| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SH3GL2_chr9_17574066_17802124 | 17622976 | G | GTTTCCTT others(23): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00733.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0032a0001c0001t0001g0042a0001c0001t0001g0043others(5): Show | 8 | 260 | 0.0308 | 30 | c.45+ others(47): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SH3GL2_chr9_17574066_17802124 | 17622977 | T | TTTCCTTT others(23): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 260 | 0.0039 | 30 | c.45+ others(47): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SH3GL2_chr9_17574066_17802124 | 17622982 | T | TTTCCTTT others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 260 | 0.0039 | 30 | c.45+ others(47): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0111 | 1 | 318 | 0.0031 | 30 | c.570 others(45): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SH3PXD2A_chr10_103589027_103860576 | 103801542 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01928.hp1 HG02132.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0005a0001c0002t0076a0001c0002t0087others(8): Show | a0001c0001t0005g0187a0001c0002t0076g0068a0001c0002t0087g0194others(8): Show | 11 | 250 | 0.0440 | 30 | c.73- others(43): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
| SH3PXD2B_chr5_172328499_172459525 | 172368468 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0143 | 1 | 280 | 0.0036 | 30 | c.427 others(47): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
| SH3PXD2B_chr5_172328499_172459525 | 172368496 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02129.hp1 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0007 | a0001c0001t0002g0139a0001c0001t0004g0273a0001c0002t0007g0108 | 3 | 280 | 0.0107 | 30 | c.427 others(47): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
| SH3RF1_chr4_169089259_169275956 | 169145761 | A | ATATATAA others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012a0001c0002t0029 | a0001c0002t0003g0008a0001c0002t0003g0009a0001c0002t0012g0010others(2): Show | 5 | 216 | 0.0232 | 30 | c.766 others(47): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
| SH3RF1_chr4_169089259_169275956 | 169145978 | T | TTATTCTA others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 NA19043.hp1 |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0002a0007c0017t0002 | a0001c0001t0002g0142a0007c0017t0002g0137 | 2 | 216 | 0.0093 | 30 | c.766 others(47): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
| SH3RF3_chr2_109124205_109509634 | 109190722 | G | GGGTGTCT others(23): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0140 | 1 | 172 | 0.0058 | 30 | c.573 others(49): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SH3RF3_chr2_109124205_109509634 | 109458572 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 HG01256.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0020a0001c0001t0006g0033a0001c0001t0008g0015others(2): Show | 5 | 172 | 0.0291 | 30 | c.214 others(49): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SHANK1_chr19_50654255_50724802 | 50665737 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18960.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0016others(1): Show | a0001c0002t0002g0295a0001c0002t0005g0116a0001c0002t0016g0112others(1): Show | 4 | 316 | 0.0127 | 30 | c.576 others(47): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50678919 | T | TTACAAGC others(23): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0134 | 1 | 316 | 0.0032 | 30 | c.257 others(49): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50692456 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp2 HG03017.hp1 others(1): Show |
a0001a0008 | a0001c0002a0001c0003a0001c0009others(1): Show | a0001c0002t0003a0001c0003t0099a0001c0009t0007others(1): Show | a0001c0002t0003g0276a0001c0003t0099g0308a0001c0009t0007g0270others(1): Show | 4 | 316 | 0.0127 | 30 | c.196 others(49): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | ||||||
| SHANK1_chr19_50654255_50724802 | 50707876 | T | TTTTTCTT others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0169 | 1 | 316 | 0.0032 | 30 | c.107 others(49): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | ||||||
| SHC3_chr9_89000771_89183818 | 89080755 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0007 | 1 | 188 | 0.0053 | 30 | c.546 others(47): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | ||||||
| SHC3_chr9_89000771_89183818 | 89182522 | A | AAAAATAA others(23): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01261.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0006 | a0001c0001t0004g0061a0001c0002t0006g0059a0001c0002t0006g0173 | 3 | 188 | 0.0160 | 30 | c.-40 others(41): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 3705 | chr9 | TogoVar | ||||||
| SHC4_chr15_48818741_48968919 | 48919295 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0108a0001c0001t0004g0184others(3): Show | 6 | 384 | 0.0156 | 30 | c.656 others(47): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
| SHCBP1L_chr1_182894865_182958166 | 182924699 | A | AGGAAAGG others(23): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0071 | 1 | 302 | 0.0033 | 30 | c.118 others(49): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
| SHCBP1L_chr1_182894865_182958166 | 182924976 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18970.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0271a0002c0002t0001g0014 | 2 | 302 | 0.0066 | 30 | c.118 others(49): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | ||||||
| SHCBP1_chr16_46573591_46626379 | 46610544 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 184 | 0.0054 | 30 | c.597 others(47): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
| SHH_chr7_155794980_155817463 | 155795293 | G | GTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0141 | 1 | 414 | 0.0024 | 30 | c.*76 others(41): Show |
SHH | ENSG00000164690.8 | transcript | ENST00000297261.7 | protein_coding | 4686 | chr7 | TogoVar | ||||||
| SHISA5_chr3_48462876_48509174 | 48481441 | A | AAAAATAA others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02145.hp1 HG02735.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0005a0002c0003t0001 | a0001c0001t0001g0024a0001c0001t0001g0027a0001c0001t0001g0029others(7): Show | 10 | 290 | 0.0345 | 30 | c.234 others(47): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| SHISA5_chr3_48462876_48509174 | 48486310 | A | ATGTTATA others(23): Show |
intron_variant | MODIFIER | HG03239.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 290 | 0.0069 | 30 | c.234 others(47): Show |
SHISA5 | ENSG00000164054.17 | transcript | ENST00000296444.7 | protein_coding | 2/5 | chr3 | TogoVar | ||||||
| SHISA6_chr17_11236213_11569063 | 11277280 | T | TCTCTCTC others(23): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0094 | 1 | 192 | 0.0052 | 30 | c.799 others(49): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHISA6_chr17_11236213_11569063 | 11277280 | T | TCTCTCTC others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0072 | 1 | 192 | 0.0052 | 30 | c.799 others(49): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 12970408 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG02145.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(1): Show | a0001c0001t0001g0120a0001c0001t0004g0006a0001c0001t0026g0065others(1): Show | 4 | 214 | 0.0187 | 30 | c.691 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13015890 | C | CTTTCTTT others(23): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 214 | 0.0047 | 30 | c.691 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13140128 | T | TCCCTCCC others(23): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0157 | 1 | 214 | 0.0047 | 30 | c.692 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISA9_chr16_12896598_13245416 | 13142989 | C | CTTTTATT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02922.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0028 | a0001c0001t0001g0094a0001c0001t0002g0177a0001c0001t0028g0137 | 3 | 214 | 0.0140 | 30 | c.692 others(49): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SHISAL1_chr22_44238665_44317951 | 44241646 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0107 | a0001c0107t0006 | a0001c0107t0006g0216 | 1 | 380 | 0.0026 | 30 | c.*80 others(41): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 2018 | chr22 | TogoVar | ||||||
| SHISAL1_chr22_44238665_44317951 | 44261077 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02809.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0049a0001c0060a0001c0163others(3): Show | a0001c0049t0074a0001c0060t0001a0001c0163t0021others(3): Show | a0001c0049t0074g0137a0001c0060t0001g0234a0001c0163t0021g0158others(3): Show | 6 | 380 | 0.0158 | 30 | c.600 others(49): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
| SHISAL2A_chr1_52628168_52662065 | 52645396 | C | CGTTTTGT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(91): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(83): Show | 94 | 444 | 0.2117 | 30 | c.322 others(47): Show |
SHISAL2A | ENSG00000182183.15 | transcript | ENST00000517870.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SHLD1_chr20_5745401_5869395 | 5844799 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0081 | 1 | 328 | 0.0031 | 30 | c.179 others(49): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SHOX2_chr3_158090905_158111420 | 158096909 | T | TATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0064 | a0001c0001t0063g0069a0001c0001t0064g0067 | 2 | 380 | 0.0053 | 30 | c.*11 others(41): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 5/5 | 1117 | chr3 | TogoVar | |||||
| SHOX2_chr3_158090905_158111420 | 158106571 | C | CAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039a0001c0001t0002g0003 | 2 | 380 | 0.0053 | 30 | c.-57 others(39): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 152 | chr3 | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 628650 | T | TGTCTCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0161 | a0001c0001t0161g0086 | 1 | 220 | 0.0046 | 30 | c.-22 others(41): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2140 | chrX | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 636970 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0121 | 1 | 220 | 0.0046 | 30 | c.486 others(47): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SHOX_chrX_625791_656584 | 648942 | C | CTTTCTTT others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0134 | 1 | 220 | 0.0046 | 30 | c.*43 others(41): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 4310 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| SHPK_chr17_3603240_3641250 | 3635236 | A | AGGAAGGA others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0256 | 1 | 382 | 0.0026 | 30 | c.168 others(45): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | ||||||
| SHPRH_chr6_145879807_145969358 | 145934473 | T | TAAATAAA others(23): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01884.hp1 others(9): Show |
a0001a0002 | a0001c0015a0002c0004 | a0001c0015t0014a0002c0004t0003 | a0001c0015t0014g0253a0002c0004t0003g0007a0002c0004t0003g0264others(6): Show | 12 | 354 | 0.0339 | 30 | c.299 others(47): Show |
SHPRH | ENSG00000146414.17 | transcript | ENST00000275233.12 | protein_coding | 13/29 | chr6 | TogoVar | ||||||
| SHROOM2_chrX_9781429_9954443 | 9815571 | C | CCTATATC others(23): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 256 | 0.0039 | 30 | c.165 others(49): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SHROOM2_chrX_9781429_9954443 | 9816580 | C | CCTGCTGC others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 256 | 0.0039 | 30 | c.165 others(49): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76591637 | A | AACCTCTA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01928.hp1 HG01943.hp1 others(29): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0008a0002c0002t0001a0002c0002t0003others(10): Show | a0001c0001t0008g0198a0002c0002t0001g0003a0002c0002t0001g0010others(29): Show | 32 | 218 | 0.1468 | 30 | c.323 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76608743 | T | TAGCATAG others(23): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0084 | 1 | 218 | 0.0046 | 30 | c.323 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | NA18962.hp1 NA18982.hp2 |
a0002a0015 | a0002c0002a0015c0032 | a0002c0002t0001a0015c0032t0008 | a0002c0002t0001g0003a0015c0032t0008g0207 | 2 | 218 | 0.0092 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 218 | 0.0046 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76646225 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0009 | a0009c0011 | a0009c0011t0034 | a0009c0011t0034g0144 | 1 | 218 | 0.0046 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76681594 | G | GGGGTGTG others(23): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0009 | a0001c0015t0009g0111 | 1 | 218 | 0.0046 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SHROOM3_chr4_76430229_76788253 | 76681625 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02074.hp1 HG02083.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0002a0001c0019t0003a0002c0002t0001others(6): Show | a0001c0001t0002g0020a0001c0001t0002g0117a0001c0019t0003g0211others(8): Show | 11 | 218 | 0.0505 | 30 | c.324 others(49): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |