| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PLXNB3_chrX_153759249_153784341 | 153773324 | C | CT | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.300 others(10): Show |
p.Gln others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 18/36 | 3123/6153 | 3002/5730 | 1001/1909 | chrX | TogoVar | ||
| PLXNB3_chrX_153759249_153784341 | 153773698 | TG | T | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.327 others(5): Show |
p.Leu others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 19/36 | 3391/6153 | 3270/5730 | 1090/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PLXNB3_chrX_153759249_153784341 | 153774053 | T | TA | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | 1 | c.347 others(10): Show |
p.Ala others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 20/36 | 3596/6153 | 3475/5730 | 1159/1909 | chrX | TogoVar | ||
| PLXNB3_chrX_153759249_153784341 | 153774558 | AC | A | frameshift_variant | HIGH | NA19086.hp1 | a0031 | a0031c0021 | a0031c0021t0001 | a0031c0021t0001g0084 | 1 | 308 | 0.0033 | -1 | c.382 others(5): Show |
p.Leu others(6): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 22/36 | 3941/6153 | 3820/5730 | 1274/1909 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| PNMA5_chrX_152983824_152999116 | 152991517 | TG | T | frameshift_variant | HIGH | NA19086.hp1 | a0008 | a0008c0003 | a0008c0003t0002 | a0008c0003t0002g0038 | 1 | 286 | 0.0035 | -1 | c.81d others(3): Show |
p.Met others(4): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4/4 | 494/3188 | 81/1347 | 27/448 | chrX | TogoVar | ||
| PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0007others(9): Show | a0003c0003a0005c0005a0007c0006others(9): Show | a0003c0003t0002a0005c0005t0002a0007c0006t0002others(9): Show | a0003c0003t0002g0004a0003c0003t0002g0023a0003c0003t0002g0033others(14): Show | 80 | 443 | 0.1806 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar | ||
| PRICKLE3_chrX_49169802_49191373 | 49184681 | G | GC | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0122 | 1 | 273 | 0.0037 | 1 | c.71d others(3): Show |
p.Gln others(4): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 2/9 | 147/2795 | 71/1848 | 24/615 | chrX | TogoVar | ||
| PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00639.hp2 HG00733.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0022others(48): Show | 52 | 362 | 0.1437 | 3 | c.-48 others(14): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRPF3_chr1_150316533_150358233 | 150324880 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(297): Show | 306 | 362 | 0.8453 | 4 | c.-48 others(15): Show |
PRPF3 | ENSG00000117360.13 | transcript | ENST00000324862.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0005others(4): Show | a0000c0001t0002a0000c0001t0004a0000c0001t0005others(6): Show | a0000c0001t0002g0001a0000c0001t0002g0008a0000c0001t0002g0010others(100): Show | 325 | 428 | 0.7594 | 0 | c.985 others(3): Show |
p.Ter others(11): Show |
PRSS48 | ENSG00000189099.12 | transcript | ENST00000455694.7 | protein_coding | 5/5 | 997/1408 | 985/987 | 329/328 | chr4 | TogoVar | ||
| PSG4_chr19_43187702_43210638 | 43204252 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00558.hp1 HG00597.hp2 others(39): Show |
a0002a0014a0018others(1): Show | a0002c0002a0014c0020a0018c0038others(1): Show | a0002c0002t0003a0002c0002t0006a0002c0002t0017others(4): Show | a0002c0002t0003g0001a0002c0002t0003g0021a0002c0002t0003g0162others(22): Show | 42 | 300 | 0.1400 | 0 | c.65- others(4): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| PTEN_chr10_87858625_87976930 | 87960876 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0009a0001c0001t0002g0144a0001c0001t0002g0211others(84): Show | 87 | 322 | 0.2702 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PYDC1_chr16_31210962_31222135 | 31216742 | C | A | splice_donor_variant others(1): Show |
HIGH | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 346 | 0.0029 | 0 | c.*16 others(5): Show |
PYDC1 | ENSG00000169900.8 | transcript | ENST00000302964.4 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
| PYGL_chr14_50900217_50949483 | 50911872 | CT | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(26): Show | a0001c0001t0002g0010a0001c0001t0002g0100a0001c0001t0002g0114others(188): Show | 253 | 390 | 0.6487 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | ||||||
| RABL2A_chr2_113622266_113648392 | 113635063 | CG | C | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp2 HG00735.hp2 others(38): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0005a0002c0002t0001g0025others(17): Show | 41 | 436 | 0.0940 | -1 | c.232 others(4): Show |
p.Ala others(4): Show |
RABL2A | ENSG00000144134.19 | transcript | ENST00000683472.1 | protein_coding | 5/9 | 420/2141 | 232/690 | 78/229 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| RARA_chr17_40304180_40362643 | 40348371 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00735.hp2 HG01175.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0001a0002c0002t0001g0024a0002c0002t0001g0025others(11): Show | 14 | 286 | 0.0490 | 1 | c.239 others(4): Show |
p.Leu others(4): Show |
RARA | ENSG00000131759.18 | transcript | ENST00000254066.10 | protein_coding | 3/9 | 709/3275 | 240/1389 | 80/462 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| RBFA_chr18_80029434_80055651 | 80045910 | GTGTGGCA others(6): Show |
G | frameshift_variant | HIGH | NA19086.hp2 | a0006 | a0006c0010 | a0006c0010t0038 | a0006c0010t0038g0062 | 1 | 414 | 0.0024 | -13 | c.788 others(20): Show |
p.Val others(5): Show |
RBFA | ENSG00000101546.13 | transcript | ENST00000306735.10 | protein_coding | 7/7 | 850/5590 | 788/1032 | 263/343 | chr18 | TogoVar | ||
| RBMX_chrX_136868461_136885725 | 136879426 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 HG02055.hp1 HG02145.hp1 others(4): Show |
a0001a0008 | a0001c0002a0008c0003 | a0001c0002t0001a0008c0003t0001 | a0001c0002t0001g0029a0001c0002t0001g0031a0001c0002t0001g0079others(4): Show | 7 | 308 | 0.0227 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
RBMX | ENSG00000147274.14 | transcript | ENST00000320676.11 | protein_coding | 2/9 | 156/2012 | 1/1176 | 1/391 | chrX | TogoVar | ||
| RECQL5_chr17_75621854_75672154 | 75630838 | C | CTG | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(111): Show | 147 | 378 | 0.3889 | 2 | c.158 others(15): Show |
RECQL5 | ENSG00000108469.15 | transcript | ENST00000317905.10 | protein_coding | 11/19 | chr17 | TogoVar | ||||||
| RENBP_chrX_153930269_153949643 | 153940154 | T | TC | frameshift_variant | HIGH | NA19086.hp1 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0042 | 1 | 297 | 0.0034 | 1 | c.102 others(5): Show |
p.Asp others(5): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 9/11 | 1057/1334 | 1024/1284 | 342/427 | chrX | TogoVar | ||
| RENBP_chrX_153930269_153949643 | 153941573 | CA | C | frameshift_variant | HIGH | NA19086.hp1 | a0016 | a0016c0016 | a0016c0016t0001 | a0016c0016t0001g0042 | 1 | 297 | 0.0034 | -1 | c.849 others(4): Show |
p.Ile others(5): Show |
RENBP | ENSG00000102032.13 | transcript | ENST00000393700.8 | protein_coding | 8/11 | 882/1334 | 849/1284 | 283/427 | chrX | TogoVar | ||
| RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0008a0003c0004others(16): Show | a0002c0002t0001a0002c0008t0001a0003c0004t0001others(16): Show | a0002c0002t0001g0003a0002c0002t0001g0011a0002c0002t0001g0014others(130): Show | 232 | 438 | 0.5297 | 1 | c.127 others(5): Show |
p.Asp others(5): Show |
RHBG | ENSG00000132677.13 | transcript | ENST00000537040.6 | protein_coding | 9/10 | 1311/1790 | 1272/1377 | 424/458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(50): Show |
a0001a0002a0008 | a0001c0013a0002c0003a0008c0007 | a0001c0013t0002a0002c0003t0003a0008c0007t0003 | a0001c0013t0002g0012a0002c0003t0003g0021a0002c0003t0003g0022others(50): Show | 53 | 386 | 0.1373 | 1 | c.100 others(7): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(101): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(101): Show | 104 | 386 | 0.2694 | 3 | c.100 others(16): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SFTPA2_chr10_79550852_79565407 | 79560363 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18952.hp2 NA18961.hp2 NA18975.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 4 | 472 | 0.0085 | 0 | c.-54 others(5): Show |
SFTPA2 | ENSG00000185303.17 | transcript | ENST00000372325.7 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
| SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(160): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0001a0002c0002t0002g0004a0002c0002t0002g0005others(95): Show | 163 | 402 | 0.4055 | 0 | c.288 others(3): Show |
p.Trp others(3): Show |
SLC22A10 | ENSG00000184999.13 | transcript | ENST00000332793.11 | protein_coding | 1/10 | 551/2638 | 288/1626 | 96/541 | chr11 | TogoVar | ||
| SLC22A14_chr3_38277294_38323575 | 38307252 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00621.hp1 HG00735.hp2 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0199others(35): Show | 45 | 406 | 0.1108 | 0 | c.517 others(5): Show |
SLC22A14 | ENSG00000144671.11 | transcript | ENST00000448498.6 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
| SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0017a0002c0002others(14): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(16): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0098others(263): Show | 268 | 366 | 0.7322 | 0 | c.150 others(4): Show |
p.Tyr others(4): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 9/10 | 1945/2101 | 1503/1659 | 501/552 | chr11 | TogoVar | ||
| SLC22A24_chr11_63074940_63149221 | 63143377 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00558.hp2 HG00597.hp2 HG00642.hp1 others(83): Show |
a0003a0007a0013others(2): Show | a0003c0003a0003c0009a0007c0007others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0002a0003c0003t0002g0022others(80): Show | 86 | 366 | 0.2350 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
| SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
| SLFN12L_chr17_35459254_35542678 | 35479822 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG01106.hp1 HG01891.hp1 others(31): Show |
a0005 | a0005c0006a0005c0019 | a0005c0006t0005a0005c0006t0021a0005c0006t0036others(9): Show | a0005c0006t0005g0060a0005c0006t0005g0130a0005c0006t0005g0131others(31): Show | 34 | 360 | 0.0944 | -1 | c.459 others(4): Show |
p.Leu others(5): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 3/5 | 1170/13219 | 459/1839 | 153/612 | chr17 | TogoVar | ||
| SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003a0002c0002t0003g0022a0002c0002t0003g0060others(25): Show | 59 | 456 | 0.1294 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | TogoVar | ||
| SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007a0002c0002t0001g0022a0002c0002t0001g0029others(24): Show | 60 | 430 | 0.1395 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | ||
| SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SNED1_chr2_240993618_241100568 | 240998897 | C | CG | frameshift_variant | HIGH | HG01934.hp1 HG01993.hp1 HG03654.hp2 others(5): Show |
a0007 | a0007c0027a0007c0038a0007c0039others(4): Show | a0007c0027t0001a0007c0027t0002a0007c0038t0018others(5): Show | a0007c0027t0001g0267a0007c0027t0002g0012a0007c0038t0018g0159others(5): Show | 8 | 344 | 0.0233 | 1 | c.64d others(3): Show |
p.Val others(4): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/32 | 285/8394 | 65/4242 | 22/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
| SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
| SPON2_chr4_1161932_1177583 | 1171887 | A | AG | frameshift_variant | HIGH | HG01074.hp1 HG01257.hp2 HG01978.hp2 others(15): Show |
a0004a0006 | a0004c0006a0004c0009a0004c0012others(4): Show | a0004c0006t0001a0004c0009t0001a0004c0012t0001others(4): Show | a0004c0006t0001g0010a0004c0006t0001g0017a0004c0009t0001g0024others(6): Show | 18 | 432 | 0.0417 | 1 | c.184 others(4): Show |
p.Leu others(4): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 2/6 | 227/1579 | 184/996 | 62/331 | chr4 | TogoVar | ||
| SPSB2_chr12_6865935_6878303 | 6872998 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(74): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0016others(7): Show | 77 | 398 | 0.1935 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
| SYN1_chrX_47566901_47624857 | 47607035 | GC | G | frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0015 | a0015c0007 | a0015c0007t0001 | a0015c0007t0001g0180 | 1 | 282 | 0.0036 | -1 | c.436 others(4): Show |
p.Ala others(5): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 3/13 | 565/3210 | 436/2118 | 146/705 | chrX | TogoVar | ||
| SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0003a0001c0005t0001a0001c0005t0002others(59): Show | a0001c0004t0003g0071a0001c0005t0001g0030a0001c0005t0002g0044others(75): Show | 78 | 150 | 0.5200 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SYNE2_chr14_63848004_64231433 | 64093374 | G | A | stop_gained | HIGH | HG00423.hp1 HG00741.hp1 HG01496.hp2 others(25): Show |
a0003a0008a0012others(10): Show | a0003c0002a0003c0015a0003c0034others(16): Show | a0003c0002t0001a0003c0002t0006a0003c0002t0011others(18): Show | a0003c0002t0001g0005a0003c0002t0001g0006a0003c0002t0001g0010others(25): Show | 28 | 150 | 0.1867 | 0 | c.120 others(5): Show |
p.Trp others(5): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 61/116 | 12193/21822 | 12002/20724 | 4001/6907 | chr14 | TogoVar | ||
| TACR3_chr4_103581031_103724985 | 103653721 | TCTGCACA others(34695): Show |
T | exon_loss_variant | HIGH | NA19086.hp2 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0009 | 1 | 280 | 0.0036 | -34702 | c.549 others(18): Show |
TACR3 | ENSG00000169836.5 | transcript | ENST00000304883.3 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
| TAF11L10_chr5_17592232_17602828 | 17597711 | TGGGTGCT others(724): Show |
T | start_lost others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(147): Show |
a0002a0011 | a0002c0002a0002c0006a0011c0007 | a0002c0002t0000a0002c0006t0000a0011c0007t0000 | a0002c0002t0000g0000a0002c0006t0000g0000a0011c0007t0000g0000 | 150 | 352 | 0.4261 | -731 | c.-61 others(8): Show |
p.Met others(10): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1/1 | 117/597 | 1/597 | 1/198 | chr5 | TogoVar | ||
| TAFAZZIN_chrX_154406539_154426726 | 154413517 | A | AG | frameshift_variant | HIGH | NA19086.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0027 | 1 | 285 | 0.0035 | 1 | c.321 others(4): Show |
p.Leu others(5): Show |
TAFAZZIN | ENSG00000102125.17 | transcript | ENST00000601016.6 | protein_coding | 4/11 | 627/1906 | 322/879 | 108/292 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| TAFAZZIN_chrX_154406539_154426726 | 154413568 | G | GC | splice_donor_variant others(1): Show |
HIGH | NA19086.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0027 | 1 | 285 | 0.0035 | 1 | c.370 others(12): Show |
TAFAZZIN | ENSG00000102125.17 | transcript | ENST00000601016.6 | protein_coding | 4/10 | chrX | TogoVar | ||||||
| TAFAZZIN_chrX_154406539_154426726 | 154419589 | C | CA | frameshift_variant | HIGH | NA19086.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0027 | 1 | 285 | 0.0035 | 1 | c.509 others(4): Show |
p.Asn others(5): Show |
TAFAZZIN | ENSG00000102125.17 | transcript | ENST00000601016.6 | protein_coding | 6/11 | 815/1906 | 510/879 | 170/292 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| TAFAZZIN_chrX_154406539_154426726 | 154419614 | T | TG | frameshift_variant | HIGH | NA19086.hp1 | a0004 | a0004c0007 | a0004c0007t0010 | a0004c0007t0010g0027 | 1 | 285 | 0.0035 | 1 | c.532 others(8): Show |
p.Phe others(5): Show |
TAFAZZIN | ENSG00000102125.17 | transcript | ENST00000601016.6 | protein_coding | 6/11 | 838/1906 | 533/879 | 178/292 | chrX | TogoVar | ||
| TARBP1_chr1_234386313_234484179 | 234401180 | C | A | splice_donor_variant others(1): Show |
HIGH | NA19086.hp1 | a0033 | a0033c0072 | a0033c0072t0001 | a0033c0072t0001g0073 | 1 | 274 | 0.0037 | 0 | c.407 others(6): Show |
TARBP1 | ENSG00000059588.10 | transcript | ENST00000040877.2 | protein_coding | 25/29 | chr1 | TogoVar | ||||||
| TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(270): Show | 274 | 310 | 0.8839 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |