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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC27_chr10_132327193_132386508 | 132364519 | G | GCACTTAC others(2085): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0205 | 1 | 290 | 0.0035 | 2092 | c.129 others(2109): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2085): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0049 | a0049c0064 | a0049c0064t0028 | a0049c0064t0028g0161 | 1 | 234 | 0.0043 | 2092 | c.816 others(2109): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2086): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0049 | 1 | 337 | 0.0030 | 2093 | c.179 others(2114): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2086): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0016 | a0016c0047 | a0016c0047t0001 | a0016c0047t0001g0035 | 1 | 104 | 0.0096 | 2093 | c.354 others(2112): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2086): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0019 | a0003c0019t0002 | a0003c0019t0002g0158 | 1 | 170 | 0.0059 | 2093 | c.101 others(2112): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(2086): Show |
splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0009 | a0009c0011 | a0009c0011t0004 | a0009c0011t0004g0054 | 1 | 308 | 0.0033 | 2093 | c.157 others(2106): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(2086): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0285 | 1 | 308 | 0.0033 | 2093 | c.157 others(2108): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2086): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 390 | 0.0026 | 2093 | c.972 others(2106): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2086): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0121 | 1 | 158 | 0.0063 | 2093 | c.*11 others(2114): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2086): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0026 | 1 | 158 | 0.0063 | 2093 | c.*11 others(2114): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871889 | A | AGACGGGA others(2086): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0048 | 1 | 56 | 0.0179 | 2093 | c.209 others(2108): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2086): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 356 | 0.0028 | 2093 | c.114 others(2110): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2087): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 337 | 0.0030 | 2094 | c.179 others(2115): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2087): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0090 | 1 | 298 | 0.0034 | 2094 | c.126 others(2111): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(2087): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 400 | 0.0025 | 2094 | c.-5+ others(2107): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ICAM3_chr19_10328776_10344624 | 10344095 | C | CACAGGCG others(2087): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG03710.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 2 | 440 | 0.0046 | 2094 | c.-44 others(2105): Show |
ICAM3 | ENSG00000076662.11 | transcript | ENST00000160262.10 | protein_coding | 4472 | chr19 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGCGG others(2087): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 375 | 0.0027 | 2094 | c.-20 others(2105): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953985 | A | ACACGGAC others(2087): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0038 | a0011c0038t0001 | a0011c0038t0001g0245 | 1 | 294 | 0.0034 | 2094 | c.503 others(2109): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(2087): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0139 | 1 | 326 | 0.0031 | 2094 | c.162 others(2113): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223101 | G | GACCGCTG others(2087): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 190 | 0.0053 | 2094 | c.719 others(2113): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2087): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0053 | 1 | 190 | 0.0053 | 2094 | c.719 others(2113): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2087): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0007 | a0007c0016 | a0007c0016t0001 | a0007c0016t0001g0135 | 1 | 190 | 0.0053 | 2094 | c.719 others(2113): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2087): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 448 | 0.0022 | 2094 | c.*63 others(2103): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2087): Show |
downstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 448 | 0.0022 | 2094 | c.*63 others(2103): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2088): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 91 | 0.0110 | 2095 | c.177 others(2114): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2088): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18948.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0041 | 3 | 91 | 0.0330 | 2095 | c.177 others(2114): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(2088): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 2095 | c.*28 others(2106): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2088): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02155.hp1 HG02683.hp1 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0014a0004c0004t0006g0120 | 7 | 400 | 0.0175 | 2095 | c.-5+ others(2108): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(2088): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0190 | 1 | 400 | 0.0025 | 2095 | c.-5+ others(2108): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2088): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(2): Show |
a0001 | a0001c0014a0001c0017a0001c0028others(1): Show | a0001c0014t0002a0001c0017t0005a0001c0028t0019others(1): Show | a0001c0014t0002g0032a0001c0014t0002g0033a0001c0017t0005g0067others(2): Show | 5 | 196 | 0.0255 | 2095 | c.291 others(2114): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80930457 | C | CCTCAGCT others(2088): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02897.hp1 |
a0001 | a0001c0007 | a0001c0007t0030 | a0001c0007t0030g0018a0001c0007t0030g0020 | 2 | 196 | 0.0102 | 2095 | c.291 others(2114): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2089): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01071.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0058a0001c0001t0001g0087a0001c0001t0001g0101others(25): Show | 28 | 337 | 0.0831 | 2096 | c.179 others(2117): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2089): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0149 | 1 | 337 | 0.0030 | 2096 | c.179 others(2117): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2089): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0334a0001c0001t0004g0335 | 2 | 337 | 0.0059 | 2096 | c.179 others(2117): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290182 | T | TCCCGTGT others(2089): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 295 | 0.0034 | 2096 | c.*33 others(2107): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2208 | chr1 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2089): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0065 | 2 | 91 | 0.0220 | 2096 | c.177 others(2115): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2089): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 91 | 0.0110 | 2096 | c.177 others(2115): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650679 | T | TGACTGTG others(2089): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 91 | 0.0110 | 2096 | c.177 others(2115): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2089): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 390 | 0.0026 | 2096 | c.972 others(2109): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLIS2_chr16_4311067_4344595 | 4344551 | C | CGTGAGAG others(2089): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0020 | 1 | 395 | 0.0025 | 2096 | c.*70 others(2107): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4957 | chr16 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2089): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0131 | 1 | 400 | 0.0025 | 2096 | c.-5+ others(2109): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2089): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0132 | 1 | 400 | 0.0025 | 2096 | c.-5+ others(2109): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(2089): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 400 | 0.0025 | 2096 | c.-5+ others(2109): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1374068 | G | GGGACACA others(2089): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 115 | 0.0087 | 2096 | c.875 others(2113): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2089): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0082 | 1 | 158 | 0.0063 | 2096 | c.*11 others(2117): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(2089): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0005 | a0002c0005t0019 | a0002c0005t0019g0138 | 1 | 158 | 0.0063 | 2096 | c.*11 others(2117): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2089): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0055 | a0055c0102 | a0055c0102t0001 | a0055c0102t0001g0115 | 1 | 292 | 0.0034 | 2096 | c.218 others(2111): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344551 | C | CGTGAGAG others(2089): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 367 | 0.0027 | 2096 | c.4-1 others(2109): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1290182 | T | TCCCGTGT others(2089): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 290 | 0.0035 | 2096 | c.166 others(2111): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2089): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 186 | 0.0054 | 2096 | c.-50 others(2107): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar |