| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHRR_chr5_316714_443285 | 415614 | C | CGGGAGGC others(231): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0019 | a0002c0019t0001 | a0002c0019t0001g0134 | 1 | 268 | 0.0037 | 238 | c.441 others(255): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 415648 | C | CGGGAGGC others(231): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0009 | a0001c0009t0055 | a0001c0009t0055g0104 | 1 | 268 | 0.0037 | 238 | c.441 others(255): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| APOA4_chr11_116815700_116828304 | 116818426 | A | ATATATAT others(231): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 462 | 0.0065 | 238 | c.*24 others(249): Show |
APOA4 | ENSG00000110244.7 | transcript | ENST00000357780.5 | protein_coding | 2273 | chr11 | TogoVar | ||||||
| ARHGDIG_chr16_275591_288010 | 285983 | T | TCCCAACC others(231): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 442 | 0.0045 | 238 | c.*31 others(249): Show |
ARHGDIG | ENSG00000242173.10 | transcript | ENST00000219409.8 | protein_coding | 2974 | chr16 | TogoVar | ||||||
| ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(231): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 264 | 0.0038 | 238 | c.102 others(255): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ARL13B_chr3_93975155_94060678 | 94043545 | C | CCTCCCCC others(231): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 264 | 0.0038 | 238 | c.102 others(255): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ARL13B_chr3_93975155_94060678 | 94043553 | T | TCCCCTCC others(231): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0057 | 1 | 264 | 0.0038 | 238 | c.102 others(255): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(231): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 264 | 0.0038 | 238 | c.102 others(255): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105825614 | A | AAGCATGT others(231): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 252 | 0.0040 | 238 | c.251 others(257): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 2/11 | chr7 | TogoVar | ||||||
| AUTS2_chr7_69593475_70798506 | 70495848 | T | TACACAGT others(231): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03453.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0030a0001c0001t0004g0054a0001c0001t0018g0003 | 3 | 76 | 0.0395 | 238 | c.690 others(257): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AXIN1_chr16_282440_357723 | 285983 | T | TCCCAACC others(231): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0008 | a0003c0008t0007 | a0003c0008t0007g0274 | 1 | 378 | 0.0027 | 238 | c.*21 others(249): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1456 | chr16 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83025242 | G | GGAGTCCA others(231): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0010 | a0002c0010t0007 | a0002c0010t0007g0222 | 1 | 266 | 0.0038 | 238 | c.297 others(255): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 545902 | T | TGAGAGGA others(231): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0380 | 1 | 394 | 0.0025 | 238 | c.639 others(253): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(231): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223 | 1 | 298 | 0.0034 | 238 | c.51+ others(251): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(231): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 298 | 0.0034 | 238 | c.51+ others(251): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(231): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0157 | 1 | 298 | 0.0034 | 238 | c.51+ others(251): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(231): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 298 | 0.0034 | 238 | c.51+ others(251): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(231): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 298 | 0.0034 | 238 | c.51+ others(251): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(231): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 298 | 0.0034 | 238 | c.51+ others(251): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133425958 | A | AAGTGGAG others(231): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 276 | 0.0036 | 238 | c.490 others(257): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| BRIP1_chr17_61674139_61868528 | 61716776 | C | CCCATATT others(231): Show |
intron_variant | MODIFIER | NA19077.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0117a0001c0001t0011g0046 | 2 | 266 | 0.0075 | 238 | c.238 others(255): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 16/19 | chr17 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1418436 | G | GTCCTGCT others(231): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 360 | 0.0028 | 238 | c.92- others(255): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1432384 | C | CGGTCTGG others(231): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0210 | 1 | 360 | 0.0028 | 238 | c.92- others(253): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BSN_chr3_49549477_49676549 | 49606255 | T | TACATATA others(231): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0023 | a0003c0023t0014 | a0003c0023t0014g0157 | 1 | 186 | 0.0054 | 238 | c.225 others(257): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BTAF1_chr10_91918770_92036437 | 92012181 | C | CTCCCCTC others(231): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02723.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0022a0001c0001t0001g0041a0001c0001t0001g0061others(10): Show | 13 | 330 | 0.0394 | 238 | c.431 others(255): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 30/37 | chr10 | TogoVar | ||||||
| BTNL9_chr5_181035266_181066521 | 181046098 | C | CCAACACC others(231): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01192.hp1 HG01433.hp1 others(1): Show |
a0001 | a0001c0005a0001c0008 | a0001c0005t0004a0001c0005t0024a0001c0008t0001 | a0001c0005t0004g0028a0001c0005t0004g0131a0001c0005t0024g0028others(1): Show | 4 | 390 | 0.0103 | 238 | c.109 others(253): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| C10orf90_chr10_126419997_126675693 | 126564835 | T | TATATATA others(231): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0197 | 1 | 218 | 0.0046 | 238 | c.314 others(257): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1076911 | G | GGAGGCTG others(231): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 326 | 0.0031 | 238 | c.*59 others(249): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4911 | chr1 | TogoVar | ||||||
| C20orf96_chr20_265863_295750 | 279062 | G | GGGAGGGC others(231): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 410 | 0.0024 | 238 | c.465 others(253): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128233 | C | CCAGGCTG others(231): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0247 | 1 | 326 | 0.0031 | 238 | c.-1- others(251): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1128361 | C | CCACCCTG others(231): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0248 | 1 | 326 | 0.0031 | 238 | c.-1- others(251): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115328703 | T | TATATACA others(231): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0050 | 1 | 164 | 0.0061 | 238 | c.125 others(257): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115328703 | T | TATATACA others(231): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02735.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0002g0071a0001c0001t0002g0077a0001c0001t0010g0051others(2): Show | 5 | 164 | 0.0305 | 238 | c.125 others(257): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115328703 | T | TATATACA others(231): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0069 | 1 | 164 | 0.0061 | 238 | c.125 others(257): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CADM1_chr11_115164236_115509415 | 115328703 | T | TATATACA others(231): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0082 | 1 | 164 | 0.0061 | 238 | c.125 others(257): Show |
CADM1 | ENSG00000182985.19 | transcript | ENST00000331581.11 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
| CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(231): Show |
intron_variant | MODIFIER | HG01257.hp1 HG02698.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0007 | a0003c0003t0001g0025a0003c0003t0007g0064 | 2 | 328 | 0.0061 | 238 | c.100 others(257): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | ||||||
| CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(231): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 262 | 0.0038 | 238 | c.218 others(253): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | ||||||
| CALD1_chr7_134774634_134975729 | 134929621 | C | CACACACA others(231): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0092 | 1 | 262 | 0.0038 | 238 | c.218 others(253): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 4/14 | chr7 | TogoVar | ||||||
| CAMSAP2_chr1_200733893_200865704 | 200816873 | C | CACACACG others(231): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 366 | 0.0027 | 238 | c.645 others(255): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAMSAP2_chr1_200733893_200865704 | 200816925 | C | CACACACG others(231): Show |
intron_variant | MODIFIER | NA18991.hp1 NA20129.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0066a0001c0001t0003g0073 | 3 | 366 | 0.0082 | 238 | c.645 others(255): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CAPN15_chr16_522712_559636 | 544729 | A | ACGTCGCC others(231): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 410 | 0.0024 | 238 | c.-22 others(255): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CASQ2_chr1_115695021_115773714 | 115761439 | A | AAGAAGAA others(231): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0241 | 1 | 364 | 0.0028 | 238 | c.234 others(255): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 1/10 | chr1 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293570 | C | CCACCTTC others(231): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 284 | 0.0035 | 238 | c.411 others(255): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293571 | C | CACCTTCC others(231): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0049 | 1 | 284 | 0.0035 | 238 | c.411 others(255): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
| CCR9_chr3_45881543_45908174 | 45890269 | A | ATATTTAT others(231): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 424 | 0.0024 | 238 | c.-29 others(255): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(231): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017 | a0001c0001t0008g0028a0001c0001t0017g0032 | 2 | 256 | 0.0078 | 238 | c.-45 others(259): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTTC others(231): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0045a0001c0001t0014g0046 | 2 | 256 | 0.0078 | 238 | c.-45 others(259): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CENPJ_chr13_24877279_24927861 | 24881964 | A | ATATATAG others(231): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0227 | 1 | 440 | 0.0023 | 238 | c.*12 others(249): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 314 | chr13 | TogoVar | ||||||
| CENPJ_chr13_24877279_24927861 | 24881980 | C | CTATATAG others(231): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0246 | 1 | 440 | 0.0023 | 238 | c.*11 others(249): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 298 | chr13 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132887600 | T | TTCTCTCT others(231): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01261.hp1 others(21): Show |
a0008a0009a0013others(8): Show | a0008c0009a0008c0097a0009c0018others(13): Show | a0008c0009t0001a0008c0009t0002a0008c0097t0001others(14): Show | a0008c0009t0001g0120a0008c0009t0001g0122a0008c0009t0001g0123others(21): Show | 24 | 246 | 0.0976 | 238 | c.330 others(257): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar |