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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SHCBP1_chr16_46573591_46626379 | 46599688 | A | AACAAAAA others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0012others(1): Show | a0001c0001t0008g0146 a0001c0001t0008g0147 a0001c0001t0009g0026 others(3): Show |
6 | 184 | 0.0326 | 11 | c.134 others(28): Show |
SHCBP1 | ENSG00000171241.9 | transcript | ENST00000303383.8 | protein_coding | 9/12 | chr16 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4295260 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0178 others(69): Show |
81 | 462 | 0.1753 | 11 | c.*46 others(22): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4539 | chr19 | TogoVar | |||||||
SHE_chr1_154474481_154507412 | 154503177 | T | TTGAGCGA others(4): Show |
upstream_gene_variant | MODIFIER | NA19078.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0055 | 1 | 382 | 0.0026 | 11 | c.-11 others(22): Show |
SHE | ENSG00000169291.10 | transcript | ENST00000304760.3 | protein_coding | 766 | chr1 | TogoVar | |||||||
SHF_chr15_45162214_45192966 | 45162851 | A | ACAGCTCA others(4): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(121): Show |
a0001a0003a0013 | a0001c0001a0003c0004a0003c0014others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0004t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0031 others(48): Show |
124 | 398 | 0.3116 | 11 | c.*50 others(22): Show |
SHF | ENSG00000138606.20 | transcript | ENST00000690270.1 | protein_coding | 4362 | chr15 | TogoVar | |||||||
SHH_chr7_155794980_155817463 | 155795293 | G | GTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0024 | 1 | 414 | 0.0024 | 11 | c.*76 others(22): Show |
SHH | ENSG00000164690.8 | transcript | ENST00000297261.7 | protein_coding | 4686 | chr7 | TogoVar | |||||||
SHISA2_chr13_26039597_26057016 | 26041133 | A | AGAGAGAG others(4): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 456 | 0.0022 | 11 | c.*53 others(22): Show |
SHISA2 | ENSG00000180730.5 | transcript | ENST00000319420.4 | protein_coding | 3463 | chr13 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11237575 | G | GAAGAAGA others(4): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 192 | 0.0052 | 11 | c.-38 others(22): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3637 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11330489 | G | GAGAGAGA others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0084 | 1 | 192 | 0.0052 | 11 | c.800 others(30): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11358667 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0124 | 1 | 192 | 0.0052 | 11 | c.800 others(30): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11499683 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0076 | 1 | 192 | 0.0052 | 11 | c.896 others(30): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55444337 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(27): Show |
a0001a0014 | a0001c0001a0001c0002a0014c0019 | a0001c0001t0001a0001c0001t0003a0001c0001t0030others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0003g0003 others(11): Show |
30 | 372 | 0.0807 | 11 | c.-14 others(22): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 1038 | chr19 | TogoVar | |||||||
SHISA8_chr22_41904543_41920074 | 41906281 | T | TGGTGGGA others(4): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01891.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 a0002c0002t0002g0023 |
9 | 376 | 0.0239 | 11 | c.*34 others(22): Show |
SHISA8 | ENSG00000234965.3 | transcript | ENST00000621082.2 | protein_coding | 3261 | chr22 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 12972041 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG01433.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0081 | a0001c0001t0003g0180 a0001c0001t0081g0170 |
2 | 214 | 0.0094 | 11 | c.691 others(30): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13004955 | A | AAAGAAAA others(4): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0138 | 1 | 214 | 0.0047 | 11 | c.691 others(30): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13015853 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 214 | 0.0047 | 11 | c.691 others(30): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13018684 | C | CTCAAAAT others(4): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 214 | 0.0047 | 11 | c.691 others(32): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13187328 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0050 | 1 | 214 | 0.0047 | 11 | c.692 others(30): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13187332 | T | TCTTTTCT others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0074 | 1 | 214 | 0.0047 | 11 | c.692 others(30): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13200442 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0157 | 1 | 214 | 0.0047 | 11 | c.692 others(28): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44246701 | C | CTGTTCTC others(4): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00438.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0016a0001c0001t0069others(6): Show | a0001c0001t0005g0005 a0001c0001t0005g0093 a0001c0001t0005g0145 others(22): Show |
26 | 380 | 0.0684 | 11 | c.*29 others(22): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 5/5 | 2983 | chr22 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44266097 | A | AAACTGAG others(4): Show |
intron_variant | MODIFIER | NA18612.hp1 NA19003.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0059 | a0001c0002t0002g0292 a0001c0002t0059g0218 |
2 | 380 | 0.0053 | 11 | c.600 others(30): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 4/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44290529 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0081 a0001c0001t0001g0134 a0001c0001t0002g0342 others(17): Show |
20 | 380 | 0.0526 | 11 | c.282 others(28): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
SHISAL1_chr22_44238665_44317951 | 44290534 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 380 | 0.0026 | 11 | c.282 others(28): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 3/4 | chr22 | TogoVar | |||||||
SHLD1_chr20_5745401_5869395 | 5775923 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(35): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0095 a0001c0001t0001g0121 a0001c0001t0001g0151 others(35): Show |
38 | 328 | 0.1159 | 11 | c.178 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5844799 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0190 | 1 | 328 | 0.0031 | 11 | c.179 others(30): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5854872 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0067 others(52): Show |
55 | 328 | 0.1677 | 11 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD3_chr5_65620027_65635928 | 65627131 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0059 | 1 | 406 | 0.0025 | 11 | c.-12 others(30): Show |
SHLD3 | ENSG00000253251.3 | transcript | ENST00000510585.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SHOC1_chr9_111681171_111799937 | 111698599 | T | TGTAGTAT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00642.hp2 others(38): Show |
a0003a0008a0016others(1): Show | a0003c0003a0008c0009a0016c0030others(1): Show | a0003c0003t0002a0008c0009t0001a0016c0030t0002others(1): Show | a0003c0003t0002g0011 a0003c0003t0002g0019 a0003c0003t0002g0077 others(37): Show |
41 | 296 | 0.1385 | 11 | c.318 others(30): Show |
SHOC1 | ENSG00000165181.17 | transcript | ENST00000682961.1 | protein_coding | 24/27 | chr9 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110930735 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01069.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0064 others(18): Show |
21 | 386 | 0.0544 | 11 | c.-23 others(32): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 110936589 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 386 | 0.0026 | 11 | c.-23 others(32): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 110936589 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(165): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(148): Show |
168 | 386 | 0.4352 | 11 | c.-23 others(32): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOC2_chr10_110914604_111018665 | 110936604 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG02083.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
6 | 386 | 0.0155 | 11 | c.-23 others(32): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110940910 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 386 | 0.0026 | 11 | c.-23 others(32): Show |
SHOC2 | ENSG00000108061.13 | transcript | ENST00000369452.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHOX2_chr3_158090905_158111420 | 158106620 | A | AGAGAGAG others(4): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0057 | a0001c0001t0003g0002 a0001c0001t0057g0103 |
2 | 380 | 0.0053 | 11 | c.-59 others(20): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 201 | chr3 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 644647 | A | AGCCCCCC others(4): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0082 | 1 | 220 | 0.0046 | 11 | c.*16 others(18): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 27 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHOX_chrX_625791_656584 | 650792 | T | TAAAAAAA others(4): Show |
3_prime_UTR_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0194 | a0001c0001t0194g0205 | 1 | 220 | 0.0046 | 11 | c.*61 others(22): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 6184 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SHPK_chr17_3603240_3641250 | 3621636 | C | CCTTCCTT others(4): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0353 | 1 | 382 | 0.0026 | 11 | c.648 others(26): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 4/6 | chr17 | TogoVar | |||||||
SHPK_chr17_3603240_3641250 | 3631512 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0243 | 1 | 382 | 0.0026 | 11 | c.169 others(28): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72765557 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 222 | 0.0045 | 11 | c.118 others(32): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72825399 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0219 | 1 | 222 | 0.0045 | 11 | c.600 others(26): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SHROOM1_chr5_132817141_132835647 | 132822351 | C | CTTTTTTT others(4): Show |
3_prime_UTR_variant | MODIFIER | NA18956.hp1 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0033 | 2 | 396 | 0.0051 | 11 | c.*43 others(20): Show |
SHROOM1 | ENSG00000164403.15 | transcript | ENST00000378679.8 | protein_coding | 10/10 | 444 | chr5 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823044 | C | CCCTTCTC others(4): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0217 | 1 | 256 | 0.0039 | 11 | c.165 others(30): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823047 | C | CCCTTCTC others(4): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18612.hp1 NA18979.hp2 others(1): Show |
a0001a0012 | a0001c0003a0012c0021 | a0001c0003t0001a0012c0021t0001 | a0001c0003t0001g0149 a0001c0003t0001g0157 a0012c0021t0001g0074 others(1): Show |
4 | 256 | 0.0156 | 11 | c.165 others(30): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823065 | C | CCCTTCTC others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02970.hp2 |
a0002 | a0002c0010a0002c0013 | a0002c0010t0003a0002c0013t0002 | a0002c0010t0003g0227 a0002c0013t0002g0191 |
2 | 256 | 0.0078 | 11 | c.165 others(30): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9829944 | T | TTTTTTAT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(198): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0003a0001c0007others(62): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0017others(86): Show | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0022 others(198): Show |
201 | 256 | 0.7852 | 11 | c.165 others(30): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9848510 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01496.hp1 HG02293.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0024a0001c0007t0001others(2): Show | a0001c0001t0001g0256 a0001c0001t0024g0219 a0001c0007t0001g0051 others(2): Show |
5 | 256 | 0.0195 | 11 | c.166 others(30): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9875080 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02280.hp2 |
a0003a0025 | a0003c0004a0025c0077 | a0003c0004t0003a0025c0077t0002 | a0003c0004t0003g0088 a0025c0077t0002g0232 |
2 | 256 | 0.0078 | 11 | c.317 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9888236 | G | GTTCCTCA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(98): Show |
a0001a0002a0003others(27): Show | a0001c0003a0001c0017a0001c0081others(41): Show | a0001c0003t0001a0001c0003t0019a0001c0017t0001others(55): Show | a0001c0003t0001g0006 a0001c0003t0001g0021 a0001c0003t0001g0024 others(98): Show |
101 | 256 | 0.3945 | 11 | c.318 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76460827 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18522.hp1 NA18906.hp1 |
a0001a0004a0011 | a0001c0001a0004c0004a0011c0038 | a0001c0001t0002a0004c0004t0032a0011c0038t0017 | a0001c0001t0002g0185 a0004c0004t0032g0208 a0011c0038t0017g0176 |
3 | 218 | 0.0138 | 11 | c.168 others(30): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76548923 | A | AGGTTAAT others(4): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18522.hp1 |
a0011a0013 | a0011c0038a0013c0012 | a0011c0038t0017a0013c0012t0006 | a0011c0038t0017g0176 a0013c0012t0006g0083 |
2 | 218 | 0.0092 | 11 | c.169 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |