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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBN1_chr16_4842481_4887401 | 4858607 | ATCGATAT others(37): Show |
A | frameshift_variant | HIGH | NA19063.hp2 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0253 | 1 | 376 | 0.0027 | -44 | c.377 others(51): Show |
p.Ile others(5): Show |
UBN1 | ENSG00000118900.15 | transcript | ENST00000262376.11 | protein_coding | 4/18 | 1146/6443 | 377/3405 | 126/1134 | chr16 | TogoVar | ||
UBN1_chr16_4842481_4887401 | 4858988 | C | CAGAACTT others(38): Show |
stop_gained others(1): Show |
HIGH | NA19063.hp2 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0253 | 1 | 376 | 0.0027 | 45 | c.433 others(55): Show |
p.Glu others(58): Show |
UBN1 | ENSG00000118900.15 | transcript | ENST00000262376.11 | protein_coding | 5/18 | 1211/6443 | 442/3405 | 148/1134 | INFO_REALIGN_3_PRIME | chr16 | 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 | ||
UNCX_chr7_1227872_1242326 | 1236226 | A | AC | frameshift_variant | HIGH | HG01243.hp2 HG01361.hp2 HG02896.hp1 others(9): Show |
a0000 | a0000c0002a0000c0007 | a0000c0002t0001a0000c0002t0002a0000c0007t0001 | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0004others(6): Show | 12 | 406 | 0.0296 | 1 | c.849 others(4): Show |
p.Ala others(5): Show |
UNCX | ENSG00000164853.9 | transcript | ENST00000316333.9 | protein_coding | 3/3 | 996/2091 | 850/1596 | 284/531 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
USP17L21_chr4_9257872_9269464 | 9262892 | C | G | stop_gained | HIGH | NA19063.hp2 | a0027 | a0027c0094 | a0027c0094t0000 | a0027c0094t0000g0000 | 1 | 174 | 0.0058 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L21 | ENSG00000249811.3 | transcript | ENST00000506414.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | TogoVar | ||
USP17L21_chr4_9257872_9269464 | 9264279 | A | T | stop_gained | HIGH | HG01257.hp2 NA18945.hp2 NA18957.hp2 others(2): Show |
a0020a0027a0052others(1): Show | a0020c0021a0027c0094a0052c0060others(1): Show | a0020c0021t0000a0027c0094t0000a0052c0060t0000others(1): Show | a0020c0021t0000g0000a0027c0094t0000g0000a0052c0060t0000g0000others(1): Show | 5 | 174 | 0.0287 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L21 | ENSG00000249811.3 | transcript | ENST00000506414.1 | 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 | ||
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 | ||||||
VCY1B_chrY_14051227_14061958 | 14056688 | CG | C | frameshift_variant | HIGH | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004 | 1 | 129 | 0.0078 | -1 | c.210 others(4): Show |
p.Pro others(4): Show |
VCY1B | ENSG00000129862.7 | transcript | ENST00000250823.5 | protein_coding | 2/2 | 273/540 | 210/378 | 70/125 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
VCY1B_chrY_14051227_14061958 | 14056756 | AG | A | frameshift_variant | HIGH | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0004 | 1 | 129 | 0.0078 | -1 | c.277 others(4): Show |
p.Glu others(4): Show |
VCY1B | ENSG00000129862.7 | transcript | ENST00000250823.5 | protein_coding | 2/2 | 340/540 | 277/378 | 93/125 | INFO_REALIGN_3_PRIME | chrY | 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 | 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 | ||
WDR45_chrX_49069442_49084887 | 49076503 | G | GT | frameshift_variant | HIGH | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0020 | 1 | 268 | 0.0037 | 1 | c.362 others(4): Show |
p.Asn others(5): Show |
WDR45 | ENSG00000196998.19 | transcript | ENST00000376372.9 | protein_coding | 6/11 | 516/1598 | 362/1083 | 121/360 | chrX | TogoVar | ||
ZDHHC7_chr16_84969175_85016535 | 84981995 | C | T | splice_acceptor_variant others(1): Show |
HIGH | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0060 | 1 | 390 | 0.0026 | 0 | c.316 others(5): Show |
ZDHHC7 | ENSG00000153786.13 | transcript | ENST00000313732.9 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
ZDHHC9_chrX_129798288_129848886 | 129841804 | T | TC | frameshift_variant | HIGH | NA19063.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0125 | 1 | 258 | 0.0039 | 1 | c.141 others(4): Show |
p.Thr others(4): Show |
ZDHHC9 | ENSG00000188706.13 | transcript | ENST00000357166.11 | protein_coding | 3/11 | 535/4571 | 141/1095 | 47/364 | chrX | TogoVar | ||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0016a0002c0017others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(8): Show | a0002c0002t0003g0002a0002c0002t0003g0007a0002c0002t0003g0011others(23): Show | 118 | 382 | 0.3089 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | 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 | ||
ZNF226_chr19_44160100_44182685 | 44177572 | T | TA | frameshift_variant | HIGH | NA18978.hp2 NA18979.hp2 NA18981.hp1 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0003a0003c0004t0001g0008a0003c0004t0001g0013others(2): Show | 8 | 398 | 0.0201 | 1 | c.231 others(5): Show |
p.Thr others(5): Show |
ZNF226 | ENSG00000167380.17 | transcript | ENST00000337433.10 | protein_coding | 6/6 | 2452/2563 | 2312/2412 | 771/803 | INFO_REALIGN_3_PRIME | 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 | ||
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 | ||
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 228 | 476 | 0.4790 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF567_chr19_36682612_36726336 | 36689395 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(101): Show | 158 | 386 | 0.4093 | 0 | c.-16 others(6): Show |
ZNF567 | ENSG00000189042.14 | transcript | ENST00000682579.1 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
ZNF662_chr3_42901142_42924334 | 42908008 | ACATGTTG others(10): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0115 | 1 | 382 | 0.0026 | -17 | c.-93 others(27): Show |
ZNF662 | ENSG00000182983.15 | transcript | ENST00000440367.7 | protein_coding | 2/5 | 88 | INFO_REALIGN_3_PRIME | chr3 | 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 | |||||
ZNF724_chr19_23216599_23255394 | 23222449 | AAAGCTTT others(45): Show |
A | frameshift_variant | HIGH | NA19063.hp2 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0205 | 1 | 326 | 0.0031 | -52 | c.174 others(61): Show |
p.Val others(5): Show |
ZNF724 | ENSG00000196081.10 | transcript | ENST00000418100.6 | protein_coding | 4/4 | 1947/2798 | 1744/1860 | 582/619 | 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 |