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 | 23275120 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 NA18995.hp2 |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0007 | a0001c0004t0006g0190 a0001c0004t0007g0116 |
2 | 108 | 0.0185 | 26 | c.386 others(43): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23275142 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0070 | 1 | 350 | 0.0029 | 26 | c.386 others(43): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23314382 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02109.hp1 HG03098.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0003a0001c0003t0003others(3): Show | a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0002t0003g0129 others(5): Show |
8 | 32 | 0.2500 | 26 | c.579 others(43): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14240327 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0013 | 1 | 4 | 0.2500 | 26 | c.337 others(43): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14676346 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0068 | 1 | 22 | 0.0455 | 26 | c.40- others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14717996 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0006 | 1 | 47 | 0.0213 | 26 | c.40- others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15097888 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0001 | 1 | 43 | 0.0233 | 26 | c.39+ others(45): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15232682 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0015 | 1 | 86 | 0.0116 | 26 | c.39+ others(41): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGF29_chr16_28548920_28596790 | 28564553 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0105 |
3 | 204 | 0.0147 | 26 | c.-16 others(45): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28564555 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03516.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0185 a0001c0001t0001g0186 |
3 | 343 | 0.0087 | 26 | c.-16 others(45): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SGF29_chr16_28548920_28596790 | 28594770 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 2 | 147 | 0.0136 | 26 | c.*30 others(37): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 2981 | chr16 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66589214 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 250 | 0.0040 | 26 | c.11- others(43): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66589216 | A | ATATGTGT others(19): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 241 | 0.0041 | 26 | c.11- others(43): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66608987 | T | TGGTCACT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0086 others(125): Show |
128 | 297 | 0.4310 | 26 | c.11- others(43): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66630824 | A | AAAGAGAA others(19): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0115 | 1 | 300 | 0.0033 | 26 | c.75- others(41): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134220058 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 32 | 0.0313 | 26 | c.286 others(45): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03017.hp1 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008a0001c0002t0011 | a0001c0002t0002g0044 a0001c0002t0008g0121 a0001c0002t0011g0031 |
3 | 65 | 0.0462 | 26 | c.-12 others(47): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50365255 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01993.hp2 NA19056.hp1 NA19091.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 a0001c0002t0001g0155 a0001c0002t0001g0212 others(1): Show |
4 | 120 | 0.0333 | 26 | c.-23 others(47): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574961 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02615.hp1 NA18940.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0279 a0001c0002t0001g0253 a0001c0002t0001g0254 others(4): Show |
7 | 257 | 0.0272 | 26 | c.-58 others(47): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574963 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00673.hp2 HG04115.hp2 NA18949.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0174 others(1): Show |
4 | 25 | 0.1600 | 26 | c.-58 others(47): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS2_chr4_107819932_107920047 | 107902289 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065 | 1 | 190 | 0.0053 | 26 | c.574 others(41): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200522317 | A | ATTCTTTC others(19): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01975.hp1 others(9): Show |
a0001a0002a0006 | a0001c0003a0002c0005a0006c0009 | a0001c0003t0002a0002c0005t0003a0006c0009t0002 | a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0108 others(7): Show |
12 | 111 | 0.1081 | 26 | c.-39 others(37): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 3889 | chr2 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70817118 | C | CAAGCGAT others(19): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 400 | 0.0025 | 26 | c.27+ others(39): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01074.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0002g0059 others(13): Show |
16 | 63 | 0.2540 | 26 | c.-23 others(37): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222435028 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02809.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0012a0001c0002t0006a0001c0010t0013 | a0001c0001t0012g0262 a0001c0002t0006g0263 a0001c0010t0013g0259 |
3 | 82 | 0.0366 | 26 | c.219 others(45): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2338774 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 166 | 0.0060 | 26 | c.57+ others(41): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2338786 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0136 | 1 | 419 | 0.0024 | 26 | c.57+ others(41): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGSM3_chr22_40365594_40415289 | 40369432 | A | AAATATAC others(19): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(3): Show |
6 | 290 | 0.0207 | 26 | c.-13 others(37): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 1161 | chr22 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02559.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0002g0244 others(1): Show |
4 | 96 | 0.0417 | 26 | c.-29 others(43): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124351067 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 316 | 0.0032 | 26 | c.137 others(43): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTCTCT others(19): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 92 | 0.0109 | 26 | c.*37 others(37): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375202 | T | TACATATA others(19): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 254 | 0.0039 | 26 | c.*38 others(37): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2043 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375202 | T | TATATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 254 | 0.0039 | 26 | c.*38 others(37): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2043 | chrX | TogoVar | |||||||
SH2D2A_chr1_156801243_156821848 | 156817047 | T | TTCTCTCT others(19): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01515.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(4): Show |
11 | 72 | 0.1528 | 26 | c.-36 others(35): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 200 | chr1 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19373455 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG02572.hp2 others(2): Show |
a0002a0008 | a0002c0004a0008c0019 | a0002c0004t0003a0008c0019t0014 | a0002c0004t0003g0002 a0002c0004t0003g0054 a0002c0004t0003g0058 others(1): Show |
5 | 333 | 0.0150 | 26 | c.918 others(39): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19373455 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0014 | a0002c0014t0005 | a0002c0014t0005g0219 | 1 | 329 | 0.0030 | 26 | c.918 others(39): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH3BGRL3_chr1_26275086_26286522 | 26282328 | A | AGGGACTG others(19): Show |
downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 293 | 0.0034 | 26 | c.*12 others(37): Show |
SH3BGRL3 | ENSG00000142669.15 | transcript | ENST00000270792.10 | protein_coding | 807 | chr1 | TogoVar | |||||||
SH3BP2_chr4_2788085_2846096 | 2825477 | C | CACACACA others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0088 | a0001c0003t0088g0137 | 1 | 376 | 0.0027 | 26 | c.428 others(41): Show |
SH3BP2 | ENSG00000087266.17 | transcript | ENST00000503393.8 | protein_coding | 5/12 | chr4 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0155 | 1 | 22 | 0.0455 | 26 | c.496 others(43): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320605 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01981.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0278 a0001c0001t0001g0289 others(1): Show |
4 | 103 | 0.0388 | 26 | c.201 others(43): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320640 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0160 | 1 | 339 | 0.0029 | 26 | c.201 others(43): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36302436 | A | AAGCTGCT others(19): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | 26 | c.-39 others(37): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 3931 | chr1 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313967 | A | ATTTTTCT others(19): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 370 | 0.0027 | 26 | c.769 others(43): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01071.hp1 HG01109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0042 a0001c0001t0001g0150 a0001c0001t0001g0156 others(6): Show |
11 | 42 | 0.2619 | 26 | c.769 others(43): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4364866 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 44 | 0.0227 | 26 | c.331 others(41): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GLB1_chr1_86699576_86753184 | 86724890 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 223 | 0.0045 | 26 | c.570 others(41): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0093 | 1 | 102 | 0.0098 | 26 | c.570 others(41): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0106 | 1 | 102 | 0.0098 | 26 | c.570 others(41): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19531524 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0195 a0001c0001t0001g0197 |
3 | 51 | 0.0588 | 26 | c.*48 others(37): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2452 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CCTCTCCC others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 95 | 0.0105 | 26 | c.163 others(45): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar |