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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA3E_chr7_83358238_83654139 | 83363859 | CATTTTTT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02897.hp2 HG03225.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0028a0001c0001t0047others(1): Show | a0001c0001t0016g0193 a0001c0001t0016g0194 a0001c0001t0016g0198 others(3): Show |
6 | 203 | 0.0296 | -9 | c.*37 others(20): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 17/17 | 3718 | chr7 | TogoVar | ||||||
SEMA3E_chr7_83358238_83654139 | 83600486 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(52): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0001g0042 a0001c0001t0005g0043 a0001c0001t0005g0108 others(52): Show |
55 | 78 | 0.7051 | -9 | c.115 others(28): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89442154 | CACATCTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0047 a0001c0001t0001g0063 a0001c0001t0001g0159 others(35): Show |
38 | 368 | 0.1033 | -9 | c.-24 others(30): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89450659 | GGAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG03834.hp2 NA18959.hp2 |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0004t0049a0003c0005t0044 | a0001c0001t0001g0243 a0001c0004t0049g0369 a0003c0005t0044g0283 |
3 | 120 | 0.0250 | -9 | c.-24 others(28): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89479747 | TCTCGCTG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(19): Show | a0001c0001t0002g0290 a0001c0001t0002g0296 a0001c0001t0002g0327 others(86): Show |
89 | 368 | 0.2418 | -9 | c.-31 others(30): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9075391 | TTAATTGT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0015a0001c0002t0009a0001c0002t0022others(1): Show | a0001c0001t0015g0092 a0001c0001t0015g0093 a0001c0002t0009g0002 others(3): Show |
6 | 132 | 0.0455 | -9 | c.207 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122932243 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01074.hp2 others(26): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0025others(3): Show | a0001c0001t0001a0003c0003t0004a0003c0003t0012others(8): Show | a0001c0001t0001g0156 a0001c0001t0001g0157 a0003c0003t0004g0067 others(24): Show |
29 | 86 | 0.3372 | -9 | c.475 others(26): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116467882 | AGTGGTGG others(2): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0001t0032a0001c0007t0049 | a0001c0001t0010g0257 a0001c0001t0032g0298 a0001c0001t0032g0299 others(1): Show |
4 | 114 | 0.0351 | -9 | c.173 others(26): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 17/18 | chr5 | TogoVar | |||||||
SEMA6B_chr19_4537593_4564684 | 4547923 | AATGACCA others(2): Show |
A | intron_variant | MODIFIER | HG04115.hp1 HG04199.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0300 |
3 | 438 | 0.0068 | -9 | c.160 others(25): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48057592 | TTATTTTA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(259): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(251): Show |
262 | 392 | 0.6684 | -9 | c.140 others(28): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48085715 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(70): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 others(62): Show |
73 | 122 | 0.5984 | -9 | c.381 others(26): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48104253 | AGACGGGG others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(6): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(79): Show |
82 | 131 | 0.6260 | -9 | c.-45 others(26): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
SENP6_chr6_75596880_75723281 | 75653025 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01069.hp1 others(22): Show |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0013 | a0001c0001t0005a0001c0001t0012a0004c0006t0005others(1): Show | a0001c0001t0005g0141 a0001c0001t0005g0144 a0001c0001t0005g0145 others(22): Show |
25 | 360 | 0.0694 | -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 | 75705924 | CCTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02738.hp2 HG03927.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0015 | a0001c0001t0002g0001 a0001c0001t0002g0069 a0001c0001t0002g0102 others(8): Show |
11 | 162 | 0.0679 | -9 | c.271 others(28): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 19/23 | chr6 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13347744 | TCCTCCCC others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01346.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 |
3 | 376 | 0.0080 | -9 | c.-79 others(24): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30385176 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01123.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show |
35 | 62 | 0.5645 | -9 | c.-26 others(20): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 2616 | chr16 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19725898 | CGCTGTCG others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(55): Show |
318 | 381 | 0.8346 | -9 | c.*34 others(20): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2580 | chr22 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77276975 | TTTTATTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02886.hp2 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0015 | a0001c0001t0002g0130 a0001c0001t0002g0131 a0002c0002t0015g0129 |
3 | 148 | 0.0203 | -9 | c.-45 others(20): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4523 | chr17 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77390346 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01069.hp2 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0098 others(35): Show |
38 | 82 | 0.4634 | -9 | c.77- others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77414572 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02280.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0130 others(15): Show |
18 | 93 | 0.1935 | -9 | c.721 others(28): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77484430 | ATGGTGAT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00738.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0065 a0001c0001t0001g0076 a0001c0001t0001g0079 others(89): Show |
92 | 148 | 0.6216 | -9 | c.913 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77390346 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0038 others(38): Show |
41 | 88 | 0.4659 | -9 | c.23- others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77414572 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp1 HG02280.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0002g0155 a0001c0001t0004g0031 a0001c0001t0004g0081 others(16): Show |
19 | 101 | 0.1881 | -9 | c.667 others(28): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77484430 | ATGGTGAT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00738.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0027 others(95): Show |
98 | 156 | 0.6282 | -9 | c.859 others(26): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERAC1_chr6_158104519_158173262 | 158169678 | AATATATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 NA18952.hp2 NA19086.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 a0001c0002t0003g0262 a0001c0002t0003g0263 others(1): Show |
4 | 362 | 0.0110 | -9 | c.-15 others(20): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1417 | chr6 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17885657 | GTCACAGT others(2): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02015.hp1 HG02015.hp2 others(14): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0013 | a0001c0001t0001a0001c0002t0002a0010c0013t0001 | a0001c0001t0001g0058 a0001c0001t0001g0105 a0001c0001t0001g0106 others(14): Show |
17 | 224 | 0.0759 | -9 | c.101 others(28): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896861 | GGGAAGGG others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG01361.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0125 others(7): Show |
10 | 221 | 0.0452 | -9 | c.101 others(30): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERGEF_chr11_17783048_18018047 | 17896866 | GGGAAGGG others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp2 NA18953.hp2 NA18977.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0002 | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0088 others(4): Show |
7 | 214 | 0.0327 | -9 | c.101 others(30): Show |
SERGEF | ENSG00000129158.11 | transcript | ENST00000265965.10 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
SERHL2_chr22_42548956_42579382 | 42567715 | TTTAATTT others(2): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18980.hp1 NA18983.hp1 others(3): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0047 a0002c0002t0001g0209 a0002c0002t0001g0314 others(2): Show |
6 | 430 | 0.0140 | -9 | c.648 others(26): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31414419 | GGTTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 HG01891.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0284 a0002c0008t0001g0124 a0002c0008t0001g0125 |
3 | 369 | 0.0081 | -9 | c.39+ others(24): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC3_chr20_44492441_44527070 | 44516101 | AGACCAGC others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG02056.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 a0001c0001t0004g0023 a0001c0001t0004g0052 others(4): Show |
11 | 298 | 0.0369 | -9 | c.40- others(24): Show |
SERINC3 | ENSG00000132824.14 | transcript | ENST00000342374.5 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80137704 | GGCTGAGG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(91): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0023others(29): Show | a0001c0001t0006g0019 a0001c0001t0006g0064 a0001c0001t0006g0114 others(91): Show |
94 | 284 | 0.3310 | -9 | c.*59 others(20): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1022 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80224926 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0134 others(8): Show |
11 | 284 | 0.0387 | -9 | c.28- others(26): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERINC5_chr5_80133727_80261048 | 80229021 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG01099.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0020 a0001c0001t0001g0169 a0001c0001t0001g0177 others(14): Show |
17 | 79 | 0.2152 | -9 | c.28- others(26): Show |
SERINC5 | ENSG00000164300.17 | transcript | ENST00000507668.7 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
SERPINA11_chr14_94437464_94457800 | 94449397 | TTTCTTTC others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00738.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0174 a0001c0001t0001g0179 others(9): Show |
13 | 449 | 0.0290 | -9 | c.-3- others(22): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINA12_chr14_94482279_94514469 | 94508388 | ATAGAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(391): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(230): Show |
394 | 444 | 0.8874 | -9 | c.-34 others(24): Show |
SERPINA12 | ENSG00000165953.10 | transcript | ENST00000677451.1 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
SERPINB10_chr18_63902958_63941111 | 63929712 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp1 HG01243.hp2 others(97): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0008a0003c0003others(6): Show | a0002c0002t0002a0002c0008t0001a0002c0008t0002others(11): Show | a0002c0002t0002g0006 a0002c0002t0002g0025 a0002c0002t0002g0072 others(42): Show |
100 | 346 | 0.2890 | -9 | c.491 others(24): Show |
SERPINB10 | ENSG00000242550.7 | transcript | ENST00000238508.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB12_chr18_63537369_63574329 | 63546619 | GCTTCATG others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0059 a0001c0001t0031g0203 |
3 | 400 | 0.0075 | -9 | c.-19 others(26): Show |
SERPINB12 | ENSG00000166634.7 | transcript | ENST00000382768.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB5_chr18_63471958_63510085 | 63499997 | CTATTATT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(144): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0015a0003c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(95): Show |
147 | 347 | 0.4236 | -9 | c.735 others(24): Show |
SERPINB5 | ENSG00000206075.14 | transcript | ENST00000382771.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINC1_chr1_173898800_173922327 | 173907984 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0005 | a0001c0001t0001a0001c0006t0001a0002c0005t0001 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0042 others(7): Show |
22 | 68 | 0.3235 | -9 | c.115 others(26): Show |
SERPINC1 | ENSG00000117601.15 | transcript | ENST00000367698.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SERPINE1_chr7_101122104_101144247 | 101127943 | GAAAGAAA others(2): Show |
G | intron_variant | MODIFIER | HG02109.hp1 NA18973.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0027 | a0001c0001t0001g0125 a0002c0003t0003g0305 a0002c0003t0027g0304 |
3 | 434 | 0.0069 | -9 | c.-1- others(22): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SERPINE1_chr7_101122104_101144247 | 101140291 | AGAAAGAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01358.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012 | a0001c0001t0002g0010 a0001c0001t0005g0012 a0001c0001t0012g0201 |
3 | 432 | 0.0069 | -9 | c.*28 others(20): Show |
SERPINE1 | ENSG00000106366.9 | transcript | ENST00000223095.5 | protein_coding | 1045 | chr7 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 224022158 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(23): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0002 | a0001c0001t0001g0011 a0001c0001t0001g0077 a0001c0001t0001g0191 others(18): Show |
26 | 208 | 0.1250 | -9 | c.-23 others(28): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SERPINE2_chr2_223970045_224044286 | 224044121 | CTCTTTCT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(45): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0051 others(45): Show |
48 | 290 | 0.1655 | -9 | c.-50 others(20): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 4836 | chr2 | TogoVar | |||||||
SERPINI1_chr3_167730721_167830569 | 167775225 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00639.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0020 others(33): Show |
36 | 81 | 0.4444 | -9 | c.-18 others(28): Show |
SERPINI1 | ENSG00000163536.13 | transcript | ENST00000446050.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SERPINI2_chr3_167436933_167479042 | 167470550 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(57): Show |
a0002a0003 | a0002c0006a0003c0003a0003c0008others(1): Show | a0002c0006t0001a0003c0003t0001a0003c0008t0002others(1): Show | a0002c0006t0001g0125 a0003c0003t0001g0002 a0003c0003t0001g0006 others(30): Show |
60 | 147 | 0.4082 | -9 | c.247 others(26): Show |
SERPINI2 | ENSG00000114204.16 | transcript | ENST00000264677.9 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109004608 | TTTTAGTA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 others(3): Show |
6 | 182 | 0.0330 | -9 | c.280 others(26): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SESN1_chr6_108979309_109099846 | 109086755 | AATAACTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0034 a0001c0001t0001g0049 others(50): Show |
53 | 182 | 0.2912 | -9 | c.279 others(26): Show |
SESN1 | ENSG00000080546.14 | transcript | ENST00000436639.7 | protein_coding | 1/9 | chr6 | TogoVar | |||||||
SETBP1_chr18_44675888_45073510 | 44839468 | ATCTCCGG others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02572.hp1 others(11): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 others(11): Show |
14 | 138 | 0.1014 | -9 | c.487 others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SETBP1_chr18_44675888_45073510 | 44886754 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0140 a0001c0001t0010g0035 |
2 | 23 | 0.0870 | -9 | c.540 others(28): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |