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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGCG_chr13_23175979_23330162 | 23298088 | GCTCACAC | G | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01516.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0005t0007others(1): Show | a0001c0001t0002g0172 a0001c0001t0002g0303 a0001c0001t0002g0304 others(9): Show |
13 | 352 | 0.0369 | -7 | c.578 others(24): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23299352 | GCATTACT | G | intron_variant | MODIFIER | HG02976.hp2 HG03225.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0021a0001c0003t0003a0001c0003t0011others(1): Show | a0001c0001t0021g0351 a0001c0003t0003g0096 a0001c0003t0011g0326 others(2): Show |
5 | 352 | 0.0142 | -7 | c.578 others(24): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14240327 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01074.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0002g0095 others(29): Show |
32 | 35 | 0.9143 | -7 | c.337 others(24): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14418591 | GTCAGTTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0015a0001c0001t0059others(1): Show | a0001c0001t0012g0004 a0001c0001t0015g0005 a0001c0001t0059g0056 others(1): Show |
4 | 102 | 0.0392 | -7 | c.235 others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14432914 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01978.hp1 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0031a0001c0001t0032others(2): Show | a0001c0001t0005g0072 a0001c0001t0031g0013 a0001c0001t0032g0016 others(2): Show |
5 | 22 | 0.2273 | -7 | c.235 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14443135 | AAACCACT | A | intron_variant | MODIFIER | HG00438.hp1 HG02280.hp2 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0027a0001c0001t0045others(4): Show | a0001c0001t0019g0028 a0001c0001t0027g0010 a0001c0001t0045g0008 others(4): Show |
7 | 102 | 0.0686 | -7 | c.234 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14551466 | ATATATAT | A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0032a0001c0001t0035others(9): Show | a0001c0001t0002g0079 a0001c0001t0032g0016 a0001c0001t0035g0014 others(9): Show |
12 | 101 | 0.1188 | -7 | c.234 others(24): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14706322 | TTTGACAA | T | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0027a0001c0001t0042others(6): Show | a0001c0001t0013g0026 a0001c0001t0027g0010 a0001c0001t0042g0040 others(6): Show |
9 | 102 | 0.0882 | -7 | c.40- others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14846701 | TCCAAAAA | T | intron_variant | MODIFIER | HG02280.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0059 | a0001c0001t0021g0015 a0001c0001t0059g0056 |
2 | 23 | 0.0870 | -7 | c.40- others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14910186 | TATCTTCC | T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01192.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0016others(24): Show | a0001c0001t0012g0004 a0001c0001t0013g0026 a0001c0001t0016g0022 others(24): Show |
27 | 102 | 0.2647 | -7 | c.39+ others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15106893 | TGTTATAG | T | intron_variant | MODIFIER | HG02004.hp2 NA18612.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0056a0001c0001t0069 | a0001c0001t0006g0083 a0001c0001t0056g0062 a0001c0001t0069g0096 |
3 | 102 | 0.0294 | -7 | c.39+ others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15159752 | ACCCCCGC | A | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0002g0079 a0001c0001t0005g0072 a0001c0001t0006g0091 others(13): Show |
16 | 55 | 0.2909 | -7 | c.39+ others(24): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66530954 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01515.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0078 a0001c0001t0004g0002 a0001c0001t0008g0158 others(10): Show |
13 | 300 | 0.0433 | -7 | c.-34 others(18): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 3198 | chr1 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66683700 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp1 HG01884.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0163 a0001c0001t0001g0201 a0001c0001t0001g0282 others(19): Show |
22 | 75 | 0.2933 | -7 | c.131 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66742460 | CTTTTTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0020a0002c0002t0007 | a0001c0001t0007g0165 a0001c0001t0007g0207 a0001c0001t0007g0255 others(6): Show |
9 | 121 | 0.0744 | -7 | c.246 others(24): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134198726 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG01884.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0146 others(3): Show |
6 | 118 | 0.0508 | -7 | c.361 others(24): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134206376 | TATATATA | T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0120 a0001c0001t0001g0129 others(1): Show |
4 | 248 | 0.0161 | -7 | c.361 others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134212038 | TTTTTTTG | T | intron_variant | MODIFIER | HG00639.hp2 HG02109.hp1 HG02647.hp1 others(13): Show |
a0001a0004a0006 | a0001c0001a0001c0005a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(13): Show |
16 | 248 | 0.0645 | -7 | c.286 others(24): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134220058 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(102): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 others(102): Show |
105 | 136 | 0.7721 | -7 | c.286 others(26): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134296776 | CAAAAAAA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0006g0247 others(2): Show |
5 | 129 | 0.0388 | -7 | c.69+ others(24): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66744504 | TATATATA | T | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02622.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(2): Show | a0001c0002t0002g0023 a0001c0002t0002g0037 a0001c0002t0004g0013 others(7): Show |
10 | 140 | 0.0714 | -7 | c.-12 others(28): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66744506 | TATATATA | T | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0011 | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0032 others(7): Show |
10 | 138 | 0.0725 | -7 | c.-12 others(28): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66744508 | TATATATA | T | intron_variant | MODIFIER | HG01981.hp1 HG02647.hp1 HG03098.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0007 | a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0043 others(5): Show |
8 | 140 | 0.0571 | -7 | c.-12 others(28): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66760330 | CTTTTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(2): Show | a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0028 others(19): Show |
22 | 136 | 0.1618 | -7 | c.-12 others(28): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50458339 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(54): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0118 others(54): Show |
57 | 100 | 0.5700 | -7 | c.-31 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50476097 | CAAAAAAA | C | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp1 HG02976.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0107 others(14): Show |
17 | 29 | 0.5862 | -7 | c.-49 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50495273 | AAGGATGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0111 others(22): Show |
25 | 310 | 0.0806 | -7 | c.-49 others(28): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50527063 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(122): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(12): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0060 others(122): Show |
125 | 215 | 0.5814 | -7 | c.-58 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGO1_chr3_20164484_20191206 | 20164775 | TAACAGAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02258.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0001g0020 a0001c0001t0001g0154 a0001c0001t0001g0155 others(6): Show |
22 | 428 | 0.0514 | -7 | c.*59 others(18): Show |
SGO1 | ENSG00000129810.15 | transcript | ENST00000412997.6 | protein_coding | 4708 | chr3 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70835348 | TTAACTCA | T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01496.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0063 others(2): Show |
8 | 400 | 0.0200 | -7 | c.28- others(22): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63719007 | TATATATA | T | intron_variant | MODIFIER | HG01070.hp2 HG03704.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0012 | a0001c0001t0001g0087 a0001c0001t0001g0167 a0001c0002t0012g0022 |
3 | 283 | 0.0106 | -7 | c.684 others(24): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222565900 | TATATATA | T | downstream_gene_variant | MODIFIER | HG01928.hp2 HG02280.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0063a0001c0003t0024a0001c0003t0039others(1): Show | a0001c0001t0063g0097 a0001c0003t0024g0160 a0001c0003t0039g0205 others(1): Show |
4 | 270 | 0.0148 | -7 | c.*70 others(18): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 3280 | chr2 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24845946 | TTTCTTTC | T | intron_variant | MODIFIER | HG02129.hp2 HG03579.hp2 HG03710.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0131 a0001c0001t0001g0260 others(5): Show |
8 | 324 | 0.0247 | -7 | c.139 others(22): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24853769 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00609.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0053 a0001c0001t0001g0079 a0001c0001t0001g0080 others(36): Show |
39 | 171 | 0.2281 | -7 | c.456 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24877802 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0255 a0001c0001t0001g0257 others(4): Show |
7 | 173 | 0.0405 | -7 | c.143 others(26): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24888938 | CTTTTTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG02027.hp1 HG02040.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(5): Show | a0001c0001t0002g0054 a0001c0004t0001g0330 a0001c0004t0002g0088 others(8): Show |
11 | 154 | 0.0714 | -7 | c.177 others(26): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2386042 | GCTGGGGA | G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG02257.hp1 HG02451.hp1 others(8): Show |
a0001a0003a0015others(1): Show | a0001c0001a0001c0003a0003c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0003c0006t0001others(3): Show | a0001c0001t0001g0122 a0001c0001t0001g0367 a0001c0003t0001g0390 others(8): Show |
11 | 420 | 0.0262 | -7 | c.*65 others(18): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 4989 | chr17 | TogoVar | |||||||
SGSM3_chr22_40365594_40415289 | 40376178 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009 | a0001c0001t0003g0009 a0001c0001t0003g0248 a0001c0001t0003g0249 others(4): Show |
8 | 20 | 0.4000 | -7 | c.-11 others(26): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGTB_chr5_65660928_65727109 | 65689991 | TAATACTC | T | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0142 a0001c0001t0009g0143 a0001c0001t0009g0144 others(2): Show |
5 | 358 | 0.0140 | -7 | c.375 others(24): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102298914 | CTTTTTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG02809.hp2 HG02896.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0002 | a0001c0001t0001g0100 a0001c0001t0001g0171 a0001c0001t0001g0172 others(6): Show |
9 | 345 | 0.0261 | -7 | c.-29 others(24): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111427388 | GAAAAAAA | G | intron_variant | MODIFIER | HG01361.hp1 HG01993.hp1 HG02109.hp1 others(32): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0171 others(31): Show |
35 | 86 | 0.4070 | -7 | c.732 others(24): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350241 | TTATATAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(117): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(104): Show |
120 | 279 | 0.4301 | -7 | c.137 others(24): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350323 | TTATATAA | T | intron_variant | MODIFIER | HG01361.hp2 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0205 a0001c0001t0001g0207 |
3 | 316 | 0.0095 | -7 | c.137 others(24): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124355290 | GTTGCTTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(259): Show |
315 | 316 | 0.9968 | -7 | c.137 others(24): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1B_chr1_162390268_162417136 | 162403512 | ATATATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0043 |
3 | 378 | 0.0079 | -7 | c.135 others(22): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6771141 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00738.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0029 a0002c0003t0001g0014 others(7): Show |
16 | 181 | 0.0884 | -7 | c.-38 others(18): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 3707 | chr19 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127737040 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01517.hp2 HG02622.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0134 others(3): Show |
6 | 145 | 0.0414 | -7 | c.*16 others(18): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 1276 | chr9 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127745455 | CTTTTTTT | C | intron_variant | MODIFIER | HG02135.hp2 HG02155.hp1 HG02165.hp1 others(11): Show |
a0001a0003a0009 | a0001c0001a0003c0007a0003c0018others(1): Show | a0001c0001t0001a0003c0007t0001a0003c0018t0001others(1): Show | a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0197 others(8): Show |
14 | 250 | 0.0560 | -7 | c.126 others(24): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19314029 | GGGTGTCC | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0007others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(92): Show | a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0109 others(327): Show |
339 | 351 | 0.9658 | -7 | c.-20 others(24): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19332691 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(47): Show |
a0001a0002a0003others(6): Show | a0001c0007a0001c0010a0001c0038others(11): Show | a0001c0007t0001a0001c0007t0002a0001c0007t0004others(21): Show | a0001c0007t0001g0200 a0001c0007t0001g0203 a0001c0007t0001g0250 others(47): Show |
50 | 263 | 0.1901 | -7 | c.182 others(22): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |