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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||
USP17L20_chr4_9253124_9264716 | 9259531 | A | T | stop_gained | HIGH | HG03453.hp2 NA19079.hp2 |
a0022 | a0022c0026 | a0022c0026t0000 | a0022c0026t0000g0000 | 2 | 234 | 0.0086 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | TogoVar | ||
USP17L2_chr8_12131435_12143849 | 12135283 | ATAGCATA others(4731): Show |
A | transcript_ablation | HIGH | HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 16 | 195 | 0.0821 | -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(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 | ||
UTS2B_chr3_191262168_191335526 | 191275255 | G | A | stop_gained | HIGH | HG01891.hp2 HG03453.hp1 NA20300.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0148a0003c0003t0003g0149a0003c0003t0003g0151 | 3 | 402 | 0.0075 | 0 | c.331 others(3): Show |
p.Arg others(4): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 8/9 | 1108/2385 | 331/360 | 111/119 | chr3 | 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 | ||||||
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 | ||
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 | |||||
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 | ||
ZAN_chr7_100728595_100802797 | 100729949 | GGCTCACT others(13137): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0002a0016a0017others(9): Show | a0002c0002a0016c0022a0017c0105others(12): Show | a0002c0002t0002a0016c0022t0002a0017c0105t0002others(12): Show | a0002c0002t0002g0001a0002c0002t0002g0006a0002c0002t0002g0007others(47): Show | 51 | 308 | 0.1656 | -13144 | c.-38 others(14): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 1/48 | 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 | 100779751 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(77): Show |
a0002a0004a0009others(13): Show | a0002c0002a0004c0004a0004c0051others(15): Show | a0002c0002t0002a0004c0004t0001a0004c0051t0001others(15): Show | a0002c0002t0002g0001a0002c0002t0002g0006a0002c0002t0002g0007others(76): Show | 80 | 308 | 0.2597 | 0 | c.662 others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | 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 | ||
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 | ||
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 | ||
ZNF383_chr19_37213214_37253740 | 37224802 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00673.hp2 HG01081.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(12): Show | a0001c0001t0002g0020a0001c0001t0002g0246a0001c0001t0002g0254others(38): Show | 45 | 404 | 0.1114 | 1 | c.-16 others(7): Show |
ZNF383 | ENSG00000188283.12 | transcript | ENST00000684119.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF418_chr19_57916882_57940402 | 57926191 | G | A | stop_gained | HIGH | HG02723.hp1 HG03453.hp2 HG03579.hp2 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0018 | 3 | 428 | 0.0070 | 0 | c.199 others(4): Show |
p.Arg others(4): Show |
ZNF418 | ENSG00000196724.13 | transcript | ENST00000396147.6 | protein_coding | 4/6 | 2312/3726 | 1990/2031 | 664/676 | chr19 | TogoVar | ||
ZNF442_chr19_12340944_12370683 | 12352059 | C | A | stop_gained | HIGH | HG02630.hp2 HG02922.hp2 HG03453.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0012 | a0005c0007t0012g0011 | 4 | 300 | 0.0133 | 0 | c.217 others(3): Show |
p.Glu others(3): Show |
ZNF442 | ENSG00000198342.10 | transcript | ENST00000242804.9 | protein_coding | 5/6 | 850/6274 | 217/1884 | 73/627 | chr19 | TogoVar | ||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000 | a0000c0002a0000c0005a0000c0008others(4): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0006others(7): Show | a0000c0002t0002g0002a0000c0002t0002g0017a0000c0002t0002g0025others(33): Show | 109 | 410 | 0.2659 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | chr19 | TogoVar | ||
ZNF474_chr5_122124546_122158569 | 122152940 | AT | A | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0003a0004a0007others(2): Show | a0003c0003a0003c0014a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0007others(76): Show | 85 | 386 | 0.2202 | -1 | c.953 others(4): Show |
p.Leu others(5): Show |
ZNF474 | ENSG00000164185.7 | transcript | ENST00000296600.5 | protein_coding | 2/2 | 1303/1929 | 953/1095 | 318/364 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
ZNF492_chr19_22629324_22672671 | 22634474 | GGT | G | splice_donor_variant others(2): Show |
HIGH | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(36): Show |
a0004a0006a0007others(2): Show | a0004c0004a0006c0006a0007c0007others(2): Show | a0004c0004t0006a0004c0004t0007a0004c0004t0008others(9): Show | a0004c0004t0006g0046a0004c0004t0006g0049a0004c0004t0006g0050others(36): Show | 39 | 366 | 0.1066 | -2 | c.-94 others(13): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF492_chr19_22629324_22672671 | 22634476 | T | G | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00597.hp2 others(65): Show |
a0002a0005a0008others(1): Show | a0002c0002a0002c0013a0005c0005others(2): Show | a0002c0002t0003a0002c0002t0017a0002c0002t0037others(8): Show | a0002c0002t0003g0003a0002c0002t0003g0007a0002c0002t0003g0008others(52): Show | 68 | 366 | 0.1858 | 0 | c.-94 others(5): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
ZNF492_chr19_22629324_22672671 | 22663799 | G | T | splice_acceptor_variant others(1): Show |
HIGH | HG00597.hp2 HG00609.hp2 HG01069.hp2 others(22): Show |
a0005a0008a0011 | a0005c0005a0008c0008a0011c0011 | a0005c0005t0004a0005c0005t0014a0005c0005t0018others(3): Show | a0005c0005t0004g0017a0005c0005t0004g0020a0005c0005t0004g0111others(19): Show | 25 | 366 | 0.0683 | 0 | c.131 others(5): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | TogoVar | ||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0013others(38): Show | 58 | 276 | 0.2101 | 2 | c.105 others(15): Show |
ZNF711 | ENSG00000147180.17 | transcript | ENST00000674551.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(159): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 162 | 330 | 0.4909 | -6142 | c.3+2 others(15): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF746_chr7_149467794_149502809 | 149474858 | A | AC | frameshift_variant | HIGH | HG00642.hp1 HG01099.hp1 HG01175.hp2 others(13): Show |
a0002a0009 | a0002c0006a0002c0008a0002c0011others(3): Show | a0002c0006t0001a0002c0006t0002a0002c0008t0001others(4): Show | a0002c0006t0001g0108a0002c0006t0001g0110a0002c0006t0001g0199others(13): Show | 16 | 424 | 0.0377 | 1 | c.150 others(5): Show |
p.Gly others(5): Show |
ZNF746 | ENSG00000181220.18 | transcript | ENST00000458143.7 | protein_coding | 7/7 | 1781/3846 | 1508/1983 | 503/660 | chr7 | TogoVar | ||
ZNF790_chr19_36812428_36843387 | 36819449 | G | A | stop_gained | HIGH | HG01891.hp1 HG02451.hp2 HG02622.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0220a0003c0004t0004g0221a0003c0004t0004g0222others(3): Show | 6 | 360 | 0.0167 | 0 | c.895 others(3): Show |
p.Arg others(4): Show |
ZNF790 | ENSG00000197863.9 | transcript | ENST00000356725.9 | protein_coding | 5/5 | 1019/3040 | 895/1911 | 299/636 | chr19 | TogoVar | ||
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(460): Show |
frameshift_variant others(1): Show |
HIGH | HG00738.hp1 HG02258.hp2 HG02572.hp1 others(6): Show |
a0002a0007a0008 | a0002c0027a0007c0008a0008c0009 | a0002c0027t0007a0007c0008t0001a0008c0009t0001 | a0002c0027t0007g0196a0007c0008t0001g0062a0007c0008t0001g0063others(3): Show | 9 | 458 | 0.0197 | 467 | c.123 others(476): Show |
p.Cys others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 1281/2258 | 1238/1734 | 413/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNG1C_chr9_68236983_68305035 | 68256920 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(284): Show | 295 | 322 | 0.9162 | 0 | c.431 others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 4/14 | chr9 | TogoVar | ||||||
ZNG1C_chr9_68236983_68305035 | 68285995 | G | GA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(215): Show | 223 | 322 | 0.6926 | 1 | c.777 others(4): Show |
p.Leu others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 11/15 | 827/1685 | 778/1188 | 260/395 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |