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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 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(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 others(18): Show |
63 | 460 | 0.1370 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGC | start_lost others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0018others(7): Show | a0001c0001t0003g0107 a0001c0001t0003g0126 a0001c0001t0003g0172 others(27): Show |
30 | 69 | 0.4348 | 3 | c.-3_ others(8): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
UNC13C_chr15_53973441_54633605 | 54338354 | T | TTGTC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00738.hp1 HG01192.hp2 others(42): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0044 a0001c0001t0002g0102 a0001c0001t0007g0016 others(42): Show |
45 | 156 | 0.2885 | 4 | c.458 others(17): Show |
UNC13C | ENSG00000137766.18 | transcript | ENST00000260323.16 | protein_coding | 16/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
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 | a0002c0002a0002c0006a0002c0009others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 others(38): Show |
41 | 299 | 0.1371 | -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 | |||
USP14_chr18_153557_219629 | 158673 | G | GCCGCCGC others(13): Show |
frameshift_variant others(1): Show |
HIGH | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0016 | 1 | 378 | 0.0026 | 20 | c.-20 others(26): Show |
p.Met others(3): Show |
USP14 | ENSG00000101557.15 | transcript | ENST00000261601.8 | protein_coding | 1/16 | 143/4972 | 1/1485 | 1/494 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||
USP17L17_chr4_9238879_9250471 | 9243899 | C | G | stop_gained | HIGH | HG01074.hp1 HG01517.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0011a0001c0018a0001c0088 | a0001c0011t0001a0001c0018t0001a0001c0088t0001 | a0001c0011t0001g0000 a0001c0018t0001g0000 a0001c0088t0001g0000 |
8 | 198 | 0.0404 | 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 | |||
USP17L20_chr4_9253124_9264716 | 9258279 | T | A | stop_gained | HIGH | HG01261.hp2 HG01346.hp2 HG02132.hp2 others(7): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0022 | a0001c0001t0001a0004c0004t0001a0010c0022t0001 | a0001c0001t0001g0000 a0004c0004t0001g0000 a0010c0022t0001g0000 |
10 | 234 | 0.0427 | 0 | c.156 others(3): Show |
p.Cys others(3): Show |
USP17L20 | ENSG00000250745.3 | transcript | ENST00000506151.1 | protein_coding | 1/1 | 156/1593 | 156/1593 | 52/530 | chr4 | TogoVar | |||
USP17L30_chr4_9358129_9369721 | 9364065 | G | T | stop_gained | HIGH | HG00673.hp1 HG01081.hp2 HG01243.hp1 others(27): Show |
a0004a0005a0009others(1): Show | a0004c0008a0004c0020a0004c0030others(6): Show | a0004c0008t0001a0004c0020t0001a0004c0030t0001others(6): Show | a0004c0008t0001g0000 a0004c0020t0001g0000 a0004c0030t0001g0000 others(6): Show |
30 | 330 | 0.0909 | 0 | c.937 others(3): Show |
p.Gly others(4): Show |
USP17L30 | ENSG00000228856.3 | transcript | ENST00000504104.1 | protein_coding | 1/1 | 937/1593 | 937/1593 | 313/530 | 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 | |||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0009a0001c0042others(26): Show | a0001c0001t0001a0001c0001t0021a0001c0009t0002others(44): Show | a0001c0001t0001g0008 a0001c0001t0021g0008 a0001c0009t0002g0001 others(61): Show |
137 | 270 | 0.5074 | 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 |
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 | |||
VSIG10L2_chr11_125941044_125961319 | 125952060 | C | A | stop_gained | HIGH | HG03927.hp1 HG04228.hp2 |
a0011 | a0011c0018 | a0011c0018t0001 | a0011c0018t0001g0001 | 2 | 444 | 0.0045 | 0 | c.148 others(4): Show |
p.Cys others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 6/12 | 1494/2799 | 1482/2382 | 494/793 | chr11 | TogoVar | |||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0009a0012others(7): Show | a0002c0002a0002c0042a0002c0043others(9): Show | a0002c0002t0002a0002c0042t0002a0002c0043t0002others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show |
72 | 372 | 0.1935 | 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 |
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 | |||
ZAN_chr7_100728595_100802797 | 100773853 | TG | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(147): Show |
a0002a0005a0006others(24): Show | a0002c0003a0002c0012a0002c0017others(65): Show | a0002c0003t0001a0002c0012t0001a0002c0017t0001others(65): Show | a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 others(147): Show |
150 | 306 | 0.4902 | -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 | 100779516 | A | AGGGC | frameshift_variant | HIGH | HG01928.hp1 HG02015.hp1 HG02132.hp2 others(19): Show |
a0002a0005 | a0002c0069a0005c0005a0005c0009others(3): Show | a0002c0069t0001a0005c0005t0001a0005c0009t0001others(3): Show | a0002c0069t0001g0180 a0005c0005t0001g0069 a0005c0005t0001g0070 others(19): Show |
22 | 306 | 0.0719 | 4 | c.639 others(13): Show |
p.Ala others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/48 | 6591/8700 | 6395/8439 | 2132/2812 | INFO_REALIGN_3_PRIME | chr7 | 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 | ||||||
ZFPM1_chr16_88448280_88542031 | 88533830 | G | GC | frameshift_variant | HIGH | HG01192.hp2 HG02027.hp1 HG02071.hp1 others(8): Show |
a0008a0009a0018others(1): Show | a0008c0024a0008c0041a0008c0048others(4): Show | a0008c0024t0001a0008c0024t0013a0008c0041t0050others(7): Show | a0008c0024t0001g0121 a0008c0024t0013g0025 a0008c0041t0050g0155 others(8): Show |
11 | 316 | 0.0348 | 1 | c.187 others(5): Show |
p.Gly others(5): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 10/10 | 2238/5432 | 1879/3021 | 627/1006 | INFO_REALIGN_3_PRIME | 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 | ||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006 | a0002c0002a0002c0015a0002c0016others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0007others(7): Show | a0002c0002t0003g0003 a0002c0002t0003g0005 a0002c0002t0003g0009 others(23): Show |
118 | 380 | 0.3105 | 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 |
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 | |||
ZNF316_chr7_6632318_6663279 | 6653564 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG01192.hp1 HG01934.hp2 others(5): Show |
a0009a0011a0015others(1): Show | a0009c0014a0009c0019a0011c0018others(2): Show | a0009c0014t0002a0009c0014t0073a0009c0019t0002others(4): Show | a0009c0014t0002g0017 a0009c0014t0073g0169 a0009c0019t0002g0030 others(5): Show |
8 | 420 | 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 | ||
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 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(10): Show | a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0234 others(37): Show |
45 | 401 | 0.1122 | 1 | c.-16 others(7): Show |
ZNF383 | ENSG00000188283.12 | transcript | ENST00000684119.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF414_chr19_8504678_8519167 | 8511858 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00741.hp2 HG01109.hp1 others(27): Show |
a0004a0005a0006 | a0004c0004a0004c0010a0005c0005others(2): Show | a0004c0004t0001a0004c0004t0011a0004c0010t0001others(8): Show | a0004c0004t0001g0008 a0004c0004t0001g0016 a0004c0004t0011g0044 others(12): Show |
30 | 420 | 0.0714 | 1 | c.632 others(4): Show |
p.Ala others(5): Show |
ZNF414 | ENSG00000133250.14 | transcript | ENST00000393927.9 | protein_coding | 5/8 | 753/2307 | 632/1173 | 211/390 | chr19 | TogoVar | |||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0007a0002c0016others(4): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0025 others(33): Show |
109 | 408 | 0.2672 | 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(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 | ||||||
ZNF567_chr19_36682612_36726336 | 36689395 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(154): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show |
157 | 384 | 0.4089 | 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 | 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 | |||
ZNF579_chr19_55571774_55585848 | 55578182 | C | CG | frameshift_variant | HIGH | HG01099.hp2 HG01109.hp2 HG01192.hp1 others(11): Show |
a0012a0013a0014others(2): Show | a0012c0015a0013c0019a0013c0033others(3): Show | a0012c0015t0002a0013c0019t0002a0013c0033t0001others(3): Show | a0012c0015t0002g0026 a0012c0015t0002g0032 a0012c0015t0002g0064 others(5): Show |
14 | 403 | 0.0347 | 1 | c.145 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1513/2922 | 1457/1689 | 486/562 | 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 | 55482244 | G | GC | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00642.hp2 others(22): Show |
a0004a0005a0007others(3): Show | a0004c0054a0004c0055a0004c0082others(13): Show | a0004c0054t0001a0004c0055t0001a0004c0082t0001others(13): Show | a0004c0054t0001g0128 a0004c0055t0001g0043 a0004c0082t0001g0131 others(20): Show |
25 | 420 | 0.0595 | 1 | c.105 others(5): Show |
p.Ala others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1325/3562 | 1057/3180 | 353/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF628_chr19_55471617_55489487 | 55482444 | G | GC | frameshift_variant | HIGH | HG01261.hp2 HG03710.hp1 HG03927.hp2 others(9): Show |
a0004a0011a0014others(4): Show | a0004c0082a0004c0083a0004c0084others(9): Show | a0004c0082t0001a0004c0083t0001a0004c0084t0001others(9): Show | a0004c0082t0001g0131 a0004c0083t0001g0096 a0004c0084t0001g0052 others(9): Show |
12 | 420 | 0.0286 | 1 | c.125 others(5): Show |
p.Gln others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1525/3562 | 1257/3180 | 419/1059 | 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 | ||
ZNF628_chr19_55471617_55489487 | 55482860 | A | AC | frameshift_variant | HIGH | HG01993.hp2 HG02080.hp1 HG03669.hp1 others(6): Show |
a0004a0005a0007others(4): Show | a0004c0082a0004c0084a0005c0061others(6): Show | a0004c0082t0001a0004c0084t0001a0005c0061t0001others(6): Show | a0004c0082t0001g0131 a0004c0084t0001g0052 a0005c0061t0001g0001 others(6): Show |
9 | 419 | 0.0215 | 1 | c.166 others(5): Show |
p.Arg others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1938/3562 | 1670/3180 | 557/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF697_chr1_119614377_119653266 | 119623303 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
a0002a0005 | a0002c0003a0002c0005a0002c0011others(1): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(18): Show | a0002c0003t0002g0194 a0002c0003t0002g0205 a0002c0003t0002g0210 others(24): Show |
27 | 392 | 0.0689 | 1 | c.103 others(5): Show |
p.Ala others(5): Show |
ZNF697 | ENSG00000143067.5 | transcript | ENST00000421812.3 | protein_coding | 3/3 | 1652/5579 | 1039/1638 | 347/545 | chr1 | TogoVar | |||
ZNF701_chr19_52565287_52592174 | 52582825 | C | T | stop_gained | HIGH | HG03927.hp1 | a0006 | a0006c0015 | a0006c0015t0002 | a0006c0015t0002g0017 | 1 | 454 | 0.0022 | 0 | c.766 others(3): Show |
p.Arg others(4): Show |
ZNF701 | ENSG00000167562.14 | transcript | ENST00000391785.8 | protein_coding | 4/4 | 881/5230 | 766/1398 | 256/465 | chr19 | 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 | |||
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 | ||
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(460): Show |
frameshift_variant others(1): Show |
HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(139): Show |
a0002a0005a0011others(1): Show | a0002c0002a0002c0014a0005c0006others(2): Show | a0002c0002t0002a0002c0014t0002a0005c0006t0002others(2): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(72): Show |
142 | 424 | 0.3349 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(280): Show |
295 | 322 | 0.9161 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(213): Show |
223 | 322 | 0.6925 | 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 |