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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LHFPL6_chr13_39337892_39608193 | 39484146 | TATCTTCT others(10397): Show |
T | intron_variant | MODIFIER | NA18994.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0183 a0001c0001t0012g0161 |
2 | 242 | 0.0083 | -10404 | c.385 others(21): Show |
LHFPL6 | ENSG00000183722.9 | transcript | ENST00000379589.4 | protein_coding | 2/3 | chr13 | TogoVar | |||||||
PRAMEF4_chr1_12874212_12891201 | 12876473 | TGACCTCG others(10392): Show |
T | transcript_ablation | HIGH | HG00558.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 324 | 0.0031 | -10399 | c.-74 others(10): Show |
p.0? | PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
MAP3K2_chr2_127293668_127392975 | 127346078 | CAAACTTT others(10384): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0112 | 1 | 320 | 0.0031 | -10391 | c.-65 others(18): Show |
MAP3K2 | ENSG00000169967.17 | transcript | ENST00000682094.1 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SMR3A_chr4_70355760_70372158 | 70361864 | TCCAGTAT others(10287): Show |
T | exon_loss_variant | HIGH | HG00544.hp1 | a0000 | a0000c0000 | a0000c0000t0007 | a0000c0000t0007g0040 | 1 | 458 | 0.0022 | -10294 | c.-14 others(13): Show |
SMR3A | ENSG00000109208.5 | transcript | ENST00000226460.5 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
KRTAP2-3_chr17_41054240_41065114 | 41054887 | CGCAGGGG others(10220): Show |
C | transcript_ablation | HIGH | HG01258.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 441 | 0.0023 | -10227 | c.-50 others(11): Show |
p.0? | KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
UBE2O_chr17_76384456_76458152 | 76433748 | GCCAGTGC others(10213): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0078 | 1 | 364 | 0.0028 | -10220 | c.417 others(18): Show |
UBE2O | ENSG00000175931.13 | transcript | ENST00000319380.12 | protein_coding | 1/17 | chr17 | TogoVar | |||||||
CYP2D6_chr22_42121499_42135810 | 42125620 | GGGGTGGG others(10183): Show |
G | transcript_ablation | HIGH | NA21309.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 417 | 0.0024 | -10190 | c.-50 others(10): Show |
p.0? | CYP2D6 | ENSG00000100197.23 | transcript | ENST00000645361.2 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17578938 | GCCTGTAA others(10171): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 400 | 0.0025 | -10178 | c.55+ others(14): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TAFA2_chr12_61703273_62197773 | 61807017 | CAAGCCAG others(10155): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0027others(1): Show | a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0114 others(6): Show |
9 | 220 | 0.0409 | -10162 | c.106 others(19): Show |
TAFA2 | ENSG00000198673.11 | transcript | ENST00000416284.8 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48352125 | GTTTGAGC others(10142): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02055.hp1 HG02922.hp1 HG02965.hp1 |
a0013 | a0013c0006 | a0013c0006t0001 | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 |
3 | 178 | 0.0169 | -10149 | c.103 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 31/62 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25814319 | TTGTTATG others(10132): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 164 | 0.0061 | -10139 | c.734 others(21): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
ADAM22_chr7_87929251_88207889 | 87978867 | TTCTGTGA others(10109): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 230 | 0.0044 | -10116 | c.323 others(17): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15466992 | GGAACCAG others(10092): Show |
G | exon_loss_variant | HIGH | NA18981.hp2 | a0000 | a0000c0010 | a0000c0010t0002 | a0000c0010t0002g0124 | 1 | 430 | 0.0023 | -10099 | c.640 others(13): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
FUT2_chr19_48690971_48710951 | 48697403 | CCTGTAAT others(10070): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03017.hp1 HG04184.hp2 HG04199.hp1 others(1): Show |
a0000 | a0000c0000 | a0000c0000t0013 | a0000c0000t0013g0025 a0000c0000t0013g0079 |
4 | 394 | 0.0102 | -10077 | c.-3+ others(13): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | chr19 | TogoVar | |||||||
LRBA_chr4_150259435_151020284 | 150954410 | GTTCTGTA others(10050): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02622.hp2 others(15): Show |
a0001a0011a0023 | a0001c0001a0001c0014a0001c0032others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0051 a0001c0001t0002g0049 a0001c0001t0002g0170 others(15): Show |
18 | 180 | 0.1000 | -10057 | c.217 others(19): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 2/56 | chr4 | TogoVar | |||||||
CLSTN1_chr1_9723926_9828965 | 9786592 | GAGATTGT others(10034): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01257.hp1 HG01258.hp1 others(22): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007 | a0001c0003t0006a0002c0002t0002a0002c0002t0012others(1): Show | a0001c0003t0006g0096 a0002c0002t0002g0071 a0002c0002t0002g0072 others(22): Show |
25 | 270 | 0.0926 | -10041 | c.92- others(17): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
SLC1A1_chr9_4485468_4592469 | 4526798 | AGTTGTAG others(10012): Show |
A | intron_variant | MODIFIER | NA19003.hp1 NA19057.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0126 a0001c0002t0002g0348 |
2 | 384 | 0.0052 | -10019 | c.92- others(16): Show |
SLC1A1 | ENSG00000106688.12 | transcript | ENST00000262352.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
RFPL4AL1_chr19_55764118_55778420 | 55764937 | TTTTTGTT others(9996): Show |
T | transcript_ablation | HIGH | HG00323.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 477 | 0.0021 | -10003 | c.-42 others(11): Show |
p.0? | RFPL4AL1 | ENSG00000229292.2 | transcript | ENST00000341750.5 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
RFPL4A_chr19_55754097_55768421 | 55757393 | TTGCTTGT others(9995): Show |
T | transcript_ablation | HIGH | HG03688.hp1 HG03831.hp2 NA20905.hp2 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 462 | 0.0065 | -10002 | c.-17 others(11): Show |
p.0? | RFPL4A | ENSG00000223638.4 | transcript | ENST00000434937.3 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
TMEM132C_chr12_128262170_128712911 | 128488676 | AGATATTA others(9987): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0030 | a0030c0076 | a0030c0076t0002 | a0030c0076t0002g0020 | 1 | 170 | 0.0059 | -9994 | c.975 others(19): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
PCDHB9_chr5_141182161_141196541 | 141183909 | TTTCACCC others(9986): Show |
T | transcript_ablation | HIGH | HG03834.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 458 | 0.0022 | -9993 | c.-34 others(11): Show |
p.0? | PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
PSG3_chr19_42716642_42745481 | 42735528 | AGCTAATT others(9946): Show |
A | exon_loss_variant | HIGH | HG01361.hp2 | a0009 | a0009c0011 | a0009c0011t0012 | a0009c0011t0012g0227 | 1 | 368 | 0.0027 | -9953 | c.-50 others(14): Show |
PSG3 | ENSG00000221826.10 | transcript | ENST00000327495.10 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
UBE2Q2_chr15_75838447_75906078 | 75873748 | AGTGGCAC others(9931): Show |
A | exon_loss_variant | HIGH | NA18986.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0053 | 1 | 356 | 0.0028 | -9938 | c.588 others(15): Show |
UBE2Q2 | ENSG00000140367.12 | transcript | ENST00000267938.9 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ATP8A1_chr4_42403373_42662105 | 42480282 | CAGATGAT others(9892): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG01978.hp1 | a0005 | a0005c0010 | a0005c0010t0014 | a0005c0010t0014g0277 | 1 | 310 | 0.0032 | -9899 | c.215 others(19): Show |
ATP8A1 | ENSG00000124406.17 | transcript | ENST00000381668.9 | protein_coding | 25/37 | chr4 | TogoVar | |||||||
NKAIN3_chr8_62243854_62989904 | 62302790 | ATAGGGCT others(9871): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0020a0001c0001t0070a0001c0001t0074others(3): Show | a0001c0001t0020g0070 a0001c0001t0020g0142 a0001c0001t0070g0143 others(4): Show |
7 | 144 | 0.0486 | -9878 | c.54+ others(17): Show |
NKAIN3 | ENSG00000185942.13 | transcript | ENST00000623646.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
KRTAP2-3_chr17_41054240_41065114 | 41055245 | GGAGAGGA others(9862): Show |
G | transcript_ablation | HIGH | HG03239.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 441 | 0.0023 | -9869 | c.-50 others(11): Show |
p.0? | KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
TEX261_chr2_70980942_70999873 | 70990020 | ATTCTGAG others(9846): Show |
A | exon_loss_variant | HIGH | NA18747.hp2 | a0003 | a0003c0008 | a0003c0008t0032 | a0003c0008t0032g0033 | 1 | 432 | 0.0023 | -9853 | c.-51 others(13): Show |
TEX261 | ENSG00000144043.13 | transcript | ENST00000272438.9 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
VKORC1L1_chr7_65868074_65964558 | 65874604 | AAGACCAG others(9824): Show |
A | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0344 | 1 | 350 | 0.0029 | -9831 | c.194 others(18): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRHDE_chr12_72267370_72675758 | 72362632 | CTTGCCCA others(9819): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0005 | a0003c0005t0019 | a0003c0005t0019g0015 | 1 | 158 | 0.0063 | -9826 | c.118 others(20): Show |
TRHDE | ENSG00000072657.10 | transcript | ENST00000261180.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73798635 | AAAATATA others(9792): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 212 | 0.0047 | -9799 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73793084 | AGGGAGAG others(9791): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02622.hp1 HG02630.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0002c0003t0001a0002c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(12): Show |
22 | 212 | 0.1038 | -9798 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73796562 | CGTCTTAC others(9791): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01261.hp2 HG02293.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0046 others(7): Show |
10 | 212 | 0.0472 | -9798 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73797190 | GGCTGACA others(9791): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02896.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0042 a0001c0001t0001g0051 others(1): Show |
5 | 212 | 0.0236 | -9798 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C2orf78_chr2_73779183_73822148 | 73797284 | GAGGCACG others(9791): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp1 HG02896.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0011 a0001c0001t0001g0104 a0001c0001t0001g0107 others(1): Show |
5 | 212 | 0.0236 | -9798 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA31D4_chr9_81923428_81939998 | 81930201 | CTTTTTTT others(9790): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02602.hp2 NA18941.hp2 NA18964.hp2 others(2): Show |
a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0017 | 5 | 360 | 0.0139 | -9797 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
C2orf78_chr2_73779183_73822148 | 73797383 | AAAAAAAA others(9789): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 212 | 0.0047 | -9796 | c.97+ others(16): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA31D4_chr9_81923428_81939998 | 81930202 | TTTTTTTT others(9789): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG02735.hp1 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0075 | 1 | 360 | 0.0028 | -9796 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
GSTCD_chr4_105703784_105852725 | 105786173 | AAGCAATA others(9788): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 |
3 | 186 | 0.0161 | -9795 | c.124 others(21): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA31D4_chr9_81923428_81939998 | 81930203 | TTTTTTTT others(9788): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA18977.hp2 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0048 | 1 | 360 | 0.0028 | -9795 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930204 | TTTTTTTT others(9787): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA18939.hp2 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0076 | 1 | 360 | 0.0028 | -9794 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
ERAP2_chr5_96871500_96924703 | 96912223 | TGCCTTCA others(9786): Show |
T | exon_loss_variant | HIGH | NA18983.hp2 NA19068.hp2 |
a0000 | a0000c0010 | a0000c0010t0014 | a0000c0010t0014g0026 | 2 | 398 | 0.0050 | -9793 | c.235 others(14): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 16/19 | chr5 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930205 | TTTTTTTT others(9786): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA20805.hp2 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0077 | 1 | 360 | 0.0028 | -9793 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930207 | TTTTTTTT others(9784): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG02976.hp1 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0078 | 1 | 360 | 0.0028 | -9791 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
SPATA31D4_chr9_81923428_81939998 | 81930210 | TTTTTTTT others(9781): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG02965.hp2 | a0000 | a0000c0003 | a0000c0003t0003 | a0000c0003t0003g0079 | 1 | 360 | 0.0028 | -9788 | c.293 others(12): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
ALDH6A1_chr14_74051847_74089453 | 74053659 | GGCCTCCC others(9771): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG02602.hp1 | a0000 | a0000c0008 | a0000c0008t0033 | a0000c0008t0033g0277 | 1 | 402 | 0.0025 | -9778 | c.150 others(15): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 12/12 | chr14 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74053659 | GGCCTCCC others(9771): Show |
G | exon_loss_variant | HIGH | HG02602.hp1 | a0000 | a0000c0018 | a0000c0018t0003 | a0000c0018t0003g0175 | 1 | 386 | 0.0026 | -9778 | c.128 others(19): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52039252 | ACTTTTTC others(9742): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 NA18950.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0001g0073 a0001c0001t0001g0152 others(2): Show |
5 | 156 | 0.0321 | -9749 | c.136 others(19): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
PRR20A_chr13_57135918_57148939 | 57139229 | ATTGAGTA others(9703): Show |
A | transcript_ablation | HIGH | HG01361.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 330 | 0.0030 | -9710 | c.-19 others(11): Show |
p.0? | PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 15330300 | GTGATTGT others(9702): Show |
G | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | 24 | 0.0833 | -9709 | c.540 others(20): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72154148 | AAATAGCT others(9676): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01099.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0032 others(15): Show |
18 | 140 | 0.1286 | -9683 | c.472 others(19): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | chr6 | TogoVar |