| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCHCR1_chr6_31137439_31162802 | 31143056 | T | A | stop_gained | HIGH | NA19083.hp2 | a0011 | a0011c0030 | a0011c0030t0002 | a0011c0030t0002g0096 | 1 | 454 | 0.0022 | 0 | c.239 others(4): Show |
p.Lys others(4): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 17/18 | 2600/2971 | 2398/2616 | 800/871 | chr6 | TogoVar | |||
| CCHCR1_chr6_31137439_31162802 | 31157072 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(183): Show |
a0001 | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(67): Show |
186 | 454 | 0.4097 | 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 | |||
| CCHCR1_chr6_31137439_31162802 | 31157480 | C | A | stop_gained | HIGH | HG00423.hp1 HG00733.hp1 HG00741.hp1 others(20): Show |
a0001 | a0001c0013a0001c0016a0001c0018others(4): Show | a0001c0013t0003a0001c0013t0007a0001c0016t0003others(5): Show | a0001c0013t0003g0017 a0001c0013t0003g0107 a0001c0013t0003g0110 others(10): Show |
23 | 454 | 0.0507 | 0 | c.121 others(3): Show |
p.Glu others(3): Show |
CCHCR1 | ENSG00000204536.15 | transcript | ENST00000396268.8 | protein_coding | 1/18 | 323/2971 | 121/2616 | 41/871 | chr6 | TogoVar | |||
| CCR5_chr3_46365946_46381206 | 46373106 | C | A | stop_gained | HIGH | NA19060.hp2 | a0009 | a0009c0012 | a0009c0012t0027 | a0009c0012t0027g0019 | 1 | 420 | 0.0024 | 0 | c.204 others(3): Show |
p.Tyr others(3): Show |
CCR5 | ENSG00000160791.14 | transcript | ENST00000292303.5 | protein_coding | 2/2 | 258/3358 | 204/1059 | 68/352 | chr3 | TogoVar | |||
| CCT8L2_chr22_16585751_16597810 | 16591457 | C | T | stop_gained | HIGH | HG01358.hp1 HG01884.hp1 HG02280.hp2 others(1): Show |
a0003a0008 | a0003c0004a0008c0012 | a0003c0004t0001a0008c0012t0001 | a0003c0004t0001g0000 a0008c0012t0001g0000 |
4 | 430 | 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 | |||
| CD163L1_chr12_7349960_7449153 | 7375883 | C | A | stop_gained | HIGH | HG02809.hp1 | a0019 | a0019c0020 | a0019c0020t0001 | a0019c0020t0001g0253 | 1 | 382 | 0.0026 | 0 | c.250 others(4): Show |
p.Glu others(4): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 10/20 | 2529/4583 | 2503/4362 | 835/1453 | chr12 | TogoVar | |||
| CD177_chr19_43348686_43368172 | 43361169 | A | T | stop_gained | HIGH | HG00544.hp2 HG01106.hp2 HG01256.hp2 others(9): Show |
a0008a0014a0015others(3): Show | a0008c0013a0008c0029a0008c0036others(5): Show | a0008c0013t0002a0008c0029t0002a0008c0036t0001others(5): Show | a0008c0013t0002g0243 a0008c0013t0002g0295 a0008c0013t0002g0296 others(9): Show |
12 | 464 | 0.0259 | 0 | c.787 others(3): Show |
p.Lys others(4): Show |
CD177 | ENSG00000204936.10 | transcript | ENST00000618265.5 | protein_coding | 7/9 | 816/2195 | 787/1314 | 263/437 | chr19 | TogoVar | |||
| CD177_chr19_43348686_43368172 | 43362260 | G | A | stop_gained | HIGH | HG02015.hp1 NA18962.hp2 NA18995.hp2 others(2): Show |
a0011a0025 | a0011c0009a0025c0027 | a0011c0009t0003a0025c0027t0003 | a0011c0009t0003g0004 a0011c0009t0003g0067 a0025c0027t0003g0137 |
5 | 464 | 0.0108 | 0 | c.125 others(4): Show |
p.Trp others(4): Show |
CD177 | ENSG00000204936.10 | transcript | ENST00000618265.5 | protein_coding | 9/9 | 1283/2195 | 1254/1314 | 418/437 | chr19 | TogoVar | |||
| CD1D_chr1_158175895_158191427 | 158182112 | C | T | stop_gained | HIGH | HG02165.hp1 | a0004 | a0004c0007 | a0004c0007t0014 | a0004c0007t0014g0002 | 1 | 432 | 0.0023 | 0 | c.409 others(3): Show |
p.Gln others(4): Show |
CD1D | ENSG00000158473.8 | transcript | ENST00000674085.2 | protein_coding | 3/6 | 616/3492 | 409/1008 | 137/335 | chr1 | TogoVar | |||
| CD200R1_chr3_112916205_112980103 | 112929199 | G | A | stop_gained | HIGH | HG00544.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0105 | 1 | 414 | 0.0024 | 0 | c.511 others(3): Show |
p.Gln others(4): Show |
CD200R1 | ENSG00000163606.11 | transcript | ENST00000308611.8 | protein_coding | 4/8 | 757/3765 | 511/1047 | 171/348 | chr3 | TogoVar | |||
| CD207_chr2_70825211_70840816 | 70835707 | G | A | stop_gained | HIGH | NA18940.hp1 NA18944.hp1 NA18961.hp2 others(5): Show |
a0009 | a0009c0017a0009c0019a0009c0036 | a0009c0017t0002a0009c0019t0001a0009c0036t0001 | a0009c0017t0002g0023 a0009c0019t0001g0053 a0009c0019t0001g0127 others(1): Show |
8 | 442 | 0.0181 | 0 | c.70C others(2): Show |
p.Arg others(3): Show |
CD207 | ENSG00000116031.9 | transcript | ENST00000410009.5 | protein_coding | 1/6 | 110/1866 | 70/987 | 24/328 | chr2 | TogoVar | |||
| CD300A_chr17_74461634_74489794 | 74473826 | C | T | stop_gained | HIGH | HG01952.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0204 | 1 | 422 | 0.0024 | 0 | c.331 others(3): Show |
p.Arg others(4): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 2/7 | 401/1638 | 331/900 | 111/299 | chr17 | TogoVar | |||
| CD300C_chr17_74536073_74551115 | 74544657 | G | A | stop_gained | HIGH | HG00438.hp2 NA19062.hp2 NA20752.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0030 a0003c0006t0001g0049 a0003c0006t0001g0050 |
3 | 406 | 0.0074 | 0 | c.352 others(3): Show |
p.Arg others(4): Show |
CD300C | ENSG00000167850.4 | transcript | ENST00000330793.2 | protein_coding | 2/4 | 685/1524 | 352/675 | 118/224 | chr17 | TogoVar | |||
| CD300C_chr17_74536073_74551115 | 74544768 | G | A | stop_gained | HIGH | NA18980.hp2 | a0003 | a0003c0014 | a0003c0014t0003 | a0003c0014t0003g0038 | 1 | 406 | 0.0025 | 0 | c.241 others(3): Show |
p.Arg others(3): Show |
CD300C | ENSG00000167850.4 | transcript | ENST00000330793.2 | protein_coding | 2/4 | 574/1524 | 241/675 | 81/224 | chr17 | TogoVar | |||
| CD36_chr7_80633642_80684274 | 80671133 | T | G | stop_gained | HIGH | HG01891.hp2 HG02818.hp2 HG02922.hp1 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0025 | a0002c0002t0002g0015 a0002c0002t0002g0205 a0002c0002t0007g0048 others(4): Show |
11 | 390 | 0.0282 | 0 | c.975 others(3): Show |
p.Tyr others(4): Show |
CD36 | ENSG00000135218.19 | transcript | ENST00000447544.7 | protein_coding | 10/15 | 1263/4598 | 975/1419 | 325/472 | chr7 | TogoVar | |||
| CD9_chr12_6195400_6243266 | 6233438 | C | CGCCATTG others(18): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0146 | 1 | 376 | 0.0027 | 25 | c.302 others(32): Show |
p.Trp others(5): Show |
CD9 | ENSG00000010278.15 | transcript | ENST00000009180.10 | protein_coding | 4/8 | 427/1225 | 327/687 | 109/228 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
| CDH15_chr16_89166748_89200492 | 89195074 | C | A | stop_gained | HIGH | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(38): Show |
a0004a0005a0020others(2): Show | a0004c0005a0004c0019a0005c0006others(3): Show | a0004c0005t0001a0004c0019t0005a0005c0006t0001others(3): Show | a0004c0005t0001g0017 a0004c0005t0001g0019 a0004c0005t0001g0047 others(28): Show |
41 | 404 | 0.1015 | 0 | c.236 others(4): Show |
p.Tyr others(4): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 14/14 | 2448/2866 | 2364/2445 | 788/814 | chr16 | TogoVar | |||
| CDHR4_chr3_49785732_49804873 | 49793870 | G | T | stop_gained | HIGH | NA19003.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0053 | 1 | 352 | 0.0028 | 0 | c.141 others(4): Show |
p.Tyr others(4): Show |
CDHR4 | ENSG00000187492.9 | transcript | ENST00000412678.7 | protein_coding | 11/19 | 1477/2528 | 1416/2367 | 472/788 | chr3 | TogoVar | |||
| CDK18_chr1_205499669_205537790 | 205530696 | C | T | stop_gained | HIGH | HG02615.hp1 | a0004 | a0004c0008 | a0004c0008t0017 | a0004c0008t0017g0307 | 1 | 386 | 0.0026 | 0 | c.138 others(4): Show |
p.Gln others(4): Show |
CDK18 | ENSG00000117266.16 | transcript | ENST00000429964.7 | protein_coding | 15/16 | 1530/2986 | 1381/1425 | 461/474 | chr1 | TogoVar | |||
| CDO1_chr5_115799733_115821659 | 115816292 | T | TGGCCTGC others(25): Show |
frameshift_variant others(1): Show |
HIGH | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0094 | 1 | 370 | 0.0027 | 32 | c.74_ others(38): Show |
p.Ile others(4): Show |
CDO1 | ENSG00000129596.5 | transcript | ENST00000250535.5 | protein_coding | 1/5 | 367/1565 | 105/603 | 35/200 | chr5 | TogoVar | |||
| CEACAM16_chr19_44694151_44715718 | 44701480 | G | A | stop_gained | HIGH | HG02015.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0140 | 1 | 448 | 0.0022 | 0 | c.24G others(2): Show |
p.Trp others(2): Show |
CEACAM16 | ENSG00000213892.12 | transcript | ENST00000587331.7 | protein_coding | 2/7 | 230/1696 | 24/1278 | 8/425 | chr19 | TogoVar | |||
| CEACAM21_chr19_41571166_41591844 | 41576295 | T | A | stop_gained | HIGH | NA18941.hp2 | a0011 | a0011c0008 | a0011c0008t0002 | a0011c0008t0002g0001 | 1 | 392 | 0.0026 | 0 | c.21T others(2): Show |
p.Cys others(2): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 1/7 | 130/1372 | 21/882 | 7/293 | chr19 | TogoVar | |||
| CEACAM7_chr19_41668303_41693270 | 41686923 | A | T | stop_gained | HIGH | NA18967.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0074 | 1 | 410 | 0.0024 | 0 | c.363 others(3): Show |
p.Tyr others(4): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 2/5 | 468/2376 | 363/798 | 121/265 | chr19 | TogoVar | |||
| CEACAM7_chr19_41668303_41693270 | 41686977 | G | T | stop_gained | HIGH | NA18967.hp2 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0074 | 1 | 410 | 0.0024 | 0 | c.309 others(3): Show |
p.Tyr others(4): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 2/5 | 414/2376 | 309/798 | 103/265 | chr19 | TogoVar | |||
| CEL_chr9_133056981_133076861 | 133071273 | C | CCCCCCGT others(20495): Show |
stop_gained others(1): Show |
HIGH | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 413 | 0.0024 | 20502 | c.187 others(20511): Show |
p.Pro others(20515): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071273 | C | CCCCCCGT others(20691): Show |
frameshift_variant others(1): Show |
HIGH | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 413 | 0.0024 | 20698 | c.193 others(20707): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071306 | C | CCCCCCGT others(20382): Show |
frameshift_variant others(1): Show |
HIGH | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 414 | 0.0024 | 20389 | c.196 others(20398): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20288): Show |
stop_gained others(1): Show |
HIGH | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20295 | c.189 others(20304): Show |
p.Gly others(20308): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20285): Show |
stop_gained others(1): Show |
HIGH | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20292 | c.189 others(20301): Show |
p.Gly others(20305): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20283): Show |
frameshift_variant others(1): Show |
HIGH | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20290 | c.189 others(20299): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20286): Show |
frameshift_variant others(1): Show |
HIGH | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20293 | c.189 others(20302): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20286): Show |
frameshift_variant others(1): Show |
HIGH | NA20300.hp1 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0040 | 1 | 405 | 0.0025 | 20293 | c.189 others(20302): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20286): Show |
frameshift_variant others(1): Show |
HIGH | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 405 | 0.0025 | 20293 | c.189 others(20302): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20285): Show |
stop_gained others(1): Show |
HIGH | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 405 | 0.0025 | 20292 | c.189 others(20301): Show |
p.Gly others(20305): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20317): Show |
frameshift_variant others(1): Show |
HIGH | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 405 | 0.0025 | 20324 | c.193 others(20333): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20284): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 405 | 0.0025 | 20291 | c.193 others(20300): Show |
p.Pro others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1954/2381 | 1932/2262 | 644/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071339 | C | CCCCCCGT others(20350): Show |
frameshift_variant others(1): Show |
HIGH | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 405 | 0.0025 | 20357 | c.196 others(20366): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071350 | G | GCCCACGG others(20251): Show |
frameshift_variant others(1): Show |
HIGH | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 413 | 0.0024 | 20258 | c.189 others(20267): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1921/2381 | 1899/2262 | 633/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071369 | G | GCCCCCCC others(20426): Show |
stop_gained others(1): Show |
HIGH | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 385 | 0.0026 | 20433 | c.187 others(20442): Show |
p.Pro others(20446): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1898/2381 | 1876/2262 | 626/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 362 | 0.0028 | 34 | c.195 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1982/2381 | 1960/2262 | 654/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(60): Show |
frameshift_variant others(1): Show |
HIGH | HG01167.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 363 | 0.0055 | 67 | c.196 others(76): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071435 | G | GCCCCCCC others(20353): Show |
frameshift_variant others(1): Show |
HIGH | HG04204.hp2 | a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0064 | 1 | 362 | 0.0028 | 20360 | c.196 others(20369): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1987/2381 | 1965/2262 | 655/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071533 | G | GCCCCCCC others(95): Show |
stop_gained others(1): Show |
HIGH | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 229 | 0.0044 | 102 | c.204 others(111): Show |
p.Pro others(115): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071567 | G | GCCCCCCC others(95): Show |
stop_gained others(1): Show |
HIGH | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 322 | 0.0031 | 102 | c.207 others(111): Show |
p.Pro others(115): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2096/2381 | 2074/2262 | 692/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071567 | G | GCCCCCCC others(27): Show |
frameshift_variant others(1): Show |
HIGH | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 322 | 0.0031 | 34 | c.209 others(43): Show |
p.Ser others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2114/2381 | 2092/2262 | 698/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
| CEMP1_chr16_2525035_2536408 | 2530527 | T | A | stop_gained | HIGH | HG02559.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0000 | 1 | 346 | 0.0029 | 0 | c.547 others(3): Show |
p.Lys others(4): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 1/1 | 882/1374 | 547/744 | 183/247 | chr16 | TogoVar | |||
| CEP152_chr15_48732938_48816069 | 48741607 | G | A | stop_gained | HIGH | HG02451.hp1 | a0019 | a0019c0025 | a0019c0025t0001 | a0019c0025t0001g0231 | 1 | 340 | 0.0029 | 0 | c.408 others(4): Show |
p.Gln others(5): Show |
CEP152 | ENSG00000103995.14 | transcript | ENST00000380950.7 | protein_coding | 26/27 | 4203/5560 | 4087/5133 | 1363/1710 | chr15 | TogoVar | |||
| CEP290_chr12_88044016_88147088 | 88071860 | G | A | stop_gained | HIGH | NA19009.hp2 | a0017 | a0017c0026 | a0017c0026t0001 | a0017c0026t0001g0091 | 1 | 232 | 0.0043 | 0 | c.577 others(4): Show |
p.Arg others(5): Show |
CEP290 | ENSG00000198707.17 | transcript | ENST00000552810.6 | protein_coding | 42/54 | 5992/7824 | 5776/7440 | 1926/2479 | chr12 | TogoVar | |||
| CEP295NL_chr17_78885579_78908201 | 78891576 | G | A | stop_gained | HIGH | NA18957.hp2 NA18971.hp2 NA18980.hp1 others(4): Show |
a0007 | a0007c0007a0007c0024 | a0007c0007t0002a0007c0024t0002 | a0007c0007t0002g0016 a0007c0007t0002g0050 a0007c0024t0002g0207 |
7 | 428 | 0.0164 | 0 | c.928 others(3): Show |
p.Gln others(4): Show |
CEP295NL | ENSG00000178404.11 | transcript | ENST00000322630.3 | protein_coding | 3/3 | 1094/2091 | 928/1866 | 310/621 | chr17 | TogoVar | |||
| CEP57L1_chr6_109090507_109179418 | 109150237 | C | T | stop_gained others(1): Show |
HIGH | HG02630.hp1 | a0006 | a0006c0008 | a0006c0008t0074 | a0006c0008t0074g0212 | 1 | 226 | 0.0044 | 0 | c.460 others(3): Show |
p.Gln others(4): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4/11 | 532/12903 | 460/1383 | 154/460 | chr6 | TogoVar |