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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
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 | |
TCHH_chr1_152101317_152120444 | 152111977 | TCAGCTGC others(42): Show |
T | frameshift_variant | HIGH | HG00642.hp2 HG01167.hp2 HG01169.hp1 others(12): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0003 | 15 | 402 | 0.0373 | -49 | c.119 others(58): Show |
p.Glu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1324/6985 | 1191/5832 | 397/1943 | chr1 | TogoVar | ||
TCHH_chr1_152101317_152120444 | 152112032 | CAG | C | frameshift_variant | HIGH | HG00438.hp1 HG00642.hp2 HG01167.hp2 others(16): Show |
a0003a0027 | a0003c0003a0027c0024 | a0003c0003t0001a0027c0024t0004 | a0003c0003t0001g0003a0027c0024t0004g0021 | 19 | 402 | 0.0473 | -2 | c.118 others(11): Show |
p.Leu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1269/6985 | 1183/5832 | 395/1943 | chr1 | TogoVar | ||
TECR_chr19_14524594_14570980 | 14563670 | A | AC | frameshift_variant | HIGH | HG00673.hp2 HG01517.hp2 HG01934.hp2 others(6): Show |
a0002 | a0002c0004a0002c0006 | a0002c0004t0001a0002c0006t0001 | a0002c0004t0001g0076a0002c0004t0001g0081a0002c0004t0001g0129others(6): Show | 9 | 332 | 0.0271 | 1 | c.135 others(4): Show |
p.Ala others(4): Show |
TECR | ENSG00000099797.15 | transcript | ENST00000215567.10 | protein_coding | 4/13 | 239/1139 | 136/927 | 46/308 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
TGFBR3L_chr19_7909830_7924097 | 7918131 | T | C | splice_donor_variant others(1): Show |
HIGH | HG01934.hp2 HG02976.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 3 | 446 | 0.0067 | 0 | c.*5+ others(4): Show |
TGFBR3L | ENSG00000260001.7 | transcript | ENST00000565886.2 | protein_coding | 5/5 | 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 | ||
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 | ||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(173): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(24): Show | 176 | 270 | 0.6519 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | ||||||
TMEM232_chr5_110414496_110731671 | 110420735 | G | A | stop_gained | HIGH | HG00099.hp2 HG01106.hp2 HG01261.hp1 others(18): Show |
a0002a0014a0017 | a0002c0003a0002c0009a0002c0023others(2): Show | a0002c0003t0002a0002c0003t0009a0002c0009t0002others(4): Show | a0002c0003t0002g0014a0002c0003t0002g0015a0002c0003t0002g0017others(18): Show | 21 | 250 | 0.0840 | 0 | c.181 others(4): Show |
p.Arg others(4): Show |
TMEM232 | ENSG00000186952.15 | transcript | ENST00000455884.7 | protein_coding | 14/14 | 1876/3115 | 1819/1974 | 607/657 | chr5 | TogoVar | ||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0015a0002c0018others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0005others(79): Show | 100 | 394 | 0.2538 | 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 | ||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | 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 | |||||
TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0048others(15): Show | 56 | 452 | 0.1239 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | 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 | ||
TPSB2_chr16_1223336_1235184 | 1229237 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(21): Show |
a0004 | a0004c0004a0004c0014 | a0004c0004t0002a0004c0004t0008a0004c0014t0002 | a0004c0004t0002g0004a0004c0004t0002g0012a0004c0004t0008g0034others(1): Show | 24 | 344 | 0.0698 | 1 | c.452 others(4): Show |
p.Met others(5): Show |
TPSB2 | ENSG00000197253.14 | transcript | ENST00000606293.5 | protein_coding | 4/6 | 475/1165 | 452/828 | 151/275 | 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 | ||||||
TSPAN10_chr17_81632196_81653749 | 81647906 | T | TTAAC | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(30): Show |
a0004a0007 | a0004c0005a0004c0011a0004c0012others(1): Show | a0004c0005t0003a0004c0011t0003a0004c0012t0003others(1): Show | a0004c0005t0003g0002a0004c0005t0003g0140a0004c0005t0003g0141others(6): Show | 33 | 410 | 0.0805 | 4 | c.682 others(11): Show |
p.Cys others(5): Show |
TSPAN10 | ENSG00000182612.11 | transcript | ENST00000611590.2 | protein_coding | 4/4 | 1003/1840 | 686/1068 | 229/355 | INFO_REALIGN_3_PRIME | chr17 | 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 | ||||||
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 | ||
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 | ||||||
ULBP3_chr6_150056053_150074121 | 150069013 | G | C | stop_gained | HIGH | HG00099.hp1 HG01934.hp2 HG01943.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0030a0003c0003t0057 | a0003c0003t0006g0013a0003c0003t0006g0038a0003c0003t0006g0117others(3): Show | 13 | 458 | 0.0284 | 0 | c.54C others(2): Show |
p.Tyr others(3): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 1/5 | 109/3111 | 54/735 | 18/244 | chr6 | 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(80): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00438.hp2 HG00733.hp1 HG01934.hp1 others(9): Show |
a0002 | a0002c0002a0002c0030 | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(3): Show | a0002c0002t0001g0189a0002c0002t0001g0191a0002c0002t0001g0239others(9): Show | 12 | 322 | 0.0373 | -87 | c.735 others(97): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | ||
UPK3BL2_chr7_102532919_102548696 | 102536844 | CCTGTAAT others(5888): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG01255.hp1 HG01258.hp2 others(4): Show |
a0000 | a0000c0005 | a0000c0005t0007 | a0000c0005t0007g0003 | 7 | 182 | 0.0385 | -5895 | c.112 others(13): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 6/6 | chr7 | TogoVar | ||||||
USP17L17_chr4_9238879_9250471 | 9243899 | C | G | stop_gained | HIGH | HG01074.hp1 HG01517.hp2 HG01934.hp1 others(5): Show |
a0009 | a0009c0011a0009c0018a0009c0088 | a0009c0011t0000a0009c0018t0000a0009c0088t0000 | a0009c0011t0000g0000a0009c0018t0000g0000a0009c0088t0000g0000 | 8 | 199 | 0.0402 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L17 | ENSG00000249104.3 | transcript | ENST00000511568.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | TogoVar | ||
USP17L19_chr4_9248378_9259970 | 9254785 | A | T | stop_gained | HIGH | HG00140.hp2 HG01934.hp1 HG01952.hp2 others(5): Show |
a0012a0020 | a0012c0010a0012c0069a0020c0023 | a0012c0010t0000a0012c0069t0000a0020c0023t0000 | a0012c0010t0000g0000a0012c0069t0000g0000a0020c0023t0000g0000 | 8 | 206 | 0.0388 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L19 | ENSG00000248920.3 | transcript | ENST00000515566.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | 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 | ||
USP51_chrX_55479616_55494848 | 55488268 | TG | T | frameshift_variant | HIGH | HG01934.hp1 | a0003 | a0003c0014 | a0003c0014t0030 | a0003c0014t0030g0015 | 1 | 296 | 0.0034 | -1 | c.671 others(4): Show |
p.Pro others(5): Show |
USP51 | ENSG00000247746.5 | transcript | ENST00000500968.4 | protein_coding | 3/3 | 990/4643 | 671/2136 | 224/711 | chrX | TogoVar | ||
USP51_chrX_55479616_55494848 | 55488507 | TG | T | frameshift_variant | HIGH | HG01934.hp1 | a0003 | a0003c0014 | a0003c0014t0030 | a0003c0014t0030g0015 | 1 | 296 | 0.0034 | -1 | c.432 others(4): Show |
p.Arg others(5): Show |
USP51 | ENSG00000247746.5 | transcript | ENST00000500968.4 | protein_coding | 3/3 | 751/4643 | 432/2136 | 144/711 | chrX | TogoVar | ||
USP51_chrX_55479616_55494848 | 55488760 | T | TG | frameshift_variant | HIGH | HG01934.hp1 | a0003 | a0003c0014 | a0003c0014t0030 | a0003c0014t0030g0015 | 1 | 296 | 0.0034 | 1 | c.179 others(4): Show |
p.Leu others(4): Show |
USP51 | ENSG00000247746.5 | transcript | ENST00000500968.4 | protein_coding | 3/3 | 498/4643 | 179/2136 | 60/711 | chrX | TogoVar | ||
USP51_chrX_55479616_55494848 | 55488882 | CG | C | frameshift_variant | HIGH | HG01934.hp1 | a0003 | a0003c0014 | a0003c0014t0030 | a0003c0014t0030g0015 | 1 | 296 | 0.0034 | -1 | c.57d others(3): Show |
p.Gly others(4): Show |
USP51 | ENSG00000247746.5 | transcript | ENST00000500968.4 | protein_coding | 3/3 | 376/4643 | 57/2136 | 19/711 | chrX | TogoVar | ||
VCX2_chrX_8164944_8176267 | 8170157 | T | TC | frameshift_variant | HIGH | HG01934.hp1 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0057 | 1 | 115 | 0.0087 | 1 | c.294 others(4): Show |
p.Thr others(4): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 3/3 | 601/815 | 294/420 | 98/139 | chrX | TogoVar | ||
VCX2_chrX_8164944_8176267 | 8170249 | T | TC | frameshift_variant | HIGH | HG01934.hp1 | a0014 | a0014c0029 | a0014c0029t0001 | a0014c0029t0001g0057 | 1 | 115 | 0.0087 | 1 | c.202 others(4): Show |
p.Glu others(4): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 3/3 | 509/815 | 202/420 | 68/139 | chrX | TogoVar | ||
VCX2_chrX_8164944_8176267 | 8171106 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(23): Show |
a0001a0002a0013others(4): Show | a0001c0002a0001c0028a0002c0001others(5): Show | a0001c0002t0001a0001c0028t0001a0002c0001t0007others(5): Show | a0001c0002t0001g0001a0001c0002t0001g0050a0001c0002t0001g0052others(8): Show | 26 | 115 | 0.2261 | 0 | c.-14 others(6): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | 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 | ||
VPS13B_chr8_99008274_99882580 | 99832341 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00597.hp1 HG00741.hp1 others(6): Show |
a0001 | a0001c0001a0001c0020a0001c0021 | a0001c0001t0001a0001c0001t0002a0001c0020t0002others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0064a0001c0001t0001g0108others(6): Show | 9 | 134 | 0.0672 | 1 | c.933 others(7): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTT | splice_acceptor_variant others(1): Show |
HIGH | HG00597.hp2 HG00609.hp1 HG00642.hp2 others(14): Show |
a0001a0006 | a0001c0002a0001c0016a0006c0012 | a0001c0002t0001a0001c0002t0002a0001c0016t0004others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0004others(14): Show | 17 | 134 | 0.1269 | 4 | c.933 others(17): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VSIG10L2_chr11_125941044_125961319 | 125948513 | G | A | stop_gained | HIGH | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(53): Show |
a0004a0012 | a0004c0004a0004c0008a0004c0023others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0023t0001others(2): Show | a0004c0004t0001g0004a0004c0004t0001g0009a0004c0004t0001g0048others(10): Show | 56 | 446 | 0.1256 | 0 | c.642 others(3): Show |
p.Trp others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 3/12 | 654/2799 | 642/2382 | 214/793 | chr11 | 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 | ||
VWA7_chr6_31760590_31782328 | 31765674 | C | CAGCCCTG others(31): Show |
frameshift_variant others(1): Show |
HIGH | HG01934.hp1 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0073 | 1 | 423 | 0.0024 | 38 | c.255 others(47): Show |
p.Gly others(5): Show |
VWA7 | ENSG00000204396.11 | transcript | ENST00000375688.5 | protein_coding | 17/17 | 2830/2915 | 2595/2676 | 865/891 | chr6 | TogoVar | ||
ZAN_chr7_100728595_100802797 | 100773735 | G | A | stop_gained | HIGH | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0026a0029others(4): Show | a0001c0001a0001c0006a0001c0009others(14): Show | a0001c0001t0001a0001c0006t0001a0001c0009t0001others(14): Show | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0106others(73): Show | 76 | 308 | 0.2468 | 0 | c.564 others(4): Show |
p.Trp others(5): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 31/48 | 5845/8700 | 5649/8439 | 1883/2812 | 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 | |
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 | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | chr19 | TogoVar | ||
ZNF316_chr7_6632318_6663279 | 6653564 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG01192.hp1 HG01934.hp2 others(5): Show |
a0009a0013a0017others(1): Show | a0009c0014a0009c0019a0013c0018others(2): Show | a0009c0014t0002a0009c0014t0074a0009c0019t0002others(4): Show | a0009c0014t0002g0016a0009c0014t0074g0172a0009c0019t0002g0030others(5): Show | 8 | 422 | 0.0190 | 1 | c.197 others(5): Show |
p.Ala others(5): Show |
ZNF316 | ENSG00000205903.7 | transcript | ENST00000382252.6 | protein_coding | 9/9 | 2533/7243 | 1973/3015 | 658/1004 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |