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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEC13_chr3_10295931_10326112 | 10325399 | CGAAGA | C | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02083.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0190 |
3 | 380 | 0.0079 | -5 | c.-43 others(16): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 4288 | chr3 | TogoVar | |||||||
SEC14L1_chr17_77135969_77222101 | 77145153 | ATTTGT | A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00673.hp1 others(57): Show |
a0001a0005a0006others(3): Show | a0001c0001a0005c0009a0006c0013others(3): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0030others(11): Show | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0020 others(55): Show |
60 | 430 | 0.1395 | -5 | c.63+ others(20): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77167146 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(8): Show | a0001c0001t0003g0007 a0001c0001t0003g0021 a0001c0001t0003g0106 others(75): Show |
80 | 430 | 0.1861 | -5 | c.63+ others(22): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77180036 | ATGTTT | A | intron_variant | MODIFIER | HG01891.hp1 HG02273.hp2 HG02735.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(4): Show | a0001c0001t0001g0273 a0001c0001t0008g0399 a0001c0001t0008g0406 others(7): Show |
10 | 430 | 0.0233 | -5 | c.64- others(22): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L1_chr17_77135969_77222101 | 77180046 | TTGTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp2 others(116): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0002c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(24): Show | a0001c0001t0002g0005 a0001c0001t0002g0066 a0001c0001t0002g0068 others(111): Show |
119 | 430 | 0.2767 | -5 | c.64- others(22): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEC14L2_chr22_30392018_30430303 | 30419937 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG02257.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0024a0001c0001t0033a0002c0002t0022others(2): Show | a0001c0001t0024g0191 a0001c0001t0033g0241 a0002c0002t0022g0146 others(6): Show |
11 | 420 | 0.0262 | -5 | c.108 others(24): Show |
SEC14L2 | ENSG00000100003.18 | transcript | ENST00000615189.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEC14L3_chr22_30454229_30477017 | 30457377 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(311): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0007a0003c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(123): Show |
314 | 454 | 0.6916 | -5 | c.*26 others(16): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 1851 | chr22 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4962686 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0016a0001c0001t0034a0001c0002t0002others(4): Show | a0001c0001t0016g0128 a0001c0001t0034g0134 a0001c0002t0002g0127 others(11): Show |
14 | 376 | 0.0372 | -5 | c.63+ others(20): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4967561 | CGTTTT | C | intron_variant | MODIFIER | HG01928.hp1 HG01978.hp1 HG01981.hp2 others(4): Show |
a0001a0004a0012 | a0001c0002a0001c0003a0001c0011others(2): Show | a0001c0002t0002a0001c0002t0008a0001c0003t0003others(3): Show | a0001c0002t0002g0140 a0001c0002t0002g0191 a0001c0002t0008g0120 others(4): Show |
7 | 376 | 0.0186 | -5 | c.63+ others(20): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | chr16 | TogoVar | |||||||
SEC14L5_chr16_4953330_5024157 | 4967562 | GTTTTT | G | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0056a0001c0002t0002a0001c0008t0028others(2): Show | a0001c0001t0056g0236 a0001c0002t0002g0119 a0001c0002t0002g0212 others(4): Show |
7 | 376 | 0.0186 | -5 | c.63+ others(20): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4985799 | AATTAT | A | intron_variant | MODIFIER | HG02071.hp2 HG02080.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0282 a0001c0001t0003g0285 a0001c0001t0003g0289 others(1): Show |
4 | 376 | 0.0106 | -5 | c.64- others(20): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L5_chr16_4953330_5024157 | 4993025 | TAACTA | T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0020a0001c0002t0006a0001c0002t0013others(2): Show | a0001c0001t0020g0243 a0001c0002t0006g0130 a0001c0002t0006g0131 others(7): Show |
10 | 376 | 0.0266 | -5 | c.667 others(21): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC14L6_chr22_30517799_30551741 | 30540367 | CTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0033a0001c0003t0011a0001c0007t0012 | a0001c0001t0033g0276 a0001c0003t0011g0022 a0001c0003t0011g0071 others(2): Show |
7 | 396 | 0.0177 | -5 | c.55- others(20): Show |
SEC14L6 | ENSG00000214491.9 | transcript | ENST00000402034.7 | protein_coding | 1/11 | chr22 | TogoVar | |||||||
SEC16A_chr9_136435105_136488040 | 136452449 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp1 others(42): Show |
a0001a0028a0032others(1): Show | a0001c0002a0001c0006a0028c0030others(2): Show | a0001c0002t0002a0001c0006t0002a0001c0006t0015others(3): Show | a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0007 others(32): Show |
45 | 306 | 0.1471 | -5 | c.615 others(22): Show |
SEC16A | ENSG00000148396.19 | transcript | ENST00000684901.1 | protein_coding | 22/31 | chr9 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123203053 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0163 a0001c0001t0003g0056 a0001c0001t0003g0057 others(4): Show |
7 | 340 | 0.0206 | -5 | c.-20 others(22): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123205675 | TCAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0111 a0001c0001t0002g0071 a0001c0001t0002g0072 others(64): Show |
67 | 340 | 0.1971 | -5 | c.-19 others(22): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123250827 | GTATTT | G | intron_variant | MODIFIER | HG00735.hp1 HG02572.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0102 a0001c0001t0007g0103 a0001c0001t0007g0126 others(1): Show |
4 | 340 | 0.0118 | -5 | c.657 others(22): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123260131 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0001g0160 a0001c0001t0001g0179 a0001c0001t0001g0205 others(22): Show |
25 | 340 | 0.0735 | -5 | c.723 others(20): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC22A_chr3_123196943_123279136 | 123275193 | TTATTG | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0141 a0001c0001t0006g0101 a0001c0001t0006g0151 others(2): Show |
5 | 340 | 0.0147 | -5 | c.*34 others(16): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 1058 | chr3 | TogoVar | |||||||
SEC22B_chr1_120145898_120181520 | 120174472 | TCTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00741.hp1 others(111): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(29): Show | a0001c0002t0003g0024 a0001c0002t0003g0034 a0001c0002t0003g0035 others(68): Show |
114 | 380 | 0.3000 | -5 | c.75+ others(20): Show |
SEC22B | ENSG00000265808.4 | transcript | ENST00000578049.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39065997 | CAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0245 a0001c0001t0002g0246 others(3): Show |
7 | 366 | 0.0191 | -5 | c.122 others(24): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 10/19 | chr14 | TogoVar | |||||||
SEC24A_chr5_134643785_134732909 | 134710212 | CTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG01358.hp2 HG02004.hp2 others(17): Show |
a0001a0003a0009 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0018 others(16): Show |
20 | 318 | 0.0629 | -5 | c.272 others(24): Show |
SEC24A | ENSG00000113615.13 | transcript | ENST00000398844.7 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109439474 | ATTTTT | A | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG01928.hp1 others(13): Show |
a0001a0008 | a0001c0001a0001c0012a0001c0016others(1): Show | a0001c0001t0001a0001c0012t0001a0001c0016t0003others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0146 a0001c0001t0001g0147 others(13): Show |
16 | 222 | 0.0721 | -5 | c.133 others(22): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109453440 | GCCCCC | G | intron_variant | MODIFIER | HG01167.hp2 HG01258.hp2 HG01361.hp1 others(21): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 others(21): Show |
24 | 222 | 0.1081 | -5 | c.134 others(22): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24D_chr4_118717823_118841126 | 118806986 | CAAAAT | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02572.hp1 others(3): Show |
a0002a0006a0013 | a0002c0006a0006c0013a0013c0012 | a0002c0006t0001a0006c0013t0001a0013c0012t0001 | a0002c0006t0001g0051 a0002c0006t0001g0052 a0002c0006t0001g0055 others(3): Show |
6 | 300 | 0.0200 | -5 | c.802 others(22): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 6/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118809720 | TAGAGA | T | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 NA20129.hp1 |
a0001a0018 | a0001c0009a0018c0024 | a0001c0009t0001a0018c0024t0001 | a0001c0009t0001g0293 a0001c0009t0001g0294 a0018c0024t0001g0292 |
3 | 300 | 0.0100 | -5 | c.802 others(22): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 6/22 | chr4 | TogoVar | |||||||
SEC24D_chr4_118717823_118841126 | 118834524 | TTTAAA | T | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp1 NA20129.hp1 |
a0001a0018 | a0001c0009a0018c0024 | a0001c0009t0001a0018c0024t0001 | a0001c0009t0001g0293 a0001c0009t0001g0294 a0018c0024t0001g0292 |
3 | 300 | 0.0100 | -5 | c.-41 others(20): Show |
SEC24D | ENSG00000150961.15 | transcript | ENST00000280551.11 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82876107 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(118): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0003c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0003c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(115): Show |
121 | 328 | 0.3689 | -5 | c.403 others(20): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 4/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82887388 | GAGAAA | G | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02976.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0125 others(6): Show |
9 | 328 | 0.0274 | -5 | c.-5+ others(20): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12163312 | CTTTTT | C | intron_variant | MODIFIER | HG02451.hp2 HG02809.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0001a0001c0007t0001 | a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0129 others(3): Show |
6 | 360 | 0.0167 | -5 | c.124 others(22): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SEC61G_chr7_54747253_54764211 | 54756256 | TCATAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01243.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(2): Show |
41 | 406 | 0.1010 | -5 | c.95- others(18): Show |
SEC61G | ENSG00000132432.14 | transcript | ENST00000352861.9 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
SEC62_chr3_169961807_170003373 | 169990002 | TATATC | T | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0004others(2): Show | a0001c0001t0001g0101 a0001c0001t0010g0087 a0001c0002t0004g0006 others(4): Show |
14 | 336 | 0.0417 | -5 | c.730 others(22): Show |
SEC62 | ENSG00000008952.17 | transcript | ENST00000337002.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC63_chr6_107862756_107963208 | 107869772 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02145.hp2 others(9): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0014a0001c0001t0021a0001c0001t0031others(6): Show | a0001c0001t0014g0314 a0001c0001t0014g0317 a0001c0001t0014g0320 others(9): Show |
12 | 332 | 0.0361 | -5 | c.*19 others(16): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 21/21 | 1927 | chr6 | TogoVar | ||||||
SEC63_chr6_107862756_107963208 | 107918903 | CCTTTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0021others(2): Show | a0001c0001t0009g0175 a0001c0001t0014g0314 a0001c0001t0014g0317 others(6): Show |
9 | 332 | 0.0271 | -5 | c.452 others(22): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 4/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107935791 | AAAAAT | A | intron_variant | MODIFIER | HG01099.hp2 HG02922.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0019g0044 others(1): Show |
4 | 332 | 0.0121 | -5 | c.125 others(22): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107938023 | TTTTAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0163 others(2): Show |
5 | 332 | 0.0151 | -5 | c.125 others(22): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107954828 | ACAACT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp2 others(67): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(10): Show | a0001c0002t0001g0005 a0001c0002t0002g0001 a0001c0002t0002g0008 others(61): Show |
70 | 332 | 0.2108 | -5 | c.124 others(22): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1/20 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49037272 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(93): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0022others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(76): Show |
96 | 378 | 0.2540 | -5 | c.203 others(20): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 2/17 | chr15 | TogoVar | |||||||
SECISBP2_chr9_89313500_89364663 | 89329105 | CGTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0043 a0001c0001t0001g0232 a0001c0001t0001g0236 others(3): Show |
7 | 380 | 0.0184 | -5 | c.801 others(20): Show |
SECISBP2 | ENSG00000187742.15 | transcript | ENST00000375807.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SECTM1_chr17_82316024_82338766 | 82338332 | GATTAC | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(137): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(55): Show |
140 | 374 | 0.3743 | -5 | c.-46 others(16): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 4567 | chr17 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12951843 | ATTTTC | A | splice_region_variant others(1): Show |
LOW | HG01167.hp1 HG02630.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 others(2): Show |
5 | 388 | 0.0129 | -5 | c.112 others(16): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12980833 | ACTTCC | A | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 |
3 | 388 | 0.0077 | -5 | c.762 others(22): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13929487 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0295 a0001c0001t0001g0296 others(4): Show |
7 | 324 | 0.0216 | -5 | c.283 others(22): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 3/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25755251 | TTTTTA | T | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01074.hp2 others(108): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0003a0001c0006others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0036 others(106): Show |
111 | 312 | 0.3558 | -5 | c.325 others(24): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 23/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25789584 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00735.hp1 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0258 others(52): Show |
55 | 312 | 0.1763 | -5 | c.207 others(22): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 12/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25816131 | CATAAT | C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02809.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0293 a0001c0001t0002g0295 a0001c0001t0003g0149 others(5): Show |
8 | 312 | 0.0256 | -5 | c.156 others(24): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 9/23 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25825666 | ATTTTT | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
a0001a0010a0014 | a0001c0001a0001c0010a0010c0039others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0022others(3): Show | a0001c0001t0001g0121 a0001c0001t0002g0163 a0001c0001t0002g0259 others(5): Show |
8 | 312 | 0.0256 | -5 | c.115 others(24): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 6/23 | chr4 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86869631 | ATACTT | A | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(4): Show |
7 | 226 | 0.0310 | -5 | c.317 others(22): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86884467 | ATAACT | A | intron_variant | MODIFIER | HG02965.hp1 HG03098.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0061 |
3 | 226 | 0.0133 | -5 | c.253 others(22): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SELENOF_chr1_86857445_86919126 | 86898763 | TTTTTG | T | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(7): Show |
10 | 226 | 0.0443 | -5 | c.252 others(22): Show |
SELENOF | ENSG00000183291.18 | transcript | ENST00000331835.10 | protein_coding | 2/4 | chr1 | TogoVar |