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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF678_chr1_227558556_227667461 | 227560364 | CTG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(159): Show |
a0001a0005a0008 | a0001c0001a0005c0005a0008c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(138): Show |
162 | 252 | 0.6429 | -2 | c.-35 others(13): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 3191 | chr1 | TogoVar | |||||||
ZNF678_chr1_227558556_227667461 | 227565054 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0002g0158 a0001c0001t0003g0007 a0001c0001t0003g0017 others(53): Show |
70 | 155 | 0.4516 | -2 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227566808 | ATT | A | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG02976.hp2 others(6): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0018a0001c0001t0051a0001c0001t0052others(2): Show | a0001c0001t0018g0155 a0001c0001t0051g0156 a0001c0001t0052g0157 others(4): Show |
9 | 392 | 0.0230 | -2 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227566881 | CAG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00597.hp1 others(88): Show |
a0001a0005a0008 | a0001c0001a0005c0005a0008c0008 | a0001c0001t0001a0001c0001t0017a0001c0001t0027others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(71): Show |
91 | 392 | 0.2321 | -2 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227573122 | CAG | C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG02602.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0044a0001c0001t0045 | a0001c0001t0006g0253 a0001c0001t0006g0255 a0001c0001t0044g0254 others(1): Show |
4 | 392 | 0.0102 | -2 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
ZNF678_chr1_227558556_227667461 | 227582175 | GCA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00733.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0266 a0001c0001t0004g0035 a0001c0001t0004g0040 others(60): Show |
67 | 392 | 0.1709 | -2 | c.-16 others(23): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227587251 | ATT | A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0001g0148 a0001c0001t0006g0240 a0001c0001t0012g0285 others(5): Show |
8 | 81 | 0.0988 | -2 | c.-16 others(23): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227593855 | TCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(67): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(11): Show | a0001c0001t0002g0011 a0001c0001t0002g0032 a0001c0001t0002g0037 others(54): Show |
70 | 307 | 0.2280 | -2 | c.-16 others(23): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227593867 | CTT | C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02809.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(1): Show | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0154 others(5): Show |
11 | 237 | 0.0464 | -2 | c.-16 others(23): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227635515 | TTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0163 a0001c0001t0002g0194 a0001c0001t0002g0204 others(18): Show |
23 | 116 | 0.1983 | -2 | c.-16 others(23): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227643863 | CTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0005 a0001c0001t0010g0049 a0001c0001t0010g0050 others(4): Show |
10 | 236 | 0.0424 | -2 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF678_chr1_227558556_227667461 | 227656050 | CTT | C | 3_prime_UTR_variant | MODIFIER | NA18973.hp1 NA19000.hp1 NA19011.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0022 | a0001c0001t0014g0003 a0001c0001t0014g0233 a0001c0001t0014g0279 others(2): Show |
5 | 392 | 0.0128 | -2 | c.*22 others(11): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 4/4 | 224 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF678_chr1_227558556_227667461 | 227659892 | AAC | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp1 others(41): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0010a0001c0001t0015others(8): Show | a0001c0001t0006g0016 a0001c0001t0006g0033 a0001c0001t0006g0240 others(35): Show |
44 | 391 | 0.1125 | -2 | c.*40 others(13): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 4/4 | 4066 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZNF679_chr7_64223474_64271931 | 64236973 | GAA | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0019 others(65): Show |
88 | 378 | 0.2328 | -2 | c.-91 others(19): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF679_chr7_64223474_64271931 | 64236999 | GAA | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00544.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(65): Show |
88 | 420 | 0.2095 | -2 | c.-91 others(19): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF679_chr7_64223474_64271931 | 64245419 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(152): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0034 others(114): Show |
155 | 420 | 0.3690 | -2 | c.-90 others(19): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF679_chr7_64223474_64271931 | 64254147 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(166): Show |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(122): Show |
169 | 420 | 0.4024 | -2 | c.39+ others(17): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF679_chr7_64223474_64271931 | 64255016 | AAG | A | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01346.hp1 others(9): Show |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0003 a0005c0005t0001g0077 a0005c0005t0001g0081 others(4): Show |
12 | 420 | 0.0286 | -2 | c.40- others(17): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZNF679_chr7_64223474_64271931 | 64268827 | GTT | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00738.hp1 others(58): Show |
a0003a0007a0008others(1): Show | a0003c0003a0007c0007a0008c0008others(1): Show | a0003c0003t0001a0007c0007t0001a0008c0008t0001others(1): Show | a0003c0003t0001g0010 a0003c0003t0001g0013 a0003c0003t0001g0015 others(44): Show |
61 | 402 | 0.1517 | -2 | c.*19 others(13): Show |
ZNF679 | ENSG00000197123.9 | transcript | ENST00000421025.3 | protein_coding | 1897 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64515040 | TCA | T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0257 a0001c0001t0003g0044 a0001c0001t0003g0071 others(6): Show |
10 | 103 | 0.0971 | -2 | c.*61 others(13): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 4837 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64515276 | AAC | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0008 others(54): Show |
74 | 382 | 0.1937 | -2 | c.*58 others(13): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 4601 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64532545 | CAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0008 others(54): Show |
74 | 382 | 0.1937 | -2 | c.254 others(21): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64544439 | AAC | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(137): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0014 others(108): Show |
140 | 315 | 0.4444 | -2 | c.31- others(11): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64545263 | CAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01070.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0260 a0001c0001t0002g0280 a0001c0001t0002g0281 others(20): Show |
26 | 148 | 0.1757 | -2 | c.31- others(15): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64550150 | CAG | C | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030 a0001c0001t0004g0168 |
3 | 382 | 0.0079 | -2 | c.31- others(17): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64550841 | TAG | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0014 others(46): Show |
66 | 382 | 0.1728 | -2 | c.31- others(17): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64553276 | AAT | A | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 a0001c0001t0007g0045 a0001c0001t0007g0077 |
4 | 382 | 0.0105 | -2 | c.31- others(17): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64555749 | TAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(105): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0004g0011 a0001c0001t0004g0030 a0001c0001t0004g0031 others(88): Show |
108 | 382 | 0.2827 | -2 | c.30+ others(17): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64556259 | TAA | T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0014 others(59): Show |
80 | 292 | 0.2740 | -2 | c.30+ others(17): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64566462 | CTG | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0004a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0004g0011 a0001c0001t0004g0030 a0001c0001t0004g0031 others(48): Show |
59 | 239 | 0.2469 | -2 | c.-35 others(13): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 3392 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64566493 | TTC | T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02056.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0002a0001c0001t0006a0001c0004t0008others(1): Show | a0001c0001t0002g0258 a0001c0001t0002g0264 a0001c0001t0002g0273 others(8): Show |
11 | 382 | 0.0288 | -2 | c.-35 others(13): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 3423 | chr7 | TogoVar | |||||||
ZNF680_chr7_64514878_64568071 | 64566495 | CTT | C | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG02257.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007 | a0001c0001t0003g0003 a0001c0001t0003g0018 a0001c0001t0003g0044 others(14): Show |
18 | 315 | 0.0571 | -2 | c.-35 others(13): Show |
ZNF680 | ENSG00000173041.12 | transcript | ENST00000309683.11 | protein_coding | 3425 | chr7 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23735657 | CCA | C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0015 a0004c0004t0008g0029 |
5 | 392 | 0.0128 | -2 | c.*79 others(13): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3537 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23736581 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(207): Show |
383 | 392 | 0.9770 | -2 | c.*70 others(13): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 2613 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23739336 | AAG | A | 3_prime_UTR_variant | MODIFIER | HG01123.hp2 HG01884.hp2 HG02055.hp2 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0018 a0005c0005t0010g0131 a0005c0005t0010g0138 others(1): Show |
6 | 392 | 0.0153 | -2 | c.*42 others(13): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 4274 | chr19 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23742715 | ATC | A | 3_prime_UTR_variant | MODIFIER | NA18984.hp1 NA18988.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0043 a0001c0001t0011g0044 |
4 | 392 | 0.0102 | -2 | c.*89 others(11): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 895 | chr19 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23744939 | CCA | C | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(36): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0003a0003c0003t0026others(2): Show | a0003c0003t0001g0004 a0003c0003t0001g0034 a0003c0003t0001g0036 others(23): Show |
39 | 392 | 0.0995 | -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 | |||
ZNF681_chr19_23734195_23763891 | 23746319 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(375): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0013a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(202): Show |
378 | 387 | 0.9767 | -2 | c.227 others(17): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23747639 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(92): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 others(57): Show |
95 | 109 | 0.8716 | -2 | c.227 others(19): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23750303 | ACC | A | intron_variant | MODIFIER | NA18970.hp1 NA18999.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0118 |
3 | 137 | 0.0219 | -2 | c.226 others(19): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23752518 | TAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(207): Show |
383 | 392 | 0.9770 | -2 | c.226 others(19): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23754131 | ACT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(380): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0006a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(207): Show |
383 | 392 | 0.9770 | -2 | c.226 others(17): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23755598 | CAT | C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0094 a0001c0001t0001g0123 others(27): Show |
43 | 392 | 0.1097 | -2 | c.4-4 others(11): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23760648 | CAT | C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02074.hp1 others(4): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0003a0008c0009others(1): Show | a0001c0001t0001a0003c0003t0003a0008c0009t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0047 a0003c0003t0003g0061 others(2): Show |
7 | 202 | 0.0347 | -2 | c.-19 others(13): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 1758 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23760669 | ATT | A | upstream_gene_variant | MODIFIER | HG02129.hp2 HG02258.hp2 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0016a0001c0001t0031others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0002g0118 others(6): Show |
15 | 337 | 0.0445 | -2 | c.-19 others(13): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 1779 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23761935 | TGA | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00639.hp1 others(118): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0005a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(60): Show |
121 | 392 | 0.3087 | -2 | c.-31 others(13): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3045 | chr19 | TogoVar | |||||||
ZNF682_chr19_19999418_20044505 | 20003190 | CAA | C | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02155.hp2 HG02735.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0005others(1): Show | a0001c0001t0002a0002c0003t0003a0002c0005t0003others(3): Show | a0001c0001t0002g0005 a0001c0001t0002g0232 a0002c0003t0003g0001 others(4): Show |
8 | 71 | 0.1127 | -2 | c.*28 others(13): Show |
ZNF682 | ENSG00000197124.12 | transcript | ENST00000397165.7 | protein_coding | 1227 | chr19 | TogoVar | |||||||
ZNF682_chr19_19999418_20044505 | 20006081 | ACT | A | frameshift_variant | HIGH | NA18946.hp1 NA18951.hp2 NA18972.hp1 others(5): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0011 a0005c0007t0001g0038 a0005c0007t0001g0173 |
8 | 382 | 0.0209 | -2 | c.141 others(11): Show |
p.Arg others(5): Show |
ZNF682 | ENSG00000197124.12 | transcript | ENST00000397165.7 | protein_coding | 4/4 | 1580/3244 | 1419/1497 | 473/498 | chr19 | TogoVar | |||
ZNF682_chr19_19999418_20044505 | 20018078 | CTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp1 HG02572.hp2 others(11): Show |
a0001a0004a0006 | a0001c0001a0004c0004a0006c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0002g0221 a0001c0001t0004g0018 a0001c0001t0004g0144 others(8): Show |
14 | 41 | 0.3415 | -2 | c.226 others(19): Show |
ZNF682 | ENSG00000197124.12 | transcript | ENST00000397165.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF682_chr19_19999418_20044505 | 20020062 | AAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(181): Show |
295 | 382 | 0.7723 | -2 | c.226 others(19): Show |
ZNF682 | ENSG00000197124.12 | transcript | ENST00000397165.7 | protein_coding | 3/3 | chr19 | TogoVar |