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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTG1_chr8_49906407_50801692 | 50701618 | C | CTTCTTCT others(16): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0005 | 1 | 85 | 0.0118 | 23 | c.103 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | chr8 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 996673 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02895.hp2 HG03239.hp2 others(1): Show |
a0002a0003a0004others(1): Show | a0002c0005a0003c0008a0004c0004others(1): Show | a0002c0005t0001a0003c0008t0002a0004c0004t0001others(1): Show | a0002c0005t0001g0156 a0003c0008t0002g0072 a0004c0004t0001g0177 others(1): Show |
4 | 5 | 0.8000 | 23 | c.72+ others(40): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0032 | 1 | 81 | 0.0123 | 23 | c.73- others(40): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02145.hp2 NA19000.hp2 |
a0001a0021 | a0001c0002a0021c0027 | a0001c0002t0001a0021c0027t0001 | a0001c0002t0001g0118 a0021c0027t0001g0136 |
2 | 82 | 0.0244 | 23 | c.73- others(40): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02572.hp2 NA19030.hp2 |
a0004a0010 | a0004c0004a0010c0029 | a0004c0004t0001a0010c0029t0001 | a0004c0004t0001g0149 a0010c0029t0001g0152 |
2 | 82 | 0.0244 | 23 | c.73- others(40): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0011 | 1 | 81 | 0.0123 | 23 | c.73- others(40): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1080180 | G | GCATCGGT others(16): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02280.hp2 others(11): Show |
a0001a0004a0005others(5): Show | a0001c0002a0004c0014a0005c0006others(5): Show | a0001c0002t0001a0001c0002t0002a0004c0014t0002others(6): Show | a0001c0002t0001g0041 a0001c0002t0001g0069 a0001c0002t0001g0118 others(11): Show |
14 | 188 | 0.0745 | 23 | c.73- others(38): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNX10_chr7_26286862_26379383 | 26325328 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 384 | 0.0026 | 23 | c.-23 others(42): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 1/6 | chr7 | TogoVar | |||||||
SNX11_chr17_48102766_48128601 | 48105324 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 50 | 0.0200 | 23 | c.-25 others(34): Show |
SNX11 | ENSG00000002919.15 | transcript | ENST00000359238.7 | protein_coding | 2441 | chr17 | TogoVar | |||||||
SNX15_chr11_65022439_65045572 | 65039029 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(43): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0097 a0001c0001t0005g0085 a0001c0001t0005g0092 others(16): Show |
46 | 202 | 0.2277 | 23 | c.922 others(38): Show |
SNX15 | ENSG00000110025.13 | transcript | ENST00000377244.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SNX25_chr4_185204598_185368966 | 185234681 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 |
2 | 267 | 0.0075 | 23 | c.430 others(42): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151652211 | A | AGGGAGAG others(16): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0339 |
2 | 364 | 0.0055 | 23 | c.544 others(40): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151681235 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02273.hp1 NA18941.hp1 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0273 a0002c0002t0001g0227 a0002c0002t0001g0228 |
3 | 121 | 0.0248 | 23 | c.115 others(42): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 11979275 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0097 | a0001c0004t0097g0125 | 1 | 9 | 0.1111 | 23 | c.7+2 others(36): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12013500 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0019 | 1 | 54 | 0.0185 | 23 | c.122 others(42): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12013500 | A | AAAAACAT others(16): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0021 | a0001c0004t0021g0081 | 1 | 54 | 0.0185 | 23 | c.122 others(42): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12380377 | C | CACCCACC others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(54): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0113 a0001c0001t0001g0163 a0001c0001t0002g0020 others(54): Show |
57 | 172 | 0.3314 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12380377 | C | CACCCACC others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0101 | a0001c0001t0031g0143 a0001c0001t0101g0001 |
2 | 117 | 0.0171 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12380988 | T | TCCACCCA others(16): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0008 | a0008c0010 | a0008c0010t0098 | a0008c0010t0098g0022 | 1 | 174 | 0.0057 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12381079 | T | TCCACCCA others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG02922.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0021others(1): Show | a0001c0001t0007a0001c0001t0017a0001c0003t0002others(3): Show | a0001c0001t0007g0088 a0001c0001t0017g0103 a0001c0003t0002g0058 others(3): Show |
6 | 103 | 0.0583 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12381079 | T | TCCACCCA others(16): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG01496.hp2 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0002g0169 a0001c0001t0006g0064 a0001c0001t0008g0008 others(12): Show |
15 | 112 | 0.1339 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12381195 | C | CCACCCAC others(16): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0002a0001c0002t0024a0001c0013t0092 | a0001c0001t0002g0169 a0001c0002t0024g0050 a0001c0013t0092g0126 |
3 | 59 | 0.0508 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | chr16 | TogoVar | |||||||
SNX29_chr16_11971734_12579287 | 12381195 | C | CCACCCAC others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(60): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(53): Show | a0001c0001t0002g0065 a0001c0001t0006g0064 a0001c0001t0007g0088 others(60): Show |
63 | 119 | 0.5294 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | chr16 | TogoVar | |||||||
SNX29_chr16_11971734_12579287 | 12381196 | G | GACCCACC others(16): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0007a0001c0001t0028a0001c0001t0034others(8): Show | a0001c0001t0007g0016 a0001c0001t0007g0150 a0001c0001t0028g0123 others(11): Show |
14 | 56 | 0.2500 | 23 | c.190 others(44): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNX2_chr5_122770080_122839543 | 122806140 | G | GCAGCGCG others(16): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0149 | 1 | 368 | 0.0027 | 23 | c.644 others(40): Show |
SNX2 | ENSG00000205302.7 | transcript | ENST00000379516.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNX30_chr9_112745760_112879987 | 112754432 | A | AAGGGGGG others(16): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 336 | 0.0030 | 23 | c.156 others(40): Show |
SNX30 | ENSG00000148158.17 | transcript | ENST00000374232.8 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
SNX31_chr8_100567889_100654665 | 100641565 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0185 | 1 | 242 | 0.0041 | 23 | c.142 others(40): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 2/13 | chr8 | TogoVar | |||||||
SNX32_chr11_65828963_65858701 | 65839225 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 25 | 0.0400 | 23 | c.36+ others(38): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SNX4_chr3_125441650_125525202 | 125458814 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 85 | 0.0118 | 23 | c.945 others(40): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 10/13 | chr3 | TogoVar | |||||||
SNX6_chr14_34556093_34635148 | 34578937 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0131 | 1 | 40 | 0.0250 | 23 | c.834 others(40): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 10/13 | chr14 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763441 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 312 | 0.0032 | 23 | c.*33 others(34): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2942 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | AAATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 234 | 0.0043 | 23 | c.*33 others(34): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 HG04199.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0363 |
3 | 236 | 0.0127 | 23 | c.*33 others(34): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
SNX8_chr7_2246770_2319441 | 2252695 | C | CCACCCCT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG02615.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0008a0002c0004t0008 | a0001c0001t0008g0001 a0001c0001t0008g0002 a0001c0001t0008g0050 others(7): Show |
12 | 368 | 0.0326 | 23 | c.*23 others(34): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 11/11 | 2360 | chr7 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157826849 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0061 | 1 | 114 | 0.0088 | 23 | c.12+ others(38): 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(16): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0044 | 1 | 223 | 0.0045 | 23 | c.12+ others(40): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157915640 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0009 | a0001c0009t0006 | a0001c0009t0006g0061 | 1 | 191 | 0.0052 | 23 | c.949 others(40): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179351721 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01070.hp1 HG01071.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0011a0001c0004t0017a0001c0004t0064 | a0001c0004t0011g0231 a0001c0004t0011g0245 a0001c0004t0017g0081 others(2): Show |
5 | 42 | 0.1190 | 23 | c.159 others(40): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SOCS4_chr14_55022236_55054489 | 55041783 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 47 | 0.0213 | 23 | c.-90 others(40): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SOGA1_chr20_36772447_36868538 | 36868200 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02647.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021a0001c0001t0022 | a0001c0001t0006g0003 a0001c0001t0021g0006 a0001c0001t0022g0007 |
3 | 175 | 0.0171 | 23 | c.-48 others(34): Show |
SOGA1 | ENSG00000149639.15 | transcript | ENST00000237536.9 | protein_coding | 4663 | chr20 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36184460 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01257.hp2 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0002a0002c0002t0001 | a0001c0001t0001g0028 a0001c0001t0001g0305 a0001c0004t0002g0127 others(2): Show |
6 | 58 | 0.1034 | 23 | c.641 others(40): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SOHLH2_chr13_36163217_36219556 | 36196163 | T | TCACTCAG others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01516.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0037 others(16): Show |
26 | 418 | 0.0622 | 23 | c.264 others(40): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 2/10 | chr13 | TogoVar | |||||||
SON_chr21_33538038_33582481 | 33547596 | A | ATTGAAGT others(16): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 362 | 0.0028 | 23 | c.244 others(40): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SON_chr21_33538038_33582481 | 33580463 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 9 | 0.1111 | 23 | c.*40 others(34): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 2983 | chr21 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95347441 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01928.hp2 HG02145.hp1 others(12): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0002t0001g0114 a0001c0002t0001g0149 a0001c0002t0002g0061 others(12): Show |
15 | 94 | 0.1596 | 23 | c.238 others(40): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 25/32 | chr10 | TogoVar | |||||||
SORBS1_chr10_95306773_95566371 | 95365171 | T | TGTGTGTG others(16): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0272 | 1 | 236 | 0.0042 | 23 | c.195 others(42): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 22/32 | chr10 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185709304 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0265 a0001c0001t0002g0188 |
2 | 146 | 0.0137 | 23 | c.-40 others(42): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
SORBS2_chr4_185580523_185817194 | 185751190 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG00735.hp1 others(10): Show |
a0001 | a0001c0001a0001c0018a0001c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0260 others(10): Show |
13 | 209 | 0.0622 | 23 | c.-96 others(42): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106944871 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0002 | 1 | 72 | 0.0139 | 23 | c.626 others(42): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106970336 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp2 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0020a0001c0003t0001a0001c0004t0007others(4): Show | a0001c0001t0020g0021 a0001c0003t0001g0033 a0001c0004t0007g0046 others(4): Show |
7 | 46 | 0.1522 | 23 | c.559 others(42): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 1/25 | chr10 | TogoVar |