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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D3B_chr17_36160683_36181636 | 36166119 | G | GGTGCACT others(36): Show |
frameshift_variant | HIGH | HG00609.hp2 HG01243.hp2 NA18946.hp2 others(2): Show |
a0013a0023 | a0013c0016a0013c0046a0023c0048 | a0013c0016t0009a0013c0016t0016a0013c0046t0009others(1): Show | a0013c0016t0009g0027a0013c0016t0009g0029a0013c0016t0016g0030others(2): Show | 5 | 199 | 0.0251 | 43 | c.152 others(52): Show |
p.Pro others(5): Show |
TBC1D3B | ENSG00000274808.6 | transcript | ENST00000611257.5 | protein_coding | 14/14 | 1683/2120 | 1525/1650 | 509/549 | chr17 | TogoVar | ||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | 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 | ||
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 | ||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0012a0013 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005a0002c0002t0002g0007a0002c0002t0002g0009others(58): Show | 139 | 424 | 0.3278 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | ||
TTC12_chr11_113309583_113371387 | 113352209 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00609.hp1 HG01496.hp1 HG01978.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0115a0002c0002t0001g0011a0002c0002t0001g0154 | 5 | 344 | 0.0145 | 0 | c.144 others(6): Show |
TTC12 | ENSG00000149292.17 | transcript | ENST00000529221.6 | protein_coding | 16/21 | chr11 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178654252 | A | ACTTTCTT others(4254): Show |
frameshift_variant others(1): Show |
HIGH | HG00609.hp1 HG01346.hp2 HG01978.hp1 |
a0015a0045 | a0015c0176a0015c0182a0045c0179 | a0015c0176t0001a0015c0182t0001a0045c0179t0001 | a0015c0176t0001g0045a0015c0182t0001g0036a0045c0179t0001g0051 | 3 | 242 | 0.0124 | 4261 | c.383 others(4272): Show |
p.Val others(7): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 193/363 | 38560/109224 | 38335/107976 | 12779/35991 | 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 | ||||||
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 | ||
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 | ||
USP17L17_chr4_9238879_9250471 | 9244074 | G | T | stop_gained | HIGH | HG00609.hp2 HG01516.hp1 HG01517.hp1 others(8): Show |
a0008a0026 | a0008c0016a0008c0017a0008c0084others(3): Show | a0008c0016t0000a0008c0017t0000a0008c0084t0000others(3): Show | a0008c0016t0000g0000a0008c0017t0000g0000a0008c0084t0000g0000others(3): Show | 11 | 199 | 0.0553 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L17 | ENSG00000249104.3 | transcript | ENST00000511568.1 | protein_coding | 1/1 | 196/1593 | 196/1593 | 66/530 | chr4 | TogoVar | ||
USP17L18_chr4_9243630_9255222 | 9248825 | G | T | stop_gained | HIGH | HG00408.hp2 HG00609.hp2 HG01070.hp2 others(5): Show |
a0009 | a0009c0013a0009c0029a0009c0082others(1): Show | a0009c0013t0000a0009c0029t0000a0009c0082t0000others(1): Show | a0009c0013t0000g0000a0009c0029t0000g0000a0009c0082t0000g0000others(1): Show | 8 | 210 | 0.0381 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L18 | ENSG00000250844.3 | transcript | ENST00000504209.1 | protein_coding | 1/1 | 196/1593 | 196/1593 | 66/530 | chr4 | TogoVar | ||
USP17L19_chr4_9248378_9259970 | 9253573 | G | T | stop_gained | HIGH | HG00609.hp2 HG03710.hp1 NA18612.hp1 others(3): Show |
a0010 | a0010c0017a0010c0025a0010c0074 | a0010c0017t0000a0010c0025t0000a0010c0074t0000 | a0010c0017t0000g0000a0010c0025t0000g0000a0010c0074t0000g0000 | 6 | 206 | 0.0291 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L19 | ENSG00000248920.3 | transcript | ENST00000515566.1 | protein_coding | 1/1 | 196/1593 | 196/1593 | 66/530 | 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 | ||||||
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 | 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 | |||||
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 | ||
VWA3B_chr2_98082167_98318299 | 98121411 | G | T | stop_gained | HIGH | HG00609.hp2 NA19064.hp2 |
a0012 | a0012c0035a0012c0036 | a0012c0035t0004a0012c0036t0003 | a0012c0035t0004g0064a0012c0036t0003g0063 | 2 | 240 | 0.0083 | 0 | c.655 others(3): Show |
p.Glu others(4): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 5/28 | 884/5064 | 655/3885 | 219/1294 | chr2 | 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 | 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 | ||||||
ZFHX4_chr8_76676247_76872281 | 76853083 | T | TC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(25): Show |
a0004a0007a0030others(1): Show | a0004c0012a0004c0018a0004c0019others(10): Show | a0004c0012t0002a0004c0018t0002a0004c0019t0005others(11): Show | a0004c0012t0002g0061a0004c0012t0002g0062a0004c0012t0002g0190others(25): Show | 28 | 244 | 0.1148 | 1 | c.617 others(5): Show |
p.Pro others(6): Show |
ZFHX4 | ENSG00000091656.19 | transcript | ENST00000651372.2 | protein_coding | 10/11 | 6591/13987 | 6171/10851 | 2057/3616 | INFO_REALIGN_3_PRIME | chr8 | 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 | |
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 | ||
ZNF302_chr19_34672678_34691396 | 34682775 | AG | A | frameshift_variant others(1): Show |
HIGH | HG00609.hp2 HG02129.hp2 NA18987.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0026a0001c0005t0002g0050a0001c0005t0002g0051 | 5 | 442 | 0.0113 | -1 | c.10d others(3): Show |
p.Val others(3): Show |
ZNF302 | ENSG00000089335.22 | transcript | ENST00000505242.6 | protein_coding | 3/5 | 504/2853 | 10/1200 | 4/399 | INFO_REALIGN_3_PRIME | 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 | |||||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0005 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003a0002c0002t0004g0028a0002c0002t0004g0029others(68): Show | 139 | 418 | 0.3325 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | 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 | |
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0015others(157): Show | 220 | 378 | 0.5820 | -2 | c.9_1 others(6): Show |
p.Cys others(3): Show |
ZNF480 | ENSG00000198464.14 | transcript | ENST00000595962.6 | protein_coding | 2/5 | 83/4746 | 9/1608 | 3/535 | 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 | ||||||
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 | |||||
ZNF528_chr19_52392849_52423401 | 52401662 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp2 HG00673.hp2 others(38): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0141others(15): Show | 41 | 476 | 0.0861 | 2 | c.-13 others(15): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF560_chr19_9461355_9503616 | 9498195 | AACGGCAA others(66): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0281 | 1 | 410 | 0.0024 | -73 | c.-14 others(85): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/10 | 22883 | 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 | ||||||
ZNF579_chr19_55571774_55585848 | 55578176 | C | CG | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(114): Show |
a0004a0005a0006others(8): Show | a0004c0004a0005c0008a0005c0010others(14): Show | a0004c0004t0001a0005c0008t0001a0005c0008t0006others(18): Show | a0004c0004t0001g0002a0004c0004t0001g0037a0005c0008t0001g0007others(24): Show | 117 | 416 | 0.2813 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1519/2922 | 1463/1689 | 488/562 | chr19 | TogoVar | ||
ZNF681_chr19_23734195_23763891 | 23744939 | CCA | C | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0003a0003c0003t0026others(2): Show | a0003c0003t0001g0005a0003c0003t0001g0027a0003c0003t0001g0029others(26): Show | 40 | 394 | 0.1015 | -2 | c.609 others(9): Show |
p.Cys others(5): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 752/6497 | 609/1938 | 203/645 | chr19 | 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 |