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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP17L4_chr8_7332115_7343707 | 7337385 | G | T | stop_gained | HIGH | HG01884.hp2 HG02818.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 388 | 0.0077 | 0 | c.271 others(3): Show |
p.Glu others(3): Show |
USP17L4 | ENSG00000236125.3 | transcript | ENST00000526929.1 | protein_coding | 1/1 | 271/1593 | 271/1593 | 91/530 | chr8 | 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 | |||
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 | |||
WFDC10B_chr20_45679651_45710019 | 45704917 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00741.hp2 HG01243.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0243 a0001c0001t0001g0244 others(1): Show |
5 | 438 | 0.0114 | 0 | c.-13 others(6): Show |
WFDC10B | ENSG00000182931.10 | transcript | ENST00000330523.10 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
ZAN_chr7_100728595_100802797 | 100729949 | GGCTCACT others(13137): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(48): Show |
a0003a0010a0014others(3): Show | a0003c0002a0003c0095a0003c0098others(12): Show | a0003c0002t0002a0003c0095t0002a0003c0098t0002others(12): Show | a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(47): Show |
51 | 306 | 0.1667 | -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(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 | 100779751 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(77): Show |
a0003a0004a0008others(10): Show | a0003c0002a0003c0095a0003c0098others(15): Show | a0003c0002t0002a0003c0095t0002a0003c0098t0002others(15): Show | a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(76): Show |
80 | 306 | 0.2614 | 0 | c.662 others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | 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 | ||||||
ZC3H12B_chrX_65029826_65512887 | 65497128 | T | TA | splice_acceptor_variant others(1): Show |
HIGH | HG00735.hp2 HG00738.hp1 HG01081.hp1 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0130 a0001c0001t0002g0131 others(55): Show |
58 | 165 | 0.3515 | 1 | c.609 others(6): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3HAV1L_chr7_139020706_139041042 | 139026545 | T | A | stop_lost | HIGH | NA19043.hp2 | a0004 | a0004c0006 | a0004c0006t0017 | a0004c0006t0017g0041 | 1 | 408 | 0.0025 | 0 | c.902 others(3): Show |
p.Ter others(11): Show |
ZC3HAV1L | ENSG00000146858.8 | transcript | ENST00000275766.2 | protein_coding | 5/5 | 927/1766 | 902/903 | 301/300 | chr7 | 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 | |||
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 | ||
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 | |||
ZNF134_chr19_57609242_57629724 | 57620502 | C | G | stop_gained | HIGH | NA19043.hp2 | a0009 | a0009c0010 | a0009c0010t0013 | a0009c0010t0013g0034 | 1 | 422 | 0.0024 | 0 | c.383 others(3): Show |
p.Ser others(4): Show |
ZNF134 | ENSG00000213762.12 | transcript | ENST00000396161.10 | protein_coding | 3/3 | 702/4924 | 383/1284 | 128/427 | chr19 | TogoVar | |||
ZNF134_chr19_57609242_57629724 | 57620543 | C | CGTCATAG others(18): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0009 | a0009c0010 | a0009c0010t0013 | a0009c0010t0013g0034 | 1 | 422 | 0.0024 | 25 | c.424 others(32): Show |
p.Gln others(5): Show |
ZNF134 | ENSG00000213762.12 | transcript | ENST00000396161.10 | protein_coding | 3/3 | 744/4924 | 425/1284 | 142/427 | chr19 | TogoVar | |||
ZNF134_chr19_57609242_57629724 | 57620764 | CAAAGCTA others(6): Show |
C | frameshift_variant | HIGH | NA19043.hp2 | a0009 | a0009c0010 | a0009c0010t0013 | a0009c0010t0013g0034 | 1 | 422 | 0.0024 | -13 | c.646 others(20): Show |
p.Lys others(5): Show |
ZNF134 | ENSG00000213762.12 | transcript | ENST00000396161.10 | protein_coding | 3/3 | 965/4924 | 646/1284 | 216/427 | chr19 | TogoVar | |||
ZNF134_chr19_57609242_57629724 | 57620842 | C | CAGTCGAA others(21): Show |
frameshift_variant | HIGH | NA19043.hp2 | a0009 | a0009c0010 | a0009c0010t0013 | a0009c0010t0013g0034 | 1 | 422 | 0.0024 | 28 | c.731 others(35): Show |
p.Asp others(5): Show |
ZNF134 | ENSG00000213762.12 | transcript | ENST00000396161.10 | protein_coding | 3/3 | 1051/4924 | 732/1284 | 244/427 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(136): Show |
a0002a0004a0005others(1): Show | a0002c0003a0002c0004a0004c0005others(2): Show | a0002c0003t0001a0002c0004t0001a0004c0005t0001others(2): Show | a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0008 others(87): Show |
139 | 406 | 0.3424 | -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 | 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 | ||||||
ZNF404_chr19_43867365_43888964 | 43873778 | G | GGTGCAAA others(1879): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp2 NA19043.hp2 |
a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0029 | 2 | 364 | 0.0055 | 1886 | c.435 others(1893): Show |
p.Leu others(5): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 435/1849 | 435/1659 | 145/552 | 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 | |||||||
ZNF474_chr5_122124546_122158569 | 122152940 | AT | A | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0003a0004a0006others(2): Show | a0003c0003a0003c0013a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0007 others(76): Show |
85 | 384 | 0.2214 | -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 | ||
ZNF491_chr19_11793523_11813503 | 11806404 | C | T | stop_gained | HIGH | HG02922.hp1 NA19043.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0042 | 2 | 388 | 0.0052 | 0 | c.451 others(3): Show |
p.Arg others(4): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3/3 | 789/2888 | 451/1314 | 151/437 | chr19 | TogoVar | |||
ZNF492_chr19_22629324_22672671 | 22634474 | GGT | G | splice_donor_variant others(2): Show |
HIGH | HG01081.hp2 HG01884.hp2 HG01891.hp1 others(36): Show |
a0004a0006a0009others(1): Show | a0004c0004a0006c0006a0009c0008others(1): Show | a0004c0004t0005a0004c0004t0006a0004c0004t0007others(8): Show | a0004c0004t0005g0209 a0004c0004t0005g0212 a0004c0004t0005g0213 others(36): Show |
39 | 364 | 0.1071 | -2 | c.-94 others(13): Show |
ZNF492 | ENSG00000229676.3 | transcript | ENST00000456783.3 | protein_coding | 1/3 | 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 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0043 a0001c0001t0001g0122 a0001c0001t0001g0175 others(9): Show |
41 | 227 | 0.1806 | 2 | c.-13 others(15): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF577_chr19_51862048_51892951 | 51873206 | G | A | stop_gained | HIGH | NA19043.hp1 | a0021 | a0021c0018 | a0021c0018t0041 | a0021c0018t0041g0104 | 1 | 382 | 0.0026 | 0 | c.784 others(3): Show |
p.Arg others(4): Show |
ZNF577 | ENSG00000161551.15 | transcript | ENST00000638348.2 | protein_coding | 6/6 | 2133/8291 | 784/1458 | 262/485 | chr19 | TogoVar | |||
ZNF614_chr19_52008324_52033379 | 52024483 | GTGGGGAA others(1720): Show |
G | exon_loss_variant others(1): Show |
HIGH | NA19043.hp1 | a0009 | a0009c0013 | a0009c0013t0021 | a0009c0013t0021g0065 | 1 | 414 | 0.0024 | -1727 | c.-21 others(16): Show |
ZNF614 | ENSG00000142556.19 | transcript | ENST00000270649.11 | protein_coding | 2/5 | 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 | |||
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 | ||||||
ZNF721_chr4_434988_504156 | 441751 | CAG | C | frameshift_variant | HIGH | HG02965.hp1 HG04199.hp1 HG04204.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0099 a0005c0006t0004g0165 a0005c0006t0004g0185 others(2): Show |
5 | 322 | 0.0155 | -2 | c.271 others(11): Show |
p.Ser others(5): Show |
ZNF721 | ENSG00000182903.16 | transcript | ENST00000511833.3 | protein_coding | 3/3 | 2909/4673 | 2714/2772 | 905/923 | chr4 | TogoVar | |||
ZNF790_chr19_36812428_36843387 | 36819380 | G | A | stop_gained | HIGH | NA19043.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0131 | 1 | 358 | 0.0028 | 0 | c.964 others(3): Show |
p.Arg others(4): Show |
ZNF790 | ENSG00000197863.9 | transcript | ENST00000356725.9 | protein_coding | 5/5 | 1088/3040 | 964/1911 | 322/636 | chr19 | TogoVar | |||
ZNF860_chr3_31976750_31996723 | 31989506 | C | T | stop_gained | HIGH | HG00639.hp2 HG01175.hp2 HG01243.hp1 others(18): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0013 | a0004c0004t0001g0005 a0004c0004t0001g0028 a0004c0004t0013g0005 |
21 | 412 | 0.0510 | 0 | c.427 others(3): Show |
p.Arg others(4): Show |
ZNF860 | ENSG00000197385.6 | transcript | ENST00000360311.5 | protein_coding | 2/2 | 1000/3217 | 427/1899 | 143/632 | chr3 | TogoVar | |||
ZNF891_chr12_133099779_133135274 | 133121909 | TA | T | frameshift_variant | HIGH | HG01167.hp2 HG01169.hp1 HG01934.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0011 | a0004c0004t0011g0009 a0004c0004t0011g0167 a0004c0004t0011g0183 |
7 | 380 | 0.0184 | -1 | c.9de others(2): Show |
p.Met others(3): Show |
ZNF891 | ENSG00000214029.6 | transcript | ENST00000537226.3 | protein_coding | 2/2 | 163/17294 | 9/1635 | 3/544 | chr12 | 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 | ||
ZRANB3_chr2_135191969_135536218 | 135207432 | A | G | splice_donor_variant others(1): Show |
HIGH | HG03130.hp1 NA19043.hp2 NA21309.hp2 |
a0006 | a0006c0008 | a0006c0008t0009 | a0006c0008t0009g0081 a0006c0008t0009g0082 a0006c0008t0009g0110 |
3 | 212 | 0.0142 | 0 | c.300 others(6): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 19/20 | chr2 | TogoVar |