| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP46_chr10_132803392_132947570 | 132823457 | GTGTGTGC others(944): Show |
G | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 246 | 0.0041 | -951 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
| KCNE2_chr21_34359006_34376381 | 34368419 | CGAAACCC others(944): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0092 | 1 | 434 | 0.0023 | -951 | c.-12 others(17): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| OLFM2_chr19_9848718_9941515 | 9938035 | TTTTTTTT others(944): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 342 | 0.0029 | -951 | c.-26 others(11): Show |
OLFM2 | ENSG00000105088.9 | transcript | ENST00000264833.9 | protein_coding | 1521 | chr19 | TogoVar | ||||||
| USP45_chr6_99427325_99520423 | 99519472 | TATTATTC others(944): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0025 | a0001c0025t0030 | a0001c0025t0030g0266 | 1 | 406 | 0.0025 | -951 | c.-50 others(11): Show |
USP45 | ENSG00000123552.18 | transcript | ENST00000500704.7 | protein_coding | 4050 | chr6 | TogoVar | ||||||
| APOBEC1_chr12_7644400_7670908 | 7647045 | TTGATCTA others(943): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(11): Show |
a0001a0005 | a0001c0002a0005c0006 | a0001c0002t0001a0005c0006t0001 | a0001c0002t0001g0320a0001c0002t0001g0321a0001c0002t0001g0322others(11): Show | 14 | 432 | 0.0324 | -950 | c.*15 others(11): Show |
APOBEC1 | ENSG00000111701.7 | transcript | ENST00000229304.5 | protein_coding | 2354 | chr12 | TogoVar | ||||||
| CBFA2T3_chr16_88869858_88982207 | 88954514 | GCCAAGGC others(943): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0099 | 1 | 284 | 0.0035 | -950 | c.151 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
| CCDC192_chr5_127698391_127946507 | 127836638 | GCAGGCTC others(943): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(135): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(135): Show | 138 | 234 | 0.5897 | -950 | c.411 others(19): Show |
CCDC192 | ENSG00000230561.7 | transcript | ENST00000514853.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240907850 | GCTCTACC others(943): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 350 | 0.0029 | -950 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DPY19L4_chr8_94714900_94798836 | 94773467 | TGTCGCCC others(943): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG01993.hp2 NA18944.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0201others(5): Show | 8 | 290 | 0.0276 | -950 | c.145 others(19): Show |
DPY19L4 | ENSG00000156162.16 | transcript | ENST00000414645.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TFDP3_chrX_133211662_133223354 | 133221216 | CCTGGCTT others(943): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 256 | 0.0039 | -950 | c.-39 others(11): Show |
TFDP3 | ENSG00000183434.10 | transcript | ENST00000310125.5 | protein_coding | 2863 | chrX | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393094 | GGGCAGGT others(943): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0127 | a0001c0002t0127g0042 | 1 | 346 | 0.0029 | -950 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237988 | TTACTCCC others(942): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0046 | 1 | 106 | 0.0094 | -949 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ATAD3A_chr1_1507162_1539685 | 1530816 | GAGACTCC others(942): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0333 | 1 | 420 | 0.0024 | -949 | c.161 others(19): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NDUFS8_chr11_68025681_68041644 | 68034843 | GGCGGATC others(942): Show |
G | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 408 | 0.0025 | -949 | c.373 others(16): Show |
NDUFS8 | ENSG00000110717.13 | transcript | ENST00000313468.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| SRGAP2B_chr1_144882288_145100328 | 144882826 | GCCGTGGG others(942): Show |
G | downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 56 | 0.0179 | -949 | c.*83 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4461 | chr1 | TogoVar | ||||||
| SRGAP2B_chr1_144882288_145100328 | 144882838 | GAAAAGCC others(942): Show |
G | downstream_gene_variant | MODIFIER | HG02129.hp1 HG02523.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0048a0001c0001t0001g0056 | 3 | 56 | 0.0536 | -949 | c.*83 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4449 | chr1 | TogoVar | ||||||
| TCIRG1_chr11_68034025_68055895 | 68034843 | GGCGGATC others(942): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 388 | 0.0026 | -949 | c.-42 others(11): Show |
TCIRG1 | ENSG00000110719.11 | transcript | ENST00000265686.8 | protein_coding | 4181 | chr11 | TogoVar | ||||||
| TMEM240_chr1_1529778_1545624 | 1530816 | GAGACTCC others(942): Show |
G | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -949 | c.*35 others(11): Show |
TMEM240 | ENSG00000205090.10 | transcript | ENST00000378733.9 | protein_coding | 3961 | chr1 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186220 | GGGGAACA others(941): Show |
G | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 350 | 0.0029 | -948 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2769 | chr16 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1740689 | GACAGTCA others(940): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01928.hp1 HG02040.hp1 others(8): Show |
a0003a0011 | a0003c0003a0011c0016 | a0003c0003t0001a0003c0003t0004a0011c0016t0004 | a0003c0003t0001g0003a0003c0003t0001g0007a0003c0003t0001g0015others(6): Show | 11 | 445 | 0.0247 | -947 | c.-22 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2181 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740689 | GACAGTCA others(940): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG02004.hp2 others(8): Show |
a0001a0023 | a0001c0003a0001c0017a0001c0062others(2): Show | a0001c0003t0001a0001c0017t0001a0001c0062t0001others(2): Show | a0001c0003t0001g0003a0001c0017t0001g0003a0001c0062t0001g0079others(2): Show | 11 | 431 | 0.0255 | -947 | c.*30 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2105 | chr17 | TogoVar | ||||||
| ZNF804A_chr2_184593529_184944492 | 184759658 | ATCCCCTG others(940): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0011 | a0011c0021 | a0011c0021t0001 | a0011c0021t0001g0106 | 1 | 204 | 0.0049 | -947 | c.112 others(21): Show |
ZNF804A | ENSG00000170396.9 | transcript | ENST00000302277.7 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 391309 | GGGCCAGA others(939): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG02132.hp1 NA18946.hp1 others(1): Show |
a0001a0002 | a0001c0010a0002c0002a0002c0011 | a0001c0010t0005a0002c0002t0001a0002c0002t0006others(1): Show | a0001c0010t0005g0084a0002c0002t0001g0105a0002c0002t0006g0079others(1): Show | 4 | 268 | 0.0149 | -946 | c.351 others(19): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1429953 | TCAGCAGT others(939): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0017a0002c0002t0022others(1): Show | a0002c0002t0002g0132a0002c0002t0017g0301a0002c0002t0022g0003others(2): Show | 6 | 360 | 0.0167 | -946 | 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 | 1430472 | CCAGCAGT others(939): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0184 | 1 | 360 | 0.0028 | -946 | 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 | 1431297 | CGGTCTGG others(939): Show |
C | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 360 | 0.0028 | -946 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316924 | TGTGTGTA others(939): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 2 | 476 | 0.0042 | -946 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1025626 | CGTCCCAG others(939): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 319 | 0.0031 | -946 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114006366 | TCCCCACT others(939): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 67 | 0.0149 | -946 | c.174 others(18): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar | ||||||
| TEX29_chr13_111315642_111349248 | 111340401 | GTGTTTAG others(939): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0280 | 1 | 416 | 0.0024 | -946 | c.239 others(16): Show |
TEX29 | ENSG00000153495.11 | transcript | ENST00000283547.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(938): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0111 | 1 | 185 | 0.0054 | -945 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240980134 | GCCCAGGC others(938): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 HG02970.hp2 |
a0001a0058 | a0001c0001a0058c0027 | a0001c0001t0003a0058c0027t0003 | a0001c0001t0003g0144a0001c0001t0003g0145a0058c0027t0003g0026 | 3 | 350 | 0.0086 | -945 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| QRICH2_chr17_76269049_76313276 | 76283602 | CGTGGCTC others(938): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(47): Show |
a0002a0004a0005others(10): Show | a0002c0004a0004c0006a0004c0013others(12): Show | a0002c0004t0001a0004c0006t0002a0004c0013t0002others(12): Show | a0002c0004t0001g0276a0004c0006t0002g0027a0004c0006t0002g0028others(46): Show | 50 | 364 | 0.1374 | -945 | c.401 others(19): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | ||||||
| KAZN_chr1_14593685_15123043 | 15000152 | CTGGAAAA others(937): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0122a0001c0001t0010g0040 | 2 | 146 | 0.0137 | -944 | c.419 others(19): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NTM_chr11_131365615_132341822 | 131726330 | GCACAAGT others(937): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0023a0001c0001t0002g0022a0001c0001t0004g0005others(3): Show | 6 | 86 | 0.0698 | -944 | c.83- others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BMP6_chr6_7721099_7886728 | 7781335 | CGTACCAT others(936): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01943.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0002 | a0002c0003t0001g0251a0002c0004t0002g0253 | 2 | 308 | 0.0065 | -943 | c.664 others(19): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
| CACNG4_chr17_66959707_67038398 | 66989011 | AGATCATG others(936): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02055.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0187a0001c0001t0002g0166a0001c0001t0002g0167others(13): Show | 16 | 352 | 0.0455 | -943 | c.220 others(19): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1034591 | GCGAGTGG others(936): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01071.hp1 HG01361.hp1 others(15): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(11): Show | a0001c0002t0001g0019a0001c0002t0002g0021a0001c0002t0006g0011others(15): Show | 18 | 40 | 0.4500 | -943 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LAIR1_chr19_54346384_54369931 | 54368988 | ACTAATTC others(936): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG03486.hp1 others(2): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0003a0001c0001t0008a0001c0001t0032others(1): Show | a0001c0001t0003g0056a0001c0001t0008g0026a0001c0001t0032g0068others(1): Show | 5 | 462 | 0.0108 | -943 | c.-51 others(11): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 4058 | chr19 | TogoVar | ||||||
| OC90_chr8_132019216_132064382 | 132048390 | CTGAGAGC others(936): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0203a0001c0001t0002g0204a0001c0001t0002g0205others(5): Show | 11 | 408 | 0.0270 | -943 | c.47- others(15): Show |
OC90 | ENSG00000253117.5 | transcript | ENST00000254627.4 | protein_coding | 2/13 | chr8 | TogoVar | ||||||
| TCF25_chr16_89868592_89916379 | 89901755 | AAAAAAAA others(936): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0069 | 1 | 300 | 0.0033 | -943 | c.138 others(19): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ASXL2_chr2_25728753_25883487 | 25773618 | ATTACGCC others(935): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0072 | 1 | 222 | 0.0045 | -942 | c.404 others(17): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430118 | GTCTGGTC others(935): Show |
G | intron_variant | MODIFIER | HG03834.hp1 NA20752.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0024a0002c0002t0002 | a0001c0001t0024g0299a0002c0002t0002g0119 | 2 | 360 | 0.0056 | -942 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565657 | GTGACTCT others(935): Show |
G | intron_variant | MODIFIER | NA18990.hp1 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 340 | 0.0059 | -942 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21455821 | ATATATAT others(935): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02055.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0003 | a0001c0001t0001g0031a0001c0001t0001g0037a0001c0001t0001g0064others(4): Show | 7 | 80 | 0.0875 | -942 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1023406 | TGTGGGCG others(935): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 319 | 0.0031 | -942 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
| THBS2_chr6_169210785_169258846 | 169233562 | ACCACACA others(935): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG02683.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004a0001c0016others(2): Show | a0001c0003t0002a0001c0004t0003a0001c0016t0003others(2): Show | a0001c0003t0002g0067a0001c0003t0002g0193a0001c0004t0003g0065others(5): Show | 8 | 396 | 0.0202 | -942 | c.165 others(17): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 10/21 | chr6 | TogoVar | ||||||
| LPIN2_chr18_2911999_3018144 | 2963311 | CAGCCTGC others(934): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0018 | a0001c0018t0093 | a0001c0018t0093g0140 | 1 | 380 | 0.0026 | -941 | c.-9- others(15): Show |
LPIN2 | ENSG00000101577.11 | transcript | ENST00000677752.1 | protein_coding | 1/19 | chr18 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401770 | GCCCCGCT others(934): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0198 | 1 | 216 | 0.0046 | -941 | c.173 others(18): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114006537 | GCCACCTT others(934): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0051 | 2 | 67 | 0.0299 | -941 | c.174 others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 18/23 | chr13 | TogoVar |