regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TOP1_chr20_41023822_41129487 | 41110246 | CTG | C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336a0001c0001t0001g0337a0001c0001t0001g0338 | 3 | 380 | 0.0079 | -2 | c.130 others(21): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TOP1_chr20_41023822_41129487 | 41117380 | ATT | A | intron_variant | MODIFIER | HG01255.hp2 HG02273.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238a0001c0001t0001g0243a0001c0001t0001g0252others(6): Show | 9 | 380 | 0.0237 | -2 | c.182 others(19): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TOP1_chr20_41023822_41129487 | 41127376 | CTG | C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG02572.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0005a0001c0001t0001g0040a0001c0001t0001g0065others(18): Show | 22 | 380 | 0.0579 | -2 | c.*40 others(13): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 2890 | chr20 | TogoVar | ||||||
TOP2A_chr17_40383525_40422896 | 40397285 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01109.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0056a0001c0001t0001g0151a0001c0001t0001g0159others(14): Show | 20 | 258 | 0.0775 | -2 | c.353 others(19): Show |
TOP2A | ENSG00000131747.15 | transcript | ENST00000423485.6 | protein_coding | 27/34 | chr17 | TogoVar | ||||||
TOP2A_chr17_40383525_40422896 | 40409194 | CAA | C | intron_variant | MODIFIER | HG01081.hp1 HG01943.hp1 HG02451.hp2 others(10): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0061a0001c0001t0001g0062others(6): Show | 13 | 258 | 0.0504 | -2 | c.120 others(19): Show |
TOP2A | ENSG00000131747.15 | transcript | ENST00000423485.6 | protein_coding | 10/34 | chr17 | TogoVar | ||||||
TOP2B_chr3_25592984_25669907 | 25619303 | ACT | A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02559.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0030a0001c0004t0002g0031a0001c0004t0002g0096others(7): Show | 10 | 310 | 0.0323 | -2 | c.306 others(19): Show |
TOP2B | ENSG00000077097.17 | transcript | ENST00000264331.9 | protein_coding | 23/35 | chr3 | TogoVar | ||||||
TOP2B_chr3_25592984_25669907 | 25638314 | TAA | T | splice_region_variant others(1): Show |
LOW | HG00673.hp1 HG03834.hp1 HG04115.hp2 others(4): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0006c0010 | a0001c0002t0004a0002c0003t0002a0002c0003t0003others(1): Show | a0001c0002t0004g0153a0002c0003t0002g0105a0002c0003t0002g0118others(4): Show | 7 | 310 | 0.0226 | -2 | c.396 others(13): Show |
TOP2B | ENSG00000077097.17 | transcript | ENST00000264331.9 | protein_coding | 4/35 | chr3 | TogoVar | ||||||
TOP2B_chr3_25592984_25669907 | 25663941 | GAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(86): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0004a0001c0007others(4): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(6): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0003others(79): Show | 89 | 310 | 0.2871 | -2 | c.69+ others(15): Show |
TOP2B | ENSG00000077097.17 | transcript | ENST00000264331.9 | protein_coding | 1/35 | chr3 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18275293 | CAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00609.hp1 others(81): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0008others(57): Show | 84 | 388 | 0.2165 | -2 | c.282 others(19): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 18/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18277185 | CAA | C | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG02559.hp1 others(10): Show |
a0001 | a0001c0001a0001c0005a0001c0018 | a0001c0001t0002a0001c0001t0003a0001c0005t0009others(3): Show | a0001c0001t0002g0234a0001c0001t0002g0250a0001c0001t0002g0330others(8): Show | 13 | 388 | 0.0335 | -2 | c.282 others(19): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 18/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18305486 | ACG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(47): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0009 | a0001c0001t0003a0001c0001t0012a0001c0001t0015others(4): Show | a0001c0001t0003g0024a0001c0001t0003g0216a0001c0001t0003g0256others(46): Show | 50 | 388 | 0.1289 | -2 | c.391 others(17): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 4/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18307909 | CAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01934.hp2 HG02109.hp2 others(10): Show |
a0002a0004a0011 | a0002c0003a0004c0007a0011c0011 | a0002c0003t0005a0002c0003t0023a0004c0007t0008others(1): Show | a0002c0003t0005g0013a0002c0003t0005g0094a0002c0003t0005g0095others(9): Show | 13 | 388 | 0.0335 | -2 | c.314 others(17): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18308223 | CAA | C | intron_variant | MODIFIER | HG01934.hp2 HG02615.hp2 HG02723.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0006a0004c0007others(1): Show | a0001c0001t0011a0001c0001t0024a0003c0006t0006others(2): Show | a0001c0001t0011g0220a0001c0001t0024g0104a0003c0006t0006g0110others(6): Show | 9 | 388 | 0.0232 | -2 | c.314 others(17): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18313573 | TAA | T | intron_variant | MODIFIER | HG01993.hp1 HG02559.hp1 HG02559.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0004a0001c0004t0007a0001c0005t0009others(2): Show | a0001c0002t0004g0043a0001c0002t0004g0044a0001c0004t0007g0032others(5): Show | 10 | 388 | 0.0258 | -2 | c.180 others(19): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18313590 | AAG | A | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG02109.hp2 others(21): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0006a0004c0007others(1): Show | a0002c0003t0005a0002c0003t0023a0003c0006t0006others(2): Show | a0002c0003t0005g0013a0002c0003t0005g0094a0002c0003t0005g0095others(20): Show | 24 | 388 | 0.0619 | -2 | c.180 others(19): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
TOP3A_chr17_18266428_18319994 | 18314107 | CTG | C | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0005a0001c0018 | a0001c0005t0009a0001c0005t0025a0001c0005t0026others(1): Show | a0001c0005t0009g0004a0001c0005t0009g0106a0001c0005t0009g0107others(3): Show | 8 | 388 | 0.0206 | -2 | c.180 others(17): Show |
TOP3A | ENSG00000177302.16 | transcript | ENST00000321105.10 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
TOP3B_chr22_21952025_21987787 | 21969660 | CAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(53): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0004c0011t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0016others(33): Show | 56 | 348 | 0.1609 | -2 | c.581 others(17): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 6/17 | chr22 | TogoVar | ||||||
TOP3B_chr22_21952025_21987787 | 21969930 | ATT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(163): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0009others(98): Show | 166 | 348 | 0.4770 | -2 | c.581 others(17): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 6/17 | chr22 | TogoVar | ||||||
TOP3B_chr22_21952025_21987787 | 21973450 | GTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0016others(32): Show | 55 | 348 | 0.1581 | -2 | c.203 others(17): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 3/17 | chr22 | TogoVar | ||||||
TOP3B_chr22_21952025_21987787 | 21977532 | CAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01074.hp1 others(25): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0011 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0036others(13): Show | 28 | 348 | 0.0805 | -2 | c.-98 others(19): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 1/17 | chr22 | TogoVar | ||||||
TOP3B_chr22_21952025_21987787 | 21978728 | CAG | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(28): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0007others(2): Show | a0001c0001t0001g0010a0001c0001t0001g0038a0001c0001t0001g0111others(12): Show | 31 | 348 | 0.0891 | -2 | c.-98 others(19): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 1/17 | chr22 | TogoVar | ||||||
TOP3B_chr22_21952025_21987787 | 21983918 | GTT | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(53): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0016others(35): Show | 56 | 348 | 0.1609 | -2 | c.-12 others(13): Show |
TOP3B | ENSG00000100038.20 | transcript | ENST00000357179.10 | protein_coding | 1132 | chr22 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44239846 | CAG | C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03490.hp2 NA18906.hp2 |
a0001a0013 | a0001c0001a0013c0014 | a0001c0001t0001a0013c0014t0001 | a0001c0001t0001g0013a0001c0001t0001g0108a0013c0014t0001g0019 | 3 | 258 | 0.0116 | -2 | c.-22 others(13): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 2039 | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44239857 | AGT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(54): Show |
a0002a0003a0008others(3): Show | a0002c0002a0002c0005a0002c0006others(5): Show | a0002c0002t0001a0002c0005t0001a0002c0006t0001others(5): Show | a0002c0002t0001g0004a0002c0002t0001g0117a0002c0002t0001g0118others(52): Show | 57 | 258 | 0.2209 | -2 | c.-21 others(13): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 2028 | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44245530 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(55): Show |
a0002a0017 | a0002c0002a0002c0005a0002c0006others(1): Show | a0002c0002t0001a0002c0005t0001a0002c0006t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0113a0002c0002t0001g0114others(53): Show | 58 | 258 | 0.2248 | -2 | c.276 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44251114 | TTC | T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02886.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0138a0002c0002t0001g0139a0002c0002t0001g0140others(4): Show | 7 | 258 | 0.0271 | -2 | c.276 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44254627 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0015a0001c0016others(18): Show | a0001c0001t0001a0001c0015t0001a0001c0016t0001others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(184): Show | 191 | 258 | 0.7403 | -2 | c.276 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44255670 | TAC | T | intron_variant | MODIFIER | HG01175.hp1 HG02647.hp2 HG02683.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0193a0003c0003t0002g0222a0003c0003t0002g0223others(4): Show | 7 | 258 | 0.0271 | -2 | c.282 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44255720 | CAT | C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01167.hp1 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0017a0002c0002others(5): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0072others(16): Show | 20 | 258 | 0.0775 | -2 | c.282 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44257352 | GGT | G | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp1 NA18970.hp1 others(1): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0002a0003c0004t0002 | a0003c0003t0002g0190a0003c0003t0002g0204a0003c0003t0002g0229others(1): Show | 4 | 258 | 0.0155 | -2 | c.295 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44257469 | AGT | A | intron_variant | MODIFIER | HG00408.hp1 HG01358.hp1 HG01928.hp2 others(12): Show |
a0003 | a0003c0003a0003c0004 | a0003c0003t0002a0003c0004t0002 | a0003c0003t0002g0162a0003c0003t0002g0187a0003c0003t0002g0198others(12): Show | 15 | 258 | 0.0581 | -2 | c.295 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44267289 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(93): Show |
a0001a0007a0011others(3): Show | a0001c0001a0001c0015a0001c0016others(5): Show | a0001c0001t0001a0001c0015t0001a0001c0016t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(92): Show | 96 | 258 | 0.3721 | -2 | c.316 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44268366 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(94): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0015a0001c0016others(7): Show | a0001c0001t0001a0001c0015t0001a0001c0016t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0009others(93): Show | 97 | 258 | 0.3760 | -2 | c.316 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44271600 | ATT | A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0010others(3): Show | 7 | 258 | 0.0271 | -2 | c.337 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44298909 | ATT | A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG03041.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0160a0002c0002t0001g0161others(1): Show | 5 | 258 | 0.0194 | -2 | c.379 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44298938 | CCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0001a0007a0009others(4): Show | a0001c0001a0001c0015a0001c0016others(7): Show | a0001c0001t0001a0001c0015t0001a0001c0016t0001others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0020others(69): Show | 72 | 258 | 0.2791 | -2 | c.379 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | chr3 | TogoVar | ||||||
TOPAZ1_chr3_44236886_44337098 | 44303479 | CTT | C | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG00733.hp2 others(43): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0015a0002c0002others(3): Show | a0001c0001t0001a0001c0015t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0036others(43): Show | 46 | 258 | 0.1783 | -2 | c.379 others(19): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44313617 | CAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp2 HG01243.hp2 others(26): Show |
a0002a0017 | a0002c0002a0002c0025a0017c0023 | a0002c0002t0001a0002c0025t0001a0017c0023t0001 | a0002c0002t0001g0137a0002c0002t0001g0138a0002c0002t0001g0139others(26): Show | 29 | 258 | 0.1124 | -2 | c.430 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPAZ1_chr3_44236886_44337098 | 44315200 | CGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp2 others(84): Show |
a0002a0004a0015others(2): Show | a0002c0002a0002c0005a0002c0006others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0006t0001others(7): Show | a0002c0002t0001g0004a0002c0002t0001g0113a0002c0002t0001g0114others(82): Show | 87 | 258 | 0.3372 | -2 | c.430 others(21): Show |
TOPAZ1 | ENSG00000173769.4 | transcript | ENST00000309765.4 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TOPBP1_chr3_133595238_133666941 | 133596801 | CTT | C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01517.hp2 HG02630.hp1 others(6): Show |
a0001a0002a0005others(1): Show | a0001c0004a0002c0002a0005c0007others(1): Show | a0001c0004t0001a0002c0002t0004a0005c0007t0001others(1): Show | a0001c0004t0001g0233a0002c0002t0004g0003a0005c0007t0001g0013others(4): Show | 9 | 340 | 0.0265 | -2 | c.*44 others(13): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 3436 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133597579 | GAA | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 NA18954.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0234a0001c0004t0001g0235a0001c0004t0001g0236 | 3 | 340 | 0.0088 | -2 | c.*36 others(13): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 2658 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133598026 | TAG | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(14): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0007 | a0004c0006t0003g0009a0004c0006t0003g0015a0004c0006t0003g0016others(11): Show | 17 | 340 | 0.0500 | -2 | c.*32 others(13): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 2211 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133606495 | CTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(14): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0007 | a0004c0006t0003g0009a0004c0006t0003g0015a0004c0006t0003g0016others(11): Show | 17 | 340 | 0.0500 | -2 | c.442 others(21): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 27/27 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133610189 | GCT | G | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(14): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0007 | a0004c0006t0003g0009a0004c0006t0003g0015a0004c0006t0003g0016others(11): Show | 17 | 340 | 0.0500 | -2 | c.417 others(19): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 25/27 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133610515 | CAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00609.hp2 others(45): Show |
a0001a0005a0012 | a0001c0004a0005c0007a0005c0015others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0011others(3): Show | a0001c0004t0001g0012a0001c0004t0001g0030a0001c0004t0001g0031others(36): Show | 48 | 340 | 0.1412 | -2 | c.417 others(19): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 25/27 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133612711 | CAT | C | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0201others(2): Show | 6 | 340 | 0.0177 | -2 | c.387 others(19): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 23/27 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133621813 | CAG | C | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02572.hp1 others(7): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0011a0001c0001t0001g0123a0001c0001t0001g0192others(5): Show | 10 | 340 | 0.0294 | -2 | c.317 others(21): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 19/27 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133651171 | CTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0036a0001c0004t0001g0012a0001c0004t0001g0233others(6): Show | 11 | 340 | 0.0324 | -2 | c.109 others(21): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 8/27 | chr3 | TogoVar | ||||||
TOPBP1_chr3_133595238_133666941 | 133655050 | TAA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp2 others(14): Show |
a0004 | a0004c0006 | a0004c0006t0003a0004c0006t0007 | a0004c0006t0003g0009a0004c0006t0003g0015a0004c0006t0003g0016others(11): Show | 17 | 340 | 0.0500 | -2 | c.742 others(17): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 6/27 | chr3 | TogoVar | ||||||
TOPORS_chr9_32535544_32557586 | 32557199 | CTG | C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0003a0002c0006t0001 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0085others(5): Show | 16 | 376 | 0.0426 | -2 | c.-47 others(13): Show |
TOPORS | ENSG00000197579.8 | transcript | ENST00000360538.7 | protein_coding | 4614 | chr9 | TogoVar |