view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0001a0002a0006others(9): Show | a0001c0001a0002c0002a0002c0006others(19): Show | a0001c0001t0024a0002c0002t0001a0002c0002t0003others(28): Show | a0001c0001t0024g0046 a0002c0002t0001g0001 a0002c0002t0001g0037 others(70): Show |
159 | 484 | 0.3285 | 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 | |||
TAS2R46_chr12_11056365_11067294 | 11061546 | C | T | stop_gained | HIGH | HG00140.hp2 HG00544.hp2 HG00558.hp2 others(63): Show |
a0002a0006a0010 | a0002c0002a0006c0009a0010c0010 | a0002c0002t0001a0006c0009t0001a0010c0010t0001 | a0002c0002t0001g0000 a0006c0009t0001g0000 a0010c0010t0001g0000 |
66 | 294 | 0.2245 | 0 | c.749 others(3): Show |
p.Trp others(4): Show |
TAS2R46 | ENSG00000226761.3 | transcript | ENST00000533467.1 | protein_coding | 1/1 | 749/930 | 749/930 | 250/309 | chr12 | TogoVar | |||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBKBP1_chr17_47689161_47717052 | 47709026 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0002a0006a0012others(4): Show | a0002c0004a0002c0005a0002c0011others(10): Show | a0002c0004t0001a0002c0004t0003a0002c0005t0001others(12): Show | a0002c0004t0001g0002 a0002c0004t0001g0016 a0002c0004t0001g0052 others(36): Show |
40 | 384 | 0.1042 | 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 | ||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show |
102 | 412 | 0.2476 | 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(189): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show |
192 | 434 | 0.4424 | -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 | |||
TLR5_chr1_223104404_223148248 | 223111858 | G | A | stop_gained | HIGH | HG00738.hp2 HG01516.hp2 HG02071.hp2 others(9): Show |
a0004 | a0004c0005a0004c0016 | a0004c0005t0002a0004c0005t0003a0004c0005t0006others(3): Show | a0004c0005t0002g0110 a0004c0005t0002g0128 a0004c0005t0003g0060 others(9): Show |
12 | 366 | 0.0328 | 0 | c.117 others(4): Show |
p.Arg others(4): Show |
TLR5 | ENSG00000187554.14 | transcript | ENST00000642603.2 | protein_coding | 6/6 | 1781/4235 | 1174/2577 | 392/858 | chr1 | TogoVar | |||
TMPRSS11A_chr4_67904395_67968493 | 67963391 | C | T | start_lost | HIGH | HG00280.hp2 HG00323.hp1 HG00544.hp1 others(97): Show |
a0002a0003 | a0002c0002a0002c0010a0002c0015others(7): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0019others(13): Show | a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0010 others(78): Show |
100 | 392 | 0.2551 | 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 | |||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show |
102 | 470 | 0.2170 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | 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 | a0001c0001t0001g0108 a0001c0001t0002g0014 a0001c0001t0003g0026 others(116): Show |
130 | 404 | 0.3218 | 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 | a0001c0005t0001g0005 a0001c0005t0001g0088 a0001c0005t0001g0149 others(112): Show |
125 | 306 | 0.4085 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | |||||||
TNIP1_chr5_151024945_151086034 | 151033665 | A | AG | frameshift_variant | HIGH | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(22): Show |
a0003a0010a0016others(2): Show | a0003c0003a0003c0009a0010c0024others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0022 a0003c0003t0001g0075 a0003c0003t0001g0104 others(21): Show |
25 | 397 | 0.0630 | 1 | c.172 others(5): Show |
p.Pro others(5): Show |
TNIP1 | ENSG00000145901.16 | transcript | ENST00000521591.6 | protein_coding | 16/18 | 1912/2870 | 1721/1911 | 574/636 | chr5 | TogoVar | |||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0010a0011others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show |
53 | 370 | 0.1432 | 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 | |||
TNRC18_chr7_5301811_5428834 | 5361627 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00673.hp2 HG01258.hp2 others(22): Show |
a0004a0005a0008others(5): Show | a0004c0045a0005c0018a0005c0024others(20): Show | a0004c0045t0008a0005c0018t0003a0005c0018t0005others(21): Show | a0004c0045t0008g0050 a0005c0018t0003g0246 a0005c0018t0005g0031 others(22): Show |
25 | 304 | 0.0822 | 1 | c.462 others(5): Show |
p.Arg others(6): Show |
TNRC18 | ENSG00000182095.15 | transcript | ENST00000430969.6 | protein_coding | 14/30 | 5264/10839 | 4627/8907 | 1543/2968 | chr7 | TogoVar | |||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 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 |
a0002a0011a0012 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show |
139 | 422 | 0.3294 | 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 | |||
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 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TXNRD2_chr22_19870522_19946818 | 19878372 | A | C | stop_gained | HIGH | HG03831.hp2 | a0007 | a0007c0040 | a0007c0040t0001 | a0007c0040t0001g0316 | 1 | 370 | 0.0027 | 0 | c.134 others(4): Show |
p.Tyr others(4): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 15/18 | 1356/1941 | 1341/1575 | 447/524 | chr22 | TogoVar | |||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0005c0005others(1): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0000 a0004c0003t0001g0000 a0005c0005t0001g0000 others(1): Show |
65 | 274 | 0.2372 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
UNC93A_chr6_167286315_167321014 | 167298071 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 others(21): Show |
29 | 446 | 0.0650 | 0 | c.625 others(5): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
USP17L15_chr4_9229385_9241046 | 9235977 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(106): Show |
a0001a0002a0003others(43): Show | a0001c0001a0001c0013a0001c0014others(61): Show | a0001c0001t0001a0001c0013t0001a0001c0014t0001others(61): Show | a0001c0001t0001g0000 a0001c0013t0001g0000 a0001c0014t0001g0000 others(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 | |||
USP17L20_chr4_9253124_9264716 | 9258319 | G | T | stop_gained | HIGH | HG00140.hp1 HG01358.hp1 HG02258.hp1 others(16): Show |
a0001a0003a0019 | a0001c0001a0003c0003a0019c0025 | a0001c0001t0001a0003c0003t0001a0019c0025t0001 | a0001c0001t0001g0000 a0003c0003t0001g0000 a0019c0025t0001g0000 |
19 | 234 | 0.0812 | 0 | c.196 others(3): Show |
p.Glu others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 196/1593 | 196/1593 | 66/530 | chr4 | TogoVar | |||
USP17L26_chr4_9329658_9341250 | 9334678 | C | G | stop_gained | HIGH | HG03831.hp1 NA18957.hp1 |
a0003 | a0003c0042a0003c0043 | a0003c0042t0001a0003c0043t0001 | a0003c0042t0001g0000 a0003c0043t0001g0000 |
2 | 102 | 0.0196 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L26 | ENSG00000229579.5 | transcript | ENST00000509660.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | TogoVar | |||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 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 |
a0001a0002a0015others(2): Show | a0001c0002a0001c0023a0002c0001others(3): Show | a0001c0002t0001a0001c0023t0001a0002c0001t0007others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0021 a0001c0002t0001g0046 others(6): Show |
26 | 114 | 0.2281 | 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 |
a0001 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show |
239 | 356 | 0.6713 | 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 | |||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0009a0012others(3): Show | a0002c0002a0002c0039a0002c0040others(12): Show | a0002c0002t0002a0002c0039t0002a0002c0040t0002others(12): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show |
73 | 372 | 0.1962 | 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 | |||
YIF1B_chr19_38298558_38320947 | 38305458 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG01099.hp1 HG03831.hp1 others(6): Show |
a0003a0004 | a0003c0007a0003c0009a0004c0010 | a0003c0007t0003a0003c0007t0004a0003c0009t0001others(1): Show | a0003c0007t0003g0114 a0003c0007t0003g0153 a0003c0007t0003g0163 others(5): Show |
9 | 400 | 0.0225 | 1 | c.838 others(4): Show |
p.Val others(5): Show |
YIF1B | ENSG00000167645.17 | transcript | ENST00000339413.11 | protein_coding | 8/8 | 868/2769 | 838/945 | 280/314 | chr19 | TogoVar | |||
ZC2HC1A_chr8_78661089_78724765 | 78686431 | G | GTTTA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 others(36): Show |
56 | 86 | 0.6512 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(77): Show | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 others(207): Show |
215 | 270 | 0.7963 | 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 | |||
ZFPM1_chr16_88448280_88542031 | 88533292 | CTCTGG | C | frameshift_variant | HIGH | HG00741.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
a0019a0021a0028others(3): Show | a0019c0074a0019c0081a0021c0056others(4): Show | a0019c0074t0060a0019c0081t0001a0021c0056t0006others(4): Show | a0019c0074t0060g0237 a0019c0081t0001g0131 a0021c0056t0006g0130 others(4): Show |
7 | 316 | 0.0222 | -5 | c.133 others(14): Show |
p.Leu others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 1694/5432 | 1335/3021 | 445/1006 | chr16 | TogoVar | |||
ZFPM1_chr16_88448280_88542031 | 88534223 | G | GC | frameshift_variant | HIGH | HG00438.hp2 HG00558.hp1 HG00639.hp2 others(17): Show |
a0006a0008a0012others(7): Show | a0006c0015a0006c0035a0008c0041others(10): Show | a0006c0015t0004a0006c0015t0005a0006c0015t0019others(17): Show | a0006c0015t0004g0168 a0006c0015t0005g0030 a0006c0015t0019g0043 others(17): Show |
20 | 316 | 0.0633 | 1 | c.227 others(5): Show |
p.Pro others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 2633/5432 | 2274/3021 | 758/1006 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0008a0018 | a0003c0003a0003c0004a0003c0020others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003 a0003c0003t0001g0080 a0003c0003t0003g0035 others(34): Show |
64 | 406 | 0.1576 | 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(375): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(134): Show |
378 | 442 | 0.8552 | 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 |
a0002 | a0002c0002a0002c0006a0002c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0021 others(29): Show |
112 | 370 | 0.3027 | 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 | |||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0007 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003 a0002c0002t0004g0026 a0002c0002t0004g0027 others(59): Show |
139 | 416 | 0.3341 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF469_chr16_88377959_88445753 | 88429937 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00597.hp2 HG01884.hp2 others(13): Show |
a0004a0030a0041others(3): Show | a0004c0030a0004c0099a0004c0100others(12): Show | a0004c0030t0002a0004c0099t0001a0004c0100t0002others(12): Show | a0004c0030t0002g0158 a0004c0030t0002g0298 a0004c0099t0001g0302 others(13): Show |
16 | 352 | 0.0455 | 1 | c.247 others(5): Show |
p.Phe others(5): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 3/3 | 2960/13770 | 2473/11862 | 825/3953 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(216): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 others(153): Show |
219 | 376 | 0.5824 | -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 | ||
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(90): Show |
227 | 413 | 0.5496 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | 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 | a0004c0004t0001g0002 a0004c0004t0001g0037 a0005c0008t0001g0007 others(24): Show |
117 | 411 | 0.2847 | 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 | |||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0009a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(253): Show |
293 | 376 | 0.7793 | -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 | |||
ZNF628_chr19_55471617_55489487 | 55482009 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00642.hp1 others(29): Show |
a0004a0007a0016others(2): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001 a0004c0015t0001g0007 a0004c0015t0001g0017 others(28): Show |
32 | 419 | 0.0764 | 1 | c.821 others(4): Show |
p.Pro others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1090/3562 | 822/3180 | 274/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF628_chr19_55471617_55489487 | 55482519 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG01516.hp2 others(18): Show |
a0004a0005a0007others(7): Show | a0004c0058a0004c0059a0004c0082others(14): Show | a0004c0058t0001a0004c0059t0001a0004c0082t0001others(14): Show | a0004c0058t0001g0029 a0004c0059t0001g0001 a0004c0082t0001g0131 others(16): Show |
21 | 420 | 0.0500 | 1 | c.133 others(5): Show |
p.Ser others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1600/3562 | 1332/3180 | 444/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0011 others(35): Show |
57 | 222 | 0.2568 | 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(158): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
161 | 328 | 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 | ||||||
ZNF775_chr7_150374330_150403630 | 150397214 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp1 HG00673.hp2 others(8): Show |
a0003 | a0003c0004a0003c0007a0003c0013others(1): Show | a0003c0004t0001a0003c0007t0001a0003c0013t0002others(1): Show | a0003c0004t0001g0002 a0003c0004t0001g0003 a0003c0004t0001g0024 others(6): Show |
11 | 396 | 0.0278 | 1 | c.738 others(4): Show |
p.Arg others(5): Show |
ZNF775 | ENSG00000196456.13 | transcript | ENST00000329630.10 | protein_coding | 3/3 | 851/2261 | 739/1614 | 247/537 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZNF80_chr3_114229631_114242578 | 114236340 | A | C | stop_gained | HIGH | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show |
a0003a0010 | a0003c0003a0010c0009 | a0003c0003t0003a0003c0003t0007a0003c0003t0014others(4): Show | a0003c0003t0003g0000 a0003c0003t0007g0000 a0003c0003t0014g0000 others(4): Show |
67 | 424 | 0.1580 | 0 | c.735 others(3): Show |
p.Tyr others(4): Show |
ZNF80 | ENSG00000174255.8 | transcript | ENST00000482457.4 | protein_coding | 1/1 | 1239/2948 | 735/822 | 245/273 | chr3 | TogoVar | |||
ZNF844_chr19_12059731_12086565 | 12076155 | ATTATC | A | frameshift_variant | HIGH | HG01069.hp1 HG01071.hp1 HG01934.hp1 others(2): Show |
a0008 | a0008c0008 | a0008c0008t0001a0008c0008t0026a0008c0008t0045 | a0008c0008t0001g0001 a0008c0008t0001g0002 a0008c0008t0026g0001 others(2): Show |
5 | 360 | 0.0139 | -5 | c.104 others(14): Show |
p.Tyr others(5): Show |
ZNF844 | ENSG00000223547.10 | transcript | ENST00000439326.8 | protein_coding | 4/4 | 1187/6588 | 1044/2001 | 348/666 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF865_chr19_55600647_55622269 | 55614540 | G | GC | frameshift_variant | HIGH | HG00544.hp2 HG00738.hp2 HG01123.hp1 others(16): Show |
a0002a0010 | a0002c0005a0002c0009a0002c0011others(2): Show | a0002c0005t0001a0002c0009t0001a0002c0009t0002others(4): Show | a0002c0005t0001g0001 a0002c0005t0001g0016 a0002c0005t0001g0017 others(10): Show |
19 | 428 | 0.0444 | 1 | c.927 others(4): Show |
p.Ser others(5): Show |
ZNF865 | ENSG00000261221.5 | transcript | ENST00000568956.2 | protein_coding | 2/2 | 1040/3763 | 928/3180 | 310/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF880_chr19_52364923_52390795 | 52383892 | TA | T | frameshift_variant | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
a0002a0005 | a0002c0002a0002c0012a0002c0013others(6): Show | a0002c0002t0002a0002c0012t0002a0002c0013t0002others(6): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(77): Show |
149 | 456 | 0.3268 | -1 | c.317 others(4): Show |
p.Asn others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 360/2258 | 317/1734 | 106/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |