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 | 90220745 | A | AGGCAGTG others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(134): Show |
a0002a0004a0006others(3): Show | a0002c0002a0002c0004a0002c0013others(17): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0026others(24): Show | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0017 others(88): Show |
137 | 420 | 0.3262 | 18 | c.484 others(33): Show |
SEMA4B | ENSG00000185033.15 | transcript | ENST00000411539.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89450659 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0302 | 1 | 370 | 0.0027 | 18 | c.-24 others(37): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89450660 | G | GGAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 370 | 0.0027 | 18 | c.-24 others(37): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9088636 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0003 | a0001c0001t0011g0075 a0001c0003t0003g0031 |
2 | 134 | 0.0149 | 18 | c.207 others(39): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9088637 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0063 | 1 | 134 | 0.0075 | 18 | c.207 others(39): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9154093 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0049 | 1 | 134 | 0.0075 | 18 | c.148 others(35): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 12/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9197780 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 134 | 0.0075 | 18 | c.933 others(33): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 9/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9207102 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03209.hp2 NA18989.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0060a0001c0004t0049 | a0001c0001t0001g0042 a0001c0002t0060g0085 a0001c0004t0049g0011 |
3 | 134 | 0.0224 | 18 | c.647 others(35): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 8/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9207116 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0024 | 1 | 134 | 0.0075 | 18 | c.647 others(35): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 8/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9297175 | T | TATACATA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0067a0001c0006t0043 | a0001c0001t0067g0128 a0001c0006t0043g0007 |
2 | 134 | 0.0149 | 18 | c.270 others(37): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 5/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9305708 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0004 | a0001c0004t0069 | a0001c0004t0069g0103 | 1 | 134 | 0.0075 | 18 | c.270 others(37): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 5/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9381942 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0058 | 1 | 134 | 0.0075 | 18 | c.-77 others(35): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9396246 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0022 | a0001c0001t0024g0025 a0001c0002t0022g0073 |
2 | 134 | 0.0149 | 18 | c.-77 others(37): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122907726 | A | AGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 NA18955.hp2 NA19007.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0010 | a0001c0001t0001g0256 a0001c0001t0001g0260 a0004c0008t0010g0219 |
3 | 290 | 0.0103 | 18 | c.*24 others(29): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1355 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116448196 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0083 | a0001c0003t0004g0195 a0001c0003t0083g0278 |
2 | 304 | 0.0066 | 18 | c.189 others(35): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 18/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116551317 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01167.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0032 a0001c0001t0001g0089 a0001c0001t0004g0030 others(1): Show |
4 | 304 | 0.0132 | 18 | c.-39 others(37): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47772357 | C | CGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0005 | a0003c0005t0052 | a0003c0005t0052g0331 | 1 | 388 | 0.0026 | 18 | c.*58 others(27): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 19/19 | 607 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SEMG2_chr20_45216373_45229458 | 45225506 | G | GAAAGAAG others(11): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0005 | 1 | 362 | 0.0028 | 18 | c.*12 others(29): Show |
SEMG2 | ENSG00000124157.7 | transcript | ENST00000372769.4 | protein_coding | 1049 | chr20 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078317 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02723.hp2 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0003t0008 | a0001c0001t0003g0265 a0001c0001t0004g0320 a0001c0003t0008g0349 others(2): Show |
5 | 394 | 0.0127 | 18 | c.553 others(35): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48078334 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 394 | 0.0025 | 18 | c.553 others(35): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185587570 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02615.hp2 others(1): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0002t0010a0002c0002t0030others(1): Show | a0002c0002t0002g0279 a0002c0002t0010g0281 a0002c0002t0030g0280 others(1): Show |
4 | 360 | 0.0111 | 18 | c.101 others(35): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185623826 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18979.hp2 NA18995.hp2 |
a0002 | a0002c0002 | a0002c0002t0085a0002c0002t0097 | a0002c0002t0085g0287 a0002c0002t0097g0322 |
2 | 360 | 0.0056 | 18 | c.152 others(35): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP3_chr17_7556919_7576969 | 7571837 | T | TTATTTAT others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0147 | a0001c0001t0147g0002 | 1 | 446 | 0.0022 | 18 | c.*35 others(27): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 358 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0191 | 1 | 306 | 0.0033 | 18 | c.188 others(37): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00673.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0008others(1): Show | a0001c0002t0003g0005 a0001c0002t0003g0117 a0001c0002t0003g0120 others(7): Show |
11 | 306 | 0.0360 | 18 | c.188 others(37): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0002t0003g0098 a0001c0002t0003g0163 a0001c0002t0003g0176 others(6): Show |
9 | 306 | 0.0294 | 18 | c.188 others(37): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196914586 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01258.hp1 HG02145.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0157 a0001c0002t0003g0169 a0001c0002t0006g0115 others(1): Show |
4 | 306 | 0.0131 | 18 | c.188 others(37): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75719958 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 NA18988.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0152 a0001c0001t0012g0148 a0001c0001t0012g0149 |
3 | 362 | 0.0083 | 18 | c.*43 others(29): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 1678 | chr6 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463364 | A | AATAAATA others(11): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 a0001c0001t0001g0313 |
2 | 370 | 0.0054 | 18 | c.187 others(35): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463380 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0324 |
2 | 370 | 0.0054 | 18 | c.187 others(35): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463400 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp1 HG01346.hp2 others(23): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0001c0001t0004a0010c0014t0004 | a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0200 others(23): Show |
26 | 370 | 0.0703 | 18 | c.187 others(35): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463402 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 370 | 0.0027 | 18 | c.187 others(35): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463402 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 370 | 0.0027 | 18 | c.187 others(35): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SEPTIN11_chr4_76944752_77043615 | 76956962 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03490.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0256 a0001c0001t0001g0318 a0001c0001t0002g0159 others(1): Show |
4 | 370 | 0.0108 | 18 | c.27+ others(33): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 76956993 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 370 | 0.0027 | 18 | c.27+ others(33): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 76956993 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0162 | 1 | 370 | 0.0027 | 18 | c.27+ others(33): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 77016633 | C | CACATATA others(11): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 370 | 0.0027 | 18 | c.687 others(35): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 77016633 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024 a0001c0001t0001g0262 a0001c0001t0001g0266 others(8): Show |
13 | 370 | 0.0351 | 18 | c.687 others(35): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN14_chr7_55788540_55867752 | 55830347 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0078 | 1 | 390 | 0.0026 | 18 | c.720 others(35): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55830349 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0056 | 1 | 390 | 0.0026 | 18 | c.720 others(35): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55846065 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01071.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0229 a0001c0001t0001g0259 a0001c0001t0001g0301 others(50): Show |
53 | 390 | 0.1359 | 18 | c.175 others(33): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30378847 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 310 | 0.0032 | 18 | c.942 others(33): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 9/10 | chr16 | TogoVar | |||||||
SEPTIN3_chr22_41964443_42003221 | 41978893 | T | TGGAGGAG others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18975.hp2 NA18994.hp1 others(2): Show |
a0001a0002a0017 | a0001c0001a0002c0002a0017c0012 | a0001c0001t0001a0002c0002t0001a0017c0012t0001 | a0001c0001t0001g0152 a0001c0001t0001g0190 a0001c0001t0001g0191 others(2): Show |
5 | 360 | 0.0139 | 18 | c.150 others(37): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN4_chr17_58515256_58549328 | 58526573 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19010.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0163 a0001c0005t0001g0144 |
2 | 360 | 0.0056 | 18 | c.191 others(34): Show |
SEPTIN4 | ENSG00000108387.16 | transcript | ENST00000672673.2 | protein_coding | 4/13 | chr17 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG01175.hp2 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 384 | 0.0234 | 18 | c.-18 others(29): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19725295 | G | GGGGCGGT others(11): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG03834.hp2 NA18945.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(2): Show |
9 | 384 | 0.0234 | 18 | c.*28 others(29): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1977 | chr22 | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119621446 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02523.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0098 a0001c0001t0001g0190 a0001c0001t0002g0062 others(5): Show |
8 | 252 | 0.0318 | 18 | c.*42 others(35): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 10/10 | chrX | TogoVar | |||||||
SEPTIN8_chr5_132745819_132782239 | 132767943 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18612.hp2 NA18944.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0061 others(3): Show |
9 | 326 | 0.0276 | 18 | c.31- others(33): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77349091 | T | TTTTTTAT others(11): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 150 | 0.0067 | 18 | c.76+ others(35): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77350610 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0135 | 1 | 150 | 0.0067 | 18 | c.76+ others(35): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |