| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||||||
| APOBEC3A_chr22_38952609_38968184 | 38962275 | GGCCTTGC others(5902): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00544.hp1 others(34): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0003a0000c0010t0003 | a0000c0004t0003g0004a0000c0004t0003g0045a0000c0004t0003g0050others(2): Show | 37 | 360 | 0.1028 | -5909 | c.585 others(12): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
| APOBEC3A_chr22_38952609_38968184 | 38962391 | TCCCTCCC others(5786): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA19012.hp1 | a0000 | a0000c0004 | a0000c0004t0003 | a0000c0004t0003g0047 | 1 | 360 | 0.0028 | -5793 | c.586 others(13): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
| ATP6V0E1_chr5_172978771_173040445 | 173031700 | TCCCAGCT others(6347): Show |
T | splice_acceptor_variant others(4): Show |
HIGH | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0072 | 1 | 292 | 0.0034 | -6354 | c.*37 others(14): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
| C2orf74_chr2_61157188_61169828 | 61163476 | CGCCTGTA others(4484): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG03195.hp1 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0015 | 1 | 422 | 0.0024 | -4491 | c.390 others(13): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
| CELA3B_chr1_21972022_21994354 | 21989153 | TCCTCTCC others(5194): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01517.hp1 | a0000 | a0000c0018 | a0000c0018t0002 | a0000c0018t0002g0173 | 1 | 444 | 0.0023 | -5201 | c.796 others(13): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CELA3B_chr1_21972022_21994354 | 21989262 | ACCATAGC others(5085): Show |
A | stop_lost others(4): Show |
HIGH | HG01515.hp2 | a0000 | a0000c0019 | a0000c0019t0002 | a0000c0019t0002g0174 | 1 | 444 | 0.0023 | -5092 | c.799 others(9): Show |
p.Ile others(13): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 8/8 | 817/906 | 799/813 | 267/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CTHRC1_chr8_103366538_103387989 | 103382062 | AAGGGCTT others(5711): Show |
A | exon_loss_variant others(5): Show |
HIGH | HG04184.hp2 | a0000 | a0000c0004 | a0000c0004t0004 | a0000c0004t0004g0070 | 1 | 408 | 0.0025 | -5718 | c.590 others(13): Show |
CTHRC1 | ENSG00000164932.13 | transcript | ENST00000330295.10 | protein_coding | 4/4 | chr8 | TogoVar | ||||||
| CXorf51B_chrX_146804771_146815411 | 146810073 | CAAAACCA others(2016): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG06807.hp2 | a0000 | a0000c0006 | a0000c0006t0002 | a0000c0006t0002g0006 | 1 | 272 | 0.0037 | -2023 | c.133 others(12): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 2/2 | chrX | TogoVar | ||||||
| DHRS4_chr14_23948770_23974279 | 23967493 | CTCTGGGA others(6779): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02145.hp2 HG02897.hp1 HG06807.hp1 others(5): Show |
a0000 | a0000c0004a0000c0008 | a0000c0004t0005a0000c0008t0012 | a0000c0004t0005g0026a0000c0004t0005g0139a0000c0004t0005g0142others(4): Show | 8 | 267 | 0.0300 | -6786 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | ||||||
| DHRS4_chr14_23948770_23974279 | 23967497 | GGGAGAAG others(6775): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(13): Show |
a0000 | a0000c0004 | a0000c0004t0005 | a0000c0004t0005g0022a0000c0004t0005g0028a0000c0004t0005g0093others(11): Show | 16 | 267 | 0.0599 | -6782 | c.722 others(13): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 8/8 | chr14 | TogoVar | ||||||
| FFAR3_chr19_35353460_35365489 | 35359023 | CGCCGCCC others(6459): Show |
C | frameshift_variant others(4): Show |
HIGH | HG02602.hp2 | a0000 | a0000c0013 | a0000c0013t0015 | a0000c0013t0015g0001 | 1 | 415 | 0.0024 | -6466 | c.134 others(9): Show |
p.Arg others(4): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 335/1800 | 134/1041 | 45/346 | chr19 | TogoVar | ||
| HBG2_chr11_5248188_5259781 | 5249028 | CGACCATA others(4913): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01123.hp1 HG02132.hp2 |
a0000 | a0000c0002 | a0000c0002t0003 | a0000c0002t0003g0019 | 2 | 430 | 0.0047 | -4920 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| HBG2_chr11_5248188_5259781 | 5249253 | CCCCAACC others(4917): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02004.hp2 | a0000 | a0000c0002 | a0000c0002t0003 | a0000c0002t0003g0040 | 1 | 430 | 0.0023 | -4924 | c.315 others(13): Show |
HBG2 | ENSG00000196565.15 | transcript | ENST00000336906.6 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
| HBZ_chr16_147644_159503 | 154121 | GGCGGGAC others(5375): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG03834.hp2 | a0000 | a0000c0006 | a0000c0006t0005 | a0000c0006t0005g0055 | 1 | 432 | 0.0023 | -5382 | c.300 others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0000 | 11 | 437 | 0.0252 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | chr17 | TogoVar | ||
| MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(15): Show | 31 | 185 | 0.1676 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
| NDUFA7_chr19_8306284_8326375 | 8310729 | CTGGGTAT others(3934): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00621.hp1 | a0000 | a0000c0006 | a0000c0006t0002 | a0000c0006t0002g0121 | 1 | 402 | 0.0025 | -3941 | c.251 others(13): Show |
NDUFA7 | ENSG00000267855.6 | transcript | ENST00000301457.3 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
| NPIPB7_chr16_28451329_28477336 | 28455757 | GCCTCGGC others(835): Show |
G | frameshift_variant others(4): Show |
HIGH | NA18993.hp1 | a0000 | a0000c0044 | a0000c0044t0056 | a0000c0044t0056g0243 | 1 | 382 | 0.0026 | -842 | c.107 others(9): Show |
p.Val others(5): Show |
NPIPB7 | ENSG00000233232.8 | transcript | ENST00000452313.6 | protein_coding | 7/7 | 1070/1245 | 357/414 | chr16 | TogoVar | |||
| OR56B2P_chr11_5756153_5774080 | 5763343 | CACTCTTG others(10730): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00597.hp2 others(56): Show |
a0000 | a0000c0000 | a0000c0000t0002 | a0000c0000t0002g0003a0000c0000t0002g0023 | 59 | 434 | 0.1359 | -10737 | c.2-1 others(12): Show |
OR56B2P | ENSG00000181017.7 | transcript | ENST00000641377.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ORM1_chr9_114318098_114331479 | 114325917 | CCCACTGT others(5555): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG02572.hp1 | a0000 | a0000c0014 | a0000c0014t0004 | a0000c0014t0004g0054 | 1 | 464 | 0.0022 | -5562 | c.541 others(13): Show |
ORM1 | ENSG00000229314.6 | transcript | ENST00000259396.9 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
| PAGE2B_chrX_55070030_55083909 | 55078478 | GTTTTTTT others(5424): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG02257.hp1 | a0000 | a0000c0006 | a0000c0006t0003 | a0000c0006t0003g0033 | 1 | 325 | 0.0031 | -5431 | c.320 others(13): Show |
PAGE2B | ENSG00000238269.9 | transcript | ENST00000374971.2 | protein_coding | 5/5 | chrX | TogoVar | ||||||
| PCDHB2_chr5_141089615_141103703 | 141096905 | CTCGGTGC others(5846): Show |
C | frameshift_variant others(4): Show |
HIGH | HG03579.hp1 | a0000 | a0000c0014 | a0000c0014t0009 | a0000c0014t0009g0000 | 1 | 418 | 0.0024 | -5853 | c.211 others(10): Show |
p.Ser others(5): Show |
PCDHB2 | ENSG00000112852.7 | transcript | ENST00000194155.7 | protein_coding | 1/1 | 2292/4089 | 2116/2397 | 706/798 | chr5 | TogoVar | ||
| PCDHB6_chr5_141145057_141158287 | 141151851 | ACAGACCG others(5740): Show |
A | frameshift_variant others(4): Show |
HIGH | NA19030.hp1 NA19240.hp2 |
a0000 | a0000c0020 | a0000c0020t0013 | a0000c0020t0013g0000 | 2 | 464 | 0.0043 | -5747 | c.159 others(10): Show |
p.Thr others(5): Show |
PCDHB6 | ENSG00000113211.6 | transcript | ENST00000231136.4 | protein_coding | 1/1 | 1796/3231 | 1595/2385 | 532/794 | chr5 | TogoVar | ||
| PCDHB9_chr5_141182161_141196541 | 141187378 | CTGGGGAG others(5227): Show |
C | frameshift_variant others(4): Show |
HIGH | NA19088.hp1 | a0000 | a0000c0024 | a0000c0024t0028 | a0000c0024t0028g0000 | 1 | 458 | 0.0022 | -5234 | c.61_ others(8): Show |
p.Trp others(4): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | 219/4381 | 61/2394 | 21/797 | chr5 | TogoVar | ||
| PCDHB9_chr5_141182161_141196541 | 141188559 | AAGCTGAG others(5227): Show |
A | stop_lost others(4): Show |
HIGH | HG03098.hp1 | a0000 | a0000c0032 | a0000c0032t0028 | a0000c0032t0028g0000 | 1 | 458 | 0.0022 | -5234 | c.124 others(10): Show |
p.Lys others(19): Show |
PCDHB9 | ENSG00000177839.7 | transcript | ENST00000316105.7 | protein_coding | 1/1 | 1400/4381 | 1242/2394 | 414/797 | chr5 | TogoVar | ||
| PGA4_chr11_61217347_61236694 | 61230850 | CTCAACAA others(5837): Show |
C | exon_loss_variant others(5): Show |
HIGH | NA21309.hp1 | a0000 | a0000c0016 | a0000c0016t0005 | a0000c0016t0005g0058 | 1 | 304 | 0.0033 | -5844 | c.101 others(14): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 9/9 | chr11 | TogoVar | ||||||
| PRAMEF4_chr1_12874212_12891201 | 12875534 | CTAGCTAA others(5989): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG01891.hp2 HG02615.hp1 HG02622.hp2 others(2): Show |
a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0010a0000c0007t0005g0074 | 5 | 324 | 0.0154 | -5996 | c.875 others(13): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
| RFPL4AL1_chr19_55764118_55778420 | 55772717 | CGACACTG others(2242): Show |
C | frameshift_variant others(4): Show |
HIGH | HG01993.hp2 | a0000 | a0000c0029 | a0000c0029t0007 | a0000c0029t0007g0001 | 1 | 477 | 0.0021 | -2249 | c.403 others(9): Show |
p.Asp others(5): Show |
RFPL4AL1 | ENSG00000229292.2 | transcript | ENST00000341750.5 | protein_coding | 3/3 | 470/1172 | 403/864 | 135/287 | chr19 | TogoVar | ||
| RGPD3_chr2_106398406_106473413 | 106403070 | ATTAATGA others(2163): Show |
A | exon_loss_variant others(5): Show |
HIGH | NA18980.hp1 | a0000 | a0000c0037 | a0000c0037t0035 | a0000c0037t0035g0053 | 1 | 382 | 0.0026 | -2170 | c.526 others(13): Show |
RGPD3 | ENSG00000153165.19 | transcript | ENST00000409886.4 | protein_coding | 23/23 | 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 | ||||||
| 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 | ||||||
| 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 | ||||||
| SPATA31D4_chr9_81923428_81939998 | 81930205 | TTTTTTTT others(9786): Show |
T | exon_loss_variant others(5): Show |
HIGH | NA20805.hp2 | a0000 | a0000c0003 | a0000c0003t0003 |