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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0146 | 1 | 81 | 0.0123 | 29 | c.73- others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056542 | A | AGGGAGGG others(22): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0151 | 1 | 159 | 0.0063 | 29 | c.73- others(46): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX12_chrX_71054247_71073334 | 71071544 | T | TTATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0034 |
2 | 226 | 0.0088 | 29 | c.-32 others(40): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3211 | chrX | TogoVar | |||||||
SNX12_chrX_71054247_71073334 | 71071604 | T | TATATATA others(22): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02647.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0021 |
4 | 270 | 0.0148 | 29 | c.-32 others(40): Show |
SNX12 | ENSG00000147164.12 | transcript | ENST00000374274.8 | protein_coding | 3271 | chrX | TogoVar | |||||||
SNX18_chr5_54512759_54551586 | 54513648 | T | TATTATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 36 | 0.0278 | 29 | c.-43 others(40): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 4110 | chr5 | TogoVar | |||||||
SNX27_chr1_151607050_151704080 | 151681235 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0237 a0001c0001t0008g0208 |
2 | 120 | 0.0167 | 29 | c.115 others(48): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12013500 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0007 | a0001c0007t0062 | a0001c0007t0062g0114 | 1 | 54 | 0.0185 | 29 | c.122 others(48): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12380159 | C | CCTAAGGG others(22): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01496.hp2 HG01891.hp2 others(17): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0006g0064 a0001c0001t0007g0088 a0001c0001t0008g0008 others(17): Show |
20 | 174 | 0.1149 | 29 | c.190 others(50): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX31_chr8_100567889_100654665 | 100641565 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0183 | 1 | 242 | 0.0041 | 29 | c.142 others(46): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763441 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02109.hp1 HG03688.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0065 others(2): Show |
5 | 316 | 0.0158 | 29 | c.*33 others(40): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2942 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | ATATATAT others(22): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0245 |
2 | 235 | 0.0085 | 29 | c.*33 others(40): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2278294 | G | GTGTCGGC others(22): Show |
frameshift_variant | HIGH | HG00733.hp1 | a0007 | a0007c0017 | a0007c0017t0002 | a0007c0017t0002g0325 | 1 | 368 | 0.0027 | 29 | c.95- others(38): Show |
p.Pro others(4): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 2/11 | 125/4704 | 105/1398 | 35/465 | chr7 | TogoVar | |||
SNX8_chr7_2246770_2319441 | 2278817 | G | GACTCACA others(22): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 355 | 0.0028 | 29 | c.95- others(42): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2279094 | A | AGCCGGAC others(22): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0304 | 1 | 203 | 0.0049 | 29 | c.95- others(42): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2279094 | A | AGCCGGAC others(22): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00738.hp1 others(38): Show |
a0001a0004 | a0001c0001a0004c0013 | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0074 others(38): Show |
41 | 243 | 0.1687 | 29 | c.95- others(42): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2279115 | G | GGAGTCGA others(22): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 368 | 0.0027 | 29 | c.95- others(42): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826849 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(107): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(9): Show | a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 others(107): Show |
110 | 223 | 0.4933 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157826944 | A | AATATATT others(22): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 207 | 0.0048 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827026 | A | ATAAATAT others(22): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0048 | 1 | 300 | 0.0033 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827203 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0058 | 1 | 294 | 0.0034 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827283 | A | ATATATAA others(22): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 299 | 0.0033 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827312 | A | ATATATAA others(22): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0275 | 1 | 300 | 0.0033 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827341 | A | ATATATAA others(22): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01361.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0272 a0001c0003t0003g0273 |
2 | 296 | 0.0068 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827514 | C | CTTATAGT others(22): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 229 | 0.0044 | 29 | c.12+ others(44): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 223 | 0.0045 | 29 | c.12+ others(46): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS4_chr14_55022236_55054489 | 55041783 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00741.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0003g0047 |
4 | 50 | 0.0800 | 29 | c.-90 others(46): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36810717 | C | CTCTCTCT others(22): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 104 | 0.0096 | 29 | c.245 others(46): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 6/14 | chr20 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36184460 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0247 | 1 | 53 | 0.0189 | 29 | c.641 others(46): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95347441 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0010 | a0010c0035 | a0010c0035t0023 | a0010c0035t0023g0218 | 1 | 80 | 0.0125 | 29 | c.238 others(46): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 25/32 | chr10 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185588587 | T | TCTCCTTC others(22): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG01257.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(34): Show | a0001c0001t0003g0062 a0001c0001t0003g0110 a0001c0001t0003g0137 others(63): Show |
66 | 213 | 0.3099 | 29 | c.384 others(46): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 26/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185751172 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0005 | a0005c0019 | a0005c0019t0032 | a0005c0019t0032g0245 | 1 | 199 | 0.0050 | 29 | c.-96 others(48): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106599367 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0039 | 1 | 126 | 0.0079 | 29 | c.316 others(48): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 23/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106916490 | C | CATATATA others(22): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0129 | 1 | 130 | 0.0077 | 29 | c.626 others(48): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0016 | a0001c0016t0006 | a0001c0016t0006g0039 | 1 | 31 | 0.0323 | 29 | c.481 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02572.hp1 HG02572.hp2 others(1): Show |
a0003a0004a0006others(1): Show | a0003c0042a0004c0043a0006c0008others(1): Show | a0003c0042t0004a0004c0043t0031a0006c0008t0001others(1): Show | a0003c0042t0004g0066 a0004c0043t0031g0058 a0006c0008t0001g0029 others(1): Show |
4 | 34 | 0.1176 | 29 | c.481 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0011 | 1 | 31 | 0.0323 | 29 | c.481 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7393916 | G | GGGTCCTT others(22): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0005t0001 | a0001c0002t0003g0028 a0001c0005t0001g0156 |
2 | 168 | 0.0119 | 29 | c.481 others(46): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7441801 | C | CCAGCCCA others(22): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0046 | a0003c0046t0001 | a0003c0046t0001g0164 | 1 | 108 | 0.0093 | 29 | c.548 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7477301 | T | TTTCAGTG others(22): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0008 | 1 | 28 | 0.0357 | 29 | c.549 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7477301 | T | TTTCAGTG others(22): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(137): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(42): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(106): Show | a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 others(137): Show |
140 | 167 | 0.8383 | 29 | c.549 others(48): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS3_chr10_104636290_105270242 | 104696153 | T | TATATCAT others(22): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 123 | 0.0081 | 29 | c.627 others(48): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104735456 | G | GTTTTTTT others(22): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 13 | 0.0769 | 29 | c.627 others(48): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORL1_chr11_121447314_121638763 | 121547417 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0058 | a0001c0058t0011 | a0001c0058t0011g0166 | 1 | 11 | 0.0909 | 29 | c.205 others(48): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SOS1_chr2_38976549_39126051 | 39038732 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0124 |
2 | 51 | 0.0392 | 29 | c.865 others(46): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 6/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50189331 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | NA18974.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0234 |
2 | 48 | 0.0417 | 29 | c.511 others(44): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 4/22 | chr14 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132813036 | T | TAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG02055.hp2 HG03486.hp1 |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0003a0005c0007t0006 | a0003c0004t0003g0000 a0005c0007t0006g0000 |
3 | 330 | 0.0091 | 29 | c.-58 others(38): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 265 | chr5 | TogoVar | |||||||
SOWAHC_chr2_109609364_109623990 | 109610095 | G | GTTTTTTT others(22): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 2 | 349 | 0.0057 | 29 | c.-43 others(40): Show |
SOWAHC | ENSG00000198142.5 | transcript | ENST00000356454.5 | protein_coding | 4268 | chr2 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23713696 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0057 | 1 | 210 | 0.0048 | 29 | c.810 others(48): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837264 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0144 | 1 | 197 | 0.0051 | 29 | c.481 others(46): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230354881 | G | GAAAGAAA others(22): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02257.hp1 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0013 | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0139 a0001c0001t0001g0164 others(5): Show |
9 | 278 | 0.0324 | 29 | c.108 others(46): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |