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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGIP1_chr1_66529153_66756139 | 66630896 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 a0001c0001t0010g0024 |
2 | 302 | 0.0066 | 20 | c.75- others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630904 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01256.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0001c0001t0015a0001c0001t0020others(1): Show | a0001c0001t0005g0222 a0001c0001t0015g0228 a0001c0001t0020g0225 others(1): Show |
4 | 302 | 0.0133 | 20 | c.75- others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630904 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 302 | 0.0033 | 20 | c.75- others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630904 | A | AAGGGAGG others(13): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0052 | 1 | 302 | 0.0033 | 20 | c.75- others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630921 | A | AGGGAGGG others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0002g0206 a0001c0001t0011g0255 a0001c0001t0012g0102 others(2): Show |
5 | 302 | 0.0166 | 20 | c.75- others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66659950 | A | AAGAAAAA others(13): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0004 | a0001c0004t0025 | a0001c0004t0025g0086 | 1 | 302 | 0.0033 | 20 | c.460 others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660004 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0129 | 1 | 302 | 0.0033 | 20 | c.460 others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660008 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0032 a0001c0001t0010g0028 |
2 | 302 | 0.0066 | 20 | c.460 others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660012 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00741.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0017others(1): Show | a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0049 others(5): Show |
8 | 302 | 0.0265 | 20 | c.460 others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660016 | C | CAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02015.hp2 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0004 | a0001c0001t0002g0018 a0001c0001t0002g0061 a0001c0001t0007g0056 others(3): Show |
6 | 302 | 0.0199 | 20 | c.460 others(35): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66693256 | T | TAATAAAT others(13): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01515.hp2 HG01517.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027a0001c0001t0055 | a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0085 others(4): Show |
7 | 302 | 0.0232 | 20 | c.157 others(39): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66742460 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0059 | a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0059g0103 |
3 | 302 | 0.0099 | 20 | c.246 others(37): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134213615 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 NA18943.hp1 NA18943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0002 | a0001c0001t0001g0049 a0001c0001t0001g0104 a0001c0001t0001g0110 others(4): Show |
7 | 250 | 0.0280 | 20 | c.286 others(37): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134232413 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 250 | 0.0040 | 20 | c.286 others(39): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134279431 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp2 HG01496.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0001g0062 others(7): Show |
10 | 250 | 0.0400 | 20 | c.70- others(37): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK1_chr6_134164256_134323112 | 134298784 | C | CTTATTTA others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01258.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0003g0002 others(3): Show |
6 | 250 | 0.0240 | 20 | c.69+ others(37): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK2_chr20_43554027_43590627 | 43571064 | G | GGTGGGTG others(13): Show |
splice_region_variant others(1): Show |
LOW | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 416 | 0.0024 | 20 | c.510 others(31): Show |
SGK2 | ENSG00000101049.18 | transcript | ENST00000373100.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03017.hp2 HG03471.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0006others(1): Show | a0001c0002t0002g0026 a0001c0002t0002g0041 a0001c0002t0002g0052 others(5): Show |
8 | 142 | 0.0563 | 20 | c.-12 others(41): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66729735 | T | TTATATTT others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0141 a0001c0002t0002g0142 |
3 | 142 | 0.0211 | 20 | c.-12 others(41): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66758011 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 HG02895.hp2 NA18946.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0038 others(8): Show |
11 | 142 | 0.0775 | 20 | c.-12 others(41): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66826636 | C | CTTTATTT others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0013 a0001c0002t0003g0018 a0001c0002t0003g0021 others(6): Show |
9 | 142 | 0.0634 | 20 | c.418 others(37): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50330293 | A | AAAAACAA others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0265 | 1 | 312 | 0.0032 | 20 | c.624 others(37): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574961 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG00738.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0277 a0001c0001t0001g0285 a0001c0002t0001g0110 others(8): Show |
11 | 312 | 0.0353 | 20 | c.-58 others(41): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574963 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG02004.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0157 a0001c0001t0001g0171 a0001c0001t0001g0172 others(3): Show |
6 | 312 | 0.0192 | 20 | c.-58 others(41): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574963 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0218 | 1 | 312 | 0.0032 | 20 | c.-58 others(41): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200522317 | A | ATTCTTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0038 others(12): Show |
16 | 384 | 0.0417 | 20 | c.-39 others(31): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 3889 | chr2 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200588726 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0017 | 1 | 384 | 0.0026 | 20 | c.*52 others(31): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 4631 | chr2 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200588726 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(31): Show |
a0001a0003a0004 | a0001c0002a0001c0004a0003c0006others(1): Show | a0001c0002t0001a0001c0004t0001a0003c0006t0001others(1): Show | a0001c0002t0001g0011 a0001c0002t0001g0039 a0001c0002t0001g0040 others(30): Show |
34 | 384 | 0.0885 | 20 | c.*52 others(31): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 4631 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 272 | 0.0037 | 20 | c.-23 others(31): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222477041 | G | GTGTGTAT others(13): Show |
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 | 20 | c.378 others(37): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222556795 | T | TCCCCCAT others(13): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 272 | 0.0037 | 20 | c.649 others(37): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222556856 | T | TTCCCCAT others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0079a0001c0001t0084 | a0001c0001t0079g0258 a0001c0001t0084g0267 |
2 | 272 | 0.0074 | 20 | c.649 others(37): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24807888 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02886.hp2 NA19063.hp1 |
a0001a0003 | a0001c0001a0003c0035 | a0001c0001t0004a0001c0001t0005a0003c0035t0001 | a0001c0001t0004g0191 a0001c0001t0005g0190 a0003c0035t0001g0192 |
3 | 338 | 0.0089 | 20 | c.63+ others(35): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24818045 | A | AACATGAT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(92): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0076 a0001c0001t0001g0194 a0001c0001t0001g0203 others(92): Show |
95 | 338 | 0.2811 | 20 | c.63+ others(37): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTTTTT others(13): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18951.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003 | a0001c0001t0005g0179 a0002c0002t0003g0096 |
2 | 338 | 0.0059 | 20 | c.63+ others(37): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24845941 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 338 | 0.0030 | 20 | c.139 others(37): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24845951 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 |
a0001a0004 | a0001c0005a0004c0041 | a0001c0005t0001a0004c0041t0016 | a0001c0005t0001g0159 a0004c0041t0016g0013 |
2 | 338 | 0.0059 | 20 | c.139 others(35): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24845955 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 NA19240.hp1 |
a0001 | a0001c0005a0001c0020 | a0001c0005t0001a0001c0020t0010 | a0001c0005t0001g0011 a0001c0020t0010g0336 |
2 | 338 | 0.0059 | 20 | c.139 others(35): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24887107 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18945.hp2 NA19043.hp1 others(1): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0028 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0314 a0001c0001t0002g0247 a0002c0002t0001g0329 others(1): Show |
4 | 338 | 0.0118 | 20 | c.177 others(37): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24900340 | C | CTTCTTTC others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 338 | 0.0030 | 20 | c.261 others(39): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24915229 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0003 | a0003c0003t0017 | a0003c0003t0017g0320 | 1 | 338 | 0.0030 | 20 | c.292 others(39): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2338786 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0135 | 1 | 422 | 0.0024 | 20 | c.57+ others(35): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01975.hp1 others(10): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0016 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0158 a0001c0001t0001g0264 a0001c0001t0001g0265 others(10): Show |
13 | 406 | 0.0320 | 20 | c.-29 others(37): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102320983 | A | ATGCATGA others(13): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02622.hp1 others(9): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0214 a0001c0001t0002g0039 a0001c0001t0002g0097 others(9): Show |
12 | 406 | 0.0296 | 20 | c.156 others(37): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B3_chr12_111400923_111456623 | 111417460 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00642.hp2 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0018a0001c0005t0010others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(49): Show |
65 | 326 | 0.1994 | 20 | c.-27 others(35): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0123 | 1 | 318 | 0.0031 | 20 | c.*37 others(31): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTCTAT others(13): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 318 | 0.0031 | 20 | c.*37 others(31): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTCTCT others(13): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241 | 1 | 318 | 0.0031 | 20 | c.*37 others(31): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375202 | T | TATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0140 | 1 | 318 | 0.0031 | 20 | c.*38 others(31): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2043 | chrX | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162392171 | A | AAAAGAAG others(13): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 HG03017.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001 | a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0145 others(2): Show |
5 | 424 | 0.0118 | 20 | c.*51 others(31): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 3096 | chr1 | TogoVar |