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 | 100581319 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0006c0006t0002 | a0001c0001t0002g0018 a0006c0006t0002g0019 |
2 | 284 | 0.0070 | 30 | c.117 others(49): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495250 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0080 a0001c0001t0001g0122 |
3 | 249 | 0.0120 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495275 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0018 |
2 | 258 | 0.0078 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495275 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 257 | 0.0039 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495275 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0224 | 1 | 257 | 0.0039 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495277 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 208 | 0.0048 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495277 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 1 | 208 | 0.0048 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495277 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 208 | 0.0048 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495277 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02083.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0001g0191 others(1): Show |
4 | 211 | 0.0190 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125495277 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 208 | 0.0048 | 30 | c.597 others(47): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 5/13 | chr3 | TogoVar | |||||||
SNX4_chr3_125441650_125525202 | 125519948 | G | GGCCCGGC others(23): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 192 | 0.0052 | 30 | c.141 others(43): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34557496 | A | ATTCTTCT others(23): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 68 | 0.0147 | 30 | c.*56 others(41): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3596 | chr14 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763439 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0322 | 1 | 351 | 0.0028 | 30 | c.*33 others(41): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2940 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763441 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 312 | 0.0032 | 30 | c.*33 others(41): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2942 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 234 | 0.0043 | 30 | c.*33 others(41): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826916 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02602.hp2 HG02698.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0103 a0001c0001t0001g0111 others(4): Show |
7 | 189 | 0.0370 | 30 | c.12+ others(45): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157826942 | A | ACATATAT others(23): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 299 | 0.0033 | 30 | c.12+ others(45): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | chr6 | TogoVar | |||||||
SNX9_chr6_157818246_157950077 | 157840420 | T | TTTCTTTC others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0089 |
2 | 258 | 0.0078 | 30 | c.12+ others(47): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157844587 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0039 | 1 | 223 | 0.0045 | 30 | c.12+ others(47): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157899049 | T | TAGGGGAG others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01884.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0021 | a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0268 others(6): Show |
9 | 299 | 0.0301 | 30 | c.472 others(47): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179351721 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0014 | a0001c0014t0045 | a0001c0014t0045g0155 | 1 | 38 | 0.0263 | 30 | c.159 others(47): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOBP_chr6_107485117_107666306 | 107564581 | A | AACTAACT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0126 others(25): Show |
28 | 275 | 0.1018 | 30 | c.574 others(49): Show |
SOBP | ENSG00000112320.12 | transcript | ENST00000317357.10 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
SOCS4_chr14_55022236_55054489 | 55041783 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 47 | 0.0213 | 30 | c.-90 others(47): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOCS6_chr18_70284045_70335199 | 70285811 | G | GTTTCTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0154 | 1 | 296 | 0.0034 | 30 | c.-34 others(41): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 3233 | chr18 | TogoVar | |||||||
SOCS6_chr18_70284045_70335199 | 70324302 | A | AAATAATA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0076 others(3): Show |
6 | 326 | 0.0184 | 30 | c.-12 others(47): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SOCS7_chr17_38346844_38410593 | 38387133 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0006 | 1 | 194 | 0.0052 | 30 | c.168 others(49): Show |
SOCS7 | ENSG00000274211.6 | transcript | ENST00000612932.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36810717 | C | CCTCTCTC others(23): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 104 | 0.0096 | 30 | c.245 others(47): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 6/14 | chr20 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36184460 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 53 | 0.0189 | 30 | c.641 others(47): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185731505 | C | CCTCCCTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(106): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0023 a0001c0001t0001g0072 a0001c0001t0001g0083 others(106): Show |
109 | 307 | 0.3550 | 30 | c.-41 others(47): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185751172 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 199 | 0.0050 | 30 | c.-96 others(49): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185781633 | A | ATTGCCTC others(23): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0202 | 1 | 306 | 0.0033 | 30 | c.-23 others(49): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 1/26 | chr4 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106878620 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0113 | 1 | 36 | 0.0278 | 30 | c.627 others(49): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106878620 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03516.hp1 HG03710.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0019 a0001c0003t0001g0120 a0001c0003t0002g0005 |
3 | 38 | 0.0789 | 30 | c.627 others(49): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106878620 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0033 | 1 | 36 | 0.0278 | 30 | c.627 others(49): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106891504 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 45 | 0.0222 | 30 | c.627 others(49): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107088134 | G | GGTCTCGG others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01081.hp1 others(43): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0034 others(43): Show |
46 | 130 | 0.3538 | 30 | c.558 others(49): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 107088140 | G | GGTCTCCT others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01258.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0002g0011 a0001c0001t0002g0023 a0001c0001t0002g0096 others(12): Show |
15 | 130 | 0.1154 | 30 | c.558 others(49): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7373478 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0016 | a0016c0040 | a0016c0040t0003 | a0016c0040t0003g0024 | 1 | 31 | 0.0323 | 30 | c.481 others(49): 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(23): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0147 | 1 | 31 | 0.0323 | 30 | c.481 others(49): 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(23): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0101 | 1 | 31 | 0.0323 | 30 | c.481 others(49): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7540161 | T | TCTCCCTG others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG03471.hp2 others(1): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0046a0004c0007others(1): Show | a0001c0001t0013a0003c0046t0001a0004c0007t0014others(1): Show | a0001c0001t0013g0099 a0003c0046t0001g0164 a0004c0007t0014g0166 others(1): Show |
4 | 19 | 0.2105 | 30 | c.648 others(47): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724573 | A | ATGGTGAT others(23): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0021 | 1 | 138 | 0.0072 | 30 | c.261 others(47): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696390 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02717.hp2 HG02809.hp1 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0003a0002c0004t0001 | a0001c0001t0001g0040 a0001c0002t0003g0006 a0002c0004t0001g0002 |
3 | 108 | 0.0278 | 30 | c.627 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104696413 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01106.hp2 others(42): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0100 others(42): Show |
45 | 71 | 0.6338 | 30 | c.627 others(49): 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(23): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 13 | 0.0769 | 30 | c.627 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 104856500 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01081.hp1 others(30): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0076 a0001c0001t0001g0124 a0001c0001t0002g0016 others(30): Show |
33 | 134 | 0.2463 | 30 | c.695 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105242575 | T | TATTTATA others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03017.hp1 NA20905.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0073 a0001c0002t0001g0102 a0002c0004t0001g0001 |
3 | 127 | 0.0236 | 30 | c.286 others(49): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORD_chr15_45018195_45082185 | 45020856 | G | GTGAGCAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 306 | 0.0033 | 30 | c.-24 others(41): Show |
SORD | ENSG00000140263.15 | transcript | ENST00000267814.14 | protein_coding | 2338 | chr15 | TogoVar | |||||||
SORL1_chr11_121447314_121638763 | 121547417 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18951.hp1 |
a0002 | a0002c0007 | a0002c0007t0001a0002c0007t0017 | a0002c0007t0001g0124 a0002c0007t0017g0123 |
2 | 12 | 0.1667 | 30 | c.205 others(49): Show |
SORL1 | ENSG00000137642.13 | transcript | ENST00000260197.12 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SOS2_chr14_50112130_50236578 | 50209274 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 a0001c0001t0001g0262 a0001c0001t0001g0269 others(1): Show |
4 | 37 | 0.1081 | 30 | c.88- others(45): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar |