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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC25A52_chr18_31754584_31765880 | 31760070 | T | A | stop_gained | HIGH | HG02451.hp2 | a0009 | a0009c0007 | a0009c0007t0004 | a0009c0007t0004g0000 | 1 | 407 | 0.0025 | 0 | c.592 others(3): Show |
p.Lys others(4): Show |
SLC25A52 | ENSG00000141437.10 | transcript | ENST00000269205.7 | protein_coding | 1/1 | 811/1297 | 592/894 | 198/297 | chr18 | 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 | ||
SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007a0002c0002t0001g0022a0002c0002t0001g0029others(24): Show | 60 | 430 | 0.1395 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | ||
SMAD5_chr5_136127845_136187733 | 136147819 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(18): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0009others(108): Show | 140 | 294 | 0.4762 | 1 | c.-24 others(7): Show |
SMAD5 | ENSG00000113658.18 | transcript | ENST00000545279.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SMUG1_chr12_54175366_54193985 | 54183934 | G | A | stop_gained | HIGH | HG02280.hp2 HG02451.hp2 HG02486.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0019a0002c0002t0020 | a0002c0002t0009g0048a0002c0002t0009g0093a0002c0002t0009g0109others(5): Show | 9 | 438 | 0.0206 | 0 | c.7C> others(1): Show |
p.Gln others(2): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 3/4 | 145/2681 | 7/813 | 3/270 | chr12 | TogoVar | ||
SPATA22_chr17_3435019_3476819 | 3471678 | GCA | G | splice_donor_variant others(2): Show |
HIGH | HG00140.hp2 HG00733.hp1 HG01358.hp1 others(46): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0012others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0018others(39): Show | 49 | 420 | 0.1167 | -2 | c.-74 others(13): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88136010 | TGCAACCT others(3483): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG00423.hp2 HG01106.hp2 HG01928.hp1 others(12): Show |
a0007a0042 | a0007c0009a0007c0014a0042c0062 | a0007c0009t0003a0007c0009t0006a0007c0014t0003others(1): Show | a0007c0009t0003g0002a0007c0009t0003g0079a0007c0009t0003g0080others(5): Show | 15 | 446 | 0.0336 | -3490 | c.-10 others(14): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/4 | chr9 | 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 |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0003a0002c0002t0026a0002c0002t0027others(1): Show | a0002c0002t0003g0004a0002c0002t0003g0009a0002c0002t0003g0042others(17): Show | 24 | 251 | 0.0956 | -247 | c.-95 others(12): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/5 | 735 | chr21 | 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 | |||||
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 | |||||
SSX5_chrX_48181220_48201795 | 48194855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG02451.hp2 | a0004 | a0004c0008 | a0004c0008t0042 | a0004c0008t0042g0033 | 1 | 326 | 0.0031 | 0 | c.70- others(4): Show |
SSX5 | ENSG00000165583.16 | transcript | ENST00000347757.6 | protein_coding | 2/7 | chrX | TogoVar | ||||||
STAG2_chrX_123956706_124107656 | 124061743 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00735.hp2 HG01257.hp2 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(18): Show | 21 | 276 | 0.0761 | 2 | c.153 others(15): Show |
STAG2 | ENSG00000101972.20 | transcript | ENST00000371145.8 | protein_coding | 16/34 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SULT1C2_chr2_108283895_108314915 | 108308425 | GA | G | frameshift_variant | HIGH | HG02109.hp1 HG02257.hp2 HG02451.hp1 others(4): Show |
a0003a0010 | a0003c0003a0010c0011 | a0003c0003t0001a0010c0011t0001 | a0003c0003t0001g0011a0003c0003t0001g0165a0010c0011t0001g0076 | 7 | 342 | 0.0205 | -1 | c.853 others(4): Show |
p.Met others(5): Show |
SULT1C2 | ENSG00000198203.10 | transcript | ENST00000251481.11 | protein_coding | 8/8 | 1050/2539 | 853/891 | 285/296 | chr2 | 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 | ||
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 | ||||||
TEP1_chr14_20360667_20418501 | 20382712 | G | A | stop_gained | HIGH | HG02451.hp1 | a0097 | a0097c0149 | a0097c0149t0002 | a0097c0149t0002g0137 | 1 | 400 | 0.0025 | 0 | c.405 others(4): Show |
p.Arg others(5): Show |
TEP1 | ENSG00000129566.13 | transcript | ENST00000262715.10 | protein_coding | 28/55 | 4172/10775 | 4051/7884 | 1351/2627 | chr14 | TogoVar | ||
TIGD6_chr5_149988118_150005654 | 149996157 | TC | T | frameshift_variant | HIGH | HG00735.hp1 HG01069.hp1 HG01071.hp1 others(33): Show |
a0004a0006 | a0004c0004a0004c0006a0004c0007others(2): Show | a0004c0004t0006a0004c0004t0011a0004c0004t0020others(5): Show | a0004c0004t0006g0008a0004c0004t0006g0017a0004c0004t0006g0058others(8): Show | 36 | 436 | 0.0826 | -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 | ||
TIRAP_chr11_126278093_126299933 | 126291399 | ACCTGAGC others(1045): Show |
A | frameshift_variant others(3): Show |
HIGH | HG02451.hp1 | a0001 | a0001c0013 | a0001c0013t0018 | a0001c0013t0018g0077 | 1 | 364 | 0.0028 | -1052 | c.67+ others(10): Show |
p.Asp others(4): Show |
TIRAP | ENSG00000150455.15 | transcript | ENST00000392679.6 | protein_coding | 4/5 | 68/666 | 23/221 | INFO_REALIGN_3_PRIME | chr11 | 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 | |||||
TOGARAM2_chr2_28976298_29057230 | 29002592 | C | T | stop_gained | HIGH | HG01884.hp1 HG02451.hp1 HG06807.hp1 |
a0023 | a0023c0096a0023c0097a0023c0098 | a0023c0096t0001a0023c0097t0001a0023c0098t0001 | a0023c0096t0001g0271a0023c0097t0001g0272a0023c0098t0001g0270 | 3 | 342 | 0.0088 | 0 | c.484 others(3): Show |
p.Arg others(4): Show |
TOGARAM2 | ENSG00000189350.13 | transcript | ENST00000379558.5 | protein_coding | 5/20 | 835/3548 | 484/3060 | 162/1019 | chr2 | 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 | ||||||
TRIM73_chr7_75390629_75410605 | 75403732 | C | T | stop_gained | HIGH | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0019others(14): Show | 46 | 322 | 0.1429 | 0 | c.487 others(3): Show |
p.Arg others(4): Show |
TRIM73 | ENSG00000178809.12 | transcript | ENST00000323819.8 | protein_coding | 3/5 | 687/1350 | 487/753 | 163/250 | chr7 | TogoVar | ||
TTC24_chr1_156574723_156592719 | 156583439 | GC | G | frameshift_variant | HIGH | HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show |
a0003a0009a0010 | a0003c0004a0009c0010a0010c0011 | a0003c0004t0001a0003c0004t0006a0003c0004t0012others(2): Show | a0003c0004t0001g0006a0003c0004t0001g0017a0003c0004t0001g0024others(9): Show | 26 | 442 | 0.0588 | -1 | c.114 others(5): Show |
p.Gln others(5): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 5/11 | 1184/2958 | 1144/1749 | 382/582 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
TUBA3E_chr2_130186745_130203439 | 130194337 | ACT | A | frameshift_variant | HIGH | HG01243.hp2 HG02055.hp2 HG02451.hp2 others(4): Show |
a0006 | a0006c0007 | a0006c0007t0003 | a0006c0007t0003g0009 | 7 | 428 | 0.0164 | -2 | c.503 others(9): Show |
p.Glu others(5): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 4/5 | 583/1518 | 503/1353 | 168/450 | chr2 | 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 | ||||||
TYRP1_chr9_12688385_12715285 | 12709125 | T | G | stop_gained | HIGH | HG02451.hp2 HG03195.hp2 HG03516.hp1 |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0008 | 3 | 438 | 0.0069 | 0 | c.155 others(4): Show |
p.Tyr others(4): Show |
TYRP1 | ENSG00000107165.13 | transcript | ENST00000388918.10 | protein_coding | 8/8 | 1736/2896 | 1557/1614 | 519/537 | chr9 | TogoVar | ||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 286 | 0.4231 | 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(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 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 | ||
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 | |||||
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 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(19): Show | 63 | 461 | 0.1367 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167296214 | G | A | stop_gained | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0004 | a0004c0004a0004c0008a0004c0011others(4): Show | a0004c0004t0003a0004c0004t0006a0004c0008t0001others(6): Show | a0004c0004t0003g0005a0004c0004t0003g0010a0004c0004t0003g0028others(43): Show | 54 | 448 | 0.1205 | 0 | c.452 others(3): Show |
p.Trp others(4): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3/8 | 627/2111 | 452/1374 | 151/457 | chr6 | 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 | ||
USP17L15_chr4_9229385_9241046 | 9235977 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002a0003others(48): Show | a0001c0001a0001c0013a0001c0014others(61): Show | a0001c0001t0000a0001c0013t0000a0001c0014t0000others(61): Show | a0001c0001t0000g0000a0001c0013t0000g0000a0001c0014t0000g0000others(61): Show | 109 | 110 | 0.9909 | 0 | c.159 others(4): Show |
p.Trp others(4): Show |
USP17L15 | ENSG00000223569.8 | transcript | ENST00000456464.2 | protein_coding | 1/1 | 1593/1662 | 1593/1662 | 531/553 | chr4 | TogoVar | ||
USP17L1_chr8_7327387_7338979 | 7332253 | TTGGTGGG others(4721): Show |
T | transcript_ablation | HIGH | HG00408.hp2 HG00741.hp1 HG02451.hp2 others(13): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 16 | 416 | 0.0385 | -4728 | c.-13 others(10): Show |
p.0? | USP17L1 | ENSG00000230549.3 | transcript | ENST00000529559.1 | protein_coding | 1/1 | chr8 | 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 | ||
USP50_chr15_50495562_50551666 | 50529817 | A | AT | frameshift_variant | HIGH | HG01884.hp2 HG02451.hp1 HG02723.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0035a0002c0003t0001g0036a0002c0003t0001g0037others(5): Show | 8 | 384 | 0.0208 | 1 | c.915 others(4): Show |
p.Tyr others(5): Show |
USP50 | ENSG00000170236.16 | transcript | ENST00000532404.6 | protein_coding | 6/7 | 1056/1353 | 915/1005 | 305/334 | chr15 | 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 | ||
VWDE_chr7_12325885_12408865 | 12336140 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0011a0027 | a0002c0047a0011c0010a0027c0034 | a0002c0047t0007a0011c0010t0007a0027c0034t0010 | a0002c0047t0007g0289a0011c0010t0007g0042a0011c0010t0007g0279others(4): Show | 9 | 374 | 0.0241 | 0 | c.465 others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 27/28 | chr7 | TogoVar | ||||||
VWDE_chr7_12325885_12408865 | 12342095 | AC | A | frameshift_variant | HIGH | HG02145.hp2 HG02280.hp1 HG02451.hp1 others(6): Show |
a0002a0011a0027 | a0002c0047a0011c0010a0027c0034 | a0002c0047t0007a0011c0010t0007a0027c0034t0010 | a0002c0047t0007g0289a0011c0010t0007g0042a0011c0010t0007g0279others(4): Show | 9 | 374 | 0.0241 | -1 | c.423 others(5): Show |
p.Gln others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 23/29 | 4382/5220 | 4233/4773 | 1411/1590 | chr7 | TogoVar | ||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0008a0011others(7): Show | a0002c0002a0002c0046a0002c0047others(9): Show | a0002c0002t0004a0002c0046t0004a0002c0047t0007others(11): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(43): Show | 72 | 374 | 0.1925 | 1 | c.381 others(5): Show |
p.Lys others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/29 | 3965/5220 | 3816/4773 | 1272/1590 | chr7 | TogoVar | ||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0008a0011others(3): Show | a0002c0002a0002c0043a0002c0044others(12): Show | a0002c0002t0004a0002c0043t0005a0002c0044t0014others(12): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(44): Show | 73 | 374 | 0.1952 | 0 | c.115 others(4): Show |
p.Arg others(4): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 8/29 | 1302/5220 | 1153/4773 | 385/1590 | chr7 | 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 | ||
ZAN_chr7_100728595_100802797 | 100787939 | GGCTTCAG others(28): Show |
G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(49): Show |
a0003a0015a0018others(11): Show | a0003c0003a0003c0033a0003c0041others(17): Show | a0003c0003t0001a0003c0033t0001a0003c0041t0001others(17): Show | a0003c0003t0001g0096a0003c0003t0001g0112a0003c0003t0001g0113others(49): Show | 52 | 308 | 0.1688 | -35 | c.703 others(44): Show |
p.Phe others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 38/48 | 7228/8700 | 7032/8439 | 2344/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0021 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(86): Show | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(207): Show | 215 | 271 | 0.7934 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 4/14 | 293/3342 | 2/1116 | 1/371 | chr5 | 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 | ||
ZNF211_chr19_57628168_57649041 | 57633347 | A | G | start_lost | HIGH | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0013a0004c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002a0002c0002t0002g0016a0002c0002t0002g0021others(29): Show | 112 | 372 | 0.3011 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
ZNF211 | ENSG00000121417.14 | transcript | ENST00000240731.5 | protein_coding | 1/4 | 180/3773 | 1/1734 | 1/577 | chr19 | TogoVar |