| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RTP5_chr2_241864729_241878823 | 241869757 | A | G | start_lost | HIGH | HG01175.hp1 | a0025 | a0025c0029 | a0025c0029t0014 | a0025c0029t0014g0001 | 1 | 365 | 0.0027 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 1/2 | 29/2296 | 1/1719 | 1/572 | chr2 | TogoVar | ||
| RXFP2_chr13_31734526_31808389 | 31786554 | T | TAA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00639.hp2 others(99): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0012a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(97): Show | 102 | 386 | 0.2643 | 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 |
a0002a0003a0005others(4): Show | a0002c0002a0002c0022a0003c0003others(5): Show | a0002c0002t0002a0002c0022t0002a0003c0003t0002others(9): Show | a0002c0002t0002g0190a0002c0002t0002g0194a0002c0002t0002g0219others(114): Show | 117 | 312 | 0.3750 | 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 | 133457333 | TC | T | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show |
a0003a0004 | a0003c0003a0003c0007a0003c0008others(16): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(20): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(62): Show | 93 | 434 | 0.2143 | -1 | c.444 others(4): Show |
p.Glu others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 3/12 | 497/4929 | 444/3084 | 148/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| SCART1_chr10_133448945_133474760 | 133464740 | CTGGGGTG | C | frameshift_variant | HIGH | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show |
a0003a0004a0009others(8): Show | a0003c0003a0003c0007a0003c0008others(24): Show | a0003c0003t0003a0003c0007t0003a0003c0008t0003others(28): Show | a0003c0003t0003g0005a0003c0003t0003g0007a0003c0003t0003g0023others(69): Show | 102 | 434 | 0.2350 | -7 | c.211 others(16): Show |
p.Val others(5): Show |
SCART1 | ENSG00000214279.13 | transcript | ENST00000640237.2 | protein_coding | 7/12 | 2170/4929 | 2117/3084 | 706/1027 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| SERPINB11_chr18_63697960_63728893 | 63712604 | G | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(201): Show |
a0001a0004a0013 | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0005t0002a0001c0005t0005others(18): Show | a0001c0002t0001g0001a0001c0002t0001g0010a0001c0002t0001g0014others(79): Show | 204 | 422 | 0.4834 | 0 | c.268 others(3): Show |
p.Glu others(3): Show |
SERPINB11 | ENSG00000206072.13 | transcript | ENST00000544088.6 | protein_coding | 4/8 | 330/1735 | 268/1179 | 90/392 | chr18 | TogoVar | ||
| SFSWAP_chr12_131706090_131804738 | 131797206 | C | CG | frameshift_variant | HIGH | HG01175.hp2 HG02257.hp1 HG02559.hp1 others(2): Show |
a0000 | a0000c0005a0000c0023 | a0000c0005t0001a0000c0023t0001 | a0000c0005t0001g0120a0000c0005t0001g0121a0000c0005t0001g0199others(2): Show | 5 | 318 | 0.0157 | 1 | c.256 others(5): Show |
p.Ser others(5): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 16/18 | 2706/3246 | 2566/2856 | 856/951 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| SHISA7_chr19_55423740_55448300 | 55433477 | C | CG | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 HG01261.hp1 others(7): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0007others(1): Show | a0000c0002t0001g0064a0000c0002t0001g0070a0000c0002t0001g0089others(7): Show | 10 | 372 | 0.0269 | 1 | c.129 others(5): Show |
p.Arg others(5): Show |
SHISA7 | ENSG00000187902.13 | transcript | ENST00000376325.10 | protein_coding | 4/4 | 1732/6470 | 1295/1617 | 432/538 | chr19 | TogoVar | ||
| SHPK_chr17_3603240_3641250 | 3624187 | G | A | stop_gained | HIGH | HG01175.hp2 | a0007 | a0007c0016 | a0007c0016t0007 | a0007c0016t0007g0056 | 1 | 382 | 0.0026 | 0 | c.355 others(3): Show |
p.Arg others(4): Show |
SHPK | ENSG00000197417.9 | transcript | ENST00000225519.5 | protein_coding | 3/7 | 386/3788 | 355/1437 | 119/478 | chr17 | TogoVar | ||
| SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
| SIRPG_chr20_1624152_1662779 | 1636335 | G | A | stop_gained | HIGH | HG01175.hp2 | a0012 | a0012c0030 | a0012c0030t0002 | a0012c0030t0002g0270 | 1 | 396 | 0.0025 | 0 | c.601 others(3): Show |
p.Gln others(4): Show |
SIRPG | ENSG00000089012.14 | transcript | ENST00000303415.7 | protein_coding | 3/6 | 666/1716 | 601/1164 | 201/387 | chr20 | TogoVar | ||
| SLAIN1_chr13_77692687_77769229 | 77698132 | T | TGG | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 2 | c.220 others(9): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 449/3009 | 222/1773 | 74/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SLAIN1_chr13_77692687_77769229 | 77698141 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(279): Show | 299 | 300 | 0.9967 | 1 | c.230 others(4): Show |
p.Leu others(4): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/7 | 458/3009 | 231/1773 | 77/590 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |
| SLC17A9_chr20_62947709_62974585 | 62960578 | AT | A | frameshift_variant | HIGH | HG00741.hp2 HG01099.hp1 HG01175.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0011 | 5 | 432 | 0.0116 | -1 | c.473 others(4): Show |
p.Ile others(5): Show |
SLC17A9 | ENSG00000101194.18 | transcript | ENST00000370351.9 | protein_coding | 4/13 | 595/3518 | 473/1311 | 158/436 | chr20 | 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 | ||||||
| SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -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 | ||
| SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 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 | ||
| SMN2_chr5_70044669_70082595 | 70072861 | GCCTGTAA others(6303): Show |
G | exon_loss_variant | HIGH | HG01074.hp1 HG01175.hp1 HG01192.hp2 |
a0000 | a0000c0005 | a0000c0005t0003 | a0000c0005t0003g0009a0000c0005t0003g0080 | 3 | 108 | 0.0278 | -6310 | c.834 others(14): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
| SNX27_chr1_151607050_151704080 | 151692406 | C | CTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG01081.hp2 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(6): Show | a0001c0001t0003g0145a0001c0001t0003g0149a0001c0001t0007g0228others(11): Show | 14 | 366 | 0.0383 | 3 | c.124 others(16): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | 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 | ||
| SPATA2L_chr16_89691357_89706705 | 89697587 | A | AC | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp2 HG01175.hp2 others(17): Show |
a0002 | a0002c0004a0002c0007a0002c0009others(1): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(5): Show | a0002c0004t0001g0019a0002c0004t0001g0060a0002c0004t0001g0072others(12): Show | 20 | 418 | 0.0479 | 1 | c.102 others(5): Show |
p.Val others(5): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 3/3 | 1100/2331 | 1021/1275 | 341/424 | chr16 | TogoVar | ||
| SPATA4_chr4_176179579_176200585 | 176184858 | TTCTC | T | frameshift_variant | HIGH | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(12): Show |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0001 | a0002c0005t0001g0012a0002c0005t0001g0063a0002c0005t0001g0079others(2): Show | 15 | 456 | 0.0329 | -4 | c.836 others(11): Show |
p.Arg others(5): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 6/6 | 862/1142 | 836/918 | 279/305 | chr4 | TogoVar | ||
| SPATC1L_chr21_46156160_46189459 | 46183498 | CAGGGGAG others(309): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(29): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0006a0001c0001t0008a0001c0003t0005others(5): Show | a0001c0001t0006g0010a0001c0001t0006g0035a0001c0001t0006g0064others(26): Show | 32 | 251 | 0.1275 | -316 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 683 | chr21 | TogoVar | |||||
| SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| STAG2_chrX_123956706_124107656 | 124051099 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01106.hp1 HG01123.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0053a0001c0001t0001g0085others(17): Show | 20 | 276 | 0.0725 | 1 | c.101 others(7): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| STAG2_chrX_123956706_124107656 | 124061743 | C | CTTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00558.hp1 HG01175.hp2 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0042a0001c0001t0002g0050others(2): Show | 5 | 276 | 0.0181 | 4 | c.153 others(17): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| STPG4_chr2_47081991_47160308 | 47155227 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG00735.hp1 HG01109.hp2 others(8): Show |
a0004a0011 | a0004c0004a0004c0005a0011c0009 | a0004c0004t0001a0004c0005t0001a0011c0009t0001 | a0004c0004t0001g0007a0004c0004t0001g0008a0004c0004t0001g0009others(8): Show | 11 | 352 | 0.0313 | 1 | c.24d others(3): Show |
p.Ala others(3): Show |
STPG4 | ENSG00000239605.11 | transcript | ENST00000445927.7 | protein_coding | 1/7 | 81/821 | 24/747 | 8/248 | chr2 | TogoVar | ||
| SULT1C3_chr2_108234968_108265886 | 108259008 | AAAACTTG others(15): Show |
A | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(53): Show |
a0003a0022a0024 | a0003c0002a0003c0031a0022c0022others(1): Show | a0003c0002t0001a0003c0002t0004a0003c0031t0004others(2): Show | a0003c0002t0001g0094a0003c0002t0001g0134a0003c0002t0004g0002others(19): Show | 56 | 376 | 0.1489 | -22 | c.669 others(29): Show |
p.Trp others(5): Show |
SULT1C3 | ENSG00000196228.5 | transcript | ENST00000681802.2 | protein_coding | 7/8 | 792/1244 | 669/915 | 223/304 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| TAAR9_chr6_132533277_132544336 | 132538470 | A | T | stop_gained | HIGH | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(71): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0001 | a0002c0002t0001g0000a0002c0006t0001g0000 | 74 | 430 | 0.1721 | 0 | c.181 others(3): Show |
p.Lys others(3): Show |
TAAR9 | ENSG00000237110.3 | transcript | ENST00000434551.3 | protein_coding | 1/1 | 194/1060 | 181/1047 | 61/348 | chr6 | TogoVar | ||
| TAMALIN_chr12_52001946_52020889 | 52014908 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(15): Show | 35 | 380 | 0.0921 | 1 | c.902 others(4): Show |
p.Pro others(5): Show |
TAMALIN | ENSG00000161835.11 | transcript | ENST00000293662.9 | protein_coding | 8/8 | 977/1952 | 903/1188 | 301/395 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
| TBKBP1_chr17_47689161_47717052 | 47709026 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0002a0003a0007others(6): Show | a0002c0005a0002c0011a0002c0023others(10): Show | a0002c0005t0001a0002c0005t0005a0002c0011t0001others(12): Show | a0002c0005t0001g0003a0002c0005t0001g0007a0002c0005t0001g0022others(36): Show | 40 | 386 | 0.1036 | 1 | c.129 others(5): Show |
p.Pro others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1367/3342 | 1299/1848 | 433/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
| TEDC1_chr14_105486246_105504248 | 105497878 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(27): Show |
a0000 | a0000c0003a0000c0010a0000c0011others(4): Show | a0000c0003t0001a0000c0003t0003a0000c0003t0005others(8): Show | a0000c0003t0001g0002a0000c0003t0001g0006a0000c0003t0001g0009others(23): Show | 30 | 436 | 0.0688 | 1 | c.106 others(5): Show |
p.Gly others(5): Show |
TEDC1 | ENSG00000185347.19 | transcript | ENST00000392523.9 | protein_coding | 8/9 | 1195/1920 | 1065/1488 | 355/495 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(190): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0020others(31): Show | 193 | 436 | 0.4427 | -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 | ||
| TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 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 | ||
| 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 | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | ||||||
| TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0082a0001c0005t0001g0120a0001c0005t0001g0121others(118): Show | 125 | 348 | 0.3592 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
| TNIP1_chr5_151024945_151086034 | 151033665 | A | AG | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(22): Show |
a0003a0010a0013others(2): Show | a0003c0003a0003c0009a0010c0024others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0067a0003c0003t0001g0100a0003c0003t0001g0207others(22): Show | 25 | 402 | 0.0622 | 1 | c.172 others(5): Show |
p.Pro others(5): Show |
TNIP1 | ENSG00000145901.16 | transcript | ENST00000521591.6 | protein_coding | 16/18 | 1912/2870 | 1721/1911 | 574/636 | chr5 | TogoVar | ||
| TNK2_chr3_195858364_195913551 | 195867836 | C | CG | frameshift_variant | HIGH | HG00741.hp2 HG01175.hp2 HG01934.hp1 others(5): Show |
a0002a0006a0014others(2): Show | a0002c0067a0002c0072a0006c0025others(4): Show | a0002c0067t0001a0002c0072t0001a0006c0025t0001others(4): Show | a0002c0067t0001g0082a0002c0072t0001g0091a0006c0025t0001g0096others(5): Show | 8 | 372 | 0.0215 | 1 | c.246 others(5): Show |
p.Arg others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2546/4070 | 2461/3168 | 821/1055 | chr3 | TogoVar | ||
| TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0013a0016others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0131a0002c0004t0001g0256a0002c0004t0001g0279others(50): Show | 53 | 372 | 0.1425 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | ||
| TPSD1_chr16_1251069_1264008 | 1256558 | AG | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show |
a0002a0004 | a0002c0002a0002c0012a0002c0018others(3): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(23): Show | a0002c0002t0002g0002a0002c0002t0002g0012a0002c0002t0002g0015others(27): Show | 72 | 270 | 0.2667 | -1 | c.127 others(4): Show |
p.Glu others(4): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2/5 | 339/1573 | 127/729 | 43/242 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(74): Show | 274 | 424 | 0.6462 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
| TSPAN19_chr12_85009317_85041277 | 85017565 | C | T | stop_gained | HIGH | HG01175.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0108 | 1 | 350 | 0.0029 | 0 | c.485 others(3): Show |
p.Trp others(4): Show |
TSPAN19 | ENSG00000231738.11 | transcript | ENST00000532498.7 | protein_coding | 7/9 | 586/1018 | 485/747 | 162/248 | chr12 | TogoVar | ||
| TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002a0001c0002t0002g0003a0001c0002t0002g0006others(31): Show | 177 | 428 | 0.4136 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| UGT2A1_chr4_69583417_69658247 | 69647069 | A | T | stop_gained | HIGH | HG00735.hp1 HG01123.hp1 HG01175.hp1 |
a0006 | a0006c0006a0006c0008 | a0006c0006t0002a0006c0008t0001 | a0006c0006t0002g0076a0006c0006t0002g0077a0006c0008t0001g0060 | 3 | 376 | 0.0080 | 0 | c.576 others(3): Show |
p.Tyr others(4): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 2/7 | 690/2653 | 576/1584 | 192/527 | chr4 | TogoVar | ||
| VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0000a0001a0003others(40): Show | a0000c0083a0001c0001a0001c0088others(48): Show | a0000c0083t0031a0001c0001t0001a0001c0001t0008others(61): Show | a0000c0083t0031g0037a0001c0001t0001g0001a0001c0001t0001g0014others(72): Show | 137 | 271 | 0.5055 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar |