| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | a0001c0001t0020g0070a0001c0001t0020g0142a0001c0001t0070g0143others(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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0013others(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 | a0001c0001t0001g0034a0001c0001t0001g0045a0001c0001t0001g0046others(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 | a0001c0001t0001g0007a0001c0001t0001g0042a0001c0001t0001g0051others(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 | a0001c0001t0001g0011a0001c0001t0001g0104a0001c0001t0001g0107others(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 | a0001c0001t0004g0176a0001c0001t0004g0177a0001c0001t0004g0178 | 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 |