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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2086): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0122 | 1 | 95 | 0.0105 | 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 | a0004c0007t0002g0025 | 1 | 95 | 0.0105 | 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 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0049 | 1 | 47 | 0.0213 | 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 | a0001c0001t0001g0073 | 1 | 146 | 0.0068 | 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 | a0001c0001t0001g0064 | 1 | 40 | 0.0250 | 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 | a0002c0001t0001g0091 | 1 | 2 | 0.5000 | 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 | a0002c0002t0001g0118 | 1 | 15 | 0.0667 | 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 | 438 | 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 | a0001c0001t0001g0239 | 1 | 357 | 0.0028 | 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 | a0010 | a0010c0038 | a0010c0038t0001 | a0010c0038t0001g0244 | 1 | 144 | 0.0069 | 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 | 2 | 0.5000 | 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 | 164 | 0.0061 | 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 | a0001c0002t0004g0051 | 1 | 112 | 0.0089 | 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 | a0007c0016t0001g0143 | 1 | 112 | 0.0089 | 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 | 436 | 0.0023 | 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 | 436 | 0.0023 | 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 | a0001c0001t0001g0046 | 1 | 39 | 0.0256 | 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 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 |
3 | 41 | 0.0732 | 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 | 12 | 0.0833 | 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 | a0004c0004t0006g0015 a0004c0004t0006g0099 |
7 | 276 | 0.0254 | 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 | a0003c0003t0001g0153 | 1 | 15 | 0.0667 | 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 | a0001c0014t0002a0001c0017t0008a0001c0028t0019others(1): Show | a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0017t0008g0066 others(2): Show |
5 | 8 | 0.6250 | 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 | a0001c0007t0030g0018 a0001c0007t0030g0020 |
2 | 194 | 0.0103 | 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(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0057 a0001c0001t0001g0100 a0001c0001t0001g0192 others(24): Show |
27 | 66 | 0.4091 | 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 | a0001c0001t0060 | a0001c0001t0060g0148 | 1 | 40 | 0.0250 | 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 | a0001c0001t0004g0335 a0001c0001t0004g0336 |
2 | 41 | 0.0488 | 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 | a0001c0001t0001g0198 | 1 | 289 | 0.0035 | 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 | a0001c0001t0001g0004 | 2 | 40 | 0.0500 | 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 | a0001c0001t0001g0064 | 1 | 39 | 0.0256 | 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 | a0001c0001t0001g0053 | 1 | 90 | 0.0111 | 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 | 4 | 0.2500 | 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 | a0001c0002t0004g0022 | 1 | 233 | 0.0043 | 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 | a0004c0004t0006g0109 | 1 | 270 | 0.0037 | 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 | a0004c0004t0006g0110 | 1 | 270 | 0.0037 | 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 | a0003c0003t0001g0116 | 1 | 15 | 0.0667 | 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 | 113 | 0.0088 | 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 | 17 | 0.0588 | 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 | a0002c0005t0018 | a0002c0005t0018g0139 | 1 | 17 | 0.0588 | 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 | a0045 | a0045c0102 | a0045c0102t0001 | a0045c0102t0001g0115 | 1 | 32 | 0.0313 | 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 | a0001c0001t0001g0242 | 1 | 217 | 0.0046 | 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 | a0001c0001t0001g0249 | 1 | 284 | 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 | a0001c0001t0003g0103 | 1 | 162 | 0.0062 | 2096 | c.-50 others(2107): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747310 | C | CTGGGGTA others(2089): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0102 | 1 | 301 | 0.0033 | 2096 | c.189 others(2113): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035489 | C | CCTGCTCC others(2090): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 336 | 0.0030 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2090): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0002c0005t0001 | a0001c0001t0005g0279 a0002c0005t0001g0187 |
2 | 41 | 0.0488 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2090): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0321 | 1 | 40 | 0.0250 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCCA others(2090): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0124 | 1 | 40 | 0.0250 | 2097 | c.179 others(2118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2090): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 50 | 0.0200 | 2097 | c.147 others(2114): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132148890 | A | ACCTCGGT others(2090): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 274 | 0.0036 | 2097 | c.-45 others(2108): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4572 | chr12 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947980 | G | GTGGTGGT others(2090): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0015 | 1 | 83 | 0.0120 | 2097 | c.47- others(2114): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |