| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC22_chr6_31005474_31040402 | 31026241 | CTCTACCA others(1037): Show |
C | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG06807.hp2 |
a0050 | a0050c0048 | a0050c0048t0001 | a0050c0048t0001g0050 | 2 | 461 | 0.0043 | -1044 | c.834 others(8): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1067/6019 | 834/5322 | 278/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| RADIL_chr7_4792055_4888716 | 4802443 | GCCCCCTC others(1037): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG03041.hp2 |
a0012 | a0012c0023a0012c0042 | a0012c0023t0008a0012c0042t0008 | a0012c0023t0008g0062a0012c0023t0008g0063a0012c0042t0008g0138 | 3 | 292 | 0.0103 | -1044 | c.249 others(16): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 11/14 | chr7 | TogoVar | ||||||
| SPACA9_chr9_132873898_132895030 | 132883699 | GAGGTCAG others(1037): Show |
G | exon_loss_variant others(1): Show |
HIGH | NA18941.hp1 | a0003 | a0003c0010 | a0003c0010t0019 | a0003c0010t0019g0098 | 1 | 430 | 0.0023 | -1044 | c.-37 others(15): Show |
SPACA9 | ENSG00000165698.16 | transcript | ENST00000356311.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129855903 | AGAGTCCG others(1037): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 94 | 0.0106 | -1044 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| UNKL_chr16_1358205_1419704 | 1372943 | ACACAGGG others(1036): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0017a0001c0003t0068a0001c0008t0055 | a0001c0003t0017g0298a0001c0003t0017g0299a0001c0003t0017g0301others(2): Show | 5 | 322 | 0.0155 | -1043 | c.126 others(19): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 10/14 | chr16 | TogoVar | ||||||
| C13orf46_chr13_113948705_113979076 | 113954886 | AGAGACGA others(1035): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0152 | 1 | 414 | 0.0024 | -1042 | c.*84 others(10): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 845 | chr13 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392979 | AGGCAGGT others(1035): Show |
A | intron_variant | MODIFIER | HG00558.hp1 NA18953.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0184a0001c0002t0016 | a0001c0001t0184g0262a0001c0002t0016g0172 | 2 | 346 | 0.0058 | -1042 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| DHCR24_chr1_54844627_54892195 | 54876671 | ATTCACCC others(1034): Show |
A | intron_variant | MODIFIER | NA18954.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 2 | 386 | 0.0052 | -1041 | c.388 others(16): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| FAM149A_chr4_186099704_186180337 | 186175985 | CTAACAGG others(1034): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(116): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0005a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(39): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(114): Show | 119 | 390 | 0.3051 | -1041 | c.*39 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 649 | chr4 | TogoVar | ||||||
| UBOX5_chr20_3102573_3164865 | 3104433 | CCACCATG others(1034): Show |
C | downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0324 | 1 | 384 | 0.0026 | -1041 | c.*46 others(11): Show |
UBOX5 | ENSG00000185019.17 | transcript | ENST00000217173.7 | protein_coding | 3139 | chr20 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429859 | TCAGCAGT others(1033): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG01975.hp2 HG01978.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007a0002c0002t0035 | a0001c0001t0001g0313a0002c0002t0007g0294a0002c0002t0007g0304others(3): Show | 6 | 360 | 0.0167 | -1040 | 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 | 1430378 | CCAGCAGT others(1033): Show |
C | intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0002 | a0002c0002t0050 | a0002c0002t0050g0165 | 1 | 360 | 0.0028 | -1040 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DHCR24_chr1_54844627_54892195 | 54876671 | ATTCACCC others(1033): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG02056.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0060others(19): Show | 28 | 386 | 0.0725 | -1040 | c.388 others(16): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1350126 | AGGAGCGA others(1033): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02132.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0017a0001c0001t0001g0120a0001c0001t0007g0039 | 3 | 344 | 0.0087 | -1040 | c.-21 others(11): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 709 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350126 | AGGAGCGA others(1033): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -1040 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2564 | chr1 | TogoVar | ||||||
| PAFAH1B1_chr17_2588654_2690615 | 2667301 | TCCAGCCT others(1033): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0001t0001g0132others(1): Show | 4 | 280 | 0.0143 | -1040 | c.399 others(16): Show |
PAFAH1B1 | ENSG00000007168.14 | transcript | ENST00000397195.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560493 | GGCCCTGA others(1033): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0122a0001c0002t0002g0032 | 2 | 180 | 0.0111 | -1040 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(1033): Show |
G | intron_variant | MODIFIER | HG01243.hp2 NA19012.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0145a0001c0001t0001g0165a0001c0002t0002g0001 | 3 | 180 | 0.0167 | -1040 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560572 | ATTCTTGG others(1033): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 180 | 0.0056 | -1040 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| DHCR24_chr1_54844627_54892195 | 54876671 | ATTCACCC others(1032): Show |
A | intron_variant | MODIFIER | NA18947.hp1 NA18950.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0075others(1): Show | 4 | 386 | 0.0104 | -1039 | c.388 others(16): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350135 | GGGGGGAG others(1032): Show |
G | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 338 | 0.0030 | -1039 | c.*24 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2555 | chr1 | TogoVar | ||||||
| SLC10A7_chr4_146248981_146526940 | 146401121 | TCATTCAG others(1032): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18957.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084a0001c0001t0005g0115a0001c0001t0005g0116others(1): Show | 4 | 244 | 0.0164 | -1039 | c.435 others(19): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4360726 | CCTCGTGA others(1031): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0047 | a0001c0047t0014 | a0001c0047t0014g0024 | 1 | 126 | 0.0079 | -1038 | c.415 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346045 | CGAGAGCA others(1031): Show |
C | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 288 | 0.0035 | -1038 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131958129 | CGTCCCCC others(1031): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0045 | 1 | 394 | 0.0025 | -1038 | c.*21 others(11): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2188 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| PRKCA_chr17_66297613_66815743 | 66798502 | GGTGGTGA others(1031): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01515.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0045a0001c0003t0001 | a0001c0001t0045g0006a0001c0003t0001g0164 | 2 | 178 | 0.0112 | -1038 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ZNF804B_chr7_88754700_89343528 | 89048134 | GTCATTCT others(1031): Show |
G | intron_variant | MODIFIER | NA20300.hp1 NA21309.hp2 |
a0002a0021 | a0002c0007a0021c0019 | a0002c0007t0001a0021c0019t0003 | a0002c0007t0001g0133a0021c0019t0003g0053 | 2 | 166 | 0.0121 | -1038 | c.109 others(21): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1089158 | GTTGTTGT others(1030): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0120a0001c0001t0124a0004c0005t0122 | a0001c0001t0120g0024a0001c0001t0124g0050a0004c0005t0122g0057 | 3 | 162 | 0.0185 | -1037 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(1030): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 350 | 0.0029 | -1037 | c.*21 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1740824 | GACAGTGA others(1030): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0133 | 1 | 445 | 0.0023 | -1037 | c.-20 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2046 | chr17 | TogoVar | ||||||
| VEGFA_chr6_43765211_43791487 | 43787931 | CTTTTTTT others(1030): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0024 | 1 | 446 | 0.0022 | -1037 | c.*33 others(11): Show |
VEGFA | ENSG00000112715.26 | transcript | ENST00000672860.3 | protein_coding | 1445 | chr6 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740824 | GACAGTGA others(1030): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 431 | 0.0023 | -1037 | c.*31 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2240 | chr17 | TogoVar | ||||||
| ZNF879_chr5_179018804_179040064 | 179039027 | AGCCTCTC others(1030): Show |
A | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 456 | 0.0022 | -1037 | c.*53 others(11): Show |
ZNF879 | ENSG00000234284.7 | transcript | ENST00000444149.7 | protein_coding | 3964 | chr5 | TogoVar | ||||||
| AKAP6_chr14_32324298_32842684 | 32484098 | ATAGGTGT others(1029): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0006others(50): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(94): Show | a0001c0001t0001g0029a0001c0001t0001g0039a0001c0001t0001g0049others(127): Show | 130 | 154 | 0.8442 | -1036 | c.324 others(19): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | chr14 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1029): Show |
T | intron_variant | MODIFIER | HG02015.hp2 HG02895.hp2 HG03139.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003a0001c0013others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0006others(4): Show | a0001c0002t0001g0072a0001c0002t0004g0067a0001c0002t0004g0070others(6): Show | 9 | 248 | 0.0363 | -1036 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(1029): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01943.hp1 HG02074.hp1 |
a0001 | a0001c0002a0001c0005a0001c0007 | a0001c0002t0001a0001c0005t0004a0001c0007t0003 | a0001c0002t0001g0058a0001c0005t0004g0086a0001c0007t0003g0037 | 3 | 248 | 0.0121 | -1036 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| LMLN_chr3_197955217_198048720 | 198003629 | TTATCTAT others(1029): Show |
T | intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0231 | 1 | 258 | 0.0039 | -1036 | c.131 others(18): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| MLPH_chr2_237482251_237560322 | 237544162 | GGGGGGAC others(1029): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0082 | 1 | 286 | 0.0035 | -1036 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| WDTC1_chr1_27229632_27313636 | 27244839 | CTGCTATG others(1029): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 214 | 0.0047 | -1036 | c.-10 others(21): Show |
WDTC1 | ENSG00000142784.16 | transcript | ENST00000319394.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| YBEY_chr21_46281342_46302751 | 46293436 | TCAGCCAC others(1029): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 404 | 0.0025 | -1036 | c.339 others(17): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCM1_chr8_17917988_18034948 | 17994714 | CTTTGGGA others(1028): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02572.hp2 others(5): Show |
a0005 | a0005c0005 | a0005c0005t0008a0005c0005t0044a0005c0005t0055 | a0005c0005t0008g0168a0005c0005t0008g0169a0005c0005t0008g0174others(5): Show | 8 | 368 | 0.0217 | -1035 | c.482 others(19): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2280720 | CGATCTTC others(1028): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0060 | 1 | 330 | 0.0030 | -1035 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1027): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0087 | 1 | 106 | 0.0094 | -1034 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566692 | ACTCTGTC others(1027): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 340 | 0.0029 | -1034 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| KLC1_chr14_103624211_103706544 | 103670515 | GTAGTAGA others(1027): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 368 | 0.0027 | -1034 | c.987 others(16): Show |
KLC1 | ENSG00000126214.22 | transcript | ENST00000334553.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MRPS28_chr8_79913717_80035259 | 79957587 | AAGTGCCT others(1027): Show |
A | intron_variant | MODIFIER | NA19080.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068 | 2 | 300 | 0.0067 | -1034 | c.396 others(19): Show |
MRPS28 | ENSG00000147586.10 | transcript | ENST00000276585.9 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| PPP3CA_chr4_101018418_101352526 | 101038996 | TTCAGACA others(1027): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(12): Show | a0001c0001t0002g0055a0001c0001t0008g0139a0001c0001t0008g0147others(19): Show | 22 | 192 | 0.1146 | -1034 | c.124 others(18): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 11/13 | chr4 | TogoVar | ||||||
| SLMAP_chr3_57751309_57935003 | 57905313 | ACTCTGTT others(1027): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0237 | 1 | 310 | 0.0032 | -1034 | c.150 others(19): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235614 | CCCTCTGC others(1026): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0089 | 1 | 106 | 0.0094 | -1033 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806539 | CCCCTCAG others(1026): Show |
C | downstream_gene_variant | MODIFIER | NA18983.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0236 | 1 | 314 | 0.0032 | -1033 | c.*23 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2253 | chr2 | TogoVar |