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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3KBP1_chrX_19528977_19892600 | 19813160 | AAAGAAGA others(8): Show |
A | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 133 | 0.0075 | -15 | c.162 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA others(8): Show |
G | upstream_gene_variant | MODIFIER | NA18957.hp2 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 |
2 | 20 | 0.1000 | -15 | c.-30 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172416696 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(111): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0004g0265 others(110): Show |
114 | 166 | 0.6867 | -15 | c.156 others(32): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 145962888 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 145 | 0.0069 | -15 | c.378 others(34): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146022873 | AAACACAC others(8): Show |
A | intron_variant | MODIFIER | HG02015.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0219 | 1 | 269 | 0.0037 | -15 | c.105 others(34): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064686 | GAAAGAAA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0099 a0001c0005t0001g0042 a0001c0005t0001g0206 others(3): Show |
6 | 268 | 0.0224 | -15 | c.*19 others(26): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1395 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064793 | AAGGAAGG others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0208 | 1 | 269 | 0.0037 | -15 | c.*20 others(26): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1502 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064795 | GGAAGGAA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0042 | 1 | 234 | 0.0043 | -15 | c.*20 others(26): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1504 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109146819 | TCCTCCCC others(8): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0015 | a0001c0015t0011 | a0001c0015t0011g0115 | 1 | 172 | 0.0058 | -15 | c.573 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109170229 | CTTCTCTT others(8): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG04115.hp2 |
a0001a0003 | a0001c0001a0003c0020 | a0001c0001t0024a0003c0020t0006 | a0001c0001t0024g0141 a0003c0020t0006g0062 |
2 | 171 | 0.0117 | -15 | c.573 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109170239 | TTTCTTTT others(8): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG02055.hp2 HG02132.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0025 a0001c0001t0002g0117 a0001c0001t0002g0121 others(19): Show |
22 | 91 | 0.2418 | -15 | c.573 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109170244 | TTTCTCTT others(8): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG03927.hp1 NA19056.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0034 | a0002c0002t0001g0165 a0002c0002t0001g0170 a0002c0002t0034g0157 |
3 | 125 | 0.0240 | -15 | c.573 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109198096 | CCTGCTGT others(8): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0034 | a0002c0002t0034g0157 | 1 | 172 | 0.0058 | -15 | c.573 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109247645 | GCTGCGTT others(8): Show |
G | intron_variant | MODIFIER | HG03453.hp2 NA18906.hp2 |
a0001 | a0001c0003a0001c0021 | a0001c0003t0032a0001c0021t0049 | a0001c0003t0032g0135 a0001c0021t0049g0138 |
2 | 172 | 0.0116 | -15 | c.574 others(36): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109248887 | TTCCTGTC others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0031 others(73): Show |
76 | 89 | 0.8539 | -15 | c.574 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109452945 | CGGGAGGC others(8): Show |
C | intron_variant | MODIFIER | HG03540.hp2 NA18964.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0066 | a0001c0001t0001g0054 a0001c0014t0066g0066 |
2 | 171 | 0.0117 | -15 | c.214 others(34): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8245829 | GGCCTGGA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02056.hp2 HG03831.hp2 NA18954.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0044others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0044t0001others(1): Show | a0001c0001t0001g0352 a0001c0002t0001g0216 a0001c0044t0001g0319 others(1): Show |
4 | 372 | 0.0108 | -15 | c.*48 others(26): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 4727 | chr4 | TogoVar | |||||||
SH3TC2_chr5_148977150_149068062 | 149013283 | CAGTGAGT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(69): Show |
a0001a0003a0015 | a0001c0002a0001c0021a0003c0010others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0008others(43): Show | a0001c0002t0003g0003 a0001c0002t0003g0009 a0001c0002t0003g0054 others(56): Show |
72 | 324 | 0.2222 | -15 | c.305 others(32): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SH3TC2_chr5_148977150_149068062 | 149021884 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01928.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0054a0001c0001t0089a0001c0001t0093 | a0001c0001t0054g0195 a0001c0001t0089g0141 a0001c0001t0093g0150 |
3 | 197 | 0.0152 | -15 | c.305 others(34): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50707876 | TTTTTCTT others(8): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00544.hp2 others(32): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(26): Show | a0001c0002t0001g0211 a0001c0002t0001g0251 a0001c0002t0002g0109 others(32): Show |
35 | 70 | 0.5000 | -15 | c.107 others(34): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37920275 | AAAAACAA others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00544.hp2 others(77): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(16): Show | a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 others(74): Show |
80 | 138 | 0.5797 | -15 | c.134 others(32): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37992524 | AAGAGGCT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0023a0001c0001t0048others(1): Show | a0001c0001t0001g0211 a0001c0001t0023g0215 a0001c0001t0048g0235 others(1): Show |
4 | 328 | 0.0122 | -15 | c.839 others(34): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89058538 | TTACATGG others(8): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0171 | 1 | 186 | 0.0054 | -15 | c.836 others(32): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89097106 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0022 | 1 | 17 | 0.0588 | -15 | c.545 others(34): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89182522 | AAAAATAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01243.hp1 HG02258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(6): Show | a0001c0001t0003g0055 a0001c0001t0011g0160 a0001c0001t0014g0137 others(7): Show |
10 | 50 | 0.2000 | -15 | c.-40 others(26): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 3705 | chr9 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182898672 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 8 | 0.1250 | -15 | c.*12 others(26): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1192 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952188 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0143 | 1 | 283 | 0.0035 | -15 | c.405 others(30): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952190 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 277 | 0.0036 | -15 | c.405 others(30): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182952192 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 273 | 0.0037 | -15 | c.405 others(30): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
SHFL_chr19_10081317_10098243 | 10088953 | TATAATAA others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 175 | 0.0057 | -15 | c.196 others(30): Show |
SHFL | ENSG00000130813.18 | transcript | ENST00000253110.16 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHISA5_chr3_48462876_48509174 | 48492150 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 94 | 0.0106 | -15 | c.233 others(32): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11237480 | AGAGAAGG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0167 | 1 | 190 | 0.0053 | -15 | c.-39 others(26): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3732 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11525637 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG02970.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0001t0052a0001c0002t0012others(1): Show | a0001c0001t0012g0113 a0001c0001t0052g0109 a0001c0002t0012g0185 others(2): Show |
5 | 190 | 0.0263 | -15 | c.896 others(34): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12953208 | TCAACAAC others(8): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0052 | 1 | 177 | 0.0056 | -15 | c.691 others(34): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970485 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0121 | 1 | 210 | 0.0048 | -15 | c.691 others(34): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 12970495 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 186 | 0.0054 | -15 | c.691 others(34): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140085 | TCTTCCCT others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(12): Show | a0001c0001t0002g0115 a0001c0001t0005g0049 a0001c0001t0016g0212 others(12): Show |
15 | 96 | 0.1563 | -15 | c.692 others(34): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140128 | TCCCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(34): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0069 a0001c0001t0001g0092 a0001c0001t0001g0093 others(34): Show |
37 | 210 | 0.1762 | -15 | c.692 others(34): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13140133 | TCCCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01433.hp1 HG02055.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0003a0001c0001t0023a0001c0001t0076others(4): Show | a0001c0001t0003g0180 a0001c0001t0023g0119 a0001c0001t0076g0108 others(4): Show |
7 | 198 | 0.0354 | -15 | c.692 others(34): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44265533 | CCCAAGCC others(8): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0247 | 1 | 378 | 0.0026 | -15 | c.600 others(34): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44277449 | CAAACAAA others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0029a0001c0001t0033a0001c0001t0048others(6): Show | a0001c0001t0029g0116 a0001c0001t0029g0245 a0001c0001t0033g0262 others(8): Show |
11 | 252 | 0.0437 | -15 | c.599 others(32): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHKBP1_chr19_40571873_40596397 | 40595905 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01070.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 a0001c0002t0001g0023 a0001c0002t0001g0141 others(2): Show |
10 | 95 | 0.1053 | -15 | c.*46 others(26): Show |
SHKBP1 | ENSG00000160410.15 | transcript | ENST00000291842.10 | protein_coding | 4509 | chr19 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5752291 | AAGGCTGA others(8): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0306 | 1 | 326 | 0.0031 | -15 | c.-5+ others(30): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5767122 | ATTTTCTT others(8): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0002g0134 others(8): Show |
11 | 125 | 0.0880 | -15 | c.-4- others(30): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5850112 | CAATAATA others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG03098.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0005a0001c0002t0006a0002c0004t0008 | a0001c0002t0005g0043 a0001c0002t0006g0083 a0002c0004t0008g0064 |
3 | 16 | 0.1875 | -15 | c.179 others(34): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5860876 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01884.hp1 NA18942.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0004a0002c0007 | a0001c0002t0002a0002c0004t0002a0002c0007t0002 | a0001c0002t0002g0099 a0001c0002t0002g0214 a0002c0004t0002g0077 others(1): Show |
4 | 41 | 0.0976 | -15 | c.179 others(32): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD3_chr5_65620027_65635928 | 65627131 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp2 HG01952.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0079 a0001c0003t0004g0004 a0001c0003t0004g0014 others(5): Show |
33 | 162 | 0.2037 | -15 | c.-12 others(34): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SHMT1_chr17_18322873_18368550 | 18355050 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG01943.hp1 others(38): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0014 others(30): Show |
41 | 70 | 0.5857 | -15 | c.96+ others(28): Show |
SHMT1 | ENSG00000176974.22 | transcript | ENST00000316694.8 | protein_coding | 2/11 | chr17 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110940910 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0003 | a0001c0001t0003g0027 a0001c0001t0003g0333 a0001c0001t0003g0334 others(6): Show |
10 | 11 | 0.9091 | -15 | c.-23 others(36): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOX_chrX_625791_656584 | 655634 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0005 | 1 | 218 | 0.0046 | -15 | c.*10 others(28): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 4051 | chrX | TogoVar |