| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC4_chr3_195741771_195816929 | 195775635 | CCATACCT others(1073): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01106.hp2 others(3): Show |
a0026a0176a0177others(2): Show | a0026c0009a0176c0037a0177c0035others(2): Show | a0026c0009t0002a0176c0037t0002a0177c0035t0002others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0176c0037t0002g0197others(3): Show | 6 | 249 | 0.0241 | -1080 | c.129 others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195776327 | ATACCTTC others(1073): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 |
a0036a0037 | a0036c0150a0037c0149 | a0036c0150t0007a0037c0149t0006 | a0036c0150t0007g0189a0037c0149t0006g0079 | 2 | 249 | 0.0080 | -1080 | c.129 others(20): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(1073): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(26): Show | 227 | 338 | 0.6716 | -1080 | c.*25 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745720 | GGGGCCCG others(1073): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 366 | 0.0027 | -1080 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PPP2R3B_chrX_328933_391907 | 342489 | GGAGACCT others(1073): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG02165.hp2 others(6): Show |
a0002a0005a0006others(2): Show | a0002c0003a0002c0004a0002c0008others(4): Show | a0002c0003t0003a0002c0004t0002a0002c0008t0002others(4): Show | a0002c0003t0003g0011a0002c0003t0003g0013a0002c0004t0002g0005others(6): Show | 9 | 25 | 0.3600 | -1080 | c.103 others(18): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085876 | CCGGGGAA others(1073): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 67 | 0.0149 | -1080 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8490186 | TCCTGTCT others(1073): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG01884.hp1 others(11): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0002t0005others(4): Show | a0001c0001t0003g0122a0001c0001t0006g0153a0001c0001t0006g0154others(11): Show | 14 | 204 | 0.0686 | -1080 | c.110 others(19): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 10/22 | chr1 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077301 | CGGGAGGC others(1073): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02818.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0012a0002c0002t0019 | a0002c0002t0005g0008a0002c0002t0005g0046a0002c0002t0012g0018others(1): Show | 10 | 324 | 0.0309 | -1080 | c.-43 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2996 | chr1 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288246 | TCTGCTCC others(1073): Show |
T | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 290 | 0.0035 | -1080 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM255B_chr13_113754226_113821995 | 113802582 | AGACCCGG others(1073): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01081.hp2 others(13): Show |
a0002 | a0002c0004a0002c0010a0002c0018 | a0002c0004t0004a0002c0004t0014a0002c0004t0139others(7): Show | a0002c0004t0004g0004a0002c0004t0004g0037a0002c0004t0004g0042others(13): Show | 16 | 260 | 0.0615 | -1080 | c.669 others(16): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392913 | CAGGTGGT others(1073): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG03453.hp2 |
a0001a0011 | a0001c0004a0011c0043 | a0001c0004t0087a0011c0043t0177 | a0001c0004t0087g0299a0011c0043t0177g0300 | 2 | 346 | 0.0058 | -1080 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADA2_chr22_17173790_17224435 | 17186961 | TCGAGACC others(1072): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0005 | a0005c0016 | a0005c0016t0045 | a0005c0016t0045g0341 | 1 | 408 | 0.0025 | -1079 | c.108 others(18): Show |
ADA2 | ENSG00000093072.19 | transcript | ENST00000399837.8 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349975 | GGGAGGAG others(1072): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 344 | 0.0029 | -1079 | c.-19 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 558 | chr1 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1350095 | GGGGGGAG others(1072): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0006 | 1 | 344 | 0.0029 | -1079 | c.-21 others(11): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 678 | chr1 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1350349 | GGGGGCCT others(1072): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0006 | 1 | 344 | 0.0029 | -1079 | c.-23 others(11): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 932 | chr1 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1089817 | GAAAGTGC others(1072): Show |
G | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0157 | 1 | 162 | 0.0062 | -1079 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349975 | GGGAGGAG others(1072): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -1079 | c.*25 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2715 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350149 | GGGGGCCT others(1072): Show |
G | downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 338 | 0.0030 | -1079 | c.*23 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2541 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350295 | GGGGGGAG others(1072): Show |
G | downstream_gene_variant | MODIFIER | NA19084.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0041 | 1 | 338 | 0.0030 | -1079 | c.*22 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2395 | chr1 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1350349 | GGGGGCCT others(1072): Show |
G | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 338 | 0.0030 | -1079 | c.*21 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2341 | chr1 | TogoVar | ||||||
| PDGFRL_chr8_17572216_17648144 | 17623053 | CAGTTTCA others(1072): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 400 | 0.0025 | -1079 | c.505 others(17): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| STX8_chr17_9245471_9580820 | 9449585 | ATTGTGGT others(1072): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 188 | 0.0053 | -1079 | c.541 others(19): Show |
STX8 | ENSG00000170310.15 | transcript | ENST00000306357.9 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129855828 | GTAACAGA others(1072): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0004 | a0001c0001t0007g0006a0001c0001t0007g0027a0001c0002t0001g0030others(1): Show | 4 | 94 | 0.0426 | -1079 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321885 | CGAGAGAC others(1071): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 88 | 0.0114 | -1078 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| SPATA17_chr1_217626344_217876696 | 217703423 | TGGCCTCC others(1071): Show |
T | intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 252 | 0.0040 | -1078 | c.395 others(19): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF195_chr11_3352927_3384146 | 3367079 | AGCATAAT others(1071): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA18522.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0011a0002c0002t0021 | a0002c0002t0011g0039a0002c0002t0021g0132 | 3 | 366 | 0.0082 | -1078 | c.226 others(17): Show |
ZNF195 | ENSG00000005801.18 | transcript | ENST00000399602.9 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943634 | CTCTCACC others(1070): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 NA19240.hp2 |
a0002a0004 | a0002c0004a0004c0019 | a0002c0004t0002a0004c0019t0001 | a0002c0004t0002g0001a0004c0019t0001g0015 | 2 | 106 | 0.0189 | -1077 | c.*66 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3018 | chr20 | TogoVar | ||||||
| OR2W3_chr1_247890587_247901531 | 247892346 | AATTTGAT others(1070): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(91): Show |
a0000a0001a0002others(7): Show | a0000c0005a0000c0028a0001c0002others(11): Show | a0000c0005t0000a0000c0028t0000a0001c0002t0000others(11): Show | a0000c0005t0000g0000a0000c0028t0000g0000a0001c0002t0000g0000others(11): Show | 94 | 388 | 0.2423 | -1077 | c.-32 others(11): Show |
OR2W3 | ENSG00000238243.3 | transcript | ENST00000360358.3 | protein_coding | 3240 | chr1 | TogoVar | ||||||
| SLC13A5_chr17_6679719_6718369 | 6717292 | GGCTAATT others(1070): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0401 | 1 | 454 | 0.0022 | -1077 | c.-50 others(11): Show |
SLC13A5 | ENSG00000141485.17 | transcript | ENST00000433363.7 | protein_coding | 3924 | chr17 | TogoVar | ||||||
| SPIDR_chr8_47255938_47741306 | 47331967 | TTTTTTTT others(1070): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02965.hp1 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0120a0004c0004t0002g0121a0004c0004t0002g0122others(1): Show | 4 | 216 | 0.0185 | -1077 | c.525 others(19): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TBC1D22A_chr22_46757650_47180693 | 46859373 | TTTTCCAT others(1070): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 112 | 0.0089 | -1077 | c.638 others(19): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| NFATC1_chr18_79390930_79534323 | 79474220 | GACGTAAA others(1069): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0285 | 1 | 322 | 0.0031 | -1076 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| HLA-DQB1_chr6_32654467_32671657 | 32655740 | TATTTATT others(1068): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(209): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0017others(7): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(13): Show | a0001c0001t0006g0003a0001c0001t0006g0017a0001c0001t0012g0014others(31): Show | 212 | 402 | 0.5274 | -1075 | c.*34 others(11): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 3726 | chr6 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393158 | GGGGAAGG others(1068): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 NA19007.hp1 |
a0001 | a0001c0001a0001c0014a0001c0031 | a0001c0001t0157a0001c0014t0008a0001c0031t0098 | a0001c0001t0157g0065a0001c0014t0008g0028a0001c0031t0098g0273 | 3 | 346 | 0.0087 | -1075 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393190 | GGGTGGTC others(1068): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 346 | 0.0029 | -1075 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CNTN4_chr3_2093866_3062959 | 2385228 | ACTCAGTT others(1067): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 116 | 0.0086 | -1074 | c.-89 others(19): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| MUC22_chr6_31005474_31040402 | 31026229 | CACCACCA others(1067): Show |
C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(20): Show |
a0007a0058a0083others(3): Show | a0007c0004a0007c0053a0058c0090others(5): Show | a0007c0004t0001a0007c0004t0002a0007c0053t0001others(6): Show | a0007c0004t0001g0021a0007c0004t0001g0027a0007c0004t0001g0046others(14): Show | 23 | 461 | 0.0499 | -1074 | c.816 others(8): Show |
p.Thr others(13): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 1049/6019 | 816/5322 | 272/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MUC22_chr6_31005474_31040402 | 31026249 | CAGGCTCT others(1067): Show |
C | disruptive_inframe_deletion | MODERATE | HG02027.hp2 HG02135.hp2 |
a0051 | a0051c0054 | a0051c0054t0001 | a0051c0054t0001g0051 | 2 | 461 | 0.0043 | -1074 | 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 | |
| ZKSCAN5_chr7_99499662_99539700 | 99532543 | CAGTCTTC others(1067): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 NA18967.hp2 NA18979.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0016a0001c0001t0025a0004c0009t0016 | a0001c0001t0016g0096a0001c0001t0025g0002a0004c0009t0016g0094 | 3 | 312 | 0.0096 | -1074 | c.*29 others(10): Show |
ZKSCAN5 | ENSG00000196652.12 | transcript | ENST00000326775.10 | protein_coding | 7/7 | 299 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1066): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(85): Show |
a0001a0007a0009others(4): Show | a0001c0002a0001c0003a0001c0005others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(39): Show | a0001c0002t0001g0039a0001c0002t0001g0060a0001c0002t0001g0061others(85): Show | 88 | 248 | 0.3548 | -1073 | 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(1066): Show |
T | intron_variant | MODIFIER | NA18947.hp1 NA18951.hp1 NA18990.hp2 others(3): Show |
a0002 | a0002c0001a0002c0011 | a0002c0001t0002a0002c0011t0002 | a0002c0001t0002g0190a0002c0011t0002g0172a0002c0011t0002g0191others(3): Show | 6 | 248 | 0.0242 | -1073 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DAPK3_chr19_3953453_3976099 | 3973460 | CGGGAGGC others(1066): Show |
C | upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 364 | 0.0028 | -1073 | c.-37 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 2362 | chr19 | TogoVar | ||||||
| EEF2_chr19_3971056_3990463 | 3973460 | CGGGAGGC others(1066): Show |
C | downstream_gene_variant | MODIFIER | NA19055.hp1 | a0003 | a0003c0015 | a0003c0015t0001 | a0003c0015t0001g0094 | 1 | 403 | 0.0025 | -1073 | c.*20 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2595 | chr19 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1013294 | GCAGAGAG others(1066): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0013 | 1 | 190 | 0.0053 | -1073 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCDC200_chr17_43216420_43233623 | 43232551 | AAAGAAAA others(1065): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01243.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0150a0001c0001t0001g0151others(21): Show | 26 | 334 | 0.0778 | -1072 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 3929 | chr17 | TogoVar | ||||||
| CDK11A_chr1_1697379_1729357 | 1724981 | CCCGAGTA others(1065): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02922.hp2 others(1): Show |
a0008 | a0008c0007 | a0008c0007t0007 | a0008c0007t0007g0023a0008c0007t0007g0054a0008c0007t0007g0055 | 4 | 372 | 0.0108 | -1072 | c.-18 others(10): Show |
CDK11A | ENSG00000008128.23 | transcript | ENST00000404249.8 | protein_coding | 625 | chr1 | TogoVar | ||||||
| DAPK3_chr19_3953453_3976099 | 3973026 | CATCCTGG others(1065): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp2 HG03471.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0094a0001c0001t0002g0002a0001c0001t0009g0048 | 3 | 364 | 0.0082 | -1072 | c.-32 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 1928 | chr19 | TogoVar | ||||||
| DAPK3_chr19_3953453_3976099 | 3973097 | TGCCTGTA others(1065): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01256.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(13): Show | 26 | 364 | 0.0714 | -1072 | c.-33 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 1999 | chr19 | TogoVar | ||||||
| EEF2_chr19_3971056_3990463 | 3973026 | CATCCTGG others(1065): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp2 HG03471.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0088a0001c0001t0001g0099a0001c0001t0001g0117others(1): Show | 4 | 403 | 0.0099 | -1072 | c.*24 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 3029 | chr19 | TogoVar | ||||||
| EEF2_chr19_3971056_3990463 | 3973097 | TGCCTGTA others(1065): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01361.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0004g0023a0001c0001t0004g0024others(6): Show | 23 | 403 | 0.0571 | -1072 | c.*23 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2958 | chr19 | TogoVar |