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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(3089): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 56 | 0.0179 | 3096 | c.209 others(3111): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
TNFRSF6B_chr20_63691652_63703684 | 63693441 | A | ACCACCTC others(3089): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 3096 | c.-33 others(3107): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3210 | chr20 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916027 | C | CGACATGC others(3090): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 NA19240.hp1 |
a0008a0009 | a0008c0008a0009c0007 | a0008c0008t0003a0008c0008t0020a0009c0007t0003 | a0008c0008t0003g0226a0008c0008t0020g0228a0009c0007t0003g0227 | 3 | 274 | 0.0110 | 3097 | c.179 others(3116): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | chr7 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3090): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0045 | 1 | 264 | 0.0038 | 3097 | c.400 others(3116): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
INSYN2B_chr5_169856303_169985495 | 169949681 | T | TGATCTTT others(3090): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 318 | 0.0031 | 3097 | c.-91 others(3118): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063860 | G | GAGGGAAG others(3090): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 1 | 167 | 0.0060 | 3097 | c.*54 others(3108): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2295 | chr13 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3091): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 264 | 0.0038 | 3098 | c.400 others(3117): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716305 | G | GTTGGTGT others(3092): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0141 | 1 | 170 | 0.0059 | 3099 | c.86- others(3112): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3092): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0129 | 1 | 264 | 0.0038 | 3099 | c.400 others(3118): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
WDR72_chr15_53508741_53764663 | 53663901 | T | TAGAAAAA others(3092): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0022 | 1 | 316 | 0.0032 | 3099 | c.196 others(3118): Show |
WDR72 | ENSG00000166415.15 | transcript | ENST00000360509.10 | protein_coding | 14/19 | chr15 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649531 | C | CCCAGCGC others(3093): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 332 | 0.0030 | 3100 | c.112 others(3117): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(3093): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 279 | 0.0036 | 3100 | c.*27 others(3111): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3093): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0026 | 1 | 272 | 0.0037 | 3100 | c.389 others(3119): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
WDR72_chr15_53508741_53764663 | 53663901 | T | TAGAAAAA others(3093): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG01884.hp2 others(18): Show |
a0004a0006a0012others(1): Show | a0004c0004a0004c0023a0006c0009others(2): Show | a0004c0004t0006a0004c0004t0008a0004c0004t0023others(12): Show | a0004c0004t0006g0142a0004c0004t0008g0023a0004c0004t0008g0035others(18): Show | 21 | 316 | 0.0665 | 3100 | c.196 others(3119): Show |
WDR72 | ENSG00000166415.15 | transcript | ENST00000360509.10 | protein_coding | 14/19 | chr15 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3094): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 2 | 431 | 0.0046 | 3101 | c.*85 others(3112): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3094): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 4 | 431 | 0.0093 | 3101 | c.*85 others(3112): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3094): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 274 | 0.0037 | 3101 | c.307 others(3120): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(3095): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0096 | 1 | 390 | 0.0026 | 3102 | c.109 others(3117): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3095): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 1 | 431 | 0.0023 | 3102 | c.*85 others(3113): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(3095): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 2 | 298 | 0.0067 | 3102 | c.126 others(3119): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3095): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 264 | 0.0038 | 3102 | c.400 others(3121): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3095): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0168 | 1 | 264 | 0.0038 | 3102 | c.400 others(3121): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706323 | T | TAGATAGA others(3095): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0006 | a0006c0031 | a0006c0031t0001 | a0006c0031t0001g0052 | 1 | 292 | 0.0034 | 3102 | c.228 others(3119): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706323 | T | TAGATAGA others(3095): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0039 | a0039c0070 | a0039c0070t0013 | a0039c0070t0013g0354 | 1 | 369 | 0.0027 | 3102 | c.-50 others(3113): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4877 | chr4 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1162198 | A | ACCTGTAA others(3095): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0000 | a0000c0014 | a0000c0014t0001 | a0000c0014t0001g0002 | 1 | 203 | 0.0049 | 3102 | c.-12 others(3121): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
TLCD3A_chr17_727596_747968 | 727887 | C | CGGGATAA others(3095): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 396 | 0.0025 | 3102 | c.-47 others(3113): Show |
TLCD3A | ENSG00000167695.15 | transcript | ENST00000308278.13 | protein_coding | 4708 | chr17 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3096): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0222 | 1 | 264 | 0.0038 | 3103 | c.400 others(3122): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3096): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 264 | 0.0038 | 3103 | c.400 others(3122): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(3096): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0009 | a0009c0008 | a0009c0008t0006 | a0009c0008t0006g0218 | 1 | 254 | 0.0039 | 3103 | c.-84 others(3120): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195777311 | A | ACGGCCAT others(3096): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0049 | a0049c0145 | a0049c0145t0008 | a0049c0145t0008g0055 | 1 | 249 | 0.0040 | 3103 | c.129 others(3122): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110701652 | A | ATATTTTA others(3096): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 326 | 0.0031 | 3103 | c.628 others(3120): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(3096): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0127 | 1 | 272 | 0.0037 | 3103 | c.389 others(3122): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(3096): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 130 | 0.0077 | 3103 | c.261 others(3122): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1525660 | C | CCCCCCCA others(3096): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0055 | 2 | 130 | 0.0154 | 3103 | c.261 others(3122): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARFGEF2_chr20_48916711_49041693 | 48961527 | T | TAACTTTT others(3097): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0321 | 1 | 352 | 0.0028 | 3104 | c.839 others(3121): Show |
ARFGEF2 | ENSG00000124198.10 | transcript | ENST00000371917.5 | protein_coding | 6/38 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3097): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 334 | 0.0030 | 3104 | c.147 others(3121): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3097): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0010 | 1 | 431 | 0.0023 | 3104 | c.*85 others(3115): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34704350 | T | TCTATTCC others(3097): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0036 | 1 | 431 | 0.0023 | 3104 | c.*85 others(3115): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4762 | chr14 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169949675 | T | TCAATGTG others(3097): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0044 | a0001c0044t0007 | a0001c0044t0007g0182 | 1 | 184 | 0.0054 | 3104 | c.280 others(3125): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3097): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0239 | 1 | 264 | 0.0038 | 3104 | c.400 others(3123): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IMMP2L_chr7_110657644_111567492 | 111517117 | T | TAAAAAAA others(3097): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 84 | 0.0119 | 3104 | c.135 others(3121): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 2/5 | chr7 | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 111517117 | T | TAAAAAAA others(3097): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 84 | 0.0119 | 3104 | c.135 others(3121): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 2/5 | chr7 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(3097): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0196 | 1 | 318 | 0.0031 | 3104 | c.-91 others(3125): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3097): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 274 | 0.0037 | 3104 | c.307 others(3123): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
LRCH1_chr13_46548170_46749898 | 46584009 | T | TAGAATAA others(3097): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 274 | 0.0037 | 3104 | c.307 others(3123): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 303748 | G | GTGGGGAG others(3097): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0074 | 1 | 133 | 0.0075 | 3104 | c.351 others(3123): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3097): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0134 | 1 | 158 | 0.0063 | 3104 | c.284 others(3123): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
TUBA4B_chr2_219248243_219277197 | 219270701 | C | CCCGTCCC others(3097): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0250 | 1 | 350 | 0.0029 | 3104 | c.192 others(3119): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(3097): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 404 | 0.0025 | 3104 | c.340 others(3121): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945163 | C | CCCCTCCC others(3098): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0120 | 1 | 264 | 0.0038 | 3105 | c.400 others(3124): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |