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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOAT1_chr1_179288797_179363680 | 179295966 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0015others(1): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0024others(8): Show | a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 others(17): Show |
20 | 25 | 0.8000 | -9 | c.-9+ others(24): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179344352 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01167.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0033a0001c0001t0071others(4): Show | a0001c0001t0003g0088 a0001c0001t0003g0093 a0001c0001t0003g0099 others(17): Show |
20 | 28 | 0.7143 | -9 | c.988 others(24): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
SOBP_chr6_107485117_107666306 | 107591968 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(81): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 others(81): Show |
84 | 109 | 0.7706 | -9 | c.669 others(26): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107617820 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02083.hp1 NA18942.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0023a0001c0001t0029others(2): Show | a0001c0001t0018g0077 a0001c0001t0018g0082 a0001c0001t0023g0277 others(4): Show |
7 | 158 | 0.0443 | -9 | c.670 others(28): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS1_chr16_11249417_11261204 | 11253099 | AAAAGAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01993.hp1 HG02027.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(5): Show |
23 | 429 | 0.0536 | -9 | c.*17 others(20): Show |
SOCS1 | ENSG00000185338.7 | transcript | ENST00000332029.4 | protein_coding | 1317 | chr16 | TogoVar | |||||||
SOCS4_chr14_55022236_55054489 | 55041424 | CATTTGTA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(140): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0012 others(79): Show |
143 | 392 | 0.3648 | -9 | c.-90 others(26): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36837547 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02280.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0192 a0001c0001t0002g0102 a0001c0001t0013g0059 others(4): Show |
7 | 61 | 0.1148 | -9 | c.912 others(26): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 2/14 | chr20 | TogoVar | |||||||
SOHLH1_chr9_135688407_135704481 | 135695929 | CCAGGCAG others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0010 | a0001c0001t0001a0001c0014t0001a0002c0010t0001 | a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0014t0001g0048 others(1): Show |
8 | 416 | 0.0192 | -9 | c.661 others(24): Show |
SOHLH1 | ENSG00000165643.11 | transcript | ENST00000425225.2 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36187309 | AATAAATG others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 others(1): Show |
4 | 418 | 0.0096 | -9 | c.641 others(26): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36196117 | TAGATAGA others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02630.hp2 HG02647.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0004t0001g0244 others(7): Show |
11 | 418 | 0.0263 | -9 | c.264 others(26): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 2/10 | chr13 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33580463 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(42): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(6): Show | a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0114 others(32): Show |
45 | 53 | 0.8491 | -9 | c.*40 others(20): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 2983 | chr21 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95413966 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG02027.hp1 others(29): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0003a0001c0001t0033a0001c0002t0001others(15): Show | a0001c0001t0003g0104 a0001c0001t0033g0282 a0001c0002t0001g0018 others(29): Show |
32 | 66 | 0.4848 | -9 | c.810 others(24): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 9/32 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106598236 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0001a0004 | a0001c0002a0004c0023 | a0001c0002t0006a0004c0023t0006 | a0001c0002t0006g0051 a0004c0023t0006g0091 |
2 | 25 | 0.0800 | -9 | c.316 others(26): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106624346 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(33): Show |
a0001a0003a0004others(5): Show | a0001c0002a0001c0003a0001c0004others(8): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(16): Show | a0001c0002t0001g0041 a0001c0002t0001g0095 a0001c0002t0004g0043 others(33): Show |
36 | 37 | 0.9730 | -9 | c.266 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 19/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106645716 | ATGTTTAT others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01993.hp1 others(16): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0037 a0001c0002t0001g0108 a0001c0002t0001g0122 others(16): Show |
19 | 130 | 0.1462 | -9 | c.247 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 18/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106726359 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG02965.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0002a0001c0005t0001a0001c0007t0016others(1): Show | a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0061 others(3): Show |
6 | 42 | 0.1429 | -9 | c.102 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 6/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106957156 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01081.hp2 others(12): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(10): Show | a0001c0001t0001g0024 a0001c0001t0004g0072 a0001c0002t0001g0108 others(12): Show |
15 | 130 | 0.1154 | -9 | c.559 others(24): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106992817 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 NA21309.hp1 |
a0001a0013 | a0001c0002a0001c0014a0013c0017 | a0001c0002t0004a0001c0014t0001a0013c0017t0003 | a0001c0002t0004g0043 a0001c0014t0001g0068 a0013c0017t0003g0020 |
3 | 130 | 0.0231 | -9 | c.559 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107021513 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp1 others(14): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0020a0001c0002t0004a0001c0002t0006others(11): Show | a0001c0001t0020g0021 a0001c0002t0004g0043 a0001c0002t0006g0049 others(14): Show |
17 | 25 | 0.6800 | -9 | c.559 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107074039 | ACATCGTC others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG03209.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0045 a0001c0003t0002g0047 |
2 | 130 | 0.0154 | -9 | c.558 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7223872 | CTGTTAAG others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(71): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(64): Show | a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0097 others(71): Show |
74 | 124 | 0.5968 | -9 | c.480 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7294978 | TCCTCCTC others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp1 |
a0001 | a0001c0010a0001c0048 | a0001c0010t0026a0001c0048t0001 | a0001c0010t0026g0105 a0001c0048t0001g0146 |
2 | 168 | 0.0119 | -9 | c.481 others(30): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7314323 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp1 others(1): Show |
a0001a0013 | a0001c0002a0001c0006a0013c0055 | a0001c0002t0007a0001c0006t0002a0013c0055t0006 | a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0006t0002g0165 others(1): Show |
4 | 168 | 0.0238 | -9 | c.481 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7363229 | TCATCACC others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG03195.hp2 others(1): Show |
a0001a0003 | a0001c0003a0001c0009a0003c0012 | a0001c0003t0020a0001c0009t0001a0003c0012t0034others(1): Show | a0001c0003t0020g0043 a0001c0009t0001g0151 a0003c0012t0034g0010 others(1): Show |
4 | 168 | 0.0238 | -9 | c.481 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7400461 | CCCACCAC others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01192.hp1 HG01258.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0001c0006others(10): Show | a0001c0002t0021a0001c0002t0053a0001c0005t0003others(11): Show | a0001c0002t0021g0090 a0001c0002t0053g0115 a0001c0005t0003g0032 others(12): Show |
15 | 120 | 0.1250 | -9 | c.548 others(26): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7410949 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02451.hp1 others(9): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0055a0001c0001t0058others(9): Show | a0001c0001t0003g0097 a0001c0001t0055g0092 a0001c0001t0058g0161 others(9): Show |
12 | 33 | 0.3636 | -9 | c.548 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7449103 | TCCTCCCT others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG03540.hp2 others(1): Show |
a0001a0005a0012 | a0001c0001a0001c0009a0005c0022others(1): Show | a0001c0001t0003a0001c0009t0037a0005c0022t0033others(1): Show | a0001c0001t0003g0168 a0001c0009t0037g0042 a0005c0022t0033g0153 others(1): Show |
4 | 55 | 0.0727 | -9 | c.548 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7477385 | ATTGGGGC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01109.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0012a0001c0002t0044others(3): Show | a0001c0001t0007g0111 a0001c0001t0012g0047 a0001c0002t0044g0019 others(3): Show |
6 | 168 | 0.0357 | -9 | c.549 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7514466 | TTGTCAGG others(2): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0014a0001c0048 | a0001c0001t0055a0001c0014t0001a0001c0048t0001 | a0001c0001t0055g0092 a0001c0014t0001g0040 a0001c0048t0001g0146 |
3 | 168 | 0.0179 | -9 | c.549 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7565838 | GTGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(62): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(50): Show | a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0003g0003 others(62): Show |
65 | 168 | 0.3869 | -9 | c.648 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7572409 | CATTTAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 NA18522.hp2 |
a0001a0003a0005 | a0001c0003a0003c0013a0005c0021 | a0001c0003t0014a0003c0013t0018a0005c0021t0056 | a0001c0003t0014g0034 a0003c0013t0018g0100 a0005c0021t0056g0103 |
3 | 168 | 0.0179 | -9 | c.648 others(28): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7724492 | GTGGTGAC others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG03209.hp2 NA18522.hp1 |
a0001a0005 | a0001c0001a0001c0037a0005c0020 | a0001c0001t0006a0001c0037t0017a0005c0020t0017 | a0001c0001t0006g0125 a0001c0037t0017g0017 a0005c0020t0017g0037 |
3 | 162 | 0.0185 | -9 | c.261 others(26): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104706201 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp1 HG01167.hp1 others(2): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0007c0019others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0008others(2): Show | a0001c0001t0002g0065 a0001c0001t0004g0066 a0001c0002t0008g0013 others(2): Show |
5 | 98 | 0.0510 | -9 | c.627 others(28): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105009523 | CAAACAAA others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0023 a0001c0001t0003g0033 a0001c0001t0003g0079 others(3): Show |
6 | 134 | 0.0448 | -9 | c.954 others(28): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109378753 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01928.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0114 a0001c0001t0002g0070 |
2 | 237 | 0.0084 | -9 | c.307 others(26): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39026366 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(132): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 others(132): Show |
135 | 244 | 0.5533 | -9 | c.107 others(28): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 8/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50160379 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(73): Show |
76 | 92 | 0.8261 | -9 | c.119 others(26): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 9/22 | chr14 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23540361 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0063 | a0001c0001t0010g0003 a0001c0001t0010g0184 a0001c0001t0063g0140 |
3 | 52 | 0.0577 | -9 | c.177 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570931 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG03130.hp1 NA18994.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0038a0001c0001t0083a0001c0002t0005 | a0001c0001t0038g0168 a0001c0001t0083g0090 a0001c0002t0005g0101 |
3 | 148 | 0.0203 | -9 | c.134 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23578117 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00735.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014a0001c0001t0015others(26): Show | a0001c0001t0013g0177 a0001c0001t0014g0097 a0001c0001t0015g0091 others(30): Show |
33 | 44 | 0.7500 | -9 | c.116 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23872164 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0182 a0001c0001t0003g0086 a0001c0001t0013g0177 others(2): Show |
5 | 90 | 0.0556 | -9 | c.270 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 2/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16191844 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp2 HG01175.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0020 others(19): Show |
22 | 216 | 0.1019 | -9 | c.536 others(26): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 977686 | AGGGGGAC others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp2 others(56): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0042a0001c0002t0003a0001c0002t0004others(17): Show | a0001c0001t0042g0042 a0001c0002t0003g0003 a0001c0002t0003g0037 others(23): Show |
59 | 432 | 0.1366 | -9 | c.-42 others(20): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 4083 | chr16 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230472427 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(41): Show |
a0003a0004 | a0003c0004a0004c0006a0004c0015 | a0003c0004t0002a0003c0004t0003a0003c0004t0004others(2): Show | a0003c0004t0002g0113 a0003c0004t0002g0117 a0003c0004t0002g0134 others(41): Show |
44 | 171 | 0.2573 | -9 | c.143 others(26): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02622.hp1 others(7): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0007a0001c0003t0004a0001c0003t0007others(4): Show | a0001c0001t0007g0079 a0001c0003t0004g0099 a0001c0003t0004g0249 others(7): Show |
10 | 11 | 0.9091 | -9 | c.205 others(26): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230512276 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(16): Show |
a0001a0003a0005 | a0001c0003a0003c0004a0005c0008 | a0001c0003t0003a0001c0003t0005a0003c0004t0003others(1): Show | a0001c0003t0003g0110 a0001c0003t0003g0188 a0001c0003t0003g0273 others(16): Show |
19 | 85 | 0.2235 | -9 | c.209 others(28): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230199304 | GTTCAAGC others(2): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02818.hp2 others(2): Show |
a0014 | a0014c0015 | a0014c0015t0006 | a0014c0015t0006g0011 a0014c0015t0006g0044 a0014c0015t0006g0175 others(1): Show |
5 | 426 | 0.0117 | -9 | c.112 others(28): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 10/18 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230256367 | TTTGTAGG others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02451.hp2 HG02970.hp2 |
a0007 | a0007c0012a0007c0017 | a0007c0012t0001a0007c0017t0001 | a0007c0012t0001g0024 a0007c0012t0001g0025 a0007c0017t0001g0061 |
3 | 368 | 0.0082 | -9 | c.124 others(26): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 12/26 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230288509 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03669.hp2 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0310 |
3 | 363 | 0.0083 | -9 | c.172 others(26): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21440880 | ACAACAAC others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0010a0001c0005t0008a0001c0005t0026 | a0001c0001t0010g0280 a0001c0005t0008g0250 a0001c0005t0008g0251 others(2): Show |
5 | 424 | 0.0118 | -9 | c.167 others(30): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |