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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC17A1_chr6_25777915_25837052 | 25798815 | C | T | stop_gained | HIGH | HG02895.hp1 HG02970.hp2 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0026 | 2 | 346 | 0.0058 | 0 | c.137 others(4): Show |
p.Trp others(4): Show |
SLC17A1 | ENSG00000124568.12 | transcript | ENST00000244527.10 | protein_coding | 12/13 | 1483/1819 | 1374/1404 | 458/467 | chr6 | 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 | |||||||
SLC22A25_chr11_63153437_63248599 | 63228566 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG02055.hp1 HG02109.hp2 others(27): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0005others(4): Show | a0002c0002t0004a0002c0002t0007a0002c0002t0022others(16): Show | a0002c0002t0004g0153 a0002c0002t0007g0154 a0002c0002t0022g0280 others(25): Show |
30 | 342 | 0.0877 | 0 | c.403 others(5): Show |
SLC22A25 | ENSG00000196600.13 | transcript | ENST00000306494.11 | protein_coding | 4/11 | 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 | |||
SLC25A36_chr3_140936836_140985995 | 140956506 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00738.hp1 HG01243.hp1 HG02559.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0016a0001c0001t0022others(6): Show | a0001c0001t0008g0003 a0001c0001t0008g0212 a0001c0001t0008g0213 others(11): Show |
17 | 261 | 0.0651 | 1 | c.42- others(5): Show |
SLC25A36 | ENSG00000114120.14 | transcript | ENST00000324194.12 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||
SPANXB1_chrX_140997594_141008706 | 141003560 | C | CTGAATGA others(36008): Show |
stop_gained others(1): Show |
HIGH | HG02970.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0001 | 1 | 107 | 0.0093 | 36015 | c.255 others(36022): Show |
p.Pro others(36026): Show |
SPANXB1 | ENSG00000227234.2 | transcript | ENST00000449283.2 | protein_coding | 2/2 | 356/466 | 256/312 | 86/103 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
SPATA22_chr17_3435019_3476819 | 3471678 | GCA | G | splice_donor_variant others(2): Show |
HIGH | HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 others(39): Show |
49 | 418 | 0.1172 | -2 | c.-74 others(13): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46183501 | GGGAGACC others(309): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG00639.hp1 HG01433.hp1 HG01517.hp1 others(11): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0005a0005c0006others(1): Show | a0001c0001t0009a0004c0005t0013a0004c0005t0019others(2): Show | a0001c0001t0009g0179 a0001c0001t0009g0180 a0001c0001t0009g0181 others(11): Show |
14 | 250 | 0.0560 | -316 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 686 | chr21 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46183550 | GCGGGGAG others(240): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG01074.hp2 HG01884.hp1 HG01884.hp2 others(21): Show |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0003a0002c0002t0022a0002c0002t0023others(1): Show | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0044 others(15): Show |
24 | 250 | 0.0960 | -247 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 735 | chr21 | TogoVar | ||||||
SPDYE3_chr7_100302702_100327196 | 100310737 | ACAACAGA others(1383): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG01081.hp2 HG01167.hp1 HG01169.hp1 others(13): Show |
a0002a0007 | a0002c0003a0007c0013 | a0002c0003t0001a0007c0013t0001 | a0002c0003t0001g0007 a0002c0003t0001g0009 a0007c0013t0001g0007 |
16 | 335 | 0.0478 | -1390 | c.544 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | 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 | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0060 others(59): Show |
98 | 342 | 0.2866 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | 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 | a0001c0004t0002a0001c0005t0001a0001c0005t0003others(59): Show | a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show |
78 | 143 | 0.5455 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | 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 |
a0002 | a0002c0002a0002c0006a0002c0007 | a0002c0002t0001a0002c0006t0001a0002c0007t0001 | a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0007t0001g0000 |
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 | |||
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 | ||||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show |
89 | 320 | 0.2781 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBKBP1_chr17_47689161_47717052 | 47709405 | A | AC | frameshift_variant | HIGH | HG02970.hp2 HG03516.hp2 NA18981.hp1 others(6): Show |
a0002a0005a0015others(1): Show | a0002c0024a0005c0009a0005c0015others(2): Show | a0002c0024t0001a0005c0009t0001a0005c0015t0001others(2): Show | a0002c0024t0001g0083 a0005c0009t0001g0005 a0005c0009t0001g0059 others(6): Show |
9 | 384 | 0.0234 | 1 | c.167 others(5): Show |
p.Ala others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1743/3342 | 1675/1848 | 559/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TCP11X2_chrX_102455315_102476812 | 102464550 | G | A | stop_gained | HIGH | HG02970.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0053 | 1 | 137 | 0.0073 | 0 | c.517 others(3): Show |
p.Arg others(4): Show |
TCP11X2 | ENSG00000215029.12 | transcript | ENST00000642911.3 | protein_coding | 5/10 | 568/1758 | 517/1509 | 173/502 | chrX | TogoVar | |||
TEKTIP1_chr19_3534174_3549030 | 3539216 | C | CCCCTCGG others(3): Show |
frameshift_variant | HIGH | HG02257.hp2 HG02965.hp2 HG02970.hp1 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0025 a0005c0005t0001g0033 |
5 | 440 | 0.0114 | 10 | c.46_ others(15): Show |
p.Glu others(4): Show |
TEKTIP1 | ENSG00000183397.6 | transcript | ENST00000329493.6 | protein_coding | 1/4 | 60/654 | 56/630 | 19/209 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
TEX22_chr14_105393538_105418859 | 105399471 | G | GA | frameshift_variant | HIGH | HG02055.hp1 HG02257.hp2 HG02965.hp1 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0004 | a0002c0004t0001g0024 a0002c0004t0001g0168 a0002c0004t0001g0169 others(1): Show |
5 | 366 | 0.0137 | 1 | c.132 others(4): Show |
p.Leu others(4): Show |
TEX22 | ENSG00000226174.7 | transcript | ENST00000451127.3 | protein_coding | 2/4 | 270/2616 | 133/453 | 45/150 | INFO_REALIGN_3_PRIME | chr14 | 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 | |||
THRB_chr3_24112153_24499850 | 24122027 | CACAGAAA others(2968): Show |
C | stop_lost others(2): Show |
HIGH | HG02970.hp1 | a0003 | a0003c0004 | a0003c0004t0023 | a0003c0004t0023g0131 | 1 | 176 | 0.0057 | -2975 | c.114 others(14): Show |
p.Asp others(19): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 11/11 | 2701/7576 | 1145/1386 | 382/461 | chr3 | TogoVar | |||
THRB_chr3_24112153_24499850 | 24125043 | ATTCACAG others(4775): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02970.hp1 | a0003 | a0003c0004 | a0003c0004t0023 | a0003c0004t0023g0131 | 1 | 176 | 0.0057 | -4782 | c.886 others(18): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 10/11 | chr3 | 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 | |||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show |
175 | 267 | 0.6554 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | 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 | |||
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 | |||||||
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 | |||
TRIM48_chr11_55257155_55276114 | 55269336 | T | C | stop_lost | HIGH | HG01346.hp2 HG01433.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(4): Show |
11 | 270 | 0.0407 | 0 | c.673 others(3): Show |
p.Ter others(11): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 5/6 | 786/1467 | 673/675 | 225/224 | chr11 | TogoVar | |||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0011a0012 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show |
139 | 422 | 0.3294 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | |||
TRIM51_chr11_55878297_55896810 | 55885840 | G | T | splice_donor_variant others(1): Show |
HIGH | HG02970.hp1 HG03516.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053 | 2 | 434 | 0.0046 | 0 | c.411 others(5): Show |
TRIM51 | ENSG00000124900.12 | transcript | ENST00000449290.6 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
TRPM1_chr15_30996065_31106725 | 31002511 | C | A | stop_gained | HIGH | HG00733.hp2 HG01099.hp1 HG01257.hp2 others(20): Show |
a0005a0007a0008 | a0005c0007a0005c0025a0005c0045others(7): Show | a0005c0007t0001a0005c0025t0001a0005c0045t0001others(7): Show | a0005c0007t0001g0023 a0005c0007t0001g0089 a0005c0007t0001g0091 others(18): Show |
23 | 254 | 0.0906 | 0 | c.418 others(4): Show |
p.Glu others(5): Show |
TRPM1 | ENSG00000134160.17 | transcript | ENST00000256552.11 | protein_coding | 28/28 | 4341/5787 | 4189/4878 | 1397/1625 | chr15 | 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 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | |||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0005c0005others(1): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0000 a0004c0003t0001g0000 a0005c0005t0001g0000 others(1): Show |
65 | 274 | 0.2372 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
UGT2B10_chr4_68810994_68837023 | 68822269 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0023a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show |
63 | 460 | 0.1370 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(254): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(38): Show |
a0002 | a0002c0002a0002c0006a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show |
41 | 299 | 0.1371 | -261 | c.735 others(11): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | |||
USP17L20_chr4_9253124_9264716 | 9258137 | C | CACTCTAC others(3): Show |
frameshift_variant | HIGH | HG02970.hp2 | a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0000 | 1 | 234 | 0.0043 | 10 | c.15_ others(15): Show |
p.Gly others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 25/1593 | 25/1593 | 9/530 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
USP17L20_chr4_9253124_9264716 | 9259327 | C | T | stop_gained | HIGH | HG02486.hp2 HG02818.hp1 HG02970.hp1 others(1): Show |
a0006a0016 | a0006c0007a0016c0012 | a0006c0007t0001a0016c0012t0001 | a0006c0007t0001g0000 a0016c0012t0001g0000 |
4 | 234 | 0.0171 | 0 | c.120 others(4): Show |
p.Arg others(4): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 1204/1593 | 1204/1593 | 402/530 | chr4 | TogoVar | |||
USP17L2_chr8_12131435_12143849 | 12135283 | ATAGCATA others(4731): Show |
A | transcript_ablation | HIGH | HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 16 | 194 | 0.0825 | -4738 | c.-12 others(11): Show |
p.0? | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0042others(26): Show | a0001c0001t0001a0001c0001t0021a0001c0009t0002others(44): Show | a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show |
137 | 270 | 0.5074 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | TogoVar |