| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01081.hp2 HG02602.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0043 | a0001c0001t0001g0115 a0001c0001t0004g0066 a0001c0001t0004g0103 others(1): Show |
4 | 196 | 0.0204 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0060 a0001c0001t0004g0064 |
2 | 196 | 0.0102 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RFX3_chr9_3213297_3531001 | 3504671 | C | CATATAAA others(461): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0062 | a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0008g0184 others(1): Show |
4 | 196 | 0.0204 | 468 | c.-9+ others(485): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130646118 | A | ACCACCTC others(461): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0018 | a0018c0048 | a0018c0048t0001 | a0018c0048t0001g0013 | 1 | 180 | 0.0056 | 468 | c.-35 others(489): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RIMBP2_chr12_130391133_130721299 | 130646291 | C | CTCCCTCT others(461): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 180 | 0.0056 | 468 | c.-35 others(489): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
| RNF213_chr17_80255852_80403794 | 80274697 | G | GTGAGTGG others(461): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0013 | a0013c0020 | a0013c0020t0003 | a0013c0020t0003g0002 | 1 | 292 | 0.0034 | 468 | c.261 others(485): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 3/67 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 340698 | G | GCCCAGGC others(461): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 133 | 0.0075 | 468 | c.-21 others(487): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 340698 | G | GCCCAGGC others(461): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 133 | 0.0075 | 468 | c.-21 others(487): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 1/9 | chr17 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 356598 | T | TCACAGTC others(461): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 133 | 0.0075 | 468 | c.-41 others(479): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3792 | chr17 | TogoVar | |||||||
| RPTOR_chr17_80539838_80971368 | 80743821 | C | CCCTGGTT others(461): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0125 | 1 | 196 | 0.0051 | 468 | c.655 others(487): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80743827 | C | CTACTAGC others(461): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0011 | a0001c0011t0029 | a0001c0011t0029g0196 | 1 | 196 | 0.0051 | 468 | c.655 others(487): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80744241 | T | TTACTAGC others(461): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0032 | a0001c0032t0033 | a0001c0032t0033g0039 | 1 | 196 | 0.0051 | 468 | c.655 others(485): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80744259 | C | CTACTAGC others(461): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0009 | a0001c0009t0028 | a0001c0009t0028g0113 | 1 | 196 | 0.0051 | 468 | c.655 others(485): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80744677 | T | TAGCACTG others(461): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0027 | 1 | 196 | 0.0051 | 468 | c.655 others(485): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80744785 | T | TAGCACAG others(461): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0064 | 1 | 196 | 0.0051 | 468 | c.655 others(485): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3178012 | A | ATCGGGCT others(461): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 NA20752.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 2 | 418 | 0.0048 | 468 | c.-78 others(477): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 756 | chr19 | TogoVar | |||||||
| SART1_chr11_65956734_65985137 | 65971088 | A | AGCTGAGG others(461): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18980.hp1 NA19077.hp1 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0011 a0002c0001t0001g0135 a0002c0001t0001g0136 |
4 | 384 | 0.0104 | 468 | c.157 others(487): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SART1_chr11_65956734_65985137 | 65971332 | T | TGCTGAGG others(461): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0135 | 1 | 384 | 0.0026 | 468 | c.157 others(487): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1166026 | C | CCAGATCT others(461): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG01074.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0002t0001g0066 others(20): Show |
23 | 203 | 0.1133 | 468 | c.-12 others(487): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
| SBNO2_chr19_1102638_1179268 | 1166026 | C | CCAGATCT others(461): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0041 | a0001c0041t0001 | a0001c0041t0001g0153 | 1 | 203 | 0.0049 | 468 | c.-12 others(487): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31431953 | G | GTGGACAG others(461): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0050 | 1 | 376 | 0.0027 | 468 | c.101 others(487): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431975 | A | ATAGGGTG others(461): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0280 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431976 | T | TAGGGTGG others(461): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0166 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431984 | A | ACAGGGTG others(461): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0013 | a0013c0012 | a0013c0012t0002 | a0013c0012t0002g0117 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432030 | C | CAGGGTGG others(461): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0235 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432101 | A | ATAGGGTG others(461): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0119 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432120 | T | TAGGGTGG others(461): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0121 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(461): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0180 | 1 | 376 | 0.0027 | 468 | c.101 others(485): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCCCC others(461): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0067 | 1 | 118 | 0.0085 | 468 | c.224 others(485): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| SLC24A3_chr20_19207642_19727926 | 19663437 | C | CTCCTCCA others(461): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0140 | 1 | 160 | 0.0063 | 468 | c.688 others(485): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SLC45A1_chr1_8313114_8349165 | 8322288 | A | ATGAATGG others(461): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 388 | 0.0026 | 468 | c.-24 others(485): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC45A1_chr1_8313114_8349165 | 8322288 | A | ATGAATGG others(461): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0167 | 1 | 388 | 0.0026 | 468 | c.-24 others(485): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC45A1_chr1_8313114_8349165 | 8322288 | A | ATGAATGG others(461): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03130.hp2 NA18964.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0162 others(1): Show |
4 | 388 | 0.0103 | 468 | c.-24 others(485): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SLC45A4_chr8_141202174_141313288 | 141203207 | G | GGGAGAGG others(461): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 1 | 188 | 0.0053 | 468 | c.*83 others(479): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3966 | chr8 | TogoVar | |||||||
| SLC45A4_chr8_141202174_141313288 | 141252540 | C | CGTTTGTG others(461): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03486.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0034a0001c0006t0031 | a0001c0004t0034g0032 a0001c0006t0031g0083 |
2 | 188 | 0.0106 | 468 | c.241 others(485): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168560870 | G | GAGGCTTT others(461): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0004 | a0004c0012 | a0004c0012t0010 | a0004c0012t0010g0076 | 1 | 180 | 0.0056 | 468 | c.637 others(487): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168561144 | G | GTTCTTGG others(461): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 180 | 0.0056 | 468 | c.637 others(487): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168562033 | T | TGGAGGAG others(461): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0096 a0001c0002t0002g0017 |
2 | 180 | 0.0111 | 468 | c.637 others(487): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168562158 | G | GCCCTGAG others(461): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 180 | 0.0056 | 468 | c.637 others(487): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(461): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0021 | a0021c0027 | a0021c0027t0001 | a0021c0027t0001g0127 | 1 | 190 | 0.0053 | 468 | c.72+ others(485): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(461): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01256.hp2 |
a0002a0003 | a0002c0003a0003c0008 | a0002c0003t0001a0003c0008t0001 | a0002c0003t0001g0129 a0003c0008t0001g0130 |
2 | 190 | 0.0105 | 468 | c.72+ others(485): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SNX9_chr6_157818246_157950077 | 157827118 | T | TATATTAT others(461): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 302 | 0.0033 | 468 | c.12+ others(483): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4462498 | C | CACCCACC others(461): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308 | 1 | 362 | 0.0028 | 468 | c.111 others(487): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4462498 | C | CACCCACC others(461): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232 | 1 | 362 | 0.0028 | 468 | c.111 others(487): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4462498 | C | CACCCACC others(461): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19007.hp2 NA19060.hp2 |
a0001 | a0001c0003a0001c0009a0001c0024 | a0001c0003t0001a0001c0009t0002a0001c0024t0003 | a0001c0003t0001g0154 a0001c0009t0002g0076 a0001c0024t0003g0062 |
3 | 362 | 0.0083 | 468 | c.111 others(487): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SPNS3_chr17_4428940_4493204 | 4462502 | C | CACCCACC others(461): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0003t0002g0141 |
3 | 362 | 0.0083 | 468 | c.111 others(487): Show |
SPNS3 | ENSG00000182557.8 | transcript | ENST00000355530.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642100 | T | TGGGGGGG others(461): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0072 | 1 | 422 | 0.0024 | 468 | c.*66 others(479): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4514 | chr20 | TogoVar | |||||||
| ST3GAL3_chr1_43702536_43936159 | 43905595 | C | CGCCACTT others(461): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 274 | 0.0037 | 468 | c.744 others(485): Show |
ST3GAL3 | ENSG00000126091.21 | transcript | ENST00000347631.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TBC1D22A_chr22_46757650_47180693 | 46772244 | T | TACACATA others(461): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 112 | 0.0089 | 468 | c.62+ others(483): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TCF3_chr19_1604292_1657615 | 1628013 | A | ACGGGGGT others(461): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0284 | 1 | 352 | 0.0028 | 468 | c.299 others(483): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar |