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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNX31_chr8_100567889_100654665 | 100641545 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02976.hp1 HG06807.hp1 others(1): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0008 | a0002c0002t0003a0003c0003t0001a0008c0008t0001others(1): Show | a0002c0002t0003g0295 a0003c0003t0001g0188 a0008c0008t0001g0174 others(1): Show |
4 | 263 | 0.0152 | 11 | c.142 others(28): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
SNX31_chr8_100567889_100654665 | 100641565 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0181 | 1 | 242 | 0.0041 | 11 | c.142 others(28): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
SNX32_chr11_65828963_65858701 | 65839223 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 285 | 0.0035 | 11 | c.36+ others(26): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SNX32_chr11_65828963_65858701 | 65839225 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0002g0010 a0001c0001t0002g0012 |
4 | 28 | 0.1429 | 11 | c.36+ others(26): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SNX4_chr3_125441650_125525202 | 125471344 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0253 a0001c0001t0001g0288 a0001c0001t0001g0301 others(1): Show |
4 | 124 | 0.0323 | 11 | c.789 others(28): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 8/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495250 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 247 | 0.0040 | 11 | c.597 others(28): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557935 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG00735.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0169 a0001c0001t0001g0252 a0001c0001t0002g0087 others(41): Show |
44 | 96 | 0.4583 | 11 | c.*51 others(22): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3157 | chr14 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34578937 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0021 | a0001c0001t0003g0270 a0001c0001t0003g0293 a0001c0001t0003g0294 others(6): Show |
9 | 48 | 0.1875 | 11 | c.834 others(28): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 10/13 | chr14 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98669640 | C | CAATTTGA others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 376 | 0.0027 | 11 | c.180 others(28): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98721343 | G | GTGCATGT others(4): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0179 | 1 | 376 | 0.0027 | 11 | c.112 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98748637 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19005.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0128 a0002c0003t0001g0188 |
2 | 18 | 0.1111 | 11 | c.127 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | AAATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 234 | 0.0043 | 11 | c.*33 others(22): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826791 | T | TTTTATAT others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG03139.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0002 a0001c0003t0003g0283 |
3 | 284 | 0.0106 | 11 | c.12+ others(26): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157834149 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02717.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0002c0002t0002g0045 |
3 | 186 | 0.0161 | 11 | c.12+ others(28): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02559.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0003g0285 a0001c0001t0005g0287 a0001c0001t0013g0296 others(1): Show |
4 | 226 | 0.0177 | 11 | c.12+ others(28): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157894106 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0300 | 1 | 179 | 0.0056 | 11 | c.301 others(28): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157931198 | G | GTGTAGAA others(4): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0055 | 1 | 300 | 0.0033 | 11 | c.128 others(28): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 12/17 | chr6 | TogoVar | |||||||
SOAT1_chr1_179288797_179363680 | 179351721 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0028others(18): Show | a0001c0001t0002g0311 a0001c0001t0002g0326 a0001c0001t0013g0318 others(70): Show |
75 | 112 | 0.6696 | 11 | c.159 others(28): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107490069 | C | CCGCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0235 | 1 | 294 | 0.0034 | 11 | c.-54 others(20): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 47 | chr6 | TogoVar | |||||||
SOBP_chr6_107485117_107666306 | 107602568 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02615.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0053 a0001c0001t0001g0138 a0001c0001t0001g0141 others(6): Show |
9 | 64 | 0.1406 | 11 | c.669 others(30): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOCS3_chr17_78351778_78365077 | 78352961 | G | GGGCGGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG01106.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0010 others(4): Show |
31 | 178 | 0.1742 | 11 | c.*54 others(22): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 3816 | chr17 | TogoVar | |||||||
SOCS3_chr17_78351778_78365077 | 78359951 | G | GGGAGGGG others(4): Show |
5_prime_UTR_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0029 | 1 | 466 | 0.0021 | 11 | c.-30 others(20): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 1/2 | 857 | chr17 | TogoVar | ||||||
SOCS3_chr17_78351778_78365077 | 78362309 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01993.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0008g0007 |
8 | 218 | 0.0367 | 11 | c.-26 others(22): Show |
SOCS3 | ENSG00000184557.4 | transcript | ENST00000330871.3 | protein_coding | 2233 | chr17 | TogoVar | |||||||
SOCS4_chr14_55022236_55054489 | 55041783 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02897.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 3 | 49 | 0.0612 | 11 | c.-90 others(28): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38351880 | C | CCTGGGCT others(4): Show |
5_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0017 a0001c0002t0011g0018 a0001c0002t0011g0019 others(2): Show |
5 | 288 | 0.0174 | 11 | c.-16 others(20): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 1/10 | 153 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SOD1_chr21_31654693_31673931 | 31664639 | G | GACGGAGT others(4): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 424 | 0.0024 | 11 | c.169 others(26): Show |
SOD1 | ENSG00000142168.15 | transcript | ENST00000270142.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SOD3_chr4_24790573_24805842 | 24796435 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18981.hp1 NA19005.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0030 a0001c0003t0001g0030 |
3 | 36 | 0.0833 | 11 | c.-17 others(26): Show |
SOD3 | ENSG00000109610.6 | transcript | ENST00000382120.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36810717 | C | CTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 104 | 0.0096 | 11 | c.245 others(28): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 6/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36813313 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0002a0001c0012a0001c0024 | a0001c0002t0008a0001c0012t0001a0001c0024t0008 | a0001c0002t0008g0130 a0001c0002t0008g0238 a0001c0012t0001g0042 others(2): Show |
5 | 9 | 0.5556 | 11 | c.231 others(28): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 5/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36841874 | G | GGGTGTGT others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 78 | 0.0128 | 11 | c.688 others(28): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOGA1_chr20_36772447_36868538 | 36849060 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01257.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0021others(9): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0277 others(19): Show |
22 | 24 | 0.9167 | 11 | c.688 others(28): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
SOHLH1_chr9_135688407_135704481 | 135694726 | T | TCCCTCCC others(4): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 11 | c.876 others(26): Show |
SOHLH1 | ENSG00000165643.11 | transcript | ENST00000425225.2 | protein_coding | 6/7 | chr9 | TogoVar | |||||||
SOHLH1_chr9_135688407_135704481 | 135702026 | A | ATCCCTGG others(4): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(246): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(38): Show |
249 | 416 | 0.5986 | 11 | c.-25 others(22): Show |
SOHLH1 | ENSG00000165643.11 | transcript | ENST00000425225.2 | protein_coding | 2546 | chr9 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36196126 | A | AGATAGAT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 418 | 0.0024 | 11 | c.264 others(28): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 2/10 | chr13 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33580463 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 NA18941.hp2 NA18979.hp2 others(1): Show |
a0001a0025 | a0001c0001a0025c0039 | a0001c0001t0001a0025c0039t0001 | a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0091 others(1): Show |
4 | 12 | 0.3333 | 11 | c.*40 others(22): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 2983 | chr21 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95347441 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 80 | 0.0125 | 11 | c.238 others(29): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 25/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95365218 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0221 | 1 | 288 | 0.0035 | 11 | c.195 others(30): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 22/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95413966 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 | 1 | 35 | 0.0286 | 11 | c.810 others(26): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 9/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95467886 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0075 | 1 | 107 | 0.0093 | 11 | c.-46 others(30): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95499063 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0240 | 1 | 8 | 0.1250 | 11 | c.-13 others(30): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 1/32 | chr10 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185688492 | T | TGATGATA others(4): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0020 | a0003c0020t0073 | a0003c0020t0073g0295 | 1 | 252 | 0.0040 | 11 | c.10+ others(26): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 4/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185694706 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02280.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0002c0014a0008c0036 | a0001c0001t0003a0001c0001t0004a0001c0001t0019others(3): Show | a0001c0001t0003g0292 a0001c0001t0004g0293 a0001c0001t0019g0219 others(3): Show |
6 | 137 | 0.0438 | 11 | c.-40 others(28): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185709304 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0082 | 1 | 145 | 0.0069 | 11 | c.-40 others(30): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185709320 | T | TTTCTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01256.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0011others(6): Show | a0001c0001t0003g0292 a0001c0001t0010g0027 a0001c0001t0010g0107 others(8): Show |
11 | 264 | 0.0417 | 11 | c.-40 others(30): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185751190 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0184 a0001c0001t0005g0279 |
2 | 198 | 0.0101 | 11 | c.-96 others(30): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185767499 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18964.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0047 | a0001c0001t0013g0173 a0001c0001t0047g0177 |
2 | 153 | 0.0131 | 11 | c.-97 others(28): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185809455 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0025 | a0001c0001t0039a0001c0025t0063 | a0001c0001t0039g0009 a0001c0025t0063g0213 |
2 | 47 | 0.0426 | 11 | c.-23 others(30): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORBS3_chr8_22546927_22580788 | 22575902 | T | TTTGTGTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0244 | 1 | 162 | 0.0062 | 11 | c.*11 others(22): Show |
SORBS3 | ENSG00000120896.14 | transcript | ENST00000240123.12 | protein_coding | 115 | chr8 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106674328 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00639.hp1 others(9): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(6): Show | a0001c0001t0002g0031 a0001c0001t0002g0096 a0001c0001t0002g0103 others(9): Show |
12 | 39 | 0.3077 | 11 | c.194 others(28): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 14/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106751058 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01243.hp2 HG02145.hp1 |
a0001a0008 | a0001c0001a0001c0003a0008c0029 | a0001c0001t0002a0001c0003t0002a0008c0029t0005 | a0001c0001t0002g0069 a0001c0003t0002g0047 a0008c0029t0005g0127 |
3 | 12 | 0.2500 | 11 | c.959 others(30): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 5/25 | chr10 | TogoVar |