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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMKR1_chr7_129497531_129517918 | 129501338 | CGTCACCT others(2019): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02486.hp2 HG02572.hp1 HG02717.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0013 | 5 | 422 | 0.0119 | -2026 | c.-14 others(11): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 1/2 | chr7 | 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 | ||
SPATA31A3_chr9_66981304_66997550 | 66988619 | G | A | stop_gained | HIGH | HG01081.hp1 HG01167.hp1 HG01192.hp1 others(19): Show |
a0006a0014a0018others(1): Show | a0006c0005a0006c0056a0006c0057others(4): Show | a0006c0005t0001a0006c0056t0001a0006c0057t0001others(4): Show | a0006c0005t0001g0009a0006c0005t0001g0023a0006c0005t0001g0036others(9): Show | 22 | 406 | 0.0542 | 0 | c.187 others(4): Show |
p.Gln others(4): Show |
SPATA31A3 | ENSG00000275969.3 | transcript | ENST00000428649.5 | protein_coding | 4/4 | 1908/4223 | 1879/4044 | 627/1347 | chr9 | TogoVar | ||
SPDYE21_chr7_67271941_67294005 | 67278874 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01123.hp2 HG01256.hp2 HG01496.hp2 others(14): Show |
a0005 | a0005c0005 | a0005c0005t0004a0005c0005t0012a0005c0005t0018 | a0005c0005t0004g0009a0005c0005t0004g0024a0005c0005t0004g0056others(4): Show | 17 | 460 | 0.0370 | 0 | c.160 others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 2/8 | chr7 | 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 |
a0002a0003a0009 | a0002c0005a0002c0006a0003c0012others(1): Show | a0002c0005t0001a0002c0006t0001a0003c0012t0001others(1): Show | a0002c0005t0001g0005a0002c0005t0001g0007a0002c0005t0001g0141others(3): Show | 16 | 344 | 0.0465 | -1390 | c.544 others(15): Show |
SPDYE3 | ENSG00000214300.7 | transcript | ENST00000332397.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | 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 | ||||||
SRGAP1_chr12_63839700_64167217 | 64097222 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0010a0001c0001t0118a0001c0001t0134others(15): Show | a0001c0001t0010g0157a0001c0001t0118g0078a0001c0001t0134g0119others(15): Show | 18 | 170 | 0.1059 | 1 | c.167 others(7): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSX2_chrX_52691896_52712178 | 52698073 | T | TC | frameshift_variant | HIGH | HG03098.hp1 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0070 | 1 | 98 | 0.0102 | 1 | c.481 others(4): Show |
p.Glu others(5): Show |
SSX2 | ENSG00000241476.9 | transcript | ENST00000337502.6 | protein_coding | 7/8 | 568/1281 | 481/567 | 161/188 | chrX | TogoVar | ||
ST13_chr22_40819535_40861639 | 40826539 | T | G | stop_lost | HIGH | HG03098.hp2 | a0000 | a0000c0004 | a0000c0004t0001 | a0000c0004t0001g0198 | 1 | 344 | 0.0029 | 0 | c.110 others(4): Show |
p.Ter others(11): Show |
ST13 | ENSG00000100380.15 | transcript | ENST00000216218.8 | protein_coding | 12/12 | 1208/3212 | 1109/1110 | 370/369 | chr22 | TogoVar | ||
STAG2_chrX_123956706_124107656 | 124061743 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01106.hp1 HG01167.hp1 HG01496.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0055others(13): Show | 16 | 276 | 0.0580 | 1 | c.153 others(7): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SUMO4_chr6_149395262_149406278 | 149400392 | A | G | start_lost | HIGH | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0000 | 7 | 418 | 0.0168 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
SUMO4 | ENSG00000177688.7 | transcript | ENST00000326669.6 | protein_coding | 1/1 | 131/1017 | 1/288 | 1/95 | 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 | 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 | |||||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(64): Show |
a0002a0007a0010 | a0002c0002a0007c0010a0010c0009 | a0002c0002t0000a0007c0010t0000a0010c0009t0000 | a0002c0002t0000g0000a0007c0010t0000g0000a0010c0009t0000g0000 | 67 | 295 | 0.2271 | 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(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 | |||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0162others(85): Show | 89 | 322 | 0.2764 | 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(9): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223a0001c0001t0002g0271a0001c0001t0002g0301others(115): Show | 118 | 318 | 0.3711 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | 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 | |
THEG_chr19_356747_381026 | 373531 | C | T | stop_gained others(1): Show |
HIGH | HG02145.hp2 HG02622.hp1 HG02818.hp1 others(9): Show |
a0004 | a0004c0007a0004c0015a0004c0016others(2): Show | a0004c0007t0012a0004c0007t0015a0004c0007t0028others(7): Show | a0004c0007t0012g0138a0004c0007t0012g0140a0004c0007t0015g0022others(9): Show | 12 | 370 | 0.0324 | 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 | ||
THOP1_chr19_2780503_2820807 | 2811719 | TGTCCTGA others(122): Show |
T | splice_donor_variant others(3): Show |
HIGH | HG02922.hp2 HG03098.hp1 HG03453.hp2 others(1): Show |
a0003 | a0003c0006a0003c0007 | a0003c0006t0008a0003c0007t0008a0003c0007t0022 | a0003c0006t0008g0061a0003c0006t0008g0062a0003c0007t0008g0065others(1): Show | 4 | 370 | 0.0108 | -129 | c.190 others(13): Show |
p.Ser others(13): Show |
THOP1 | ENSG00000172009.15 | transcript | ENST00000307741.11 | protein_coding | 12/13 | 2063/4761 | 1903/2070 | 635/689 | INFO_REALIGN_3_PRIME | chr19 | 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 | ||
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 | ||||||
TNFAIP8_chr5_119351019_119404688 | 119392800 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00741.hp2 HG01496.hp2 others(39): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015a0001c0002t0018others(22): Show | a0001c0002t0007g0211a0001c0002t0007g0215a0001c0002t0007g0220others(37): Show | 42 | 384 | 0.1094 | 1 | c.32- others(5): Show |
TNFAIP8 | ENSG00000145779.8 | transcript | ENST00000504771.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | 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 | ||
TNRC18_chr7_5301811_5428834 | 5388813 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00544.hp2 HG01109.hp1 others(19): Show |
a0003a0034a0036others(1): Show | a0003c0017a0003c0041a0003c0044others(18): Show | a0003c0017t0002a0003c0017t0007a0003c0041t0007others(19): Show | a0003c0017t0002g0020a0003c0017t0007g0129a0003c0041t0007g0164others(19): Show | 22 | 306 | 0.0719 | 1 | c.101 others(5): Show |
p.Pro others(5): Show |
TNRC18 | ENSG00000182095.15 | transcript | ENST00000430969.6 | protein_coding | 5/30 | 1647/10839 | 1010/8907 | 337/2968 | chr7 | TogoVar | ||
TPST2_chr22_26516996_26595132 | 26541248 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show |
a0002 | a0002c0002a0002c0011a0002c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(12): Show | a0002c0002t0001g0012a0002c0002t0001g0026a0002c0002t0001g0092others(23): Show | 26 | 400 | 0.0650 | 1 | c.382 others(4): Show |
p.Val others(5): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3/7 | 622/5653 | 382/1134 | 128/377 | chr22 | TogoVar | ||
TRIM48_chr11_55257155_55276114 | 55269336 | T | C | stop_lost | HIGH | HG01346.hp2 HG01433.hp1 HG02109.hp1 others(8): Show |
a0000 | a0000c0005a0000c0006a0000c0009others(1): Show | a0000c0005t0004a0000c0006t0004a0000c0006t0010others(2): Show | a0000c0005t0004g0028a0000c0005t0004g0056a0000c0005t0004g0057others(7): Show | 11 | 272 | 0.0404 | 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(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 | ||||||
TRIM64C_chr11_49048714_49064112 | 49056093 | AAGATCTC others(8012): Show |
A | exon_loss_variant | HIGH | HG01891.hp2 HG02896.hp1 HG03098.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0000 | a0006c0006t0000g0013a0006c0006t0000g0022a0006c0006t0000g0023 | 4 | 412 | 0.0097 | -8019 | c.-50 others(13): Show |
TRIM64C | ENSG00000214891.9 | transcript | ENST00000617704.1 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1184655 | GGCCTTCT others(101): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG00642.hp1 HG01433.hp2 HG01975.hp2 others(9): Show |
a0001a0005a0018others(1): Show | a0001c0002a0001c0016a0005c0012others(2): Show | a0001c0002t0001a0001c0016t0003a0005c0012t0003others(2): Show | a0001c0002t0001g0006a0001c0002t0001g0134a0001c0002t0001g0159others(6): Show | 12 | 382 | 0.0314 | -108 | c.126 others(12): Show |
p.Phe others(13): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 13/16 | 1261/2022 | 421/673 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
UBR2_chr6_42559029_42698505 | 42644198 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0162a0001c0001t0001g0168a0001c0001t0001g0169others(21): Show | 24 | 342 | 0.0702 | 1 | c.209 others(7): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044a0001c0001t0002g0102a0001c0001t0007g0016others(42): Show | 45 | 158 | 0.2848 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
UNC13C_chr15_53973441_54633605 | 54623784 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG01169.hp2 HG02809.hp1 HG02809.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0015a0001c0001t0036a0001c0001t0040others(6): Show | a0001c0001t0015g0070a0001c0001t0036g0089a0001c0001t0040g0121others(8): Show | 11 | 158 | 0.0696 | 1 | c.620 others(7): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr15 | 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 | a0002c0002a0002c0007a0002c0010others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0024a0002c0002t0001g0026a0002c0002t0001g0027others(38): Show | 41 | 322 | 0.1273 | -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 | ||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 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 |
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 | ||||||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(234): Show | 239 | 358 | 0.6676 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/10 | 125/4616 | 2/1284 | 1/427 | chr12 | TogoVar | ||
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar | ||
WDR27_chr6_169452212_169707029 | 169636370 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01069.hp1 HG01099.hp1 HG01257.hp2 others(9): Show |
a0002a0007a0013others(2): Show | a0002c0026a0007c0012a0007c0017others(3): Show | a0002c0026t0003a0007c0012t0003a0007c0012t0004others(6): Show | a0002c0026t0003g0249a0002c0026t0003g0250a0007c0012t0003g0246others(9): Show | 12 | 294 | 0.0408 | 0 | c.200 others(6): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 19/25 | chr6 | TogoVar | ||||||
ZAN_chr7_100728595_100802797 | 100773853 | TG | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0003a0005a0006others(34): Show | a0003c0003a0003c0033a0003c0041others(71): Show | a0003c0003t0001a0003c0033t0001a0003c0041t0001others(71): Show | a0003c0003t0001g0096a0003c0003t0001g0112a0003c0003t0001g0113others(148): Show | 151 | 308 | 0.4903 | -1 | c.576 others(5): Show |
p.Cys others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5964/8700 | 5768/8439 | 1923/2812 | chr7 | TogoVar | ||
ZC2HC1A_chr8_78661089_78724765 | 78686431 | G | GTTTA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0009others(36): Show | 56 | 262 | 0.2137 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZC3H12B_chrX_65029826_65512887 | 65497128 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0128a0001c0001t0002g0142others(55): Show | 58 | 165 | 0.3515 | 1 | c.609 others(6): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ZFHX4_chr8_76676247_76872281 | 76853081 | CCT | C | frameshift_variant | HIGH | HG00621.hp2 HG01081.hp1 HG01175.hp1 others(17): Show |
a0006a0010a0033 | a0006c0009a0006c0016a0006c0029others(5): Show | a0006c0009t0001a0006c0009t0006a0006c0016t0001others(7): Show | a0006c0009t0001g0008a0006c0009t0001g0028a0006c0009t0001g0059others(17): Show | 20 | 244 | 0.0820 | -2 | c.616 others(11): Show |
p.Pro others(6): Show |
ZFHX4 | ENSG00000091656.19 | transcript | ENST00000651372.2 | protein_coding | 10/11 | 6582/13987 | 6162/10851 | 2054/3616 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |
ZFPM1_chr16_88448280_88542031 | 88533292 | CTCTGG | C | frameshift_variant | HIGH | HG00741.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
a0018a0019a0020others(4): Show | a0018c0077a0019c0076a0020c0075others(4): Show | a0018c0077t0017a0019c0076t0022a0020c0075t0060others(4): Show | a0018c0077t0017g0295a0019c0076t0022g0182a0020c0075t0060g0165others(4): Show | 7 | 318 | 0.0220 | -5 | c.133 others(14): Show |
p.Leu others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 1694/5432 | 1335/3021 | 445/1006 | chr16 | TogoVar | ||
ZFPM1_chr16_88448280_88542031 | 88533830 | G | GC | frameshift_variant | HIGH | HG01192.hp2 HG02027.hp1 HG02071.hp1 others(8): Show |
a0010a0011a0014others(3): Show | a0010c0020a0011c0024a0011c0041others(4): Show | a0010c0020t0002a0010c0020t0015a0010c0020t0016others(7): Show | a0010c0020t0002g0003a0010c0020t0015g0252a0010c0020t0016g0195others(8): Show | 11 | 318 | 0.0346 | 1 | c.187 others(5): Show |
p.Gly others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 2238/5432 | 1879/3021 | 627/1006 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0010a0016 | a0003c0003a0003c0004a0003c0021others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003a0003c0003t0001g0080a0003c0003t0003g0035others(34): Show | 64 | 410 | 0.1561 | 1 | c.431 others(4): Show |
p.Pro others(5): Show |
ZIC5 | ENSG00000139800.9 | transcript | ENST00000267294.5 | protein_coding | 1/2 | 595/4497 | 431/1920 | 144/639 | chr13 | TogoVar | ||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar |