regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTB1_chr8_120530756_120817046 | 120654039 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 HG03492.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0004 | a0001c0001t0002g0047a0001c0001t0002g0129a0001c0001t0008g0074others(1): Show | 4 | 254 | 0.0158 | 21 | c.789 others(40): Show |
SNTB1 | ENSG00000172164.15 | transcript | ENST00000517992.2 | protein_coding | 2/6 | chr8 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69199595 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0008 | a0001c0001t0006g0049a0001c0001t0006g0057a0001c0001t0006g0058others(2): Show | 5 | 218 | 0.0229 | 21 | c.580 others(40): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50115567 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 106 | 0.0094 | 21 | c.-10 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50115576 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG02145.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0086a0001c0001t0004g0094a0001c0001t0008g0061others(14): Show | 17 | 106 | 0.1604 | 21 | c.-10 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50115576 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0088 | 1 | 106 | 0.0094 | 21 | c.-10 others(42): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG1_chr8_49906407_50801692 | 50422270 | A | ATCTATCT others(14): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03491.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001 | a0001c0001t0009g0100a0001c0001t0009g0101a0001c0002t0001g0082 | 3 | 106 | 0.0283 | 21 | c.163 others(40): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 4/18 | chr8 | TogoVar | ||||||
SNTG1_chr8_49906407_50801692 | 50701579 | T | TTTCTTCT others(14): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02809.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0004g0102a0001c0001t0005g0022a0001c0001t0005g0024others(4): Show | 7 | 106 | 0.0660 | 21 | c.103 others(40): Show |
SNTG1 | ENSG00000147481.17 | transcript | ENST00000642720.2 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1031528 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02258.hp1 HG02976.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0078a0004c0004t0001g0047a0004c0004t0001g0088 | 3 | 190 | 0.0158 | 21 | c.73- others(38): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1051157 | T | TCCCCCTT others(14): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02602.hp2 HG04115.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0029a0001c0002t0001g0172a0002c0005t0001g0032 | 3 | 190 | 0.0158 | 21 | c.73- others(38): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1278920 | A | ACGCGAAT others(14): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01192.hp1 others(16): Show |
a0001a0003a0005others(6): Show | a0001c0001a0003c0007a0003c0008others(7): Show | a0001c0001t0001a0003c0007t0001a0003c0008t0001others(7): Show | a0001c0001t0001g0035a0003c0007t0001g0018a0003c0007t0001g0068others(16): Show | 19 | 190 | 0.1000 | 21 | c.128 others(42): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26358806 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0221 | 1 | 390 | 0.0026 | 21 | c.25- others(36): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26358806 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0346a0001c0001t0008g0205 | 2 | 390 | 0.0051 | 21 | c.25- others(36): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX10_chr7_26286862_26379383 | 26358806 | T | TTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00741.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(1): Show | a0001c0001t0001g0235a0001c0001t0002g0002a0001c0001t0002g0004others(19): Show | 24 | 390 | 0.0615 | 21 | c.25- others(36): Show |
SNX10 | ENSG00000086300.17 | transcript | ENST00000338523.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
SNX13_chr7_17785761_17945494 | 17805254 | T | TGCGCGCG others(14): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 338 | 0.0030 | 21 | c.206 others(40): Show |
SNX13 | ENSG00000071189.21 | transcript | ENST00000428135.7 | protein_coding | 20/25 | chr7 | TogoVar | ||||||
SNX15_chr11_65022439_65045572 | 65025779 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01934.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0132 | 6 | 338 | 0.0178 | 21 | c.-17 others(32): Show |
SNX15 | ENSG00000110025.13 | transcript | ENST00000377244.8 | protein_coding | 1659 | chr11 | TogoVar | ||||||
SNX15_chr11_65022439_65045572 | 65039029 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03195.hp2 HG03225.hp2 others(2): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0004a0001c0002t0002a0007c0009t0004 | a0001c0001t0004g0144a0001c0001t0004g0148a0001c0002t0002g0111others(2): Show | 5 | 338 | 0.0148 | 21 | c.922 others(36): Show |
SNX15 | ENSG00000110025.13 | transcript | ENST00000377244.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SNX18_chr5_54512759_54551586 | 54513823 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00609.hp1 others(105): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0035a0001c0001t0001g0068a0001c0001t0001g0078others(65): Show | 108 | 390 | 0.2769 | 21 | c.-41 others(32): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3935 | chr5 | TogoVar | ||||||
SNX1_chr15_64090982_64149231 | 64140983 | T | TAGATAGA others(14): Show |
3_prime_UTR_variant | MODIFIER | HG03579.hp2 NA18939.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0048a0001c0002t0081 | a0001c0001t0048g0148a0001c0002t0081g0095 | 2 | 270 | 0.0074 | 21 | c.*33 others(32): Show |
SNX1 | ENSG00000028528.15 | transcript | ENST00000559844.6 | protein_coding | 15/15 | 3366 | chr15 | TogoVar | |||||
SNX25_chr4_185204598_185368966 | 185212491 | G | GTGTGTGT others(14): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 276 | 0.0036 | 21 | c.429 others(38): Show |
SNX25 | ENSG00000109762.17 | transcript | ENST00000652585.2 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151681235 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02738.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0104a0001c0001t0123a0001c0001t0127others(1): Show | a0001c0001t0104g0081a0001c0001t0123g0339a0001c0001t0127g0084others(1): Show | 4 | 366 | 0.0109 | 21 | c.115 others(40): 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(14): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0008 | a0008c0019 | a0008c0019t0019 | a0008c0019t0019g0067 | 1 | 176 | 0.0057 | 21 | c.7+2 others(34): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12118313 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 | 1 | 176 | 0.0057 | 21 | c.140 others(40): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12339370 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0059 | 1 | 176 | 0.0057 | 21 | c.178 others(42): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX29_chr16_11971734_12579287 | 12461974 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 176 | 0.0057 | 21 | c.203 others(42): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 18/20 | chr16 | TogoVar | ||||||
SNX29_chr16_11971734_12579287 | 12483114 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0171 | 1 | 176 | 0.0057 | 21 | c.217 others(40): Show |
SNX29 | ENSG00000048471.14 | transcript | ENST00000566228.6 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SNX31_chr8_100567889_100654665 | 100641565 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0167 | 1 | 304 | 0.0033 | 21 | c.142 others(38): Show |
SNX31 | ENSG00000174226.9 | transcript | ENST00000311812.7 | protein_coding | 2/13 | chr8 | TogoVar | ||||||
SNX32_chr11_65828963_65858701 | 65832656 | C | CCAGCTTC others(14): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(255): Show | 369 | 390 | 0.9462 | 21 | c.-14 others(32): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1306 | chr11 | TogoVar | ||||||
SNX32_chr11_65828963_65858701 | 65839223 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02056.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0090 | 2 | 390 | 0.0051 | 21 | c.36+ others(36): 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(14): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 390 | 0.0026 | 21 | c.36+ others(36): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SNX33_chr15_75642912_75667301 | 75656158 | T | TGAAGAGT others(14): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0080 | 1 | 420 | 0.0024 | 21 | c.147 others(38): Show |
SNX33 | ENSG00000173548.9 | transcript | ENST00000308527.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SNX4_chr3_125441650_125525202 | 125458814 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 360 | 0.0028 | 21 | c.945 others(38): Show |
SNX4 | ENSG00000114520.11 | transcript | ENST00000251775.9 | protein_coding | 10/13 | chr3 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34557496 | A | ATTCTTCT others(14): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0039 | 1 | 322 | 0.0031 | 21 | c.*56 others(32): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 3596 | chr14 | TogoVar | ||||||
SNX6_chr14_34556093_34635148 | 34578937 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078a0001c0002t0002g0084 | 2 | 322 | 0.0062 | 21 | c.834 others(38): Show |
SNX6 | ENSG00000129515.20 | transcript | ENST00000362031.10 | protein_coding | 10/13 | chr14 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98763439 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 378 | 0.0027 | 21 | c.*33 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2940 | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98763441 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG03486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0090a0001c0001t0001g0092others(5): Show | 8 | 378 | 0.0212 | 21 | c.*33 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2942 | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | AAAAATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0170 | 2 | 378 | 0.0053 | 21 | c.*33 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | AAATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 NA18965.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0095a0001c0001t0001g0097 | 3 | 378 | 0.0079 | 21 | c.*33 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98763443 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG02004.hp1 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0101a0001c0001t0001g0106 | 3 | 378 | 0.0079 | 21 | c.*33 others(32): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 2944 | chr1 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157840420 | T | TTTCTTTC others(14): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02451.hp2 HG02572.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0135a0001c0001t0001g0136a0001c0001t0001g0137others(5): Show | 8 | 302 | 0.0265 | 21 | c.12+ others(38): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SOAT1_chr1_179288797_179363680 | 179351721 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03209.hp1 |
a0003a0004 | a0003c0020a0004c0010 | a0003c0020t0030a0004c0010t0022 | a0003c0020t0030g0022a0004c0010t0022g0364 | 2 | 382 | 0.0052 | 21 | c.159 others(38): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SOAT1_chr1_179288797_179363680 | 179360226 | T | TCTTAACG others(14): Show |
downstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 382 | 0.0026 | 21 | c.*65 others(32): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 1547 | chr1 | TogoVar | ||||||
SOCS4_chr14_55022236_55054489 | 55041783 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02818.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057a0001c0001t0002g0161 | 3 | 394 | 0.0076 | 21 | c.-90 others(38): Show |
SOCS4 | ENSG00000180008.9 | transcript | ENST00000555846.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SOCS6_chr18_70284045_70335199 | 70324302 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0043a0001c0001t0002g0138a0001c0001t0002g0257others(2): Show | 5 | 358 | 0.0140 | 21 | c.-12 others(38): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SOHLH2_chr13_36163217_36219556 | 36184460 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG02970.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0182a0001c0003t0001g0033a0001c0003t0001g0221others(4): Show | 8 | 420 | 0.0191 | 21 | c.641 others(38): Show |
SOHLH2 | ENSG00000120669.16 | transcript | ENST00000379881.8 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
SON_chr21_33538038_33582481 | 33555090 | A | AAGCCGCC others(14): Show |
disruptive_inframe_insertion | MODERATE | HG02071.hp1 HG03195.hp2 NA18998.hp2 others(1): Show |
a0008 | a0008c0013a0008c0018a0008c0024 | a0008c0013t0001a0008c0018t0001a0008c0024t0001 | a0008c0013t0001g0056a0008c0013t0001g0079a0008c0018t0001g0002others(1): Show | 4 | 364 | 0.0110 | 21 | c.593 others(30): Show |
p.Arg others(36): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 3/12 | 6007/8393 | 5952/7281 | 1984/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SORBS1_chr10_95306773_95566371 | 95365218 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 300 | 0.0033 | 21 | c.195 others(40): Show |
SORBS1 | ENSG00000095637.23 | transcript | ENST00000371247.7 | protein_coding | 22/32 | chr10 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185709304 | C | CCTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01928.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0072a0001c0001t0001g0229a0001c0001t0001g0250others(7): Show | 10 | 312 | 0.0321 | 21 | c.-40 others(40): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185709304 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG03540.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0034others(2): Show | a0001c0001t0001g0216a0001c0002t0003g0174a0001c0002t0034g0004others(2): Show | 5 | 312 | 0.0160 | 21 | c.-40 others(40): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 3/26 | chr4 | TogoVar | ||||||
SORBS2_chr4_185580523_185817194 | 185751190 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0066a0001c0001t0001g0067a0001c0001t0003g0242others(21): Show | 24 | 312 | 0.0769 | 21 | c.-96 others(40): Show |
SORBS2 | ENSG00000154556.20 | transcript | ENST00000695409.1 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
SORCS1_chr10_106568663_107169706 | 106891504 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0088 | 1 | 130 | 0.0077 | 21 | c.627 others(40): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar |