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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC22B_chr1_120145898_120181520 | 120178281 | GGTGTGTG others(3): Show |
G | upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 380 | 0.0026 | -10 | c.-19 others(21): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 1762 | chr1 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560096 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 | 1 | 394 | 0.0025 | -10 | c.526 others(27): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560112 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02738.hp2 HG02976.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 a0001c0002t0002g0131 a0001c0002t0002g0142 |
3 | 394 | 0.0076 | -10 | c.526 others(26): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560114 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02004.hp2 HG02083.hp2 HG02145.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009a0001c0002t0042 | a0001c0002t0002g0030 a0001c0002t0002g0107 a0001c0002t0002g0113 others(12): Show |
17 | 394 | 0.0432 | -10 | c.526 others(26): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560116 | CTCTCTAT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(76): Show |
a0001a0003 | a0001c0002a0001c0006a0003c0007 | a0001c0002t0002a0001c0002t0009a0001c0002t0025others(5): Show | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0010 others(47): Show |
79 | 394 | 0.2005 | -10 | c.526 others(26): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560118 | CTCTATAT others(3): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0017 a0001c0002t0002g0154 a0001c0002t0002g0158 |
5 | 394 | 0.0127 | -10 | c.526 others(25): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39059278 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG02071.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 a0002c0002t0001g0197 a0002c0002t0001g0207 others(8): Show |
11 | 366 | 0.0301 | -10 | c.150 others(29): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39065997 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00621.hp1 others(53): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0001a0002c0002t0004others(2): Show | a0001c0001t0006g0359 a0002c0002t0001g0005 a0002c0002t0001g0150 others(53): Show |
56 | 366 | 0.1530 | -10 | c.122 others(29): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 10/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39077227 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 366 | 0.0027 | -10 | c.829 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39085689 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02602.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0250 others(2): Show |
5 | 366 | 0.0137 | -10 | c.828 others(23): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094389 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 366 | 0.0027 | -10 | c.222 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094391 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01175.hp2 HG01256.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 a0001c0003t0001g0062 a0001c0003t0001g0063 others(1): Show |
4 | 366 | 0.0109 | -10 | c.222 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094397 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02083.hp1 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0030 a0002c0002t0001g0331 |
2 | 366 | 0.0055 | -10 | c.222 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094434 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0155 | 1 | 366 | 0.0027 | -10 | c.222 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094438 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0328 a0002c0002t0001g0329 |
2 | 366 | 0.0055 | -10 | c.222 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094440 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02055.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0004 | a0001c0001t0001g0288 a0002c0002t0001g0188 a0002c0002t0004g0205 |
3 | 366 | 0.0082 | -10 | c.222 others(27): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18518582 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0088 a0002c0002t0001g0089 |
2 | 410 | 0.0049 | -10 | c.366 others(27): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC23B_chr20_18502940_18566415 | 18545020 | TATTTTTG others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(226): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0017a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(192): Show |
229 | 410 | 0.5585 | -10 | c.166 others(27): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC23IP_chr10_119887730_119949657 | 119891532 | GTTTCTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp1 HG03195.hp2 |
a0003 | a0003c0004 | a0003c0004t0007a0003c0004t0030 | a0003c0004t0007g0284 a0003c0004t0030g0283 |
2 | 400 | 0.0050 | -10 | c.-12 others(21): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 1197 | chr10 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119894892 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0002 a0001c0001t0003g0008 a0001c0001t0003g0013 others(27): Show |
42 | 400 | 0.1050 | -10 | c.163 others(27): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134664792 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0037 a0001c0001t0004g0125 |
2 | 318 | 0.0063 | -10 | c.566 others(27): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109439474 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0006t0002 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(2): Show |
5 | 222 | 0.0225 | -10 | c.133 others(27): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109467325 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 222 | 0.0045 | -10 | c.877 others(27): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482936 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp2 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0190 |
2 | 222 | 0.0090 | -10 | c.116 others(29): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482971 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 222 | 0.0045 | -10 | c.116 others(29): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109542846 | TGATGGGT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0101 a0001c0002t0004g0102 |
2 | 222 | 0.0090 | -10 | c.*31 others(21): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1951 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118726769 | GTAGAAAT others(3): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02572.hp2 others(7): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(2): Show | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(7): Show |
10 | 300 | 0.0333 | -10 | c.295 others(29): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 22/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118780907 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0053 | 1 | 300 | 0.0033 | -10 | c.104 others(31): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 8/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118816088 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp2 HG02451.hp2 others(2): Show |
a0003a0013a0014 | a0003c0008a0013c0024a0014c0023 | a0003c0008t0001a0013c0024t0001a0014c0023t0001 | a0003c0008t0001g0010 a0003c0008t0001g0011 a0003c0008t0001g0012 others(2): Show |
5 | 300 | 0.0167 | -10 | c.398 others(25): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 4/22 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82858542 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(108): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(106): Show |
111 | 328 | 0.3384 | -10 | c.162 others(27): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82861905 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0307 | 1 | 328 | 0.0031 | -10 | c.154 others(27): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 13/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82865536 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001a0011 | a0001c0003a0011c0008 | a0001c0003t0001a0011c0008t0001 | a0001c0003t0001g0009 a0001c0003t0001g0013 a0001c0003t0001g0014 others(2): Show |
5 | 328 | 0.0152 | -10 | c.119 others(27): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 10/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82882401 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(73): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0020 others(72): Show |
76 | 328 | 0.2317 | -10 | c.-4- others(23): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82887388 | GAGAAAAG others(3): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 328 | 0.0031 | -10 | c.-5+ others(25): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC61A1_chr3_128047437_128076683 | 128058201 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 382 | 0.0026 | -10 | c.352 others(27): Show |
SEC61A1 | ENSG00000058262.11 | transcript | ENST00000243253.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC62_chr3_169961807_170003373 | 169966954 | AGGTGGGG others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(3): Show | a0001c0001t0001g0140 a0001c0001t0003g0002 a0001c0001t0003g0016 others(16): Show |
38 | 336 | 0.1131 | -10 | c.36+ others(23): Show |
SEC62 | ENSG00000008952.17 | transcript | ENST00000337002.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC63_chr6_107862756_107963208 | 107863968 | CTGCGTGT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0014a0001c0011t0014 | a0001c0001t0014g0320 a0001c0011t0014g0207 |
2 | 332 | 0.0060 | -10 | c.*77 others(21): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 3787 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863971 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp1 NA18952.hp1 NA19060.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005a0001c0002t0010 | a0001c0001t0001g0309 a0001c0002t0005g0190 a0001c0002t0010g0192 others(1): Show |
4 | 332 | 0.0121 | -10 | c.*77 others(21): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 3784 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107893107 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(99): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(20): Show | a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0001t0001g0150 others(93): Show |
102 | 332 | 0.3072 | -10 | c.167 others(27): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 16/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107895860 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02572.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0048others(2): Show | a0001c0001t0001g0210 a0001c0001t0006g0211 a0001c0001t0006g0212 others(15): Show |
18 | 332 | 0.0542 | -10 | c.144 others(29): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 14/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107935791 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(67): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(10): Show | a0001c0002t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0008 others(61): Show |
70 | 332 | 0.2108 | -10 | c.125 others(27): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107950240 | TAAACATT others(3): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 332 | 0.0030 | -10 | c.124 others(27): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 48993100 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | NA18997.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0286 |
2 | 378 | 0.0053 | -10 | c.262 others(27): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 17/17 | chr15 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49031051 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02698.hp2 HG02738.hp2 |
a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0083 a0001c0008t0005g0084 |
2 | 378 | 0.0053 | -10 | c.664 others(27): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 4/17 | chr15 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49037259 | AGATGTTC others(3): Show |
A | intron_variant | MODIFIER | NA19059.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0254 | 1 | 378 | 0.0027 | -10 | c.203 others(25): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 2/17 | chr15 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82320884 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02572.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0010a0002c0003t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0093 a0001c0001t0010g0054 others(9): Show |
12 | 374 | 0.0321 | -10 | c.*12 others(21): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 139 | chr17 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12949442 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 388 | 0.0026 | -10 | c.111 others(27): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12958064 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 388 | 0.0026 | -10 | c.309 others(27): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12969211 | GCCCCCCC others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(71): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0006 | a0001c0001t0001a0003c0005t0001a0004c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(68): Show |
74 | 388 | 0.1907 | -10 | c.522 others(27): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12974283 | CTCTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 | 1 | 388 | 0.0026 | -10 | c.620 others(27): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |