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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGCZ_chr8_14079845_15243431 | 15202645 | TTAAAA | T | intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025a0001c0001t0032others(2): Show | a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0025g0022 others(3): Show |
6 | 102 | 0.0588 | -5 | c.39+ others(22): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66530956 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp1 others(62): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0066 a0001c0001t0001g0070 others(62): Show |
65 | 302 | 0.2152 | -5 | c.-34 others(16): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 3196 | chr1 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66592897 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp1 others(29): Show |
a0001 | a0001c0001a0001c0004a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(9): Show | a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0089 others(29): Show |
32 | 302 | 0.1060 | -5 | c.11- others(22): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66631095 | GAAAGA | G | intron_variant | MODIFIER | HG01515.hp1 HG02148.hp2 HG03669.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003a0002c0002t0038 | a0001c0001t0001g0178 a0002c0002t0003g0272 a0002c0002t0003g0294 others(1): Show |
4 | 302 | 0.0133 | -5 | c.75- others(20): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66706093 | AAAAAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0206 a0001c0001t0006g0251 a0001c0001t0008g0157 others(5): Show |
8 | 302 | 0.0265 | -5 | c.163 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134172328 | TGAATA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0200 |
3 | 250 | 0.0120 | -5 | c.948 others(18): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 9/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134197901 | TATAAA | T | intron_variant | MODIFIER | HG01952.hp1 HG02258.hp1 HG02735.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0121 a0001c0001t0001g0139 others(7): Show |
10 | 250 | 0.0400 | -5 | c.361 others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134214610 | AAGTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(131): Show |
134 | 250 | 0.5360 | -5 | c.286 others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134218415 | GTTTTC | G | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01346.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0027 others(24): Show |
27 | 250 | 0.1080 | -5 | c.286 others(24): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134235540 | TTTTTA | T | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG03041.hp2 others(11): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0061 others(11): Show |
14 | 250 | 0.0560 | -5 | c.285 others(24): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134241048 | CTTTTT | C | intron_variant | MODIFIER | HG02818.hp1 HG02970.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0074 others(3): Show |
6 | 250 | 0.0240 | -5 | c.285 others(24): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134273592 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(32): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(32): Show |
35 | 250 | 0.1400 | -5 | c.70- others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134274787 | GTCTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(105): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(105): Show |
108 | 250 | 0.4320 | -5 | c.70- others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134283873 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp2 HG01358.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0033 others(15): Show |
18 | 250 | 0.0720 | -5 | c.70- others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134290330 | AAAAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(132): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(132): Show |
135 | 250 | 0.5400 | -5 | c.69+ others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134301531 | TTCTTC | T | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00735.hp2 others(44): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0092 others(44): Show |
47 | 250 | 0.1880 | -5 | c.69+ others(22): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134316743 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG01081.hp2 others(26): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(26): Show |
29 | 250 | 0.1160 | -5 | c.69+ others(18): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66710842 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03130.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0007 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0002t0004g0014 others(4): Show |
7 | 142 | 0.0493 | -5 | c.-21 others(16): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1938 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66744502 | TATATA | T | intron_variant | MODIFIER | HG02258.hp2 NA20300.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0061 a0001c0002t0005g0062 |
2 | 142 | 0.0141 | -5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66744506 | TATATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0024 a0001c0002t0002g0139 |
2 | 142 | 0.0141 | -5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66744514 | TATATA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA18957.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0087 others(2): Show |
5 | 142 | 0.0352 | -5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66756569 | CTTTTT | C | intron_variant | MODIFIER | HG01071.hp1 HG01884.hp1 HG02109.hp2 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0142 others(18): Show |
21 | 142 | 0.1479 | -5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66779596 | ATATAT | A | intron_variant | MODIFIER | HG04199.hp1 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 a0001c0002t0002g0039 |
2 | 142 | 0.0141 | -5 | c.-12 others(26): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66796321 | ATTTTT | A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0005 a0001c0002t0002g0009 a0001c0002t0002g0041 others(4): Show |
7 | 142 | 0.0493 | -5 | c.97- others(20): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66823011 | AAAAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG03471.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0013 | a0001c0002t0005g0061 a0001c0002t0005g0062 a0001c0002t0005g0064 others(2): Show |
5 | 142 | 0.0352 | -5 | c.417 others(20): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66834464 | GGTTTT | G | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01978.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0011others(1): Show | a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 others(8): Show |
11 | 142 | 0.0775 | -5 | c.526 others(22): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66850501 | AGCACT | A | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0012 a0001c0002t0006g0035 a0001c0002t0006g0048 others(1): Show |
4 | 142 | 0.0282 | -5 | c.123 others(22): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 15/16 | chr8 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50352475 | AATAAT | A | intron_variant | MODIFIER | HG01106.hp1 HG02965.hp2 HG02970.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0135 a0001c0001t0001g0250 others(14): Show |
17 | 312 | 0.0545 | -5 | c.-23 others(24): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50417413 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(215): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 others(215): Show |
218 | 312 | 0.6987 | -5 | c.-23 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50458339 | CTTTTT | C | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 HG03834.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(2): Show | a0001c0001t0001g0063 a0001c0001t0001g0069 a0001c0001t0001g0105 others(9): Show |
12 | 312 | 0.0385 | -5 | c.-31 others(24): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50560060 | AATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00639.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0060 others(69): Show |
72 | 312 | 0.2308 | -5 | c.-58 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50575684 | TAATAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(105): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 others(105): Show |
108 | 312 | 0.3462 | -5 | c.-58 others(26): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50627158 | GCTATT | G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0014 a0001c0001t0004g0019 a0001c0001t0004g0048 others(2): Show |
5 | 312 | 0.0160 | -5 | c.-41 others(16): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3203 | chr10 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200524454 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01346.hp1 HG01358.hp2 others(24): Show |
a0001a0005a0010others(1): Show | a0001c0003a0001c0004a0005c0007others(2): Show | a0001c0003t0002a0001c0004t0001a0005c0007t0001others(2): Show | a0001c0003t0002g0005 a0001c0003t0002g0022 a0001c0003t0002g0023 others(20): Show |
27 | 384 | 0.0703 | -5 | c.-18 others(16): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 1752 | chr2 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70824240 | GGTCTT | G | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01109.hp2 others(32): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011a0001c0002t0025others(3): Show | a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0009 others(24): Show |
35 | 402 | 0.0871 | -5 | c.27+ others(20): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPL1_chr10_70810948_70886184 | 70828195 | TTAATA | T | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0053 a0001c0006t0019g0054 a0001c0006t0019g0055 others(1): Show |
4 | 402 | 0.0100 | -5 | c.27+ others(22): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63688315 | CAAAAA | C | intron_variant | MODIFIER | HG01175.hp1 HG01346.hp2 HG01891.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0011a0001c0002t0012others(3): Show | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0002t0011g0017 others(9): Show |
12 | 288 | 0.0417 | -5 | c.775 others(22): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63719009 | TATATA | T | intron_variant | MODIFIER | HG02083.hp1 HG02922.hp1 HG02976.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0079 others(7): Show |
10 | 288 | 0.0347 | -5 | c.684 others(22): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222470285 | AAAAAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0017a0001c0003t0022a0001c0011t0035 | a0001c0001t0017g0188 a0001c0003t0022g0190 a0001c0011t0035g0002 |
3 | 272 | 0.0110 | -5 | c.220 others(22): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222483015 | TAAAAC | T | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03130.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0017a0001c0001t0020a0001c0002t0009others(2): Show | a0001c0001t0017g0188 a0001c0001t0020g0110 a0001c0001t0020g0208 others(4): Show |
7 | 272 | 0.0257 | -5 | c.378 others(22): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222551435 | GAATTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01934.hp2 others(5): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0022a0001c0003t0027a0001c0003t0049others(3): Show | a0001c0003t0022g0190 a0001c0003t0027g0032 a0001c0003t0027g0154 others(5): Show |
8 | 272 | 0.0294 | -5 | c.649 others(22): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24814269 | AAAAAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(92): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0076 a0001c0001t0001g0194 a0001c0001t0001g0203 others(92): Show |
95 | 338 | 0.2811 | -5 | c.63+ others(20): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24881566 | AAAAAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG03017.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0014a0002c0002t0003 | a0001c0001t0002g0051 a0001c0001t0014g0164 a0002c0002t0003g0052 |
3 | 338 | 0.0089 | -5 | c.149 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24888938 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0073 others(47): Show |
50 | 338 | 0.1479 | -5 | c.177 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24899021 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01192.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0053 a0001c0001t0002g0055 a0001c0001t0002g0229 others(7): Show |
10 | 338 | 0.0296 | -5 | c.261 others(22): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24903994 | AAAAGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0001c0019others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0028 a0001c0001t0001g0140 a0001c0001t0001g0141 others(59): Show |
62 | 338 | 0.1834 | -5 | c.273 others(24): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2352767 | CTTTTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02622.hp2 others(4): Show |
a0001a0002a0006others(2): Show | a0001c0003a0002c0048a0006c0007others(2): Show | a0001c0003t0001a0001c0003t0002a0002c0048t0020others(3): Show | a0001c0003t0001g0390 a0001c0003t0002g0020 a0002c0048t0020g0159 others(3): Show |
7 | 422 | 0.0166 | -5 | c.134 others(22): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGTA_chr19_2749715_2788273 | 2760517 | CAAAAA | C | intron_variant | MODIFIER | HG02683.hp1 HG03710.hp2 HG03831.hp1 others(24): Show |
a0001a0004a0006others(1): Show | a0001c0003a0001c0004a0004c0017others(2): Show | a0001c0003t0003a0001c0003t0021a0001c0004t0003others(3): Show | a0001c0003t0003g0029 a0001c0003t0003g0030 a0001c0003t0003g0031 others(24): Show |
27 | 396 | 0.0682 | -5 | c.699 others(20): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
SGTB_chr5_65660928_65727109 | 65686102 | TAGCTC | T | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0022 | a0001c0001t0014g0154 a0001c0001t0014g0155 a0001c0001t0022g0034 |
3 | 360 | 0.0083 | -5 | c.375 others(20): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 5/10 | chr5 | TogoVar | |||||||
SH2B1_chr16_28858843_28879205 | 28867414 | GAACAC | G | frameshift_variant | HIGH | NA19076.hp1 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0001 | 1 | 380 | 0.0026 | -5 | c.102 others(14): Show |
p.Asn others(5): Show |
SH2B1 | ENSG00000178188.16 | transcript | ENST00000684370.1 | protein_coding | 2/8 | 3276/4908 | 1024/2271 | 342/756 | chr16 | TogoVar |