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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3RF2_chr5_145931578_146068292 | 146035455 | A | AAAAGCTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(83): Show |
a0001a0004a0006others(6): Show | a0001c0001a0001c0010a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(13): Show | a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0002g0004 others(82): Show |
86 | 270 | 0.3185 | 9 | c.106 others(30): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109241257 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0003a0001c0001t0007a0001c0001t0024others(4): Show | a0001c0001t0003g0124 a0001c0001t0007g0145 a0001c0001t0024g0141 others(4): Show |
7 | 36 | 0.1944 | 9 | c.574 others(30): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148980642 | T | TTTGTTGT others(2): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG03209.hp2 |
a0001 | a0001c0005 | a0001c0005t0032a0001c0005t0140 | a0001c0005t0032g0076 a0001c0005t0032g0207 a0001c0005t0140g0075 |
3 | 256 | 0.0117 | 9 | c.*24 others(22): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 1507 | chr5 | TogoVar | |||||||
SH3YL1_chr2_213144_269032 | 220188 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0099 others(7): Show |
14 | 166 | 0.0843 | 9 | c.839 others(26): Show |
SH3YL1 | ENSG00000035115.22 | transcript | ENST00000356150.10 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50702151 | G | GTTGAGGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(157): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0004others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(108): Show | a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0097 others(156): Show |
160 | 314 | 0.5096 | 9 | c.174 others(26): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 12/23 | chr19 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48910083 | A | AAGGTATG others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(36): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0013 | a0001c0001t0003a0001c0001t0013a0002c0003t0001others(4): Show | a0001c0001t0003g0063 a0001c0001t0003g0080 a0001c0001t0003g0096 others(36): Show |
39 | 382 | 0.1021 | 9 | c.656 others(28): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48919295 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG01081.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0068 others(34): Show |
38 | 82 | 0.4634 | 9 | c.656 others(26): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924701 | G | GAAAGGAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01258.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0195 a0001c0001t0001g0232 a0001c0001t0001g0233 others(5): Show |
8 | 132 | 0.0606 | 9 | c.118 others(28): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182925028 | G | GAGGAAGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01070.hp2 others(60): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0014 | a0001c0001t0001a0002c0002t0001a0007c0014t0001 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(60): Show |
63 | 300 | 0.2100 | 9 | c.118 others(28): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182925070 | G | GGGAAGGA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01884.hp1 HG02109.hp2 others(11): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 a0001c0003t0001g0109 a0001c0003t0001g0110 others(11): Show |
14 | 300 | 0.0467 | 9 | c.118 others(28): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182956989 | C | CCAATTAC others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00642.hp2 others(93): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0009t0001others(4): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(93): Show |
96 | 300 | 0.3200 | 9 | c.-38 others(20): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 3824 | chr1 | TogoVar | |||||||
SHD_chr19_4274266_4295722 | 4285889 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02486.hp2 HG02559.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0005t0001others(2): Show | a0001c0001t0003g0184 a0001c0001t0003g0319 a0001c0001t0004g0114 others(8): Show |
11 | 151 | 0.0728 | 9 | c.716 others(25): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHD_chr19_4274266_4295722 | 4295260 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG02735.hp1 HG02895.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0005t0001others(3): Show | a0001c0001t0002g0103 a0001c0001t0003g0145 a0001c0005t0001g0028 others(5): Show |
8 | 171 | 0.0468 | 9 | c.*46 others(20): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 4539 | chr19 | TogoVar | |||||||
SHFL_chr19_10081317_10098243 | 10088953 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0052 others(2): Show |
9 | 183 | 0.0492 | 9 | c.196 others(24): Show |
SHFL | ENSG00000130813.18 | transcript | ENST00000253110.16 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SHISA6_chr17_11236213_11569063 | 11237575 | G | GGAAGAAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00735.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0016 a0001c0001t0001g0038 a0001c0001t0001g0133 others(28): Show |
31 | 55 | 0.5636 | 9 | c.-38 others(20): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3637 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11237614 | A | AGAAGAAG others(2): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0031 | a0001c0001t0013g0116 a0001c0001t0031g0117 |
2 | 183 | 0.0109 | 9 | c.-38 others(20): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3598 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11350185 | T | TATTTATT others(2): Show |
intron_variant | MODIFIER | HG01258.hp1 HG01981.hp1 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0031 a0001c0001t0001g0163 a0001c0001t0002g0008 others(8): Show |
11 | 171 | 0.0643 | 9 | c.800 others(28): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SHISA6_chr17_11236213_11569063 | 11484095 | A | AACATGAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0046 | a0001c0001t0003g0153 a0001c0001t0046g0048 |
2 | 190 | 0.0105 | 9 | c.896 others(28): Show |
SHISA6 | ENSG00000188803.15 | transcript | ENST00000441885.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SHISA7_chr19_55423740_55448300 | 55435366 | T | TGTATATG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(168): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(74): Show |
171 | 367 | 0.4659 | 9 | c.977 others(26): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
SHISA7_chr19_55423740_55448300 | 55444337 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02970.hp1 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0123 a0001c0001t0003g0014 a0001c0001t0003g0116 others(3): Show |
7 | 131 | 0.0534 | 9 | c.-14 others(20): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 1038 | chr19 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 12972041 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0084 | a0001c0001t0064g0112 a0001c0001t0084g0151 |
2 | 38 | 0.0526 | 9 | c.691 others(28): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13187329 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp2 others(61): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0085 others(61): Show |
64 | 211 | 0.3033 | 9 | c.692 others(28): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SHISA9_chr16_12896598_13245416 | 13200442 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0076 | a0001c0001t0063g0138 a0001c0001t0076g0108 |
2 | 148 | 0.0135 | 9 | c.692 others(26): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 2/4 | chr16 | TogoVar | |||||||
SHISA9_chr16_12896598_13245416 | 13238815 | T | TTTATTAT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG02129.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0030a0001c0001t0044others(1): Show | a0001c0001t0023g0119 a0001c0001t0023g0195 a0001c0001t0030g0013 others(3): Show |
6 | 50 | 0.1200 | 9 | c.*34 others(20): Show |
SHISA9 | ENSG00000237515.10 | transcript | ENST00000558583.3 | protein_coding | 5/5 | 3444 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SHISAL2B_chr5_64685503_64723190 | 64702600 | A | ATATAATT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0078 |
3 | 388 | 0.0077 | 9 | c.349 others(26): Show |
SHISAL2B | ENSG00000145642.12 | transcript | ENST00000389074.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5828321 | T | TGTGTAGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0028 others(201): Show |
204 | 326 | 0.6258 | 9 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD1_chr20_5745401_5869395 | 5850112 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(58): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0063 a0001c0001t0001g0104 others(58): Show |
61 | 74 | 0.8243 | 9 | c.179 others(28): Show |
SHLD1 | ENSG00000171984.15 | transcript | ENST00000303142.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87107107 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03041.hp1 NA18970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 others(4): Show |
7 | 270 | 0.0259 | 9 | c.-6+ others(26): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SHLD2_chr10_87090206_87196465 | 87145701 | T | TTTGTTCA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 others(4): Show |
7 | 338 | 0.0207 | 9 | c.-5- others(24): Show |
SHLD2 | ENSG00000122376.12 | transcript | ENST00000298786.5 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
SHOC2_chr10_110914604_111018665 | 110930735 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(113): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
116 | 182 | 0.6374 | 9 | c.-23 others(30): 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(2): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02976.hp2 NA18747.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0002g0167 a0001c0001t0002g0177 others(3): Show |
6 | 39 | 0.1538 | 9 | c.-23 others(30): 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(2): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 NA18979.hp2 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0030 | a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0002g0028 others(1): Show |
4 | 360 | 0.0111 | 9 | c.-59 others(18): Show |
SHOX2 | ENSG00000168779.21 | transcript | ENST00000483851.7 | protein_coding | 201 | chr3 | TogoVar | |||||||
SHPK_chr17_3603240_3641250 | 3631512 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02135.hp2 HG03831.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 others(5): Show |
8 | 56 | 0.1429 | 9 | c.169 others(26): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72762945 | G | GATTATAG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00558.hp1 others(46): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0008a0004c0004others(3): Show | a0002c0002t0001a0002c0002t0005a0002c0008t0001others(4): Show | a0002c0002t0001g0080 a0002c0002t0001g0113 a0002c0002t0001g0114 others(46): Show |
49 | 220 | 0.2227 | 9 | c.118 others(30): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SHQ1_chr3_72744277_72853445 | 72840223 | G | GCCTGGGC others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01255.hp1 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0002c0002t0001g0011 others(7): Show |
10 | 220 | 0.0455 | 9 | c.486 others(24): Show |
SHQ1 | ENSG00000144736.14 | transcript | ENST00000325599.13 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SHROOM1_chr5_132817141_132835647 | 132822351 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01256.hp2 HG01516.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0035 a0002c0002t0010g0048 a0002c0002t0010g0056 others(2): Show |
7 | 134 | 0.0522 | 9 | c.*43 others(18): Show |
SHROOM1 | ENSG00000164403.15 | transcript | ENST00000378679.8 | protein_coding | 10/10 | 444 | chr5 | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9795117 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01099.hp1 others(19): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0034others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0034t0001others(11): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 others(19): Show |
22 | 252 | 0.0873 | 9 | c.165 others(26): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9823073 | T | TTCTCCCT others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18612.hp1 NA18979.hp2 others(1): Show |
a0001a0012 | a0001c0003a0012c0021 | a0001c0003t0001a0012c0021t0001 | a0001c0003t0001g0151 a0001c0003t0001g0159 a0012c0021t0001g0085 others(1): Show |
4 | 241 | 0.0166 | 9 | c.165 others(28): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
SHROOM2_chrX_9781429_9954443 | 9827223 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01884.hp1 others(37): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0012others(22): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(26): Show | a0001c0001t0001g0037 a0001c0001t0001g0045 a0001c0001t0001g0080 others(37): Show |
40 | 90 | 0.4444 | 9 | c.165 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(57): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0007others(14): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0013others(18): Show | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(57): Show |
60 | 175 | 0.3429 | 9 | c.166 others(28): 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(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0080 others(18): Show |
21 | 31 | 0.6774 | 9 | c.317 others(26): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM3_chr4_76430229_76788253 | 76693370 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(35): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0003a0002c0043others(10): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0003others(16): Show | a0001c0001t0002g0042 a0002c0003t0001g0002 a0002c0003t0001g0013 others(35): Show |
38 | 122 | 0.3115 | 9 | c.324 others(28): Show |
SHROOM3 | ENSG00000138771.16 | transcript | ENST00000296043.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SHROOM4_chrX_50581796_50819194 | 50618426 | T | TCCTTCCT others(2): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18943.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0139 a0001c0001t0001g0148 |
3 | 167 | 0.0180 | 9 | c.295 others(28): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 5/8 | chrX | TogoVar | |||||||
SHROOM4_chrX_50581796_50819194 | 50813160 | T | TGGCGGCG others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01928.hp1 NA19030.hp1 |
a0001a0003a0016 | a0001c0001a0003c0012a0016c0011 | a0001c0001t0003a0003c0012t0011a0016c0011t0030 | a0001c0001t0003g0168 a0003c0012t0011g0003 a0016c0011t0030g0002 |
3 | 61 | 0.0492 | 9 | c.117 others(24): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | |||||||
SIAH1_chr16_48355531_48390413 | 48380928 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0002t0004others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0040 a0001c0001t0002g0054 others(7): Show |
12 | 16 | 0.7500 | 9 | c.-3+ others(24): Show |
SIAH1 | ENSG00000196470.12 | transcript | ENST00000394725.3 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
SIDT2_chr11_117173743_117202442 | 117195085 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01934.hp2 HG01943.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0010 a0001c0001t0002g0138 a0001c0001t0002g0169 others(3): Show |
11 | 99 | 0.1111 | 9 | c.232 others(26): Show |
SIDT2 | ENSG00000149577.17 | transcript | ENST00000324225.9 | protein_coding | 24/25 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401010 | G | GCTCACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 HG01934.hp2 HG01975.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0032 a0003c0005t0001g0072 a0003c0005t0001g0073 |
3 | 200 | 0.0150 | 9 | c.*48 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4705 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401785 | G | GACCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0194 |
2 | 181 | 0.0110 | 9 | c.*41 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3930 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401785 | G | GGCCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(10): Show |
18 | 197 | 0.0914 | 9 | c.*41 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3930 | chr11 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401808 | G | GGCCCCGC others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00738.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0011 others(14): Show |
19 | 198 | 0.0960 | 9 | c.*40 others(20): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3907 | chr11 | TogoVar |