266_50770706 | 50703356 | A | ATATATAT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0014 | a0001c0001t0017g0169 a0001c0003t0014g0170 |
2 | 203 | 0.0099 | 11 | c.*44 others(22): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 4443 | chr15 | TogoVar | ||||||
SPPL2A_chr15_50697266_50770706 | 50703356 | A | ATATATTT others(4): Show |
3_prime_UTR_variant | MODIFIER | HG01943.hp2 HG02647.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0074a0002c0002t0013 | a0001c0003t0074g0171 a0002c0002t0013g0241 |
2 | 203 | 0.0099 | 11 | c.*44 others(22): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 15/15 | 4443 | chr15 | TogoVar | ||||||
SPPL2A_chr15_50697266_50770706 | 50729996 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18941.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0040a0003c0004t0002 | a0002c0002t0040g0248 a0003c0004t0002g0326 |
2 | 192 | 0.0104 | 11 | c.108 others(28): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 10/14 | chr15 | TogoVar | |||||||
SPPL2A_chr15_50697266_50770706 | 50731927 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00741.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0010a0001c0001t0017others(14): Show | a0001c0001t0004g0003 a0001c0001t0004g0024 a0001c0001t0004g0025 others(27): Show |
31 | 164 | 0.1890 | 11 | c.101 others(28): Show |
SPPL2A | ENSG00000138600.11 | transcript | ENST00000261854.10 | protein_coding | 9/14 | chr15 | TogoVar | |||||||
SPPL2B_chr19_2323684_2360095 | 2326312 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 40 | 0.0250 | 11 | c.-23 others(22): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 2371 | chr19 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120789451 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02055.hp2 HG03486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0005others(3): Show | a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0068 others(7): Show |
10 | 85 | 0.1176 | 11 | c.190 others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120789824 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01981.hp1 HG02055.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 others(15): Show |
18 | 130 | 0.1385 | 11 | c.190 others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120830580 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0104 | 1 | 32 | 0.0313 | 11 | c.24- others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871130 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01074.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0039 others(35): Show |
38 | 130 | 0.2923 | 11 | c.23+ others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871138 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0116 | 1 | 318 | 0.0031 | 11 | c.23+ others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120871146 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 318 | 0.0031 | 11 | c.23+ others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPPL3_chr12_120757510_120909358 | 120876616 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02135.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0142 |
2 | 159 | 0.0126 | 11 | c.23+ others(28): Show |
SPPL3 | ENSG00000157837.16 | transcript | ENST00000353487.7 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38272276 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0086 a0001c0001t0010g0215 a0001c0001t0010g0216 others(1): Show |
4 | 102 | 0.0392 | 11 | c.32+ others(28): 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(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 others(172): Show |
178 | 198 | 0.8990 | 11 | 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 | 38293118 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 376 | 0.0027 | 11 | c.33- others(26): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38316748 | G | GGTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18966.hp2 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0038 a0001c0002t0003g0056 |
2 | 7 | 0.2857 | 11 | c.208 others(28): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38357917 | C | CCCACCCC others(4): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 286 | 0.0035 | 11 | c.*62 others(22): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 669 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38357917 | C | CCCCCCCC others(4): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA18957.hp2 NA18981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032 | a0001c0001t0002g0231 a0001c0001t0002g0250 a0001c0001t0002g0274 others(3): Show |
6 | 291 | 0.0206 | 11 | c.*62 others(22): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 669 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65407245 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 | 1 | 80 | 0.0125 | 11 | c.26+ others(28): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133421900 | C | CGGGGGGG others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp1 others(32): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0004a0002c0002t0014a0002c0002t0057others(2): Show | a0002c0002t0004g0005 a0002c0002t0004g0042 a0002c0002t0004g0067 others(7): Show |
35 | 196 | 0.1786 | 11 | c.*13 others(22): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 2/2 | 1325 | chr10 | TogoVar | ||||||
SPRN_chr10_133415666_133429625 | 133427325 | G | GAGGGGCT others(4): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0022 | 1 | 317 | 0.0032 | 11 | c.-28 others(22): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 2701 | chr10 | TogoVar |