| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCA10_chr17_69143007_69233824 | 69154324 | C | CACCTGGA others(1): Show |
frameshift_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0005a0006a0007 | a0005c0005a0006c0007a0006c0016others(1): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(4): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(32): Show | 36 | 348 | 0.1035 | 8 | c.369 others(19): Show |
p.Glu others(6): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 31/39 | 4252/6008 | 3696/4632 | 1232/1543 | chr17 | TogoVar | ||
| ABCA10_chr17_69143007_69233824 | 69193976 | AAT | A | frameshift_variant | HIGH | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show |
a0005a0006a0007others(1): Show | a0005c0005a0006c0007a0006c0016others(2): Show | a0005c0005t0004a0005c0005t0015a0006c0007t0004others(5): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(33): Show | 37 | 348 | 0.1063 | -2 | c.135 others(11): Show |
p.Ile others(5): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 13/39 | 1914/6008 | 1357/4632 | 453/1543 | chr17 | TogoVar | ||
| ABHD14B_chr3_51963515_51979049 | 51971622 | G | A | stop_gained | HIGH | HG01243.hp2 HG02622.hp1 HG02717.hp1 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004a0002c0002t0003g0041a0002c0002t0003g0043 | 10 | 324 | 0.0309 | 0 | c.49C others(2): Show |
p.Gln others(3): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 2/4 | 162/1657 | 49/633 | 17/210 | chr3 | TogoVar | ||
| ACTN3_chr11_66541903_66568334 | 66560624 | C | T | stop_gained | HIGH | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(147): Show |
a0002a0011a0013others(1): Show | a0002c0002a0002c0008a0002c0011others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0008t0001others(8): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0010others(67): Show | 150 | 400 | 0.3750 | 0 | c.172 others(4): Show |
p.Arg others(4): Show |
ACTN3 | ENSG00000248746.6 | transcript | ENST00000513398.2 | protein_coding | 15/21 | 1764/2882 | 1729/2706 | 577/901 | chr11 | TogoVar | ||
| ADAMTS14_chr10_70667506_70767441 | 70734029 | G | A | splice_donor_variant others(1): Show |
HIGH | HG03041.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0218 | 1 | 354 | 0.0028 | 0 | c.135 others(6): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 8/21 | chr10 | TogoVar | ||||||
| ADGRD2_chr9_124445451_124483580 | 124456620 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG03041.hp1 NA18522.hp2 |
a0043a0049 | a0043c0094a0049c0066 | a0043c0094t0002a0049c0066t0002 | a0043c0094t0002g0220a0049c0066t0002g0085 | 2 | 404 | 0.0050 | 0 | c.142 others(6): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 9/24 | chr9 | TogoVar | ||||||
| ADGRE1_chr19_6882579_6945450 | 6921702 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show |
a0004a0006a0007others(24): Show | a0004c0004a0006c0006a0007c0007others(24): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0004others(40): Show | a0004c0004t0001g0033a0004c0004t0001g0049a0004c0004t0001g0066others(87): Show | 91 | 338 | 0.2692 | 1 | c.162 others(7): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| AGAP3_chr7_151081475_151149434 | 151086813 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(332): Show | 344 | 354 | 0.9718 | 1 | c.73d others(3): Show |
p.Ala others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 341/3494 | 74/2736 | 25/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086821 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.81d others(3): Show |
p.Gln others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 349/3494 | 82/2736 | 28/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AGAP3_chr7_151081475_151149434 | 151086831 | C | CG | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(350): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(341): Show | 353 | 354 | 0.9972 | 1 | c.91d others(3): Show |
p.Val others(4): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/18 | 359/3494 | 92/2736 | 31/911 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| AIFM1_chrX_130124362_130170841 | 130156498 | AG | A | frameshift_variant | HIGH | HG03041.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0036 | 1 | 262 | 0.0038 | -1 | c.211 others(4): Show |
p.Ile others(4): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/16 | 396/2222 | 211/1842 | 71/613 | chrX | TogoVar | ||
| AIFM1_chrX_130124362_130170841 | 130156503 | T | TA | frameshift_variant | HIGH | HG03041.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0036 | 1 | 262 | 0.0038 | 1 | c.206 others(4): Show |
p.Leu others(4): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/16 | 391/2222 | 206/1842 | 69/613 | chrX | TogoVar | ||
| AIFM1_chrX_130124362_130170841 | 130156575 | A | AG | frameshift_variant | HIGH | HG03041.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0036 | 1 | 262 | 0.0038 | 1 | c.134 others(4): Show |
p.Leu others(4): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/16 | 319/2222 | 134/1842 | 45/613 | chrX | TogoVar | ||
| AKR1C1_chr10_4958415_4988283 | 4966960 | C | T | stop_gained | HIGH | HG03041.hp1 | a0004 | a0004c0011 | a0004c0011t0065 | a0004c0011t0065g0007 | 1 | 426 | 0.0024 | 0 | c.286 others(3): Show |
p.Arg others(3): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3/9 | 316/6543 | 286/972 | 96/323 | chr10 | TogoVar | ||
| ALDH3B2_chr11_67657155_67679623 | 67674435 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0007a0001c0009others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(194): Show | 373 | 390 | 0.9564 | 0 | c.-24 others(6): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| ALG1L2_chr3_130076831_130103390 | 130096091 | GC | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(48): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0002c0007others(6): Show | a0002c0002t0001a0002c0004t0001a0002c0004t0002others(8): Show | a0002c0002t0001g0005a0002c0002t0001g0008a0002c0002t0001g0019others(33): Show | 51 | 261 | 0.1954 | -1 | c.469 others(4): Show |
p.Leu others(5): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 6/8 | 655/969 | 469/648 | 157/215 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| AMD1_chr6_110869785_110900713 | 110892724 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(206): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(77): Show | 209 | 394 | 0.5305 | 1 | c.616 others(6): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ANKDD1B_chr5_75606453_75676846 | 75669297 | G | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(139): Show |
a0001a0006a0007others(10): Show | a0001c0001a0001c0019a0001c0035others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(122): Show | 142 | 372 | 0.3817 | 0 | c.143 others(4): Show |
p.Trp others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 13/14 | 1621/2575 | 1439/1587 | 480/528 | chr5 | TogoVar | ||
| ANKMY1_chr2_240474422_240562988 | 240557353 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00733.hp2 HG01109.hp2 others(24): Show |
a0001a0003a0006 | a0001c0006a0003c0004a0003c0010others(2): Show | a0001c0006t0001a0003c0004t0001a0003c0010t0001others(2): Show | a0001c0006t0001g0274a0001c0006t0001g0276a0003c0004t0001g0253others(24): Show | 27 | 320 | 0.0844 | 0 | c.-17 others(5): Show |
ANKMY1 | ENSG00000144504.16 | transcript | ENST00000401804.6 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
| ANKRD36_chr2_97108153_97269521 | 97207905 | TTTATTAT others(1859): Show |
T | exon_loss_variant | HIGH | HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show |
a0002a0004a0011others(7): Show | a0002c0002a0004c0005a0004c0024others(8): Show | a0002c0002t0001a0002c0002t0002a0004c0005t0004others(11): Show | a0002c0002t0001g0017a0002c0002t0001g0052a0002c0002t0001g0053others(46): Show | 49 | 212 | 0.2311 | -1866 | c.319 others(15): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 54/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANKRD36_chr2_97108153_97269521 | 97224796 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(144): Show |
a0000a0001a0002others(32): Show | a0000c0016a0001c0001a0001c0036others(40): Show | a0000c0016t0006a0001c0001t0001a0001c0001t0002others(46): Show | a0000c0016t0006g0018a0000c0016t0006g0076a0000c0016t0006g0108others(144): Show | 147 | 212 | 0.6934 | 1 | c.387 others(7): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 66/75 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ANKRD36_chr2_97108153_97269521 | 97264169 | TAGCATTG others(84): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp1 HG00423.hp1 HG00597.hp2 others(64): Show |
a0001a0002a0004others(17): Show | a0001c0001a0001c0046a0002c0002others(20): Show | a0001c0001t0002a0001c0046t0002a0002c0002t0002others(22): Show | a0001c0001t0002g0020a0001c0001t0002g0021a0001c0001t0002g0022others(64): Show | 67 | 212 | 0.3160 | -91 | c.*7- others(100): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 76/76 | 14097 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| ANO7_chr2_241183677_241230976 | 241223950 | TCA | T | frameshift_variant | HIGH | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
a0006a0009a0029 | a0006c0006a0006c0018a0009c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0009others(9): Show | a0006c0006t0001g0007a0006c0006t0001g0106a0006c0006t0001g0261others(29): Show | 32 | 396 | 0.0808 | -2 | c.257 others(11): Show |
p.Ser others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 24/25 | 2676/4560 | 2579/2640 | 860/879 | chr2 | TogoVar | ||
| APH1A_chr1_150260404_150274016 | 150267790 | C | CTGGGG | splice_acceptor_variant others(1): Show |
HIGH | HG02451.hp1 HG02572.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0015 | 9 | 440 | 0.0205 | 5 | c.285 others(16): Show |
APH1A | ENSG00000117362.13 | transcript | ENST00000369109.8 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| APOL4_chr22_36184128_36206809 | 36201698 | A | C | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0028a0002c0002t0002others(10): Show | a0001c0001t0001g0004a0001c0001t0001g0030a0001c0001t0001g0031others(30): Show | 58 | 434 | 0.1336 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
| APOL5_chr22_35712872_35734483 | 35726318 | C | T | stop_gained | HIGH | HG02809.hp2 HG03041.hp2 |
a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0078a0007c0009t0003g0083 | 2 | 401 | 0.0050 | 0 | c.250 others(3): Show |
p.Arg others(3): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 3/5 | 250/1438 | 250/1302 | 84/433 | chr22 | TogoVar | ||
| AS3MT_chr10_102864470_102906899 | 102869497 | TCCTGAGT others(29): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00099.hp1 HG00544.hp1 HG00597.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0007others(163): Show | 173 | 362 | 0.4779 | -36 | c.-19 others(44): Show |
p.Met others(3): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 1/11 | 105/2450 | 1/1128 | 1/375 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| ATP5MK_chr10_103384050_103401475 | 103392467 | CTT | C | splice_acceptor_variant others(2): Show |
HIGH | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0047 | 11 | 438 | 0.0251 | -2 | c.-9- others(11): Show |
ATP5MK | ENSG00000173915.16 | transcript | ENST00000369815.6 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
| BRIX1_chr5_34910711_34930996 | 34925207 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 80 | 440 | 0.1818 | 1 | c.793 others(6): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| C13orf46_chr13_113948705_113979076 | 113968465 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(115): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(241): Show | 406 | 414 | 0.9807 | 0 | c.456 others(5): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 4/6 | chr13 | TogoVar | ||||||
| C16orf96_chr16_4551340_4605758 | 4576436 | C | G | stop_gained | HIGH | HG03041.hp2 | a0022 | a0022c0036 | a0022c0036t0002 | a0022c0036t0002g0014 | 1 | 278 | 0.0036 | 0 | c.195 others(4): Show |
p.Tyr others(4): Show |
C16orf96 | ENSG00000205832.8 | transcript | ENST00000444310.5 | protein_coding | 5/16 | 2106/4017 | 1956/3426 | 652/1141 | chr16 | TogoVar | ||
| C17orf107_chr17_4894536_4907934 | 4900416 | G | A | stop_gained | HIGH | HG00099.hp2 HG00639.hp2 HG00741.hp2 others(91): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(4): Show | a0002c0002t0001g0001a0002c0002t0002g0001a0002c0002t0006g0001others(4): Show | 94 | 442 | 0.2127 | 0 | c.456 others(3): Show |
p.Trp others(4): Show |
C17orf107 | ENSG00000205710.4 | transcript | ENST00000381365.4 | protein_coding | 3/3 | 683/3201 | 456/573 | 152/190 | chr17 | TogoVar | ||
| C2orf50_chr2_11128128_11156317 | 11133332 | A | AC | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(32): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0039others(59): Show | 77 | 380 | 0.2026 | 1 | c.-1d others(3): Show |
p.Met others(3): Show |
C2orf50 | ENSG00000150873.12 | transcript | ENST00000381585.8 | protein_coding | 1/3 | 208/7902 | 1/489 | 1/162 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| C2orf78_chr2_73779183_73822148 | 73783350 | GATTCAAG others(4884): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01167.hp1 HG02258.hp1 HG02280.hp2 others(3): Show |
a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0001a0003c0002t0002g0021 | 6 | 212 | 0.0283 | -4891 | c.-95 others(12): Show |
C2orf78 | ENSG00000187833.8 | transcript | ENST00000409561.2 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
| C6orf52_chr6_10666422_10699616 | 10694492 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00544.hp1 HG01243.hp2 HG02055.hp2 others(27): Show |
a0002a0003 | a0002c0002a0002c0003a0003c0004 | a0002c0002t0002a0002c0003t0002a0002c0003t0004others(1): Show | a0002c0002t0002g0041a0002c0002t0002g0042a0002c0003t0002g0017others(23): Show | 30 | 284 | 0.1056 | 0 | c.-12 others(5): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
| CABYR_chr18_24134062_24166600 | 24160067 | CTG | C | frameshift_variant others(2): Show |
HIGH | HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show |
a0003 | a0003c0012a0003c0015a0003c0033 | a0003c0012t0001a0003c0015t0001a0003c0033t0001 | a0003c0012t0001g0015a0003c0012t0001g0104a0003c0012t0001g0105others(5): Show | 10 | 408 | 0.0245 | -2 | c.113 others(11): Show |
p.Ter others(5): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 5/6 | 1219/1305 | 1138/1140 | 380/379 | chr18 | TogoVar | ||
| CACNB2_chr10_18135424_18548557 | 18150879 | T | TTTTTG | splice_acceptor_variant others(1): Show |
HIGH | HG02040.hp2 HG03041.hp1 HG03492.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0171a0001c0001t0004g0163a0001c0001t0004g0165others(5): Show | 8 | 200 | 0.0400 | 5 | c.121 others(16): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CAPN11_chr6_44153820_44189401 | 44172317 | T | TGGCTGCC | frameshift_variant | HIGH | HG00323.hp1 HG01167.hp1 HG01167.hp2 others(18): Show |
a0005a0018 | a0005c0006a0005c0010a0018c0021 | a0005c0006t0001a0005c0006t0002a0005c0006t0003others(3): Show | a0005c0006t0001g0209a0005c0006t0001g0387a0005c0006t0002g0210others(18): Show | 21 | 460 | 0.0457 | 7 | c.426 others(14): Show |
p.Ile others(5): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 5/23 | 462/2718 | 433/2220 | 145/739 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| CAPN15_chr16_522712_559636 | 536144 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(29): Show | a0001c0001t0001g0017a0001c0001t0001g0350a0001c0001t0001g0362others(41): Show | 46 | 410 | 0.1122 | 0 | c.-23 others(5): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | chr16 | TogoVar | ||||||
| CBLC_chr19_44772890_44805652 | 44793589 | A | AC | frameshift_variant | HIGH | HG00738.hp2 HG01123.hp1 HG01884.hp1 others(44): Show |
a0000 | a0000c0002a0000c0004a0000c0007others(1): Show | a0000c0002t0001a0000c0004t0001a0000c0007t0001others(1): Show | a0000c0002t0001g0012a0000c0002t0001g0013a0000c0002t0001g0032others(41): Show | 47 | 344 | 0.1366 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 8/11 | 1298/1576 | 1256/1425 | 419/474 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| CBS_chr21_43048191_43080835 | 43063074 | A | ATGATCTG others(61): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show |
a0002a0008 | a0002c0003a0008c0015 | a0002c0003t0001a0002c0003t0003a0002c0003t0004others(2): Show | a0002c0003t0001g0110a0002c0003t0001g0175a0002c0003t0003g0119others(26): Show | 40 | 298 | 0.1342 | 68 | c.832 others(75): Show |
p.Ile others(5): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/17 | 982/2495 | 832/1656 | 278/551 | chr21 | TogoVar | ||
| CCDC153_chr11_119185254_119200841 | 119193862 | G | A | stop_gained | HIGH | HG01884.hp1 HG02055.hp1 HG02109.hp1 others(5): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0051a0004c0005t0001g0105a0004c0005t0001g0106others(4): Show | 8 | 428 | 0.0187 | 0 | c.160 others(3): Show |
p.Arg others(3): Show |
CCDC153 | ENSG00000248712.8 | transcript | ENST00000503566.7 | protein_coding | 4/7 | 215/734 | 160/633 | 54/210 | chr11 | TogoVar | ||
| CCL20_chr2_227808842_227822556 | 227815437 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0031others(4): Show | 30 | 448 | 0.0670 | 1 | c.77- others(5): Show |
CCL20 | ENSG00000115009.13 | transcript | ENST00000358813.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CCT8L2_chr22_16585751_16597810 | 16591457 | C | T | stop_gained | HIGH | HG01358.hp1 HG01884.hp1 HG02280.hp2 others(1): Show |
a0003a0007 | a0003c0004a0007c0012 | a0003c0004t0001a0007c0012t0001 | a0003c0004t0001g0000a0007c0012t0001g0000 | 4 | 432 | 0.0093 | 0 | c.109 others(4): Show |
p.Trp others(4): Show |
CCT8L2 | ENSG00000198445.4 | transcript | ENST00000359963.4 | protein_coding | 1/1 | 1354/2060 | 1094/1674 | 365/557 | chr22 | TogoVar | ||
| CD200R1L_chr3_112810711_112851864 | 112827063 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(46): Show |
a0003 | a0003c0004a0003c0006 | a0003c0004t0001a0003c0006t0001 | a0003c0004t0001g0004a0003c0004t0001g0005a0003c0004t0001g0019others(25): Show | 49 | 408 | 0.1201 | -1 | c.545 others(4): Show |
p.His others(5): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 6/8 | 1143/1603 | 545/753 | 182/250 | chr3 | TogoVar | ||
| CEACAM21_chr19_41571166_41591844 | 41585872 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02145.hp2 HG02258.hp2 HG02647.hp2 others(7): Show |
a0004a0010 | a0004c0004a0010c0010 | a0004c0004t0001a0010c0010t0001 | a0004c0004t0001g0019a0004c0004t0001g0023a0004c0004t0001g0047others(3): Show | 10 | 393 | 0.0255 | 0 | c.882 others(5): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
| CELA1_chr12_51323442_51351679 | 51329814 | A | AG | frameshift_variant | HIGH | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show |
a0002 | a0002c0004a0002c0007a0002c0009 | a0002c0004t0002a0002c0007t0002a0002c0009t0002 | a0002c0004t0002g0006a0002c0004t0002g0008a0002c0004t0002g0017others(19): Show | 46 | 406 | 0.1133 | 1 | c.628 others(4): Show |
p.Leu others(5): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 7/8 | 669/953 | 628/777 | 210/258 | chr12 | TogoVar | ||
| CELA1_chr12_51323442_51351679 | 51346628 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show |
a0002a0003 | a0002c0002a0002c0003a0002c0004others(5): Show | a0002c0002t0002a0002c0003t0001a0002c0003t0002others(6): Show | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0018others(115): Show | 211 | 406 | 0.5197 | -1 | c.10d others(3): Show |
p.Leu others(3): Show |
CELA1 | ENSG00000139610.2 | transcript | ENST00000293636.2 | protein_coding | 1/8 | 51/953 | 10/777 | 4/258 | chr12 | TogoVar | ||
| CEP290_chr12_88044016_88147088 | 88083232 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG03041.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0082 | 1 | 234 | 0.0043 | 0 | c.481 others(6): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 36/53 | chr12 | TogoVar | ||||||
| CLEC2A_chr12_9908227_9937370 | 9913680 | C | T | stop_gained others(1): Show |
HIGH | HG01109.hp1 HG03041.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0047 | 2 | 436 | 0.0046 | 0 | c.411 others(3): Show |
p.Trp others(4): Show |
CLEC2A | ENSG00000188393.9 | transcript | ENST00000455827.2 | protein_coding | 5/5 | 452/905 | 411/525 | 137/174 | chr12 | TogoVar |