| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF10_chr8_1818926_1963641 | 1888130 | TTTGCGAG others(798): Show |
T | intron_variant | MODIFIER | HG00597.hp2 NA18948.hp1 NA18967.hp1 others(7): Show |
a0001a0006a0007 | a0001c0015a0001c0043a0001c0155others(5): Show | a0001c0015t0001a0001c0043t0002a0001c0043t0012others(6): Show | a0001c0015t0001g0262a0001c0043t0002g0153a0001c0043t0012g0279others(7): Show | 10 | 363 | 0.0276 | -805 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ATP8A2_chr13_25366974_26030851 | 25494040 | GAGGCAGA others(798): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 122 | 0.0082 | -805 | c.221 others(19): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1430304 | CGGTCTGG others(798): Show |
C | intron_variant | MODIFIER | HG03942.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0067 | a0001c0001t0018g0334a0001c0001t0067g0252 | 2 | 360 | 0.0056 | -805 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CALM1_chr14_90392029_90413268 | 90410082 | TTTTTGAG others(798): Show |
T | downstream_gene_variant | MODIFIER | NA19055.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0024a0001c0001t0010g0058 | 2 | 408 | 0.0049 | -805 | c.*53 others(11): Show |
CALM1 | ENSG00000198668.14 | transcript | ENST00000356978.9 | protein_coding | 1815 | chr14 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1013661 | CGCCTCCA others(798): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 40 | 0.0250 | -805 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FOXQ1_chr6_1307098_1319758 | 1318790 | GGCCGGGC others(798): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0000 | 1 | 406 | 0.0025 | -805 | c.*48 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4033 | chr6 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 79514843 | GCTTCTCT others(798): Show |
G | intron_variant | MODIFIER | HG02257.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0010a0001c0007t0002 | a0001c0001t0010g0006a0001c0007t0002g0010 | 2 | 24 | 0.0833 | -805 | c.344 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288793 | CCCCGTGT others(797): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 295 | 0.0034 | -804 | c.*39 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3597 | chr1 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940651 | ATGTGGAC others(797): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp2 others(67): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0013a0005c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0215a0001c0001t0001g0216others(66): Show | 70 | 326 | 0.2147 | -804 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ATP10A_chr15_25673712_25868327 | 25758121 | CGACCACC others(797): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0044 | a0044c0043 | a0044c0043t0001 | a0044c0043t0001g0041 | 1 | 300 | 0.0033 | -804 | c.654 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79885976 | AACATAGG others(797): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176a0001c0001t0001g0308a0001c0001t0001g0309others(1): Show | 4 | 312 | 0.0128 | -804 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| MLF1_chr3_158566194_158611456 | 158569738 | ATTTTCGA others(797): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0051 | 1 | 380 | 0.0026 | -804 | c.-15 others(10): Show |
MLF1 | ENSG00000178053.21 | transcript | ENST00000466246.7 | protein_coding | 1455 | chr3 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 255190 | CGTCTGTC others(797): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094 | 1 | 133 | 0.0075 | -804 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 255216 | TGTGACTA others(797): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01361.hp1 HG01496.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0004t0001g0048 | 3 | 133 | 0.0226 | -804 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 257092 | CGTGACTA others(797): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03516.hp2 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0006 | a0001c0001t0002g0109a0001c0001t0006g0095a0001c0002t0006g0060 | 3 | 133 | 0.0226 | -804 | c.439 others(18): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| SEC11A_chr15_84664544_84721139 | 84699704 | AGCTTGAG others(797): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0138a0001c0001t0001g0183 | 3 | 320 | 0.0094 | -804 | c.52- others(15): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430353 | GTCTGGTC others(796): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0058 | a0002c0002t0058g0325 | 1 | 360 | 0.0028 | -803 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| CCDC200_chr17_43216420_43233623 | 43232820 | TGCCAGTG others(796): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 334 | 0.0030 | -803 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4198 | chr17 | TogoVar | ||||||
| CPNE7_chr16_89570758_89602246 | 89592280 | CTGGGATT others(796): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 348 | 0.0029 | -803 | c.130 others(19): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IDI1_chr10_1034419_1054119 | 1046767 | CTGTCTAC others(796): Show |
C | intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 438 | 0.0023 | -803 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| AFDN_chr6_167821911_167977023 | 167940393 | GTGAGGGT others(795): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0211 | 1 | 326 | 0.0031 | -802 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1015293 | CGGCGCCT others(795): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0010 | a0001c0010t0025 | a0001c0010t0025g0012 | 1 | 40 | 0.0250 | -802 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806693 | CCTCAGCC others(795): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0230 | 1 | 314 | 0.0032 | -802 | c.*25 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2407 | chr2 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346235 | CGGGAGGA others(795): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG04199.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0098a0001c0001t0001g0100others(1): Show | 4 | 288 | 0.0139 | -802 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806693 | CCTCAGCC others(795): Show |
C | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 319 | 0.0031 | -802 | c.-25 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2499 | chr2 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79919511 | CAGGAACC others(795): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0148 | 1 | 352 | 0.0028 | -802 | c.392 others(15): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920323 | GGAGAGGT others(795): Show |
G | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 | 1 | 352 | 0.0028 | -802 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431158 | GTCTGGTC others(794): Show |
G | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0148 | 1 | 360 | 0.0028 | -801 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| ADAM12_chr10_126007391_126393477 | 126056611 | TACAATGC others(793): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(108): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(36): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0019others(65): Show | a0001c0002t0001g0220a0001c0002t0002g0022a0001c0002t0002g0038others(108): Show | 111 | 252 | 0.4405 | -800 | c.160 others(19): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 14/22 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1700964 | CCAATACA others(793): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp2 HG02965.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0040a0002c0002t0005 | a0001c0001t0001g0065a0001c0003t0040g0073a0002c0002t0005g0028 | 3 | 106 | 0.0283 | -800 | c.100 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240907750 | CCTCTACC others(793): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0032 | a0032c0051 | a0032c0051t0001 | a0032c0051t0001g0073 | 1 | 350 | 0.0029 | -800 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241766005 | GTTGGGGA others(793): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0168 | 1 | 412 | 0.0024 | -800 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241766105 | CTTGGGGA others(793): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 |
a0002a0005 | a0002c0009a0005c0018 | a0002c0009t0008a0005c0018t0008 | a0002c0009t0008g0094a0005c0018t0008g0327 | 2 | 412 | 0.0049 | -800 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DPH7_chr9_137549444_137583925 | 137567702 | CGTGAGGA others(793): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 340 | 0.0029 | -800 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(793): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0007 | 4 | 344 | 0.0116 | -800 | c.-17 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1350401 | CGGGCAGG others(793): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG03209.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0081 | 3 | 344 | 0.0087 | -800 | c.-21 others(11): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 984 | chr1 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 601195 | TCCCCTTG others(793): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0003t0003a0001c0003t0007others(2): Show | a0001c0003t0002g0155a0001c0003t0003g0161a0001c0003t0003g0169others(3): Show | 6 | 272 | 0.0221 | -800 | c.743 others(17): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346265 | CGGGAGGA others(793): Show |
C | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 288 | 0.0035 | -800 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(793): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 338 | 0.0118 | -800 | c.*28 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350401 | CGGGCAGG others(793): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG03209.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0013a0001c0001t0017g0060 | 4 | 338 | 0.0118 | -800 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2289 | chr1 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 260654 | TCAGAGCA others(793): Show |
T | downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 266 | 0.0038 | -800 | c.*42 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3573 | chr5 | TogoVar | ||||||
| SERAC1_chr6_158104519_158173262 | 158127234 | TGAAAAAT others(793): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(338): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(316): Show | 341 | 366 | 0.9317 | -800 | c.101 others(16): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 10/16 | chr6 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79909643 | TCCTCACC others(793): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021 | a0001c0001t0007g0269a0001c0001t0021g0268 | 2 | 352 | 0.0057 | -800 | c.609 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 5/5 | chr18 | TogoVar | ||||||
| ADAMTS2_chr5_179105853_179350461 | 179329065 | TGCCTGCA others(792): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0073 | 1 | 276 | 0.0036 | -799 | c.534 others(19): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 391309 | GGGCCAGA others(792): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0004 | a0004c0003 | a0004c0003t0007 | a0004c0003t0007g0237 | 1 | 268 | 0.0037 | -799 | c.351 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AMZ1_chr7_2683202_2724683 | 2707296 | ACACACAC others(792): Show |
A | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0004 | a0001c0004t0063 | a0001c0004t0063g0193 | 1 | 438 | 0.0023 | -799 | c.473 others(16): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EHMT1_chr9_137614005_137841127 | 137818778 | ACTTAGGG others(792): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0023 | a0003c0023t0001 | a0003c0023t0001g0075 | 1 | 170 | 0.0059 | -799 | c.354 others(18): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 25/26 | chr9 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1046800 | TCTACACC others(792): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 438 | 0.0023 | -799 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| PALLD_chr4_168492052_168933441 | 168797160 | ATTACTTG others(792): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0046 | 1 | 156 | 0.0064 | -799 | c.196 others(21): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 10/21 | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746861 | GCCCCGGG others(792): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189 | 1 | 366 | 0.0027 | -799 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |