| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A2ML1_chr12_8817621_8881787 | 8843328 | AAG | A | frameshift_variant | HIGH | HG01884.hp2 HG02559.hp2 HG02965.hp1 others(7): Show |
a0008a0013 | a0008c0012a0008c0024a0008c0038others(1): Show | a0008c0012t0002a0008c0024t0003a0008c0024t0004others(2): Show | a0008c0012t0002g0043a0008c0012t0002g0076a0008c0012t0002g0165others(7): Show | 10 | 368 | 0.0272 | -2 | c.144 others(11): Show |
p.Ser others(5): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 12/36 | 1475/5127 | 1444/4365 | 482/1454 | chr12 | TogoVar | ||
| 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 | ||
| ACAD11_chr3_132553141_132664809 | 132618633 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0016a0001c0001t0001g0293a0001c0001t0001g0294others(13): Show | 19 | 316 | 0.0601 | 0 | c.141 others(6): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 11/19 | chr3 | TogoVar | ||||||
| ACSM3_chr16_20759014_20802581 | 20781066 | G | A | stop_gained | HIGH | HG02622.hp1 HG02965.hp2 HG03195.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0048a0004c0005t0001g0198a0004c0005t0001g0202 | 4 | 356 | 0.0112 | 0 | c.875 others(3): Show |
p.Trp others(4): Show |
ACSM3 | ENSG00000005187.12 | transcript | ENST00000289416.10 | protein_coding | 6/14 | 1038/2533 | 875/1761 | 292/586 | chr16 | TogoVar | ||
| ACSM4_chr12_7299072_7333719 | 7322485 | C | T | stop_gained | HIGH | HG01168.hp1 HG01243.hp1 HG02572.hp1 others(10): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0013t0001 | a0003c0004t0001g0013a0003c0004t0001g0017a0003c0004t0001g0050others(2): Show | 13 | 430 | 0.0302 | 0 | c.106 others(4): Show |
p.Gln others(4): Show |
ACSM4 | ENSG00000215009.6 | transcript | ENST00000399422.5 | protein_coding | 7/13 | 1329/2349 | 1069/1743 | 357/580 | chr12 | 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 | ||
| ADAM33_chr20_3662975_3687010 | 3668985 | ATCTGGAC others(1): Show |
A | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(43): Show |
a0000 | a0000c0003a0000c0009a0000c0010others(9): Show | a0000c0003t0007a0000c0003t0008a0000c0003t0032others(14): Show | a0000c0003t0007g0058a0000c0003t0007g0095a0000c0003t0007g0096others(36): Show | 46 | 462 | 0.0996 | -8 | c.241 others(17): Show |
p.Gln others(5): Show |
ADAM33 | ENSG00000149451.19 | transcript | ENST00000356518.7 | protein_coding | 22/22 | 2425/3436 | 2412/2442 | 804/813 | chr20 | 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 | |
| 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 | 75611679 | GGGGCTGC others(6): Show |
G | frameshift_variant | HIGH | HG02615.hp2 HG02723.hp2 HG03195.hp2 |
a0013 | a0013c0016a0013c0024 | a0013c0016t0001a0013c0024t0003 | a0013c0016t0001g0029a0013c0016t0001g0033a0013c0024t0003g0316 | 3 | 372 | 0.0081 | -13 | c.56_ others(18): Show |
p.Leu others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/14 | 238/2575 | 56/1587 | 19/528 | INFO_REALIGN_3_PRIME | chr5 | 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 | ||
| ANKRD36C_chr2_95844548_95996824 | 95919491 | CTATTTCT others(1867): Show |
C | exon_loss_variant | HIGH | HG01884.hp2 HG02109.hp2 HG02257.hp1 others(7): Show |
a0005a0021 | a0005c0008a0005c0038a0021c0042 | a0005c0008t0001a0005c0038t0001a0021c0042t0001 | a0005c0008t0001g0004a0005c0008t0001g0276a0005c0008t0001g0278others(6): Show | 10 | 298 | 0.0336 | -1874 | c.224 others(17): Show |
ANKRD36C | ENSG00000174501.15 | transcript | ENST00000295246.7 | protein_coding | 36/88 | 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 | ||
| ASAH2B_chr10_50734936_50764255 | 50745132 | T | C | start_lost | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(135): Show | 347 | 414 | 0.8382 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ASAH2B | ENSG00000204147.11 | transcript | ENST00000647317.2 | protein_coding | 3/6 | 149/5145 | 2/483 | 1/160 | chr10 | TogoVar | ||
| ASTL_chr2_96117818_96143502 | 96123863 | AT | A | frameshift_variant | HIGH | HG01884.hp1 HG02109.hp2 HG02257.hp1 others(7): Show |
a0000 | a0000c0005 | a0000c0005t0001 | a0000c0005t0001g0008 | 10 | 396 | 0.0253 | -1 | c.128 others(5): Show |
p.Met others(5): Show |
ASTL | ENSG00000188886.4 | transcript | ENST00000342380.3 | protein_coding | 9/9 | 1348/2394 | 1282/1296 | 428/431 | chr2 | TogoVar | ||
| ATP6V1B1_chr2_70930900_70970431 | 70935956 | T | C | start_lost | HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(149): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0006a0002c0008others(18): Show | a0002c0003t0001a0002c0006t0001a0002c0006t0003others(21): Show | a0002c0003t0001g0021a0002c0003t0001g0271a0002c0003t0001g0280others(144): Show | 152 | 440 | 0.3455 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ATP6V1B1 | ENSG00000116039.13 | transcript | ENST00000234396.10 | protein_coding | 1/14 | 57/1907 | 2/1542 | 1/513 | chr2 | TogoVar | ||
| AVPI1_chr10_97672424_97692241 | 97679916 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0009others(48): Show | 101 | 446 | 0.2265 | 0 | c.-10 others(5): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1/2 | chr10 | TogoVar | ||||||
| BMAL2_chr12_27327836_27430286 | 27390095 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG03098.hp1 HG03195.hp2 |
a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0082a0004c0004t0011g0083 | 2 | 310 | 0.0065 | 0 | c.776 others(5): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 8/16 | chr12 | TogoVar | ||||||
| BPHL_chr6_3113711_3158578 | 3127410 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01891.hp2 HG02055.hp1 HG02109.hp2 others(14): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0147a0001c0001t0002g0018others(9): Show | 17 | 350 | 0.0486 | 0 | c.378 others(5): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
| BPIFA2_chr20_33163159_33186412 | 33169148 | G | A | start_lost | HIGH | HG01884.hp1 HG02257.hp2 HG02258.hp2 others(6): Show |
a0003 | a0003c0006a0003c0007a0003c0009 | a0003c0006t0001a0003c0006t0002a0003c0007t0001others(1): Show | a0003c0006t0001g0025a0003c0006t0001g0026a0003c0006t0002g0014others(5): Show | 9 | 378 | 0.0238 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
BPIFA2 | ENSG00000131050.11 | transcript | ENST00000354932.6 | protein_coding | 2/9 | 69/1042 | 3/750 | 1/249 | chr20 | TogoVar | ||
| BZW2_chr7_16641181_16711517 | 16682767 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG01081.hp2 HG01109.hp1 HG01167.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0025others(41): Show | 46 | 418 | 0.1101 | 1 | c.340 others(6): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| C12orf54_chr12_48477498_48501524 | 48494980 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0091others(11): Show | 37 | 436 | 0.0849 | 0 | c.*40 others(5): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 8/8 | chr12 | TogoVar | ||||||
| C12orf60_chr12_14798670_14829415 | 14823483 | CTA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0008a0002c0002t0001g0012others(9): Show | 68 | 388 | 0.1753 | -2 | c.550 others(9): Show |
p.Met others(5): Show |
C12orf60 | ENSG00000182993.5 | transcript | ENST00000330828.3 | protein_coding | 2/2 | 656/1586 | 550/738 | 184/245 | INFO_REALIGN_3_PRIME | chr12 | 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 | ||||||
| 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 | ||
| C1orf127_chr1_10941475_10987076 | 10949622 | G | A | splice_donor_variant others(1): Show |
HIGH | HG02056.hp1 HG02145.hp1 HG02155.hp1 others(20): Show |
a0003a0005a0008others(3): Show | a0003c0006a0003c0014a0005c0008others(4): Show | a0003c0006t0004a0003c0006t0012a0003c0014t0004others(5): Show | a0003c0006t0004g0034a0003c0006t0004g0086a0003c0006t0004g0113others(20): Show | 23 | 392 | 0.0587 | 0 | c.129 others(6): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 11/12 | chr1 | 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 | |
| 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 | ||||||
| C8orf34_chr8_68325955_68824023 | 68331151 | C | T | stop_gained | HIGH | HG03195.hp2 NA20300.hp1 |
a0004 | a0004c0017a0004c0018 | a0004c0017t0006a0004c0018t0007 | a0004c0017t0006g0128a0004c0018t0007g0126 | 2 | 128 | 0.0156 | 0 | c.139 others(3): Show |
p.Gln others(3): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/14 | 197/2452 | 139/1617 | 47/538 | chr8 | TogoVar | ||
| CACNB2_chr10_18135424_18548557 | 18150879 | T | TTTTTTTG | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01516.hp2 HG02723.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0006a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0006g0005a0001c0001t0008g0007a0001c0002t0002g0004others(2): Show | 5 | 200 | 0.0250 | 7 | c.121 others(18): 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 | |
| CASC3_chr17_40135537_40177171 | 40163475 | T | TTG | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG01081.hp1 HG01109.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0232a0001c0001t0001g0233others(18): Show | 22 | 266 | 0.0827 | 2 | c.786 others(13): Show |
CASC3 | ENSG00000108349.17 | transcript | ENST00000264645.12 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | 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 | ||
| CBY2_chr13_45697320_45719559 | 45713238 | C | A | stop_gained | HIGH | HG01070.hp1 HG01175.hp1 HG01243.hp2 others(19): Show |
a0004 | a0004c0004a0004c0013 | a0004c0004t0001a0004c0004t0002a0004c0013t0001 | a0004c0004t0001g0005a0004c0004t0001g0016a0004c0004t0001g0034others(6): Show | 22 | 440 | 0.0500 | 0 | c.213 others(3): Show |
p.Cys others(3): Show |
CBY2 | ENSG00000174015.10 | transcript | ENST00000310521.6 | protein_coding | 3/3 | 284/1605 | 213/1347 | 71/448 | chr13 | TogoVar | ||
| CCDC163_chr1_45488866_45505073 | 45497311 | G | A | stop_gained | HIGH | HG01167.hp1 HG01884.hp1 HG02055.hp2 others(16): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0004a0002c0002t0009a0004c0005t0004 | a0002c0002t0004g0007a0002c0002t0004g0022a0002c0002t0004g0023others(5): Show | 19 | 408 | 0.0466 | 0 | c.250 others(3): Show |
p.Gln others(3): Show |
CCDC163 | ENSG00000280670.3 | transcript | ENST00000629482.3 | protein_coding | 3/5 | 714/2095 | 250/438 | 84/145 | chr1 | TogoVar | ||
| CCDC198_chr14_57464300_57498857 | 57481662 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(258): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(133): Show | 261 | 362 | 0.7210 | 0 | c.394 others(5): Show |
CCDC198 | ENSG00000100557.10 | transcript | ENST00000216445.8 | protein_coding | 3/5 | chr14 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 409154 | GAGATCAC others(786): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01891.hp1 HG02145.hp2 HG02809.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0011a0006c0006t0012 | a0006c0006t0011g0103a0006c0006t0011g0106a0006c0006t0012g0104others(1): Show | 4 | 432 | 0.0093 | -793 | c.-16 others(14): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(67): Show | 187 | 455 | 0.4110 | 0 | c.234 others(3): Show |
p.Trp others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 2/18 | 436/2971 | 234/2616 | 78/871 | chr6 | TogoVar | ||
| CCNL2_chr1_1380711_1404335 | 1398672 | CTAGAG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00544.hp1 HG00558.hp2 HG01109.hp1 others(49): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0002g0010a0001c0001t0002g0012a0001c0001t0002g0042others(35): Show | 52 | 370 | 0.1405 | -5 | c.289 others(16): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 1/10 | chr1 | 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 |