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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCG5_chr15_32636710_32702092 | 32688963 | A | AAAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(213): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(201): Show |
216 | 396 | 0.5455 | 7 | c.490 others(24): Show |
SCG5 | ENSG00000166922.9 | transcript | ENST00000300175.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SCGB2A1_chr11_62203673_62218943 | 62209678 | T | TGTGTGTG | intron_variant | MODIFIER | HG02083.hp1 HG02738.hp2 NA18954.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 5 | 433 | 0.0115 | 7 | c.56- others(20): Show |
SCGB2A1 | ENSG00000124939.6 | transcript | ENST00000244930.6 | protein_coding | 1/2 | chr11 | TogoVar | |||||||
SCGB2B2_chr19_34585644_34682159 | 34642714 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00733.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(48): Show |
55 | 176 | 0.3125 | 7 | c.-20 others(30): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
SCGB3A1_chr5_180585105_180596499 | 180587310 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 |
16 | 94 | 0.1702 | 7 | c.*29 others(18): Show |
SCGB3A1 | ENSG00000161055.4 | transcript | ENST00000292641.4 | protein_coding | 2794 | chr5 | TogoVar | |||||||
SCIN_chr7_12565720_12665182 | 12635611 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG02015.hp1 others(15): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(14): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0005g0144 others(15): Show |
18 | 163 | 0.1104 | 7 | c.132 others(24): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12647019 | G | GACTGGTA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(83): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(60): Show | a0001c0001t0001g0146 a0001c0001t0003g0037 a0001c0001t0003g0182 others(82): Show |
86 | 370 | 0.2324 | 7 | c.188 others(26): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SCIN_chr7_12565720_12665182 | 12657572 | A | ATATATAT | 3_prime_UTR_variant | MODIFIER | HG01256.hp2 HG01258.hp2 NA18964.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0052a0001c0001t0053others(1): Show | a0001c0001t0011g0034 a0001c0001t0011g0153 a0001c0001t0011g0190 others(3): Show |
6 | 187 | 0.0321 | 7 | c.*48 others(18): Show |
SCIN | ENSG00000006747.15 | transcript | ENST00000297029.10 | protein_coding | 16/16 | 4859 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SCLY_chr2_238056001_238104413 | 238086708 | T | TAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02145.hp1 others(3): Show |
a0001a0005 | a0001c0005a0005c0007 | a0001c0005t0031a0001c0005t0060a0001c0005t0149others(1): Show | a0001c0005t0031g0272 a0001c0005t0060g0270 a0001c0005t0149g0271 others(3): Show |
6 | 41 | 0.1463 | 7 | c.884 others(24): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCLY_chr2_238056001_238104413 | 238097381 | C | CTGGGGAG | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01081.hp1 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0002c0013others(5): Show | a0001c0004t0002a0001c0004t0033a0001c0004t0057others(29): Show | a0001c0004t0002g0007 a0001c0004t0002g0011 a0001c0004t0002g0018 others(51): Show |
63 | 390 | 0.1615 | 7 | c.118 others(24): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
SCLY_chr2_238056001_238104413 | 238100095 | A | AGAGGCGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(299): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(132): Show | a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0028 others(258): Show |
302 | 390 | 0.7744 | 7 | c.*17 others(18): Show |
SCLY | ENSG00000132330.18 | transcript | ENST00000254663.12 | protein_coding | 683 | chr2 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41058378 | G | GTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01981.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(40): Show |
43 | 74 | 0.5811 | 7 | c.110 others(26): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107726532 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01081.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0171 a0001c0001t0008g0170 others(10): Show |
13 | 72 | 0.1806 | 7 | c.683 others(24): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107822508 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp2 HG02055.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0086 a0001c0001t0003g0084 others(12): Show |
15 | 17 | 0.8824 | 7 | c.-60 others(24): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38769239 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG02818.hp2 others(3): Show |
a0001a0010 | a0001c0003a0001c0007a0010c0026 | a0001c0003t0001a0001c0003t0002a0001c0007t0001others(1): Show | a0001c0003t0001g0093 a0001c0003t0002g0099 a0001c0003t0002g0100 others(3): Show |
6 | 56 | 0.1071 | 7 | c.599 others(24): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 5/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38959464 | A | AAGCTTCC | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0011a0001c0012a0001c0016 | a0001c0011t0011a0001c0012t0001a0001c0016t0001 | a0001c0011t0011g0256 a0001c0011t0011g0257 a0001c0012t0001g0258 others(2): Show |
5 | 312 | 0.0160 | 7 | c.-13 others(24): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 3/29 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 39042974 | A | AAAAAAAG | intron_variant | MODIFIER | HG01192.hp1 HG01517.hp2 HG01891.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0007a0002c0003others(2): Show | a0001c0006t0003a0001c0006t0006a0001c0007t0005others(6): Show | a0001c0006t0003g0288 a0001c0006t0003g0289 a0001c0006t0003g0295 others(29): Show |
32 | 143 | 0.2238 | 7 | c.-40 others(26): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 1/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166118197 | G | GAAGATAC | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01069.hp2 others(31): Show |
a0001a0010 | a0001c0001a0010c0025 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 others(31): Show |
34 | 354 | 0.0960 | 7 | c.-14 others(26): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166118298 | G | GCTTCTTT | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0027 a0001c0001t0002g0052 a0001c0001t0002g0053 others(7): Show |
10 | 257 | 0.0389 | 7 | c.-14 others(26): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165256000 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0202 a0001c0001t0002g0356 a0001c0001t0003g0349 others(8): Show |
11 | 141 | 0.0780 | 7 | c.-52 others(26): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165291491 | T | TTTCTTTC | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG01361.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0214 a0001c0001t0001g0333 a0001c0001t0001g0347 others(27): Show |
30 | 236 | 0.1271 | 7 | c.-51 others(24): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2A_chr2_165234414_165397304 | 165303270 | G | GTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00597.hp2 others(37): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0076 a0001c0001t0002g0122 others(36): Show |
40 | 78 | 0.5128 | 7 | c.387 others(24): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118174091 | C | CTTTTGTT | intron_variant | MODIFIER | HG01123.hp2 HG01257.hp1 HG02559.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0058 a0001c0001t0001g0193 a0001c0001t0003g0013 others(13): Show |
20 | 166 | 0.1205 | 7 | c.70+ others(22): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165086861 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01175.hp2 others(16): Show |
a0001a0004 | a0001c0003a0001c0005a0001c0022others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0013others(4): Show | a0001c0003t0001g0002 a0001c0003t0001g0134 a0001c0003t0001g0142 others(15): Show |
19 | 123 | 0.1545 | 7 | c.*32 others(18): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 664 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165153987 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0084 a0001c0002t0001g0151 a0001c0002t0001g0168 others(37): Show |
40 | 113 | 0.3540 | 7 | c.138 others(24): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 11/27 | chr2 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555106 | T | TATATATA | intron_variant | MODIFIER | HG01517.hp1 NA18963.hp2 NA19056.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0072a0002c0005 | a0001c0002t0001a0001c0072t0001a0002c0005t0001 | a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0072t0001g0151 others(1): Show |
4 | 320 | 0.0125 | 7 | c.454 others(24): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51663903 | A | ATTTTTTT | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp1 HG02602.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0017a0001c0001t0018others(3): Show | a0001c0001t0003g0038 a0001c0001t0003g0041 a0001c0001t0003g0042 others(7): Show |
10 | 71 | 0.1408 | 7 | c.276 others(22): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51679721 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0004g0068 a0001c0001t0006g0072 a0001c0001t0016g0108 others(2): Show |
5 | 49 | 0.1020 | 7 | c.277 others(24): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166199975 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01106.hp2 HG01175.hp1 others(9): Show |
a0001a0002a0025 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(3): Show | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0069 others(9): Show |
12 | 31 | 0.3871 | 7 | c.477 others(24): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166231548 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02622.hp1 others(4): Show |
a0001a0014 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0006a0001c0003t0006a0001c0003t0013others(3): Show | a0001c0002t0006g0269 a0001c0003t0006g0274 a0001c0003t0013g0289 others(4): Show |
7 | 35 | 0.2000 | 7 | c.392 others(26): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 21/26 | chr2 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23346200 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0158 a0001c0001t0001g0280 others(6): Show |
9 | 60 | 0.1500 | 7 | c.-8- others(22): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23365620 | A | AGAGAAAG | intron_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0139 a0001c0003t0001g0206 a0001c0003t0001g0247 |
3 | 181 | 0.0166 | 7 | c.777 others(24): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23374268 | G | GAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01346.hp1 HG01496.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0008 a0001c0001t0001g0052 a0001c0001t0001g0126 others(8): Show |
11 | 93 | 0.1183 | 7 | c.115 others(26): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCCCTGC | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01175.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0012t0001g0129 others(5): Show |
8 | 234 | 0.0342 | 7 | c.166 others(24): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCTCTGC | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01243.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0009a0001c0018others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(9): Show | a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0194 others(24): Show |
27 | 253 | 0.1067 | 7 | c.166 others(24): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289848 | T | TCTCTGCC | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01081.hp2 others(27): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0205 others(27): Show |
30 | 268 | 0.1119 | 7 | c.166 others(24): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2D1_chr20_18808783_18819378 | 18813049 | C | CAGAAAAA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01261.hp1 HG01358.hp1 others(8): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 11 | 404 | 0.0272 | 7 | c.-76 others(16): Show |
SCP2D1 | ENSG00000132631.6 | transcript | ENST00000377428.4 | protein_coding | 733 | chr20 | TogoVar | |||||||
SCP2D1_chr20_18808783_18819378 | 18813058 | A | AAAAAAAG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp1 others(65): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0004t0001g0000 |
68 | 421 | 0.1615 | 7 | c.-75 others(16): Show |
SCP2D1 | ENSG00000132631.6 | transcript | ENST00000377428.4 | protein_coding | 724 | chr20 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52934592 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp2 HG01433.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0219 a0001c0001t0001g0244 a0001c0001t0001g0245 others(4): Show |
7 | 21 | 0.3333 | 7 | c.69+ others(22): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037922 | A | ACACACAC | intron_variant | MODIFIER | HG04199.hp1 NA18522.hp2 NA19240.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0004a0001c0004t0004others(1): Show | a0001c0003t0001g0002 a0001c0003t0001g0004 a0001c0003t0004g0132 others(2): Show |
5 | 243 | 0.0206 | 7 | c.133 others(24): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRN1_chr7_29915109_29994801 | 29984881 | T | TGCAGTCC | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp2 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0267 a0001c0001t0003g0005 a0001c0001t0003g0006 others(37): Show |
44 | 272 | 0.1618 | 7 | c.-2+ others(22): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43347273 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02572.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0004a0001c0018a0001c0020others(9): Show | a0001c0004t0016a0001c0018t0008a0001c0020t0017others(10): Show | a0001c0004t0016g0015 a0001c0018t0008g0256 a0001c0020t0017g0014 others(10): Show |
13 | 103 | 0.1262 | 7 | c.-40 others(18): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 3902 | chr22 | TogoVar | |||||||
SCUBE3_chr6_35208956_35258079 | 35217222 | C | CGGGGGGG | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00741.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0032 others(14): Show |
18 | 64 | 0.2813 | 7 | c.85+ others(22): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCX_chr8_144261453_144273481 | 144273392 | T | TCCAGACC | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0002g0003 a0001c0001t0004g0003 |
11 | 26 | 0.4231 | 7 | c.*52 others(18): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 4912 | chr8 | TogoVar | |||||||
SCX_chr8_144261453_144273481 | 144273392 | T | TCCAGGCC | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 20 | 35 | 0.5714 | 7 | c.*52 others(18): Show |
SCX | ENSG00000260428.3 | transcript | ENST00000567180.3 | protein_coding | 4912 | chr8 | TogoVar | |||||||
SCYGR3_chr2_227609538_227619840 | 227610047 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00735.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(3): Show |
36 | 43 | 0.8372 | 7 | c.*44 others(18): Show |
SCYGR3 | ENSG00000284704.1 | transcript | ENST00000642029.1 | protein_coding | 4490 | chr2 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169850980 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG01258.hp1 HG01261.hp1 HG02132.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0014a0004c0005t0018 | a0001c0001t0014g0049 a0001c0001t0014g0263 a0001c0001t0014g0269 others(6): Show |
10 | 309 | 0.0324 | 7 | c.*27 others(18): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2732 | chr1 | TogoVar | ||||||
SDAD1_chr4_75944915_75995945 | 75994043 | A | ATAATAAT | upstream_gene_variant | MODIFIER | NA18983.hp1 NA18983.hp2 NA18987.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0004 a0001c0002t0001g0019 a0001c0002t0001g0327 others(2): Show |
5 | 245 | 0.0204 | 7 | c.-32 others(18): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3099 | chr4 | TogoVar | |||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | AATAATAT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(55): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0005a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0018 others(51): Show |
58 | 129 | 0.4496 | 7 | c.-32 others(18): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96532412 | G | GTTTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0139 a0001c0001t0002g0073 a0001c0001t0007g0116 others(4): Show |
7 | 149 | 0.0470 | 7 | c.60+ others(24): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96541548 | A | ATGAACTT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0147 a0001c0001t0001g0148 others(11): Show |
14 | 332 | 0.0422 | 7 | c.60+ others(24): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |