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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC22A_chr3_123196943_123279136 | 123260131 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG01515.hp1 HG02083.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0196 others(18): Show |
21 | 340 | 0.0618 | -6 | c.723 others(21): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123275602 | ATTACAG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(329): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0098 others(323): Show |
332 | 340 | 0.9765 | -6 | c.*38 others(17): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 1467 | chr3 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120166396 | TACACAC | T | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0030a0001c0002t0047a0001c0002t0068 | a0001c0002t0030g0031 a0001c0002t0047g0073 a0001c0002t0068g0074 |
4 | 380 | 0.0105 | -6 | c.185 others(23): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560116 | CTCTCTA | C | intron_variant | MODIFIER | HG02735.hp1 HG02735.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004a0001c0003t0006 | a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0003t0004g0072 others(3): Show |
6 | 394 | 0.0152 | -6 | c.526 others(22): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC22C_chr3_42542969_42586967 | 42560118 | CTCTATA | C | intron_variant | MODIFIER | HG01346.hp2 HG02451.hp1 HG03239.hp1 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0014 | a0001c0003t0004g0006 a0001c0003t0004g0077 a0001c0003t0014g0098 others(2): Show |
10 | 394 | 0.0254 | -6 | c.526 others(21): Show |
SEC22C | ENSG00000093183.14 | transcript | ENST00000264454.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39028516 | AAAAGAT | A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01175.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(25): Show |
28 | 366 | 0.0765 | -6 | c.*47 others(17): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 3402 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39059278 | TAAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG01261.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 others(13): Show |
16 | 366 | 0.0437 | -6 | c.150 others(25): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 13/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39080853 | CAACAAA | C | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0004t0001g0006 others(2): Show |
5 | 366 | 0.0137 | -6 | c.829 others(23): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39081823 | ATATACT | A | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0004t0001g0006 others(2): Show |
5 | 366 | 0.0137 | -6 | c.828 others(23): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39083563 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(51): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0243 a0001c0001t0001g0248 others(50): Show |
54 | 366 | 0.1475 | -6 | c.828 others(23): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 7/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094440 | ATATTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01256.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0307 a0002c0002t0001g0311 others(6): Show |
9 | 366 | 0.0246 | -6 | c.222 others(23): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39094442 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG02683.hp1 others(3): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0008 a0002c0002t0001g0309 a0002c0002t0001g0310 others(3): Show |
6 | 366 | 0.0164 | -6 | c.222 others(23): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | |||||||
SEC23B_chr20_18502940_18566415 | 18515208 | GATATAA | G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0231 a0001c0001t0001g0252 a0001c0001t0002g0027 others(1): Show |
5 | 410 | 0.0122 | -6 | c.280 others(21): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC23B_chr20_18502940_18566415 | 18564131 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(217): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0003a0005c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0002others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(185): Show |
220 | 410 | 0.5366 | -6 | c.*33 others(17): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 2717 | chr20 | TogoVar | |||||||
SEC23IP_chr10_119887730_119949657 | 119894892 | CTGTGTG | C | intron_variant | MODIFIER | HG01993.hp2 HG03669.hp1 NA18960.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0004others(1): Show | a0001c0001t0001g0210 a0001c0001t0003g0150 a0001c0003t0004g0293 others(1): Show |
4 | 400 | 0.0100 | -6 | c.163 others(23): Show |
SEC23IP | ENSG00000107651.15 | transcript | ENST00000369075.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134673450 | GTTGTTT | G | intron_variant | MODIFIER | HG00621.hp1 HG01433.hp1 HG03942.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0014 others(3): Show |
6 | 318 | 0.0189 | -6 | c.818 others(23): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134681442 | TTGTGTG | T | intron_variant | MODIFIER | HG01433.hp1 HG02145.hp2 HG02258.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0002a0005c0012t0002 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 others(8): Show |
11 | 318 | 0.0346 | -6 | c.138 others(23): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24A_chr5_134643785_134732909 | 134705070 | TTATATA | T | intron_variant | MODIFIER | HG01099.hp2 HG02615.hp1 HG02818.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0042 others(5): Show |
9 | 318 | 0.0283 | -6 | c.244 others(23): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109439474 | ATTTTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00735.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0129 a0001c0001t0001g0130 others(17): Show |
21 | 222 | 0.0946 | -6 | c.133 others(23): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109441701 | CATGTGT | C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp1 others(21): Show |
a0001a0004a0006others(1): Show | a0001c0002a0001c0008a0004c0007others(2): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(4): Show | a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0110 others(21): Show |
24 | 222 | 0.1081 | -6 | c.133 others(23): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | chr4 | TogoVar | |||||||
SEC24B_chr4_109428815_109545896 | 109482936 | CTATATA | C | intron_variant | MODIFIER | HG01175.hp1 HG02056.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0016 | a0001c0001t0001g0066 a0001c0001t0001g0159 a0001c0001t0001g0160 others(7): Show |
10 | 222 | 0.0451 | -6 | c.116 others(25): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483034 | TTATATA | T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01243.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(28): Show |
32 | 222 | 0.1441 | -6 | c.116 others(25): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483050 | ATGTATT | A | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01243.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(28): Show |
32 | 222 | 0.1441 | -6 | c.116 others(25): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109528745 | AACTTAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01167.hp2 others(19): Show |
a0001a0004a0006others(1): Show | a0001c0002a0004c0007a0006c0014others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(3): Show | a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0110 others(19): Show |
22 | 222 | 0.0991 | -6 | c.307 others(25): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24D_chr4_118717823_118841126 | 118756122 | GAGAGAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(149): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(147): Show |
152 | 300 | 0.5067 | -6 | c.142 others(25): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 11/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118804885 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp1 HG02083.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0241 a0001c0001t0001g0290 a0001c0002t0001g0004 others(2): Show |
6 | 300 | 0.0200 | -6 | c.913 others(21): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 7/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118810074 | CTGTGTG | C | intron_variant | MODIFIER | HG01433.hp1 HG03453.hp2 NA18946.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0036 a0001c0001t0001g0251 a0001c0002t0001g0164 |
3 | 300 | 0.0100 | -6 | c.802 others(23): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 6/22 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841442 | TTATATA | T | intron_variant | MODIFIER | HG02738.hp2 HG03654.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 |
3 | 328 | 0.0092 | -6 | c.296 others(23): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82865536 | GTATATA | G | intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(4): Show |
7 | 328 | 0.0213 | -6 | c.119 others(23): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 10/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82888368 | AAAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00558.hp1 others(91): Show |
a0001a0006a0007others(1): Show | a0001c0002a0001c0007a0001c0018others(4): Show | a0001c0002t0001a0001c0007t0001a0001c0018t0001others(4): Show | a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 others(91): Show |
94 | 328 | 0.2866 | -6 | c.-5+ others(21): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107863971 | CGTGTGT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0105 others(47): Show |
50 | 332 | 0.1506 | -6 | c.*77 others(17): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 3784 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107869772 | GTTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(201): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(32): Show | a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0060 others(199): Show |
204 | 332 | 0.6145 | -6 | c.*19 others(17): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 21/21 | 1926 | chr6 | TogoVar | ||||||
SEC63_chr6_107862756_107963208 | 107875020 | ATTTTGT | A | intron_variant | MODIFIER | HG01074.hp1 HG01346.hp1 HG01361.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0038 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0246 others(8): Show |
11 | 332 | 0.0331 | -6 | c.203 others(25): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 19/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107933669 | TCTGCCC | T | intron_variant | MODIFIER | HG02040.hp2 HG02056.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0019g0044 others(1): Show |
4 | 332 | 0.0121 | -6 | c.125 others(23): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 48993100 | AGTGTGT | A | intron_variant | MODIFIER | HG00735.hp2 NA18945.hp2 NA18963.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0265 a0001c0001t0001g0274 others(3): Show |
9 | 378 | 0.0238 | -6 | c.262 others(23): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 17/17 | chr15 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49037272 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 others(14): Show |
17 | 378 | 0.0450 | -6 | c.203 others(21): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 2/17 | chr15 | TogoVar | |||||||
SECISBP2_chr9_89313500_89364663 | 89347465 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(51): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0007c0008t0002 | a0001c0001t0001g0076 a0001c0001t0002g0003 a0001c0001t0002g0005 others(33): Show |
54 | 380 | 0.1421 | -6 | c.160 others(23): Show |
SECISBP2 | ENSG00000187742.15 | transcript | ENST00000375807.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SECTM1_chr17_82316024_82338766 | 82323969 | ATGGGAG | A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01109.hp1 others(16): Show |
a0002 | a0002c0003a0002c0013 | a0002c0003t0003a0002c0003t0009a0002c0003t0013others(6): Show | a0002c0003t0003g0020 a0002c0003t0003g0021 a0002c0003t0003g0115 others(12): Show |
19 | 374 | 0.0508 | -6 | c.403 others(21): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 3/4 | chr17 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13844361 | AGTGTGT | A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp1 others(56): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0001 | a0001c0001t0001g0074 a0001c0001t0001g0133 a0001c0001t0001g0143 others(56): Show |
59 | 324 | 0.1821 | -6 | c.*51 others(17): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 4885 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13848555 | GAGAAGA | G | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00738.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0309 a0001c0004t0001g0310 a0001c0004t0001g0312 others(1): Show |
4 | 324 | 0.0124 | -6 | c.*92 others(15): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 691 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13876406 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02258.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0095 others(5): Show |
8 | 324 | 0.0247 | -6 | c.102 others(23): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 11/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13932407 | AATTATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(5): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(131): Show |
135 | 324 | 0.4167 | -6 | c.115 others(21): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25788569 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp1 others(118): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 others(117): Show |
121 | 312 | 0.3878 | -6 | c.207 others(23): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 12/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25831507 | AATAATT | A | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG00741.hp2 others(31): Show |
a0001a0003a0019 | a0001c0001a0003c0004a0019c0035 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0107 a0001c0001t0001g0175 a0001c0001t0001g0182 others(31): Show |
34 | 312 | 0.1090 | -6 | c.109 others(25): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 5/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25831510 | AATTATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00597.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0050 a0001c0001t0001g0117 a0001c0001t0001g0136 others(67): Show |
70 | 312 | 0.2244 | -6 | c.109 others(25): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 5/23 | chr4 | TogoVar | |||||||
SEL1L_chr14_81466547_81538853 | 81510472 | ATCTCTC | A | intron_variant | MODIFIER | HG01517.hp2 HG01891.hp1 NA18612.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0172 others(5): Show |
9 | 360 | 0.0250 | -6 | c.341 others(23): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 3/20 | chr14 | TogoVar | |||||||
SEL1L_chr14_81466547_81538853 | 81527438 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(106): Show |
a0001a0003a0006 | a0001c0001a0003c0007a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0091 others(96): Show |
109 | 360 | 0.3028 | -6 | c.108 others(21): Show |
SEL1L | ENSG00000071537.14 | transcript | ENST00000336735.9 | protein_coding | 2/20 | chr14 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86884346 | TACACAC | T | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03453.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0084 a0001c0001t0004g0053 a0001c0001t0004g0054 others(4): Show |
8 | 226 | 0.0354 | -6 | c.253 others(23): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SELENOH_chr11_57736491_57748550 | 57747502 | TTTTTTG | T | downstream_gene_variant | MODIFIER | NA18747.hp1 NA18947.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 368 | 0.0109 | -6 | c.*46 others(17): Show |
SELENOH | ENSG00000211450.11 | transcript | ENST00000534355.6 | protein_coding | 3953 | chr11 | TogoVar | |||||||
SELENOI_chr2_26341143_26400885 | 26348996 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0022others(6): Show | a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 others(50): Show |
62 | 334 | 0.1856 | -6 | c.57+ others(21): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |