| 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 | ||
| ABCA10_chr17_69143007_69233824 | 69215890 | A | T | stop_gained | HIGH | HG01099.hp2 HG02055.hp1 HG02486.hp2 others(15): Show |
a0005 | a0005c0005a0005c0013a0005c0014 | a0005c0005t0004a0005c0005t0015a0005c0013t0001others(1): Show | a0005c0005t0004g0184a0005c0005t0004g0199a0005c0005t0004g0213others(15): Show | 18 | 348 | 0.0517 | 0 | c.783 others(3): Show |
p.Tyr others(4): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 8/39 | 1339/6008 | 783/4632 | 261/1543 | chr17 | 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 | |
| AGAP6_chr10_49983406_50015499 | 50002097 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00639.hp2 HG01109.hp2 HG02630.hp2 others(4): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0004c0026others(1): Show | a0001c0001t0001a0004c0004t0004a0004c0026t0004others(1): Show | a0001c0001t0001g0149a0004c0004t0004g0126a0004c0026t0004g0130others(4): Show | 7 | 406 | 0.0172 | 0 | c.497 others(5): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 5/7 | chr10 | TogoVar | ||||||
| AHNAK2_chr14_104932253_104983374 | 104950536 | G | A | stop_gained | HIGH | HG02630.hp2 | a0133 | a0133c0097 | a0133c0097t0001 | a0133c0097t0001g0116 | 1 | 356 | 0.0028 | 0 | c.491 others(4): Show |
p.Gln others(5): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5052/18335 | 4915/17388 | 1639/5795 | chr14 | TogoVar | ||
| AICDA_chr12_8597170_8617859 | 8605412 | C | CG | frameshift_variant | HIGH | HG01261.hp1 HG01361.hp2 HG01934.hp2 others(24): Show |
a0002a0007 | a0002c0003a0002c0004a0007c0010 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(5): Show | a0002c0003t0001g0036a0002c0003t0001g0045a0002c0003t0001g0085others(21): Show | 27 | 458 | 0.0590 | 1 | c.229 others(4): Show |
p.Arg others(4): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 3/5 | 321/2803 | 229/597 | 77/198 | chr12 | 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 | ||
| ANKK1_chr11_113382779_113405416 | 113395358 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG02630.hp2 HG03516.hp2 HG03540.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0019 | 3 | 400 | 0.0075 | 0 | c.633 others(5): Show |
ANKK1 | ENSG00000170209.5 | transcript | ENST00000303941.4 | protein_coding | 3/7 | chr11 | 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 | ||
| 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 | ||||||
| AR_chrX_67539021_67735619 | 67545377 | GCAGCAGC others(1): Show |
G | frameshift_variant | HIGH | HG02630.hp2 | a0071 | a0071c0054 | a0071c0054t0018 | a0071c0054t0018g0153 | 1 | 193 | 0.0052 | -8 | c.232 others(15): Show |
p.Gln others(4): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1358/10667 | 232/2763 | 78/920 | chrX | TogoVar | ||
| ATM_chr11_108218067_108374102 | 108250683 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0008a0001c0010others(13): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(157): Show | 160 | 304 | 0.5263 | 1 | c.123 others(7): Show |
ATM | ENSG00000149311.21 | transcript | ENST00000675843.1 | protein_coding | 9/62 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
| ATP8B3_chr19_1777075_1817276 | 1783028 | T | C | stop_lost | HIGH | HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show |
a0000 | a0000c0020a0000c0023a0000c0027others(15): Show | a0000c0020t0007a0000c0020t0008a0000c0023t0007others(16): Show | a0000c0020t0007g0008a0000c0020t0007g0050a0000c0020t0007g0075others(25): Show | 28 | 390 | 0.0718 | 0 | c.390 others(4): Show |
p.Ter others(12): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 29/29 | 4142/5095 | 3903/3903 | 1301/1300 | chr19 | 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 | ||||||
| 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 | |||||
| C11orf16_chr11_8915076_8937947 | 8921341 | CAT | C | frameshift_variant | HIGH | HG01109.hp2 HG01943.hp1 HG02109.hp1 others(9): Show |
a0000 | a0000c0007a0000c0011a0000c0019 | a0000c0007t0001a0000c0011t0001a0000c0019t0001 | a0000c0007t0001g0031a0000c0007t0001g0036a0000c0007t0001g0067others(6): Show | 12 | 410 | 0.0293 | -2 | c.137 others(11): Show |
p.Ile others(5): Show |
C11orf16 | ENSG00000176029.14 | transcript | ENST00000326053.10 | protein_coding | 6/7 | 1443/1866 | 1377/1404 | 459/467 | chr11 | TogoVar | ||
| C11orf86_chr11_66970304_66982009 | 66975627 | C | CG | frameshift_variant | HIGH | HG00642.hp2 HG01358.hp2 HG01433.hp2 others(8): Show |
a0000 | a0000c0002 | a0000c0002t0001 | a0000c0002t0001g0001a0000c0002t0001g0002 | 11 | 332 | 0.0331 | 1 | c.267 others(4): Show |
p.Tyr others(4): Show |
C11orf86 | ENSG00000173237.5 | transcript | ENST00000683896.1 | protein_coding | 1/2 | 327/1168 | 268/351 | 90/116 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||||||
| 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 | |
| C3orf52_chr3_112081389_112123210 | 112109537 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0118a0001c0001t0002g0002others(98): Show | 157 | 372 | 0.4220 | 1 | c.397 others(6): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNA2D3_chr3_54117552_55079557 | 54386694 | G | GTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00639.hp2 HG01070.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0033others(17): Show | 20 | 118 | 0.1695 | 3 | c.322 others(14): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CACNB2_chr10_18135424_18548557 | 18150855 | C | CTTTTTTT others(4): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02630.hp1 HG02630.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016 | a0001c0001t0001g0002a0001c0001t0001g0045a0001c0001t0012g0003others(1): Show | 4 | 200 | 0.0200 | 11 | c.121 others(23): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | 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 | ||
| 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 | ||||||
| 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 | ||
| CCHCR1_chr6_31137439_31162802 | 31157480 | C | A | stop_gained | HIGH | HG00423.hp1 HG00733.hp1 HG00741.hp1 others(20): Show |
a0007 | a0007c0013a0007c0016a0007c0018others(4): Show | a0007c0013t0003a0007c0013t0007a0007c0016t0003others(5): Show | a0007c0013t0003g0017a0007c0013t0003g0107a0007c0013t0003g0110others(10): Show | 23 | 455 | 0.0506 | 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 | ||
| 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 | |||||
| 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 | ||||||
| CDC14C_chr7_48919547_48932454 | 48924674 | T | C | start_lost | HIGH | HG02630.hp1 | a0014 | a0014c0009 | a0014c0009t0030 | a0014c0009t0030g0000 | 1 | 462 | 0.0022 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
CDC14C | ENSG00000218305.5 | transcript | ENST00000650262.2 | protein_coding | 1/1 | 128/2908 | 2/1344 | 1/447 | chr7 | TogoVar | ||
| CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | 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 | ||
| CEL_chr9_133056981_133076861 | 133071467 | G | GC | frameshift_variant | HIGH | HG00408.hp1 HG00558.hp1 HG00621.hp1 others(35): Show |
a0001a0004a0005others(3): Show | a0001c0073a0001c0190a0001c0192others(26): Show | a0001c0073t0001a0001c0190t0001a0001c0192t0001others(26): Show | a0001c0073t0001g0001a0001c0190t0001g0005a0001c0192t0001g0002others(31): Show | 38 | 416 | 0.0914 | 1 | c.196 others(10): Show |
p.Ala others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 1988/2381 | 1966/2262 | 656/753 | chr9 | TogoVar | ||
| CEL_chr9_133056981_133076861 | 133071535 | CCCCCCCC others(25): Show |
C | frameshift_variant | HIGH | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(39): Show |
a0001a0004a0006others(4): Show | a0001c0192a0001c0194a0001c0195others(22): Show | a0001c0192t0001a0001c0194t0001a0001c0195t0001others(22): Show | a0001c0192t0001g0002a0001c0194t0001g0002a0001c0195t0001g0084others(28): Show | 42 | 416 | 0.1010 | -32 | c.204 others(41): Show |
p.Val others(5): Show |
CEL | ENSG00000170835.17 | transcript | ENST00000372080.8 | protein_coding | 11/11 | 2063/2381 | 2041/2262 | 681/753 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CEP57L1_chr6_109090507_109179418 | 109150237 | C | T | stop_gained others(1): Show |
HIGH | HG02630.hp1 | a0006 | a0006c0008 | a0006c0008t0077 | a0006c0008t0077g0212 | 1 | 228 | 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 | ||
| CES5A_chr16_55841154_55880373 | 55869642 | G | A | stop_gained | HIGH | HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show |
a0007a0011 | a0007c0020a0007c0021a0007c0068others(6): Show | a0007c0020t0001a0007c0020t0003a0007c0021t0001others(7): Show | a0007c0020t0001g0364a0007c0020t0001g0365a0007c0020t0003g0118others(11): Show | 14 | 449 | 0.0312 | 0 | c.520 others(3): Show |
p.Gln others(4): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/13 | 672/2177 | 520/1728 | 174/575 | chr16 | TogoVar | ||
| CGB1_chr19_49030569_49041895 | 49035611 | T | G | stop_lost | HIGH | HG01243.hp1 HG01433.hp1 HG01884.hp1 others(15): Show |
a0000 | a0000c0003a0000c0004a0000c0010others(2): Show | a0000c0003t0001a0000c0003t0004a0000c0004t0001others(3): Show | a0000c0003t0001g0015a0000c0003t0004g0008a0000c0004t0001g0010others(4): Show | 18 | 376 | 0.0479 | 0 | c.467 others(3): Show |
p.Ter others(11): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 3/3 | 651/693 | 467/468 | 156/155 | chr19 | TogoVar | ||
| CLDN2_chrX_106915402_106935861 | 106928040 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG01123.hp2 HG02257.hp1 HG02280.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0081a0001c0001t0003g0019a0001c0001t0003g0032others(3): Show | 10 | 255 | 0.0392 | 1 | c.-17 others(7): Show |
CLDN2 | ENSG00000165376.12 | transcript | ENST00000336803.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CNDP2_chr18_74491363_74528454 | 74518940 | T | TC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(352): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(255): Show | 355 | 424 | 0.8373 | 1 | c.121 others(7): Show |
CNDP2 | ENSG00000133313.15 | transcript | ENST00000324262.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CNTLN_chr9_17130040_17508923 | 17457514 | TA | T | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(135): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0014others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(49): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0065others(135): Show | 138 | 218 | 0.6330 | -1 | c.311 others(7): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 18/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COG6_chr13_39650662_39757628 | 39679963 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(123): Show | 134 | 370 | 0.3622 | 1 | c.624 others(6): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL14A1_chr8_120120102_120378573 | 120280903 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG02027.hp1 HG02293.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0002g0029a0001c0001t0002g0069a0001c0001t0002g0070others(10): Show | 13 | 218 | 0.0596 | 1 | c.368 others(7): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 30/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |