| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GNPTG_chr16_1346931_1369113 | 1356771 | GTCTCCAA others(8137): Show |
G | exon_loss_variant | HIGH | HG02922.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0042 | 1 | 376 | 0.0027 | -8144 | c.178 others(14): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(8111): Show |
C | exon_loss_variant | HIGH | HG03540.hp1 NA18944.hp2 NA19056.hp1 others(2): Show |
a0001a0039a0049 | a0001c0002a0039c0033a0049c0049 | a0001c0002t0001a0001c0002t0003a0039c0033t0001others(1): Show | a0001c0002t0001g0016 a0001c0002t0003g0129 a0039c0033t0001g0106 others(1): Show |
5 | 175 | 0.0286 | -8118 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(8111): Show |
T | exon_loss_variant | HIGH | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0007a0002c0008others(2): Show | a0001c0001t0002a0002c0007t0003a0002c0007t0004others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0240 others(9): Show |
16 | 221 | 0.0724 | -8118 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122602824 | TTAAGATG others(8111): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00639.hp1 others(17): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0036a0002c0008others(5): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(7): Show | a0001c0002t0001g0019 a0001c0002t0001g0133 a0001c0002t0003g0132 others(13): Show |
20 | 227 | 0.0881 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122609025 | GGATTCCC others(8111): Show |
G | exon_loss_variant | HIGH | HG01346.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0085 | 1 | 280 | 0.0036 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DMBT1_chr10_122555754_122648736 | 122609057 | CACCTTTT others(8111): Show |
C | exon_loss_variant | HIGH | NA19060.hp2 NA19081.hp2 |
a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0150 a0001c0023t0001g0151 |
2 | 280 | 0.0071 | -8118 | c.408 others(15): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 34/56 | chr10 | TogoVar | |||||||
| LILRB3_chr19_54211278_54228007 | 54219897 | AAGGGGCT others(8103): Show |
A | exon_loss_variant | HIGH | HG00438.hp1 HG00621.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 6 | 434 | 0.0138 | -8110 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
| MPP7_chr10_28045993_28308064 | 28275654 | GCCTCGGC others(8101): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0280 a0001c0001t0005g0281 |
2 | 298 | 0.0067 | -8108 | c.-13 others(21): Show |
MPP7 | ENSG00000150054.19 | transcript | ENST00000683449.1 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
| ESR1_chr6_151802682_152108274 | 151982534 | GAATGCAG others(8096): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0190 | 1 | 248 | 0.0040 | -8103 | c.109 others(21): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| GOLGA6C_chr15_75253334_75278455 | 75270384 | ATTTATTT others(8064): Show |
A | splice_region_variant | LOW | HG03492.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 a0001c0001t0004g0108 |
2 | 198 | 0.0101 | -8071 | c.*18 others(10): Show |
GOLGA6C | ENSG00000167195.8 | transcript | ENST00000300576.6 | protein_coding | 18/18 | chr15 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1398967 | GCTCCCTC others(8023): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 40 | 0.0250 | -8030 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| TRIM64C_chr11_49048714_49064112 | 49056093 | AAGATCTC others(8012): Show |
A | exon_loss_variant | HIGH | HG01891.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0010 a0004c0005t0001g0016 a0004c0005t0001g0017 |
4 | 410 | 0.0098 | -8019 | c.-50 others(13): Show |
TRIM64C | ENSG00000214891.9 | transcript | ENST00000617704.1 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
| LILRB3_chr19_54211278_54228007 | 54220017 | GACCCCCG others(7983): Show |
G | exon_loss_variant | HIGH | HG02630.hp2 HG02717.hp2 HG02818.hp2 others(1): Show |
a0004a0008 | a0004c0004a0008c0007 | a0004c0004t0002a0008c0007t0010 | a0004c0004t0002g0007 a0008c0007t0010g0013 |
4 | 453 | 0.0088 | -7990 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
| WNK1_chr12_747579_916452 | 757634 | GGTTGTCT others(7976): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01069.hp2 others(24): Show |
a0004a0005a0010others(2): Show | a0004c0004a0004c0020a0005c0027others(3): Show | a0004c0004t0003a0004c0004t0022a0004c0020t0003others(4): Show | a0004c0004t0003g0072 a0004c0004t0003g0073 a0004c0004t0003g0074 others(24): Show |
27 | 282 | 0.0957 | -7983 | c.759 others(18): Show |
WNK1 | ENSG00000060237.19 | transcript | ENST00000315939.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| LILRB3_chr19_54211278_54228007 | 54220028 | CTCACCAG others(7972): Show |
C | exon_loss_variant | HIGH | HG02257.hp1 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 2 | 123 | 0.0163 | -7979 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
| SYNE1_chr6_152116687_152642362 | 152593215 | CAAGAATC others(7970): Show |
C | intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0059 | a0002c0059t0005 | a0002c0059t0005g0088 | 1 | 172 | 0.0058 | -7977 | c.67+ others(17): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
| RABGAP1L_chr1_174154520_175000308 | 174642841 | GTGGTGCA others(7958): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0222 | 1 | 272 | 0.0037 | -7965 | c.182 others(20): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FGF12_chr3_192134390_192732541 | 192587087 | AATTAAAT others(7931): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0069 | 1 | 90 | 0.0111 | -7938 | c.13+ others(19): Show |
FGF12 | ENSG00000114279.15 | transcript | ENST00000445105.7 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
| WHRN_chr9_114397080_114510473 | 114443798 | ACTGCTGA others(7906): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192 | 1 | 328 | 0.0030 | -7913 | c.963 others(19): Show |
WHRN | ENSG00000095397.17 | transcript | ENST00000362057.4 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
| TMEM65_chr8_124301189_124377701 | 124357035 | TCCACCCT others(7884): Show |
T | intron_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0257 | 1 | 346 | 0.0029 | -7891 | c.304 others(18): Show |
TMEM65 | ENSG00000164983.9 | transcript | ENST00000297632.8 | protein_coding | 1/6 | chr8 | TogoVar | |||||||
| NR1H4_chr12_100468866_100569414 | 100542824 | GGTAGATT others(7880): Show |
G | intron_variant | MODIFIER | HG01257.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 |
2 | 306 | 0.0065 | -7887 | c.107 others(19): Show |
NR1H4 | ENSG00000012504.15 | transcript | ENST00000392986.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| HS3ST5_chr6_114050596_114348023 | 114283553 | CTCAGTTA others(7870): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0086 | 1 | 204 | 0.0049 | -7877 | c.-33 others(21): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
| LILRB3_chr19_54211278_54228007 | 54220136 | AGAGGCCT others(7864): Show |
A | exon_loss_variant | HIGH | HG02155.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0033 | 1 | 325 | 0.0031 | -7871 | c.-50 others(13): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
| DPP6_chr7_154047398_154899285 | 154600191 | AATCTCAG others(7845): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG01952.hp1 others(12): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0011others(11): Show | a0001c0003t0007a0001c0006t0002a0001c0011t0003others(12): Show | a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0011t0003g0013 others(12): Show |
15 | 38 | 0.3947 | -7852 | c.627 others(19): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| BOLL_chr2_197721890_197790319 | 197733560 | TATACTAC others(7843): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 326 | 0.0031 | -7850 | c.828 others(17): Show |
BOLL | ENSG00000152430.19 | transcript | ENST00000392296.9 | protein_coding | 10/10 | chr2 | TogoVar | |||||||
| KRTAP4-16_chr17_41096502_41107209 | 41099365 | AAAATGTA others(7837): Show |
A | transcript_ablation | HIGH | NA20300.hp2 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 422 | 0.0024 | -7844 | c.-50 others(11): Show |
p.0? | KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21367471 | CTAACTGG others(7806): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0056 others(15): Show |
18 | 80 | 0.2250 | -7813 | c.62- others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
| RPS6KC1_chr1_213046241_213279774 | 213139099 | TGATTAGT others(7771): Show |
T | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 328 | 0.0030 | -7778 | c.835 others(18): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ACOT7_chr1_6259272_6398767 | 6378109 | ACAAGGCC others(7719): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 a0001c0001t0003g0180 |
2 | 238 | 0.0084 | -7726 | c.143 others(18): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| CELA3B_chr1_21972022_21994354 | 21986630 | AGGAAGCC others(7717): Show |
A | exon_loss_variant | HIGH | HG01243.hp1 HG02257.hp2 HG03098.hp1 others(2): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0027 a0004c0005t0002g0130 a0004c0005t0002g0131 |
5 | 442 | 0.0113 | -7724 | c.743 others(9): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 761/906 | chr1 | TogoVar | ||||||
| MRTFA_chr22_40405289_40641719 | 40477199 | AAATAGCC others(7716): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0224 | 1 | 254 | 0.0039 | -7723 | c.242 others(19): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
| APOBEC3A_chr22_38952609_38968184 | 38960470 | GTCCCTCC others(7707): Show |
G | exon_loss_variant | HIGH | HG01891.hp2 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0042 | 1 | 357 | 0.0028 | -7714 | c.174 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 3/5 | chr22 | TogoVar | |||||||
| PDE11A_chr2_177618244_178077777 | 177851375 | AGGCCTGT others(7704): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0091 | 1 | 164 | 0.0061 | -7711 | c.136 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | |||||||
| SLC10A7_chr4_146248981_146526940 | 146402178 | CATATGTG others(7699): Show |
C | intron_variant | MODIFIER | NA18947.hp1 NA18957.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 a0001c0001t0005g0115 a0001c0001t0005g0116 others(1): Show |
4 | 242 | 0.0165 | -7706 | c.435 others(19): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
| QRFPR_chr4_121323642_121386018 | 121361094 | TAACTCTG others(7695): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG02015.hp2 others(24): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0008 | a0001c0001t0003a0003c0004t0006a0003c0004t0009others(2): Show | a0001c0001t0003g0278 a0003c0004t0006g0319 a0003c0004t0006g0320 others(23): Show |
27 | 382 | 0.0707 | -7702 | c.340 others(19): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1368745 | GGGCCTCA others(7686): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 67 | 0.0149 | -7693 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| OR7C1_chr19_14793515_14840185 | 14804473 | TAATATTC others(7661): Show |
T | splice_acceptor_variant others(5): Show |
HIGH | HG02622.hp1 HG02818.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0106 a0001c0001t0010g0110 a0001c0001t0010g0221 others(1): Show |
4 | 406 | 0.0099 | -7668 | c.-62 others(19): Show |
OR7C1 | ENSG00000127530.4 | transcript | ENST00000641666.2 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
| TMEM184B_chr22_38214291_38278010 | 38259901 | GAGTAGCT others(7650): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 352 | 0.0028 | -7657 | c.-59 others(18): Show |
TMEM184B | ENSG00000198792.13 | transcript | ENST00000361906.8 | protein_coding | 1/8 | chr22 | TogoVar | |||||||
| SCGB2B2_chr19_34585644_34682159 | 34649747 | GGGAGGCT others(7643): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0095a0001c0001t0096others(2): Show | a0001c0001t0017g0208 a0001c0001t0017g0210 a0001c0001t0095g0211 others(3): Show |
6 | 368 | 0.0163 | -7650 | c.-20 others(23): Show |
SCGB2B2 | ENSG00000205209.8 | transcript | ENST00000601241.6 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
| RNF139_chr8_124469880_124493618 | 124480507 | ATGAATTA others(7632): Show |
A | stop_lost others(2): Show |
HIGH | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 406 | 0.0025 | -7639 | c.181 others(13): Show |
p.Gly others(18): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 2/2 | 182/1995 | 61/664 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||
| ZER1_chr9_128724786_128776927 | 128759416 | ATCCGCCC others(7614): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0241 | 1 | 328 | 0.0030 | -7621 | c.-95 others(17): Show |
ZER1 | ENSG00000160445.11 | transcript | ENST00000291900.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
| CADM2_chr3_84953989_86079429 | 85589912 | GGGAAAAT others(7610): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 146 | 0.0068 | -7617 | c.62- others(19): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DET1_chr15_88507480_88551681 | 88538146 | ACTGGTTT others(7581): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 400 | 0.0025 | -7588 | c.-11 others(16): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | |||||||
| RNASE3_chr14_20886385_20897348 | 20889770 | TACTATAG others(7571): Show |
T | transcript_ablation | HIGH | HG02622.hp1 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 420 | 0.0024 | -7578 | c.-16 others(11): Show |
p.0? | RNASE3 | ENSG00000169397.4 | transcript | ENST00000304639.4 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
| LMNTD1_chr12_25471082_25558283 | 25494301 | GAAACTTT others(7570): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0286 |
2 | 386 | 0.0052 | -7577 | c.*22 others(17): Show |
LMNTD1 | ENSG00000152936.11 | transcript | ENST00000458174.7 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4139415 | ACTGGAGG others(7542): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02615.hp2 others(2): Show |
a0001a0002a0004 | a0001c0004a0001c0025a0001c0043others(2): Show | a0001c0004t0063a0001c0025t0003a0001c0043t0031others(2): Show | a0001c0004t0063g0095 a0001c0025t0003g0077 a0001c0043t0031g0044 others(2): Show |
5 | 126 | 0.0397 | -7549 | c.416 others(21): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| KCTD8_chr4_44168903_44453809 | 44321834 | ATGAGTGA others(7541): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03130.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0269 a0001c0001t0004g0231 a0001c0001t0004g0270 others(1): Show |
4 | 294 | 0.0136 | -7548 | c.961 others(21): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
| STPG4_chr2_47081991_47160308 | 47099823 | AGAGCAGC others(7541): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0003c0011t0001 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(1): Show |
4 | 350 | 0.0114 | -7548 | c.520 others(18): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
| STPG4_chr2_47081991_47160308 | 47100164 | TGGGATCC others(7540): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 350 | 0.0029 | -7547 | c.520 others(18): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar | |||||||
| STPG4_chr2_47081991_47160308 | 47100298 | CAGCACCC others(7538): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0346 | 1 | 350 | 0.0029 | -7545 | c.520 others(18): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 5/6 | chr2 | TogoVar |