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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2466): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 301 | 0.0033 | 2473 | c.-11 others(2484): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130392857 | T | TGTCCGTC others(2466): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0042 | a0003c0042t0003 | a0003c0042t0003g0068 | 1 | 180 | 0.0056 | 2473 | c.*45 others(2484): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3275 | chr12 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2466): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0095 | 1 | 445 | 0.0023 | 2473 | c.-15 others(2484): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2466): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 HG04204.hp1 |
a0002a0012 | a0002c0002a0012c0021 | a0002c0002t0001a0012c0021t0001 | a0002c0002t0001g0033 a0012c0021t0001g0009 |
2 | 445 | 0.0045 | 2473 | c.-15 others(2484): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2466): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0002 | 1 | 431 | 0.0023 | 2473 | c.*37 others(2484): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2466): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 HG04204.hp2 |
a0003 | a0003c0005a0003c0034 | a0003c0005t0003a0003c0034t0003 | a0003c0005t0003g0002 a0003c0034t0003g0002 |
2 | 431 | 0.0046 | 2473 | c.*37 others(2484): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2467): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 390 | 0.0026 | 2474 | c.68- others(2489): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(2467): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 375 | 0.0027 | 2474 | c.-19 others(2485): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2468): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18960.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0021 | 2 | 390 | 0.0051 | 2475 | c.109 others(2490): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2468): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 290 | 0.0035 | 2475 | c.-95 others(2494): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2468): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0120 | 1 | 290 | 0.0035 | 2475 | c.-95 others(2494): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2468): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 301 | 0.0033 | 2475 | c.-11 others(2486): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2468): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0016 | a0016c0014 | a0016c0014t0001 | a0016c0014t0001g0036 | 1 | 292 | 0.0034 | 2475 | c.218 others(2490): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195777793 | A | ACCCATAC others(2468): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0096 | a0096c0199 | a0096c0199t0009 | a0096c0199t0009g0243 | 1 | 249 | 0.0040 | 2475 | c.129 others(2494): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397547 | A | AGGGGGCC others(2468): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0128 | 1 | 340 | 0.0029 | 2475 | c.227 others(2492): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2468): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0016 | a0001c0016t0002 | a0001c0016t0002g0103 | 1 | 376 | 0.0027 | 2475 | c.101 others(2492): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2468): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 272 | 0.0037 | 2475 | c.389 others(2494): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ANO3_chr11_26327130_26668289 | 26588725 | A | AAAAACCT others(2469): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0021 | a0001c0003t0002g0003 a0001c0003t0021g0007 |
2 | 190 | 0.0105 | 2476 | c.144 others(2495): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045896 | C | CTCCTCCA others(2469): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0014 | a0014c0027 | a0014c0027t0003 | a0014c0027t0003g0074 | 1 | 390 | 0.0026 | 2476 | c.109 others(2491): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(2469): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0021 | a0006c0021t0005 | a0006c0021t0005g0148 | 1 | 174 | 0.0058 | 2476 | c.193 others(2495): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2469): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 1 | 116 | 0.0086 | 2476 | c.522 others(2493): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2469): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0051 | 1 | 116 | 0.0086 | 2476 | c.522 others(2493): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2469): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 116 | 0.0086 | 2476 | c.522 others(2493): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCTTTT others(2469): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0168 | 1 | 264 | 0.0038 | 2476 | c.742 others(2493): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
TATDN3_chr1_212786894_212821830 | 212801296 | T | TGTAAATA others(2469): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04199.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0233 a0001c0003t0005g0234 a0001c0003t0005g0236 |
3 | 390 | 0.0077 | 2476 | c.259 others(2493): Show |
TATDN3 | ENSG00000203705.11 | transcript | ENST00000366974.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(2469): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 356 | 0.0028 | 2476 | c.114 others(2493): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95679150 | G | GTGAGTCC others(2470): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 374 | 0.0027 | 2477 | c.82+ others(2492): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2470): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 68 | 0.0147 | 2477 | c.61+ others(2496): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2470): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0019 | 1 | 158 | 0.0063 | 2477 | c.226 others(2496): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(2470): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0218 |
3 | 356 | 0.0084 | 2477 | c.114 others(2494): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111331 | C | CACCTGCC others(2471): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0287 | 1 | 368 | 0.0027 | 2478 | c.401 others(2495): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111641 | A | ACACCTCC others(2471): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0036 | 1 | 368 | 0.0027 | 2478 | c.401 others(2495): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112038 | T | TCCAGACC others(2471): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 368 | 0.0027 | 2478 | c.401 others(2495): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2471): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02165.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0138 a0001c0002t0003g0148 a0001c0002t0003g0197 others(1): Show |
4 | 268 | 0.0149 | 2478 | c.137 others(2495): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2471): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0268 | 1 | 268 | 0.0037 | 2478 | c.137 others(2495): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2471): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0012 | a0002c0012t0003 | a0002c0012t0003g0139 | 1 | 268 | 0.0037 | 2478 | c.137 others(2495): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647649 | G | GACCCAGT others(2471): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 392 | 0.0026 | 2478 | c.253 others(2493): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(2471): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0006 | 1 | 88 | 0.0114 | 2478 | c.158 others(2495): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAJC3_chr13_95672139_95799988 | 95679150 | G | GTGAGTCC others(2471): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 others(3): Show |
6 | 374 | 0.0160 | 2478 | c.82+ others(2493): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706325 | G | GATAGATA others(2471): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0300 | 1 | 369 | 0.0027 | 2478 | c.-50 others(2489): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4875 | chr4 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(2471): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0012 | a0006c0012t0006 | a0006c0012t0006g0099 | 1 | 290 | 0.0035 | 2478 | c.129 others(2495): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2471): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0039 | a0039c0030 | a0039c0030t0007 | a0039c0030t0007g0096 | 1 | 292 | 0.0034 | 2478 | c.218 others(2493): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811199 | C | CTCCCTTC others(2471): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 178 | 0.0056 | 2478 | c.773 others(2493): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2471): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016 | a0001c0001t0005g0095 a0001c0001t0016g0049 |
2 | 158 | 0.0127 | 2478 | c.226 others(2497): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2471): Show |
intron_variant | MODIFIER | HG01243.hp1 HG04184.hp2 NA18945.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017 | a0001c0001t0001g0086 a0001c0001t0003g0127 a0001c0001t0017g0083 |
3 | 158 | 0.0190 | 2478 | c.226 others(2497): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2471): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 158 | 0.0063 | 2478 | c.226 others(2497): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46342557 | A | AAAAGAAA others(2471): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19030.hp1 NA19240.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009 | a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0006g0008 others(1): Show |
4 | 158 | 0.0253 | 2478 | c.226 others(2497): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111297 | C | CACCACAG others(2472): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0243 | 1 | 368 | 0.0027 | 2479 | c.401 others(2496): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2472): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 432 | 0.0023 | 2479 | c.103 others(2496): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2472): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 298 | 0.0034 | 2479 | c.126 others(2496): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |