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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLG1_chr16_74442440_74612114 | 74540008 | TATTTTAT others(86): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0011a0001c0003t0041a0001c0003t0046others(1): Show | a0001c0003t0011g0284a0001c0003t0011g0286a0001c0003t0041g0283others(2): Show | 5 | 342 | 0.0146 | -93 | c.439 others(110): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 1/25 | chr16 | TogoVar | ||||||
GLT1D1_chr12_128848478_128989968 | 128971718 | TCCTCCCT others(86): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 320 | 0.0031 | -93 | c.880 others(112): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
GMDS_chr6_1618806_2250605 | 1897946 | TCCTGGCC others(86): Show |
T | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 166 | 0.0060 | -93 | c.771 others(112): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1898008 | CCCTGGCC others(86): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 166 | 0.0060 | -93 | c.771 others(112): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2622616 | CGCGAGCA others(86): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01261.hp2 HG02165.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0012others(11): Show | a0001c0001t0005g0032a0001c0001t0006g0136a0001c0001t0012g0050others(11): Show | 14 | 206 | 0.0680 | -93 | c.-78 others(112): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
GOLGA6L2_chr15_23434038_23452243 | 23440176 | CTCCTCCT others(86): Show |
C | conservative_inframe_deletion | MODERATE | HG02109.hp2 | a0006 | a0006c0032 | a0006c0032t0010 | a0006c0032t0010g0129 | 1 | 396 | 0.0025 | -93 | c.220 others(102): Show |
p.Arg others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2360/3499 | 2206/2730 | 736/909 | chr15 | TogoVar | ||
GPALPP1_chr13_44984538_45035305 | 45024169 | GTGTGTGT others(86): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01496.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0010a0006c0007t0010 | a0001c0001t0010g0046a0001c0001t0010g0211a0001c0001t0010g0212others(4): Show | 7 | 348 | 0.0201 | -93 | c.805 others(110): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GSG1L_chr16_27782528_28068714 | 27888472 | CTCTCTCT others(86): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 240 | 0.0042 | -93 | c.398 others(110): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
HBM_chr16_160978_171764 | 164825 | GCGGGGCG others(86): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 370 | 0.0054 | -93 | c.-11 others(104): Show |
HBM | ENSG00000206177.7 | transcript | ENST00000356815.4 | protein_coding | 1152 | chr16 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375352 | AATATTTT others(86): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02897.hp1 HG03225.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0014 | a0001c0001t0002g0012a0001c0001t0002g0025a0001c0001t0003g0108others(3): Show | 6 | 226 | 0.0266 | -93 | c.123 others(114): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375383 | AATATTTT others(86): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0034a0001c0001t0001g0051a0001c0001t0001g0065others(38): Show | 41 | 226 | 0.1814 | -93 | c.123 others(114): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375648 | ATTATATA others(86): Show |
A | intron_variant | MODIFIER | HG02622.hp2 NA19080.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0035 | a0001c0001t0001g0011a0003c0003t0035g0220 | 2 | 226 | 0.0089 | -93 | c.123 others(114): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HCN1_chr5_45249948_45701380 | 45375679 | ATTATATA others(86): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0219 | 1 | 226 | 0.0044 | -93 | c.123 others(114): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
HINT3_chr6_125951770_125985244 | 125962219 | TATATATA others(86): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202a0001c0001t0003g0203 | 2 | 268 | 0.0075 | -93 | c.202 others(110): Show |
HINT3 | ENSG00000111911.7 | transcript | ENST00000229633.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HIP1R_chr12_122830457_122867961 | 122850368 | AGTGGCCG others(86): Show |
A | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 348 | 0.0029 | -93 | c.439 others(108): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIP1R_chr12_122830457_122867961 | 122850530 | GCTGGGTG others(86): Show |
G | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0029 | 2 | 348 | 0.0058 | -93 | c.439 others(108): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIP1R_chr12_122830457_122867961 | 122853216 | TTGTCAGG others(86): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp2 HG02735.hp2 others(4): Show |
a0002a0016 | a0002c0002a0002c0009a0016c0015 | a0002c0002t0001a0002c0009t0001a0002c0009t0017others(1): Show | a0002c0002t0001g0046a0002c0002t0001g0058a0002c0002t0001g0062others(4): Show | 7 | 348 | 0.0201 | -93 | c.578 others(108): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 7/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HIP1R_chr12_122830457_122867961 | 122853452 | CGGGCCCT others(86): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0206a0003c0003t0002g0023a0003c0003t0002g0079others(4): Show | 8 | 348 | 0.0230 | -93 | c.578 others(108): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 7/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HNMT_chr2_137959473_138021364 | 137978510 | TATATAAT others(86): Show |
T | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 332 | 0.0030 | -93 | c.190 others(110): Show |
HNMT | ENSG00000150540.14 | transcript | ENST00000280097.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10376827 | ATACAATA others(86): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0032 | 1 | 314 | 0.0032 | -93 | c.-11 others(114): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IPCEF1_chr6_154149496_154361803 | 154357817 | AAAATATA others(86): Show |
A | upstream_gene_variant | MODIFIER | HG02132.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0130a0001c0001t0007g0259 | 2 | 264 | 0.0076 | -93 | c.-13 others(104): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1015 | chr6 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43790614 | CGGTATGG others(86): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp1 HG03017.hp2 HG03927.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004 | 4 | 354 | 0.0113 | -93 | c.*39 others(104): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 1074 | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43790892 | ATGGTATG others(86): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0158 | 1 | 354 | 0.0028 | -93 | c.*41 others(104): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 1352 | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43790985 | GTGGTATG others(86): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02723.hp2 HG02886.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0008a0002c0002t0019 | a0002c0002t0006g0061a0002c0002t0006g0062a0002c0002t0006g0137others(3): Show | 6 | 354 | 0.0170 | -93 | c.*42 others(104): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 1445 | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43791133 | AATCACAT others(86): Show |
A | downstream_gene_variant | MODIFIER | HG01934.hp1 HG02300.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0006 | 3 | 354 | 0.0085 | -93 | c.*44 others(104): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 1593 | chr12 | TogoVar | ||||||
IRF7_chr11_607555_620950 | 618683 | TTGGTTGG others(86): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp2 HG03471.hp1 NA18522.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009a0002c0002t0001g0004 | 4 | 407 | 0.0098 | -93 | c.-31 others(104): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 2734 | chr11 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134434 | AATATATA others(86): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0079 | a0001c0007t0079g0183 | 1 | 338 | 0.0030 | -93 | c.117 others(114): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
KCNA6_chr12_4804334_4818318 | 4812830 | TCAAGCAA others(86): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0000 | 1 | 450 | 0.0022 | -93 | c.*12 others(104): Show |
KCNA6 | ENSG00000151079.8 | transcript | ENST00000280684.4 | protein_coding | 1/1 | 1200 | chr12 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79830880 | TACAGAGC others(86): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02055.hp1 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0080a0001c0001t0001g0219others(1): Show | 4 | 312 | 0.0128 | -93 | c.-11 others(114): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79831469 | GACAGAGC others(86): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0073others(2): Show | 5 | 312 | 0.0160 | -93 | c.-11 others(114): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNIP4_chr4_20723606_21953772 | 21528718 | AGAAAGAA others(86): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 80 | 0.0125 | -93 | c.61+ others(112): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20681173 | GGCAAAAA others(86): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0023 | a0023c0082 | a0023c0082t0001 | a0023c0082t0001g0264 | 1 | 414 | 0.0024 | -93 | c.246 others(112): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169753069 | AAATATAT others(86): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02965.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0018a0001c0001t0026g0165 | 3 | 400 | 0.0075 | -93 | c.*33 others(104): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 1192 | chr2 | TogoVar | ||||||
LCN15_chr9_136754634_136769518 | 136769245 | CCCCCCCC others(86): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 | 1 | 356 | 0.0028 | -93 | c.-48 others(104): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4728 | chr9 | TogoVar | ||||||
LIPC_chr15_58426991_58574844 | 58493539 | ATATACAA others(86): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0042 | 1 | 358 | 0.0028 | -93 | c.89- others(110): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
LMF1_chr16_848634_975984 | 903017 | GCCTGTCT others(86): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(119): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(35): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(46): Show | a0001c0001t0001g0024a0001c0001t0001g0170a0001c0002t0001g0021others(119): Show | 122 | 294 | 0.4150 | -93 | c.663 others(110): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 903662 | AGGACGCC others(86): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02451.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0012a0001c0020 | a0001c0012t0001a0001c0020t0001 | a0001c0012t0001g0097a0001c0012t0001g0098a0001c0012t0001g0101others(2): Show | 5 | 294 | 0.0170 | -93 | c.663 others(110): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 904588 | GGGACGCC others(86): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(116): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0004others(34): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(45): Show | a0001c0001t0001g0024a0001c0001t0001g0170a0001c0002t0001g0021others(116): Show | 119 | 294 | 0.4048 | -93 | c.663 others(110): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
LPP_chr3_188149157_188895671 | 188785422 | CATATATA others(86): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 |
a0002 | a0002c0008 | a0002c0008t0027a0002c0008t0060 | a0002c0008t0027g0042a0002c0008t0060g0015 | 2 | 76 | 0.0263 | -93 | c.141 others(114): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LRBA_chr4_150259435_151020284 | 150658509 | CCCTCTCC others(86): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 180 | 0.0056 | -93 | c.592 others(114): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
LRCH1_chr13_46548170_46749898 | 46735844 | TGGAGTGC others(86): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0158 | 1 | 274 | 0.0037 | -93 | c.208 others(112): Show |
LRCH1 | ENSG00000136141.15 | transcript | ENST00000389797.8 | protein_coding | 19/19 | chr13 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747062 | CGCACGGC others(86): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 374 | 0.0027 | -93 | c.337 others(110): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747090 | GCCCGCAC others(86): Show |
G | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 374 | 0.0027 | -93 | c.337 others(110): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747121 | GCCCGCAC others(86): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02717.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0150a0001c0001t0001g0246 | 3 | 374 | 0.0080 | -93 | c.337 others(110): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747400 | GCCCGCAC others(86): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG01168.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0167a0001c0001t0002g0006a0001c0001t0002g0012others(6): Show | 12 | 374 | 0.0321 | -93 | c.337 others(108): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747462 | GCCCGCAC others(86): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00673.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0027others(12): Show | 19 | 374 | 0.0508 | -93 | c.337 others(108): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747710 | CCCCGCAC others(86): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 374 | 0.0027 | -93 | c.337 others(108): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248747958 | CCCCGCAC others(86): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0248 | 1 | 374 | 0.0027 | -93 | c.337 others(108): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1861395 | TCACTGCT others(86): Show |
T | intron_variant | MODIFIER | HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0262a0001c0001t0006g0263 | 2 | 264 | 0.0076 | -93 | c.199 others(114): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19237572 | ATATAATT others(86): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp2 others(6): Show |
a0002a0015a0029others(6): Show | a0002c0039a0015c0016a0029c0021others(6): Show | a0002c0039t0001a0015c0016t0001a0029c0021t0002others(6): Show | a0002c0039t0001g0134a0015c0016t0001g0096a0029c0021t0002g0092others(6): Show | 9 | 152 | 0.0592 | -93 | c.299 others(114): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |