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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA4B_chr15_90196330_90234660 | 90222971 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 NA20129.hp2 NA20905.hp1 |
a0001 | a0001c0005a0001c0007a0001c0017 | a0001c0005t0003a0001c0007t0004a0001c0017t0003 | a0001c0005t0003g0007 a0001c0007t0004g0178 a0001c0017t0003g0139 |
3 | 303 | 0.0099 | 9 | c.862 others(24): Show |
SEMA4B | ENSG00000185033.15 | transcript | ENST00000411539.7 | protein_coding | 7/13 | chr15 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89461700 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG01928.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0007others(5): Show | a0001c0001t0001g0047 a0001c0001t0001g0236 a0001c0001t0001g0250 others(15): Show |
18 | 143 | 0.1259 | 9 | c.-30 others(28): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89491571 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0005a0001c0003t0005a0001c0013t0004 | a0001c0001t0005g0233 a0001c0003t0005g0231 a0001c0003t0005g0232 others(2): Show |
5 | 267 | 0.0187 | 9 | c.-31 others(28): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9109028 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02572.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0001g0018 a0001c0001t0008g0122 a0001c0001t0016g0090 others(2): Show |
5 | 34 | 0.1471 | 9 | c.192 others(26): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 15/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9164133 | T | TATTTATA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0019a0001c0001t0032a0001c0001t0035others(8): Show | a0001c0001t0019g0118 a0001c0001t0032g0067 a0001c0001t0035g0059 others(8): Show |
11 | 132 | 0.0833 | 9 | c.127 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353075 | A | AAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00673.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(21): Show | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0011g0075 others(26): Show |
29 | 127 | 0.2283 | 9 | c.125 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9473383 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02818.hp2 HG03654.hp1 others(4): Show |
a0001 | a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0003t0012a0001c0003t0041a0001c0005t0001others(3): Show | a0001c0003t0012g0068 a0001c0003t0041g0016 a0001c0005t0001g0051 others(4): Show |
7 | 57 | 0.1228 | 9 | c.-17 others(30): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122966536 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02080.hp2 HG02257.hp2 others(10): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0006a0002c0002t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0041 others(10): Show |
13 | 103 | 0.1262 | 9 | c.-38 others(26): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122966887 | T | TTATTATT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01192.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0015a0002c0002t0001 | a0001c0001t0013g0009 a0001c0001t0013g0010 a0001c0001t0015g0007 others(1): Show |
4 | 267 | 0.0150 | 9 | c.-38 others(26): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116448196 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01071.hp1 HG01346.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0015a0001c0001t0019others(3): Show | a0001c0001t0005g0030 a0001c0001t0005g0134 a0001c0001t0005g0205 others(8): Show |
11 | 283 | 0.0389 | 9 | c.189 others(26): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 18/18 | chr5 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185587732 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00639.hp2 others(34): Show |
a0002a0003 | a0002c0002a0002c0007a0003c0004 | a0002c0002t0001a0002c0002t0003a0002c0002t0015others(16): Show | a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0228 others(34): Show |
37 | 191 | 0.1937 | 9 | c.101 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185588050 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02080.hp1 HG03942.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0009a0002c0002t0057others(3): Show | a0002c0002t0007g0318 a0002c0002t0007g0324 a0002c0002t0009g0328 others(4): Show |
7 | 188 | 0.0372 | 9 | c.101 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185592007 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01928.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0021a0002c0002t0025others(8): Show | a0002c0002t0012g0301 a0002c0002t0021g0330 a0002c0002t0025g0303 others(9): Show |
12 | 322 | 0.0373 | 9 | c.157 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185592011 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01175.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0024a0001c0001t0034others(16): Show | a0001c0001t0018g0164 a0001c0001t0024g0149 a0001c0001t0024g0162 others(18): Show |
21 | 38 | 0.5526 | 9 | c.157 others(26): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631484 | T | TCCCCCTC others(2): Show |
3_prime_UTR_variant | MODIFIER | NA18948.hp1 NA18962.hp2 NA18977.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0083a0002c0002t0084a0002c0002t0090others(1): Show | a0002c0002t0083g0320 a0002c0002t0084g0319 a0002c0002t0090g0283 others(1): Show |
4 | 345 | 0.0116 | 9 | c.*16 others(20): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1644 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP2_chr3_185581295_185638551 | 185637235 | G | GTGGAGCA others(2): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01256.hp1 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0018a0001c0001t0037others(2): Show | a0001c0001t0014g0181 a0001c0001t0018g0180 a0001c0001t0037g0172 others(4): Show |
7 | 358 | 0.0196 | 9 | c.*73 others(20): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 3685 | chr3 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185637236 | C | CGGAGCAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(281): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(164): Show | a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0053 others(278): Show |
284 | 350 | 0.8114 | 9 | c.*73 others(20): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 3686 | chr3 | TogoVar | |||||||
SENP5_chr3_196862920_196939714 | 196933013 | G | GTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0001g0276 a0001c0001t0005g0083 a0001c0001t0005g0109 others(3): Show |
6 | 157 | 0.0382 | 9 | c.*20 others(20): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 10/10 | 2097 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP6_chr6_75596880_75723281 | 75652683 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(80): Show |
a0001a0003a0010 | a0001c0001a0001c0005a0001c0016others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(79): Show |
83 | 172 | 0.4826 | 9 | c.550 others(26): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75719958 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01517.hp1 HG02056.hp1 HG02698.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0002c0003t0003 | a0001c0001t0016g0122 a0002c0003t0003g0033 a0002c0003t0003g0034 others(4): Show |
7 | 171 | 0.0409 | 9 | c.*43 others(20): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 1678 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101331563 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(163): Show |
a0001a0002a0004others(2): Show | a0001c0003a0001c0009a0002c0002others(3): Show | a0001c0003t0002a0001c0003t0007a0001c0003t0010others(10): Show | a0001c0003t0002g0016 a0001c0003t0002g0017 a0001c0003t0002g0019 others(163): Show |
166 | 194 | 0.8557 | 9 | c.269 others(26): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 19/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101510843 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02809.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 others(3): Show |
6 | 101 | 0.0594 | 9 | c.40+ others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109593409 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03225.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0139 a0001c0001t0002g0162 a0001c0001t0003g0022 others(3): Show |
6 | 193 | 0.0311 | 9 | c.31- others(22): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SEPTIN12_chr16_4772606_4793345 | 4781943 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02129.hp2 HG02615.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0022 a0001c0001t0001g0081 a0001c0002t0002g0025 others(9): Show |
18 | 159 | 0.1132 | 9 | c.726 others(26): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30379640 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0003g0032 |
7 | 11 | 0.6364 | 9 | c.676 others(24): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
SEPTIN3_chr22_41964443_42003221 | 41978893 | T | TGGAGGAG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(53): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0165 a0001c0001t0001g0166 others(45): Show |
56 | 180 | 0.3111 | 9 | c.150 others(28): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01975.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(3): Show |
9 | 30 | 0.3000 | 9 | c.-18 others(20): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19725847 | C | CACTGTCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(55): Show |
317 | 319 | 0.9937 | 9 | c.*33 others(20): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2529 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119647483 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01517.hp1 HG02523.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(2): Show | a0001c0001t0001g0036 a0001c0001t0001g0080 a0001c0001t0001g0098 others(7): Show |
10 | 132 | 0.0758 | 9 | c.690 others(26): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119647483 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01168.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(34): Show |
37 | 159 | 0.2327 | 9 | c.690 others(26): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 5/10 | chrX | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77346278 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01169.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(4): Show | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0073 others(13): Show |
16 | 62 | 0.2581 | 9 | c.76+ others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77484878 | T | TGGTGAAG others(2): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0042 | a0001c0001t0012g0113 a0002c0002t0042g0032 |
2 | 146 | 0.0137 | 9 | c.913 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77484891 | G | GGTGGCGA others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0017others(1): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(5): Show |
8 | 144 | 0.0556 | 9 | c.914 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77346278 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp1 HG01169.hp1 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0039 others(16): Show |
19 | 66 | 0.2879 | 9 | c.22+ others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484878 | T | TGGTGAAG others(2): Show |
intron_variant | MODIFIER | HG02897.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0026 | a0001c0001t0010g0093 a0002c0002t0026g0118 |
2 | 154 | 0.0130 | 9 | c.859 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77314518_77505593 | 77484891 | G | GGTGGCGA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0023a0001c0001t0054others(2): Show | a0001c0001t0002g0077 a0001c0001t0002g0155 a0001c0001t0023g0066 others(4): Show |
7 | 152 | 0.0461 | 9 | c.860 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169745 | T | TAATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01256.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0151 a0001c0001t0001g0153 others(6): Show |
9 | 243 | 0.0370 | 9 | c.-16 others(20): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1484 | chr6 | TogoVar | |||||||
SERF1B_chr5_70020251_70048113 | 70035364 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0162 |
2 | 164 | 0.0122 | 9 | c.117 others(26): Show |
SERF1B | ENSG00000205572.11 | transcript | ENST00000380750.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SERGEF_chr11_17783048_18018047 | 17830645 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01175.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0002a0004c0006t0002 | a0001c0001t0001g0045 a0001c0001t0001g0064 a0001c0001t0001g0068 others(4): Show |
7 | 174 | 0.0402 | 9 | c.104 others(30): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 10/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17902197 | T | TTGACTGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(121): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 others(120): Show |
124 | 224 | 0.5536 | 9 | c.101 others(30): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42559229 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02109.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0289 a0002c0002t0001g0154 a0002c0002t0001g0211 others(4): Show |
7 | 126 | 0.0556 | 9 | c.533 others(24): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC1_chr6_122438351_122476807 | 122445883 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02015.hp2 HG03209.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0027 others(6): Show |
18 | 132 | 0.1364 | 9 | c.122 others(26): Show |
SERINC1 | ENSG00000111897.7 | transcript | ENST00000339697.5 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31414421 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG00673.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0002g0326 a0001c0001t0005g0237 a0001c0001t0006g0318 others(32): Show |
35 | 72 | 0.4861 | 9 | c.39+ others(24): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431795 | A | ATAGGATG others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01071.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(5): Show | a0001c0001t0004g0133 a0001c0001t0004g0135 a0001c0001t0004g0136 others(13): Show |
16 | 285 | 0.0561 | 9 | c.101 others(28): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431804 | A | ATAGGATG others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01261.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0002g0287 a0001c0001t0002g0326 a0001c0001t0004g0150 others(11): Show |
15 | 309 | 0.0485 | 9 | c.101 others(28): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01123.hp1 others(11): Show |
a0001a0003a0005others(2): Show | a0001c0003a0001c0005a0003c0007others(3): Show | a0001c0003t0002a0001c0005t0002a0003c0007t0002others(3): Show | a0001c0003t0002g0001 a0001c0003t0002g0038 a0001c0003t0002g0039 others(11): Show |
14 | 241 | 0.0581 | 9 | c.101 others(26): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC5_chr5_80133727_80261048 | 80137139 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01433.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0017others(3): Show | a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0002t0003g0094 others(12): Show |
15 | 183 | 0.0820 | 9 | c.*65 others(20): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1587 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80155572 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0030a0001c0001t0051others(3): Show | a0001c0001t0018g0002 a0001c0001t0030g0093 a0001c0001t0030g0144 others(4): Show |
7 | 151 | 0.0464 | 9 | c.986 others(26): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 8/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80174369 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00642.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0072 others(39): Show |
42 | 76 | 0.5526 | 9 | c.551 others(24): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 5/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80230459 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG01169.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0081 others(63): Show |
66 | 175 | 0.3771 | 9 | c.27+ others(26): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar |