| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAP2_chr2_209419047_209739112 | 209540495 | GTGGCACG others(1133): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0033a0001c0003t0006a0001c0003t0018others(5): Show | a0001c0001t0033g0007a0001c0003t0006g0003a0001c0003t0006g0004others(11): Show | 14 | 148 | 0.0946 | -1140 | c.-17 others(21): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PARN_chr16_14430701_14635260 | 14455613 | AAAACTTA others(1133): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 | 1 | 169 | 0.0059 | -1140 | c.167 others(19): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077283 | TCTATGGG others(1133): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 324 | 0.0062 | -1140 | c.-44 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2978 | chr1 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077301 | CGGGAGGC others(1133): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0008 | 1 | 324 | 0.0031 | -1140 | c.-44 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2996 | chr1 | TogoVar | ||||||
| SAMD3_chr6_130139315_130227951 | 130185681 | TGTGCAGT others(1133): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138a0001c0001t0002g0227 | 2 | 338 | 0.0059 | -1140 | c.384 others(17): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
| ADGRL3_chr4_61195326_62083335 | 61418421 | GTTTTGTC others(1132): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0017 | a0001c0002t0030a0001c0002t0034a0001c0006t0006others(1): Show | a0001c0002t0030g0055a0001c0002t0034g0054a0001c0006t0006g0033others(1): Show | 4 | 58 | 0.0690 | -1139 | c.-17 others(21): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2278993 | AGAGGGAG others(1132): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 50 | 0.0200 | -1139 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| NXN_chr17_794310_984776 | 820561 | GAGATCGT others(1132): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(155): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(155): Show | 158 | 242 | 0.6529 | -1139 | c.713 others(16): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1132): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0078 | 1 | 366 | 0.0027 | -1139 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393499 | AGGTGGTC others(1132): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0072a0001c0006t0058a0001c0006t0061 | a0001c0004t0072g0113a0001c0006t0058g0104a0001c0006t0061g0112 | 3 | 346 | 0.0087 | -1139 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745044 | CGGGGGTC others(1131): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 366 | 0.0027 | -1138 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745410 | TCCGTGGA others(1131): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 | 1 | 366 | 0.0027 | -1138 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745467 | TCCGTGGA others(1131): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 366 | 0.0027 | -1138 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745866 | TCCGTGGA others(1131): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0363 | 1 | 366 | 0.0027 | -1138 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745439 | CCCGGGGG others(1130): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 366 | 0.0027 | -1137 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745496 | CCCCGGGG others(1130): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 366 | 0.0027 | -1137 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746412 | GGGGTCGC others(1130): Show |
G | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0127 | 1 | 366 | 0.0027 | -1137 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PPP4R4_chr14_94169322_94284734 | 94172401 | AAGACCAC others(1130): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 307 | 0.0033 | -1137 | c.-20 others(10): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 1920 | chr14 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745099 | CCCCGGGG others(1129): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 366 | 0.0027 | -1136 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PTPRA_chr20_2868481_3043669 | 3032576 | GCCAACAT others(1129): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0284 | 1 | 356 | 0.0028 | -1136 | c.192 others(19): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392812 | AAGGCAGG others(1129): Show |
A | intron_variant | MODIFIER | NA18973.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0212a0001c0001t0005g0288 | 2 | 346 | 0.0058 | -1136 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10638958 | AGTTGCAC others(1128): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0217 | 1 | 324 | 0.0031 | -1135 | c.637 others(16): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 2174558 | GTGGAGAC others(1128): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0010a0001c0003t0010a0001c0005t0011 | a0001c0001t0010g0034a0001c0003t0010g0096a0001c0005t0011g0074 | 3 | 104 | 0.0289 | -1135 | c.-42 others(19): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
| SHROOM4_chrX_50581796_50819194 | 50717579 | TGTATTCT others(1128): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 175 | 0.0057 | -1135 | c.118 others(19): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429644 | CGGTCTGG others(1127): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG02273.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0004a0001c0016t0018 | a0001c0001t0004g0175a0001c0001t0004g0180a0001c0016t0018g0183 | 3 | 360 | 0.0083 | -1134 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1431418 | TCAGCAGT others(1127): Show |
T | intron_variant | MODIFIER | HG01175.hp2 NA18963.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0065a0002c0002t0005 | a0001c0001t0065g0256a0002c0002t0005g0276 | 2 | 360 | 0.0056 | -1134 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PTPRA_chr20_2868481_3043669 | 3032499 | GGCTCACG others(1127): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG03710.hp2 NA20752.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0198a0001c0003t0001g0203a0001c0006t0001g0217 | 3 | 356 | 0.0084 | -1134 | c.192 others(19): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114084347 | CTCCTCGC others(1127): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 67 | 0.0149 | -1134 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112787325 | TGGAGACC others(1126): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0157a0001c0001t0023g0158 | 2 | 254 | 0.0079 | -1133 | c.162 others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1323889 | AAATAAAT others(1126): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp1 others(18): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(8): Show | a0001c0002t0001g0209a0001c0003t0001g0219a0001c0005t0001g0180others(18): Show | 21 | 232 | 0.0905 | -1133 | c.947 others(16): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| MYOF_chr10_93301429_93487334 | 93326694 | GGCTCACT others(1126): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0017 | a0001c0004t0003a0001c0005t0001a0001c0017t0001 | a0001c0004t0003g0233a0001c0004t0003g0238a0001c0005t0001g0079others(1): Show | 4 | 240 | 0.0167 | -1133 | c.513 others(17): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 45/53 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235660 | TCCCCTCT others(1125): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0020 | 1 | 106 | 0.0094 | -1132 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235692 | GCCTCCCG others(1125): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0049a0001c0003t0001a0001c0007t0066 | a0001c0001t0049g0040a0001c0003t0001g0070a0001c0007t0066g0105 | 3 | 106 | 0.0283 | -1132 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CHID1_chr11_862859_915810 | 871014 | GGAGTCTC others(1125): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 386 | 0.0026 | -1132 | c.960 others(16): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | ||||||
| PRKN_chr6_161342417_162732766 | 162084788 | AAACTTCA others(1125): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02922.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0001 | a0001c0003t0003g0027a0001c0004t0001g0006 | 2 | 32 | 0.0625 | -1132 | c.535 others(19): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343387 | CCCCCTGT others(1125): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 190 | 0.0053 | -1132 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PEX5L_chr3_179789958_180041937 | 179943176 | ATTGCTCT others(1124): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 220 | 0.0046 | -1131 | c.93+ others(17): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
| RSPH14_chr22_23054415_23146990 | 23136241 | ATGTCATG others(1124): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(89): Show |
a0001a0005a0008 | a0001c0001a0001c0011a0005c0005others(1): Show | a0001c0001t0001a0001c0011t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0149a0001c0001t0001g0150others(89): Show | 92 | 314 | 0.2930 | -1131 | c.302 others(17): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 3/6 | chr22 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343543 | GGCAGCTT others(1124): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02965.hp2 |
a0001a0006 | a0001c0002a0006c0028 | a0001c0002t0001a0006c0028t0001 | a0001c0002t0001g0170a0006c0028t0001g0117 | 2 | 190 | 0.0105 | -1131 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129088415 | GGGGTGTC others(1124): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 94 | 0.0106 | -1131 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431986 | CCAGCAGT others(1123): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0050 | 1 | 360 | 0.0028 | -1130 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LSS_chr21_46183446_46233774 | 46189828 | AGTAGCCA others(1123): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02622.hp2 others(10): Show |
a0001a0004 | a0001c0006a0004c0007 | a0001c0006t0005a0004c0007t0005 | a0001c0006t0005g0049a0001c0006t0005g0056a0004c0007t0005g0012others(9): Show | 13 | 358 | 0.0363 | -1130 | c.*14 others(10): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 22/22 | 146 | chr21 | TogoVar | |||||
| RBM47_chr4_40418280_40634864 | 40633734 | GTGAGCCA others(1123): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02922.hp2 |
a0001a0002 | a0001c0003a0002c0010a0002c0015 | a0001c0003t0024a0002c0010t0012a0002c0015t0008 | a0001c0003t0024g0082a0002c0010t0012g0129a0002c0015t0008g0081 | 3 | 278 | 0.0108 | -1130 | c.-57 others(11): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 3871 | chr4 | TogoVar | ||||||
| UQCRC1_chr3_48594002_48614646 | 48610705 | AAAAAAAA others(1123): Show |
A | upstream_gene_variant | MODIFIER | NA18747.hp1 NA18954.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0030 | 5 | 308 | 0.0162 | -1130 | c.-22 others(11): Show |
UQCRC1 | ENSG00000010256.11 | transcript | ENST00000203407.6 | protein_coding | 1060 | chr3 | TogoVar | ||||||
| CHMP3_chr2_86498430_86568443 | 86548823 | GCGCACCT others(1121): Show |
G | intron_variant | MODIFIER | HG00408.hp1 NA18940.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0102a0001c0001t0002g0104a0001c0001t0005g0103 | 3 | 336 | 0.0089 | -1128 | c.46- others(15): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346058 | GGGAGGAC others(1121): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 288 | 0.0035 | -1128 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686214 | GCCCCCAG others(1121): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 362 | 0.0028 | -1128 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PPP1R16A_chr8_144472982_144507121 | 144494555 | ACCTTGGC others(1121): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 356 | 0.0028 | -1128 | c.-73 others(18): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PTPRG_chr3_61556571_62302609 | 61870068 | GTACCATC others(1121): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 |
a0002a0009 | a0002c0003a0009c0018 | a0002c0003t0002a0009c0018t0006 | a0002c0003t0002g0061a0009c0018t0006g0039 | 2 | 94 | 0.0213 | -1128 | c.191 others(21): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SNX32_chr11_65828963_65858701 | 65845276 | AAAAAATA others(1121): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 390 | 0.0026 | -1128 | c.37- others(15): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |