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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | |||
PKD2L1_chr10_100283149_100335228 | 100296259 | G | A | stop_gained | HIGH | HG01109.hp2 HG01884.hp2 HG01891.hp1 others(16): Show |
a0004a0009 | a0004c0005a0004c0015a0004c0022others(1): Show | a0004c0005t0001a0004c0015t0001a0004c0022t0001others(1): Show | a0004c0005t0001g0065 a0004c0005t0001g0195 a0004c0005t0001g0201 others(16): Show |
19 | 304 | 0.0625 | 0 | c.121 others(4): Show |
p.Arg others(4): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 7/16 | 1344/2790 | 1219/2418 | 407/805 | chr10 | TogoVar | |||
PLA2G2C_chr1_20158055_20191518 | 20175089 | G | A | stop_gained | HIGH | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(81): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0003t0002a0003c0006t0001 | a0003c0003t0001g0002 a0003c0003t0001g0016 a0003c0003t0001g0025 others(57): Show |
84 | 406 | 0.2069 | 0 | c.97C others(2): Show |
p.Arg others(3): Show |
PLA2G2C | ENSG00000187980.7 | transcript | ENST00000679259.1 | protein_coding | 3/5 | 332/1621 | 97/450 | 33/149 | chr1 | TogoVar | |||
PLD2_chr17_4802152_4828430 | 4821901 | T | G | stop_gained | HIGH | HG02818.hp2 | a0019 | a0019c0042 | a0019c0042t0001 | a0019c0042t0001g0129 | 1 | 448 | 0.0022 | 0 | c.257 others(4): Show |
p.Tyr others(4): Show |
PLD2 | ENSG00000129219.14 | transcript | ENST00000263088.11 | protein_coding | 24/25 | 2646/3443 | 2571/2802 | 857/933 | chr17 | TogoVar | |||
PLEKHB1_chr11_73641581_73667819 | 73660839 | A | AGGTAAGT others(3): Show |
frameshift_variant | HIGH | HG02622.hp2 HG02818.hp1 HG03486.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 a0002c0002t0001g0055 |
3 | 414 | 0.0072 | 10 | c.582 others(17): Show |
p.Pro others(5): Show |
PLEKHB1 | ENSG00000021300.14 | transcript | ENST00000354190.10 | protein_coding | 7/8 | 611/1977 | 583/732 | 195/243 | chr11 | TogoVar | |||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show |
210 | 428 | 0.4907 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
POFUT2_chr21_45258935_45292895 | 45265636 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG02818.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0135 | 1 | 434 | 0.0023 | 0 | c.113 others(6): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 8/8 | chr21 | TogoVar | |||||||
POLR3B_chr12_106352748_106515198 | 106427179 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0016 | a0001c0001t0001a0001c0001t0009a0001c0011t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show |
58 | 158 | 0.3671 | 1 | c.110 others(7): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POMZP3_chr7_76604986_76632279 | 76611468 | CA | C | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show |
a0002a0004a0005others(3): Show | a0002c0002a0002c0007a0002c0009others(6): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(25): Show | a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show |
211 | 422 | 0.5000 | -1 | c.560 others(4): Show |
p.Leu others(5): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 6/7 | 1283/1528 | 560/564 | 187/187 | chr7 | TogoVar | |||
PRRG2_chr19_49576316_49596004 | 49590370 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG02818.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 a0002c0002t0002g0078 |
2 | 344 | 0.0058 | 0 | c.591 others(5): Show |
PRRG2 | ENSG00000126460.11 | transcript | ENST00000246794.10 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
PRSS48_chr4_151272161_151296862 | 151291451 | T | G | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show |
324 | 426 | 0.7606 | 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 | |||
PSG7_chr19_42919132_42942207 | 42935542 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show |
375 | 414 | 0.9058 | 0 | c.292 others(3): Show |
p.Arg others(3): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/6 | 423/2067 | 292/1260 | 98/419 | chr19 | TogoVar | |||
PSORS1C1_chr6_31109800_31145092 | 31138723 | TC | T | frameshift_variant | HIGH | HG00639.hp2 HG00642.hp1 HG00733.hp1 others(31): Show |
a0003 | a0003c0003a0003c0009 | a0003c0003t0004a0003c0003t0009a0003c0003t0011others(5): Show | a0003c0003t0004g0058 a0003c0003t0004g0059 a0003c0003t0004g0213 others(23): Show |
34 | 391 | 0.0870 | -1 | c.118 others(4): Show |
p.His others(4): Show |
PSORS1C1 | ENSG00000204540.11 | transcript | ENST00000259881.10 | protein_coding | 5/6 | 438/939 | 118/459 | 40/152 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
PSRC1_chr1_109274556_109288145 | 109282738 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 9 | 436 | 0.0206 | 0 | c.-38 others(5): Show |
PSRC1 | ENSG00000134222.16 | transcript | ENST00000369909.7 | protein_coding | 1/7 | chr1 | 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 | a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 others(84): Show |
87 | 311 | 0.2797 | 1 | c.802 others(6): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPN4_chr2_119754922_119989899 | 119956825 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01243.hp2 HG01891.hp2 HG02109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005a0002c0002t0016others(1): Show | a0001c0001t0002g0234 a0002c0002t0005g0242 a0002c0002t0005g0243 others(8): Show |
11 | 248 | 0.0444 | 1 | c.198 others(7): Show |
PTPN4 | ENSG00000088179.9 | transcript | ENST00000263708.7 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PUSL1_chr1_1303597_1316677 | 1308915 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG01123.hp1 others(16): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0008t0001g0004 |
19 | 349 | 0.0544 | 1 | c.82d others(3): Show |
p.Val others(4): Show |
PUSL1 | ENSG00000169972.13 | transcript | ENST00000379031.10 | protein_coding | 2/8 | 130/1257 | 83/912 | 28/303 | INFO_REALIGN_3_PRIME | chr1 | 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 | a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show |
253 | 388 | 0.6521 | -1 | c.182 others(7): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 15/19 | chr14 | TogoVar | |||||||
RHBG_chr1_156364211_156390219 | 156384556 | T | TC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0002a0003a0005others(7): Show | a0002c0002a0002c0008a0002c0019others(16): Show | a0002c0002t0001a0002c0008t0001a0002c0019t0001others(16): Show | a0002c0002t0001g0003 a0002c0002t0001g0011 a0002c0002t0001g0014 others(130): Show |
231 | 436 | 0.5298 | 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 | ||
RWDD1_chr6_116566504_116602675 | 116590870 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00741.hp1 HG01243.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0003g0021 a0001c0001t0003g0032 a0001c0001t0003g0064 others(6): Show |
14 | 276 | 0.0507 | 1 | c.548 others(6): Show |
RWDD1 | ENSG00000111832.13 | transcript | ENST00000466444.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show |
101 | 227 | 0.4449 | 2 | c.100 others(15): Show |
RXFP2 | ENSG00000133105.8 | transcript | ENST00000298386.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SCAPER_chr15_76342904_76910340 | 76883817 | T | C | start_lost | HIGH | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show |
a0002a0011 | a0002c0002a0002c0003a0002c0011others(5): Show | a0002c0002t0002a0002c0003t0002a0002c0003t0005others(9): Show | a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show |
117 | 310 | 0.3774 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 2/32 | 102/5033 | 1/4203 | 1/1400 | chr15 | TogoVar | |||
SCART1_chr10_133448945_133474760 | 133457318 | GTCCCTGC others(7): Show |
G | frameshift_variant | HIGH | HG02559.hp1 HG02818.hp1 HG03098.hp1 others(1): Show |
a0010 | a0010c0017 | a0010c0017t0002 | a0010c0017t0002g0039 a0010c0017t0002g0139 a0010c0017t0002g0143 |
4 | 432 | 0.0093 | -14 | c.430 others(21): Show |
p.Cys others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 483/4929 | 430/3084 | 144/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
SERPINA9_chr14_94457721_94481197 | 94469291 | G | A | stop_gained | HIGH | HG00639.hp2 HG01891.hp1 HG02055.hp2 others(3): Show |
a0009a0019 | a0009c0016a0009c0021a0019c0039 | a0009c0016t0002a0009c0021t0006a0019c0039t0001 | a0009c0016t0002g0228 a0009c0016t0002g0246 a0009c0016t0002g0298 others(3): Show |
6 | 464 | 0.0129 | 0 | c.550 others(3): Show |
p.Gln others(4): Show |
SERPINA9 | ENSG00000170054.16 | transcript | ENST00000674397.2 | protein_coding | 2/5 | 629/1705 | 550/1254 | 184/417 | chr14 | TogoVar | |||
SIGLEC11_chr19_49943985_49966172 | 49960562 | TAGAA | T | frameshift_variant | HIGH | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show |
a0004a0007a0012others(3): Show | a0004c0004a0004c0008a0004c0015others(16): Show | a0004c0004t0001a0004c0004t0002a0004c0004t0005others(18): Show | a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show |
65 | 450 | 0.1444 | -4 | c.446 others(11): Show |
p.Phe others(5): Show |
SIGLEC11 | ENSG00000161640.15 | transcript | ENST00000447370.6 | protein_coding | 2/11 | 540/3173 | 446/2097 | 149/698 | chr19 | TogoVar | |||
SIGLEC12_chr19_51486227_51506800 | 51501649 | G | A | stop_gained | HIGH | HG00642.hp1 HG00733.hp2 HG00738.hp1 others(50): Show |
a0003 | a0003c0006a0003c0007a0003c0009others(12): Show | a0003c0006t0001a0003c0006t0004a0003c0007t0002others(15): Show | a0003c0006t0001g0140 a0003c0006t0001g0143 a0003c0006t0001g0144 others(28): Show |
53 | 430 | 0.1233 | 0 | c.85C others(2): Show |
p.Gln others(3): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 152/2269 | 85/1788 | 29/595 | chr19 | TogoVar | |||
SLC22A10_chr11_63284903_63316783 | 63290453 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show |
a0002a0011 | a0002c0002a0002c0009a0002c0012others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(78): Show |
162 | 400 | 0.4050 | 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 | |||
SLC22A24_chr11_63074940_63149221 | 63081015 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0007others(11): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(13): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(255): Show |
267 | 364 | 0.7335 | 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 |
a0003a0005a0009others(2): Show | a0003c0003a0003c0008a0005c0006others(4): Show | a0003c0003t0002a0003c0003t0003a0003c0003t0005others(7): Show | a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0026 others(77): Show |
86 | 364 | 0.2363 | 0 | c.402 others(5): Show |
SLC22A24 | ENSG00000197658.9 | transcript | ENST00000612278.4 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show |
a0002a0005a0006others(3): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show |
172 | 426 | 0.4038 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | |||
SLC25A45_chr11_65370192_65387646 | 65379923 | G | A | stop_gained | HIGH | HG02818.hp2 NA20129.hp2 |
a0011 | a0011c0011 | a0011c0011t0011 | a0011c0011t0011g0049 a0011c0011t0011g0104 |
2 | 410 | 0.0049 | 0 | c.97C others(2): Show |
p.Gln others(3): Show |
SLC25A45 | ENSG00000162241.13 | transcript | ENST00000398802.6 | protein_coding | 4/7 | 276/2261 | 97/867 | 33/288 | chr11 | TogoVar | |||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(313): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0001 others(13): Show |
316 | 410 | 0.7707 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | |||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004 a0001c0002t0001g0006 a0001c0002t0001g0010 others(140): Show |
181 | 453 | 0.3996 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | 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 | a0002c0002t0003g0003 a0002c0002t0003g0022 a0002c0002t0003g0060 others(25): Show |
59 | 454 | 0.1300 | 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 | |||
SMCO2_chr12_27441736_27507185 | 27495209 | GTTTTCTC others(7014): Show |
G | exon_loss_variant | HIGH | HG00099.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0003a0004 | a0003c0004a0003c0009a0003c0013others(1): Show | a0003c0004t0005a0003c0004t0006a0003c0009t0005others(2): Show | a0003c0004t0005g0023 a0003c0004t0005g0032 a0003c0004t0005g0252 others(15): Show |
21 | 358 | 0.0587 | -7021 | c.658 others(12): Show |
SMCO2 | ENSG00000165935.10 | transcript | ENST00000535986.2 | protein_coding | 8/9 | chr12 | 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(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0016 others(6): Show |
77 | 396 | 0.1944 | 0 | c.-96 others(5): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 1/2 | chr12 | TogoVar | |||||||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show |
a0002a0006a0010 | a0002c0002a0006c0009a0010c0010 | a0002c0002t0001a0006c0009t0001a0010c0010t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 |
66 | 294 | 0.2245 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | |||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
THEG_chr19_356747_381026 | 373531 | C | T | stop_gained others(1): Show |
HIGH | HG02145.hp2 HG02622.hp1 HG02818.hp1 others(9): Show |
a0004 | a0004c0005a0004c0008a0004c0014others(1): Show | a0004c0005t0002a0004c0005t0010a0004c0005t0011others(7): Show | a0004c0005t0002g0035 a0004c0005t0010g0011 a0004c0005t0011g0037 others(8): Show |
12 | 368 | 0.0326 | 0 | c.504 others(3): Show |
p.Trp others(4): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 4/8 | 560/1649 | 504/1140 | 168/379 | chr19 | TogoVar | |||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show |
192 | 434 | 0.4424 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | |||
TIGD6_chr5_149988118_150005654 | 149996157 | TC | T | frameshift_variant | HIGH | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0004a0006 | a0004c0004a0004c0006a0004c0007others(2): Show | a0004c0004t0006a0004c0004t0009a0004c0004t0017others(5): Show | a0004c0004t0006g0009 a0004c0004t0006g0016 a0004c0004t0006g0049 others(8): Show |
36 | 434 | 0.0829 | -1 | c.191 others(4): Show |
p.Gly others(4): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 453/3493 | 191/1566 | 64/521 | chr5 | TogoVar | |||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show |
165 | 301 | 0.5482 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | |||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003 | a0002c0002a0002c0010a0002c0015others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show |
100 | 392 | 0.2551 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
TMPRSS11A | ENSG00000187054.16 | transcript | ENST00000508048.6 | protein_coding | 1/10 | 103/3304 | 3/1257 | 1/418 | chr4 | TogoVar | |||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show |
102 | 470 | 0.2170 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGG | splice_acceptor_variant others(1): Show |
HIGH | HG01109.hp2 HG01243.hp2 HG01496.hp1 others(13): Show |
a0001a0002a0012others(1): Show | a0001c0004a0001c0005a0002c0001others(4): Show | a0001c0004t0001a0001c0004t0005a0001c0004t0006others(8): Show | a0001c0004t0001g0038 a0001c0004t0005g0260 a0001c0004t0006g0007 others(12): Show |
16 | 197 | 0.0812 | 5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | C | CTGGGGTG others(3): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01099.hp2 HG01884.hp1 HG01884.hp2 others(9): Show |
a0001a0013 | a0001c0007a0001c0017a0001c0020others(2): Show | a0001c0007t0001a0001c0017t0001a0001c0020t0001others(3): Show | a0001c0007t0001g0030 a0001c0007t0001g0102 a0001c0007t0001g0156 others(9): Show |
12 | 193 | 0.0622 | 10 | c.184 others(24): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TMT1B_chr12_55676736_55689611 | 55683984 | C | T | stop_gained | HIGH | HG01167.hp2 HG01169.hp1 HG01261.hp2 others(8): Show |
a0002a0005a0006 | a0002c0003a0005c0006a0006c0008 | a0002c0003t0001a0002c0003t0003a0005c0006t0001others(1): Show | a0002c0003t0001g0004 a0002c0003t0003g0004 a0005c0006t0001g0004 others(1): Show |
11 | 448 | 0.0246 | 0 | c.670 others(3): Show |
p.Arg others(4): Show |
TMT1B | ENSG00000170439.8 | transcript | ENST00000394252.4 | protein_coding | 2/2 | 689/1316 | 670/735 | 224/244 | chr12 | TogoVar | |||
TNFAIP3_chr6_137862259_137888312 | 137867485 | GCCCGGAG others(17): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00639.hp2 HG01099.hp1 HG01106.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0002 a0002c0002t0002g0084 a0002c0003t0002g0006 others(5): Show |
14 | 358 | 0.0391 | -24 | c.-21 others(34): Show |
TNFAIP3 | ENSG00000118503.18 | transcript | ENST00000612899.5 | protein_coding | 1/9 | 3668 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TNFRSF10D_chr8_23130588_23169027 | 23144611 | G | GACATGAA others(31782): Show |
frameshift_variant others(1): Show |
HIGH | HG02818.hp2 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0074 | 1 | 437 | 0.0023 | 31789 | c.792 others(31796): Show |
p.Pro others(5): Show |
TNFRSF10D | ENSG00000173530.6 | transcript | ENST00000312584.4 | protein_coding | 7/9 | 884/3535 | 792/1161 | 264/386 | chr8 | TogoVar | |||
TRIM17_chr1_228402935_228421861 | 228415115 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp2 HG01109.hp2 HG01261.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0004 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(4): Show |
17 | 410 | 0.0415 | 0 | c.-41 others(5): Show |
TRIM17 | ENSG00000162931.12 | transcript | ENST00000366698.7 | protein_coding | 1/6 | chr1 | TogoVar |