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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM132C_chr12_128262170_128712911 | 128488676 | AGATATTA others(9987): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0019 | a0019c0076 | a0019c0076t0002 | a0019c0076t0002g0019 | 1 | 168 | 0.0060 | -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 | a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 1 | 456 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 366 | 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 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0064 | 1 | 354 | 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 | a0005c0010t0014g0276 | 1 | 308 | 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 | a0005 | a0005c0000 | a0005c0000t0000 | a0005c0000t0000g0000 | 1 | 398 | 0.0025 | -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 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0020 | 1 | 430 | 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 | a0001c0001t0006g0338 | 1 | 348 | 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 | 156 | 0.0064 | -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 | a0001c0001t0001g0059 | 1 | 209 | 0.0048 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0052 others(5): Show |
22 | 210 | 0.1048 | -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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(1): Show |
10 | 199 | 0.0503 | -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 | a0001c0001t0001g0005 | 5 | 210 | 0.0238 | -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 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0002c0003t0001g0033 |
5 | 210 | 0.0238 | -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 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 5 | 41 | 0.1220 | -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 | a0001c0001t0001g0001 | 1 | 207 | 0.0048 | -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 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 358 | 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 | 184 | 0.0163 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 358 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 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 |
a0009 | a0009c0010 | a0009c0010t0003 | a0009c0010t0003g0039 | 2 | 396 | 0.0051 | -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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 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 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 358 | 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 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0200 | 1 | 400 | 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 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0161 | 1 | 384 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0153 others(2): Show |
5 | 154 | 0.0325 | -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 | a0005 | a0005c0000 | a0005c0000t0000 | a0005c0000t0000g0000 | 1 | 328 | 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(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0017 a0001c0002t0001g0032 a0001c0002t0001g0034 others(14): Show |
17 | 138 | 0.1232 | -9683 | c.472 others(19): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | chr6 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92356984 | TGCATTAG others(9664): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0037 |
2 | 42 | 0.0476 | -9671 | c.156 others(23): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCDHGA10_chr5_141407987_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | exon_loss_variant others(1): Show |
HIGH | NA19082.hp1 | a0014 | a0014c0022 | a0014c0022t0018 | a0014c0022t0018g0001 | 1 | 302 | 0.0033 | -9657 | c.-47 others(15): Show |
PCDHGA10 | ENSG00000253846.3 | transcript | ENST00000398610.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 264 | 0.0038 | -9657 | c.242 others(21): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0247 | 1 | 268 | 0.0037 | -9657 | c.242 others(21): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA6_chr5_141368891_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 288 | 0.0035 | -9657 | c.242 others(21): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA7_chr5_141377742_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0042 | 1 | 288 | 0.0035 | -9657 | c.242 others(21): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA8_chr5_141387633_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0161 | 1 | 298 | 0.0034 | -9657 | c.242 others(21): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 292 | 0.0034 | -9657 | c.241 others(21): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0010 | a0010c0020 | a0010c0020t0003 | a0010c0020t0003g0096 | 1 | 290 | 0.0034 | -9657 | c.239 others(21): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0034 | 1 | 296 | 0.0034 | -9657 | c.239 others(20): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA19082.hp2 | a0014 | a0014c0023 | a0014c0023t0003 | a0014c0023t0003g0001 | 1 | 298 | 0.0034 | -9657 | c.238 others(13): Show |
p.Glu others(12): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/4 | 420/4777 | 238/2793 | 80/930 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
CPVL_chr7_28990235_29151537 | 29019647 | TGTGTGTC others(9590): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0206 | 1 | 280 | 0.0036 | -9597 | c.132 others(20): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
EYA2_chr20_46889843_47193844 | 47150459 | GCGGCTTC others(9582): Show |
G | intron_variant | MODIFIER | HG02523.hp2 NA18990.hp2 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087 a0001c0001t0001g0139 a0001c0001t0001g0193 others(2): Show |
5 | 236 | 0.0212 | -9589 | c.978 others(17): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110413516 | ATGTACCC others(9572): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03139.hp1 |
a0004a0005 | a0004c0089a0005c0092 | a0004c0089t0001a0005c0092t0001 | a0004c0089t0001g0090 a0005c0092t0001g0089 |
2 | 360 | 0.0056 | -9579 | c.597 others(19): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 36/47 | chr9 | TogoVar | |||||||
FMO5_chr1_147181261_147230339 | 147189008 | GCTCATGC others(9568): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02451.hp2 HG03225.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 2 | 406 | 0.0049 | -9575 | c.118 others(19): Show |
FMO5 | ENSG00000131781.13 | transcript | ENST00000254090.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
TPSAB1_chr16_1235705_1247554 | 1237931 | AGCCCTGT others(9565): Show |
A | transcript_ablation | HIGH | NA18972.hp1 NA19081.hp2 NA21309.hp1 |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 3 | 288 | 0.0104 | -9572 | c.-27 others(11): Show |
p.0? | TPSAB1 | ENSG00000172236.19 | transcript | ENST00000338844.8 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32050628 | TTATGTTC others(9563): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 126 | 0.0079 | -9570 | c.643 others(21): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
TSC22D1_chr13_44427143_44581330 | 44515602 | TAATTTTG others(9557): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 238 | 0.0042 | -9564 | c.291 others(21): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
PPP1R9A_chr7_94902594_95301400 | 95082384 | CTGTGTAA others(9534): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0153 | 1 | 288 | 0.0035 | -9541 | c.139 others(21): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |