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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TOMM70_chr3_100358431_100406089 | 100396014 | GTT | G | intron_variant | MODIFIER | HG01070.hp1 HG01168.hp2 HG02965.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0003g0284a0001c0001t0003g0285a0001c0001t0004g0066others(5): Show | 8 | 398 | 0.0201 | -2 | c.324 others(19): Show |
TOMM70 | ENSG00000154174.8 | transcript | ENST00000284320.6 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
TOMM70_chr3_100358431_100406089 | 100399734 | ATT | A | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02630.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0013a0001c0001t0002g0037a0001c0001t0002g0194others(8): Show | 14 | 398 | 0.0352 | -2 | c.324 others(17): Show |
TOMM70 | ENSG00000154174.8 | transcript | ENST00000284320.6 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
TOMM7_chr7_22807974_22827849 | 22814349 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(43): Show | 187 | 420 | 0.4452 | -2 | c.153 others(19): Show |
TOMM7 | ENSG00000196683.12 | transcript | ENST00000358435.9 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
TOMM7_chr7_22807974_22827849 | 22821405 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(305): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0008others(103): Show | 308 | 420 | 0.7333 | -2 | c.103 others(19): Show |
TOMM7 | ENSG00000196683.12 | transcript | ENST00000358435.9 | protein_coding | 1/2 | chr7 | TogoVar | ||||||
TOMT_chr11_72100924_72114596 | 72113953 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp1 others(83): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0002g0002others(4): Show | 86 | 402 | 0.2139 | -2 | c.*50 others(13): Show |
TOMT | ENSG00000284844.2 | transcript | ENST00000541899.3 | protein_coding | 4358 | chr11 | TogoVar | ||||||
TONSL_chr8_144423775_144449440 | 144445989 | CAA | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02622.hp2 others(20): Show |
a0001a0005a0007others(2): Show | a0001c0002a0001c0004a0005c0010others(3): Show | a0001c0002t0001a0001c0004t0002a0001c0004t0006others(5): Show | a0001c0002t0001g0002a0001c0002t0001g0005a0001c0002t0001g0146others(12): Show | 23 | 406 | 0.0567 | -2 | c.-15 others(13): Show |
TONSL | ENSG00000160949.18 | transcript | ENST00000409379.8 | protein_coding | 1550 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143305458 | CAG | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(21): Show |
a0002a0004a0017others(1): Show | a0002c0004a0002c0006a0002c0028others(4): Show | a0002c0004t0001a0002c0006t0001a0002c0028t0001others(4): Show | a0002c0004t0001g0043a0002c0004t0001g0097a0002c0004t0001g0098others(19): Show | 24 | 430 | 0.0558 | -2 | c.*39 others(13): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 3865 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143305871 | CTT | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp2 others(24): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0004a0002c0006others(6): Show | a0001c0001t0001a0002c0004t0001a0002c0006t0001others(6): Show | a0001c0001t0001g0131a0001c0001t0001g0255a0001c0001t0001g0259others(22): Show | 27 | 430 | 0.0628 | -2 | c.*35 others(13): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 3452 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143308729 | CCT | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01884.hp2 others(18): Show |
a0001a0002a0021 | a0001c0001a0002c0004a0002c0006others(4): Show | a0001c0001t0001a0002c0004t0001a0002c0006t0001others(4): Show | a0001c0001t0001g0332a0002c0004t0001g0011a0002c0004t0001g0012others(14): Show | 21 | 430 | 0.0488 | -2 | c.*71 others(11): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 594 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143311117 | ATT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01256.hp1 others(20): Show |
a0002a0003a0004others(2): Show | a0002c0003a0002c0004a0002c0006others(5): Show | a0002c0003t0001a0002c0004t0001a0002c0006t0001others(5): Show | a0002c0003t0001g0027a0002c0004t0001g0056a0002c0004t0001g0062others(17): Show | 23 | 430 | 0.0535 | -2 | c.155 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143311747 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(293): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0008a0001c0026others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(260): Show | 296 | 430 | 0.6884 | -2 | c.155 others(21): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321529 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321633 | CAG | C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG03041.hp2 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0074a0005c0010t0001g0083a0005c0010t0001g0084 | 3 | 430 | 0.0070 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321648 | CAG | C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01975.hp1 others(6): Show |
a0002a0005a0013 | a0002c0003a0002c0028a0005c0009others(1): Show | a0002c0003t0001a0002c0028t0001a0005c0009t0001others(1): Show | a0002c0003t0001g0027a0002c0003t0001g0075a0002c0003t0001g0076others(5): Show | 9 | 430 | 0.0209 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321656 | CCA | C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG03041.hp2 others(1): Show |
a0002a0005 | a0002c0029a0005c0010 | a0002c0029t0001a0005c0010t0001 | a0002c0029t0001g0174a0005c0010t0001g0074a0005c0010t0001g0083others(1): Show | 4 | 430 | 0.0093 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321738 | CCA | C | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG03041.hp2 |
a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0074a0005c0010t0001g0083a0005c0010t0001g0084 | 3 | 430 | 0.0070 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321754 | CAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01168.hp2 others(16): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0009others(1): Show | a0001c0001t0001a0001c0008t0001a0005c0009t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0102a0001c0001t0001g0165others(16): Show | 19 | 430 | 0.0442 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321778 | GCA | G | intron_variant | MODIFIER | HG01975.hp1 HG02922.hp1 NA18906.hp2 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047 | 3 | 430 | 0.0070 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321783 | CCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(52): Show |
a0002a0004a0017others(1): Show | a0002c0004a0002c0006a0002c0029others(5): Show | a0002c0004t0001a0002c0006t0001a0002c0029t0001others(5): Show | a0002c0004t0001g0003a0002c0004t0001g0011a0002c0004t0001g0012others(45): Show | 55 | 430 | 0.1279 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321826 | CTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00642.hp1 others(20): Show |
a0001a0002a0011 | a0001c0001a0001c0008a0002c0032others(1): Show | a0001c0001t0001a0001c0008t0001a0002c0032t0001others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0033a0001c0001t0001g0102others(19): Show | 23 | 430 | 0.0535 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321892 | CAG | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321932 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp1 others(134): Show |
a0001a0010a0011others(2): Show | a0001c0001a0001c0008a0010c0014others(3): Show | a0001c0001t0001a0001c0008t0001a0010c0014t0001others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(119): Show | 137 | 430 | 0.3186 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143321945 | CCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(64): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0004a0002c0006others(8): Show | a0001c0001t0001a0002c0004t0001a0002c0006t0001others(8): Show | a0001c0001t0001g0245a0002c0004t0001g0003a0002c0004t0001g0011others(55): Show | 67 | 430 | 0.1558 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322076 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(225): Show |
a0001a0008a0010others(6): Show | a0001c0001a0001c0008a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(201): Show | 228 | 430 | 0.5302 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322195 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(227): Show |
a0001a0008a0010others(6): Show | a0001c0001a0001c0008a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 230 | 430 | 0.5349 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322255 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.961 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322390 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(227): Show |
a0001a0002a0008others(7): Show | a0001c0001a0001c0008a0001c0026others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(11): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 230 | 430 | 0.5349 | -2 | c.961 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322609 | CAT | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.961 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322654 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.961 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322680 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02109.hp2 HG02486.hp2 others(17): Show |
a0002a0004a0005others(1): Show | a0002c0004a0002c0006a0004c0007others(3): Show | a0002c0004t0001a0002c0006t0001a0004c0007t0001others(3): Show | a0002c0004t0001g0043a0002c0004t0001g0097a0002c0004t0001g0098others(16): Show | 20 | 430 | 0.0465 | -2 | c.961 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322715 | CCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(48): Show |
a0002a0004a0021 | a0002c0004a0002c0006a0002c0028others(5): Show | a0002c0004t0001a0002c0006t0001a0002c0028t0001others(5): Show | a0002c0004t0001g0003a0002c0004t0001g0011a0002c0004t0001g0012others(40): Show | 51 | 430 | 0.1186 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322776 | CAG | C | intron_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02809.hp1 others(4): Show |
a0002a0004 | a0002c0006a0004c0007 | a0002c0006t0001a0004c0007t0001 | a0002c0006t0001g0218a0004c0007t0001g0040a0004c0007t0001g0368others(3): Show | 7 | 430 | 0.0163 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322784 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(227): Show |
a0001a0008a0010others(6): Show | a0001c0001a0001c0008a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(203): Show | 230 | 430 | 0.5349 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322839 | CCA | C | intron_variant | MODIFIER | HG00438.hp1 NA18612.hp2 NA18747.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0287a0001c0001t0001g0288others(4): Show | 9 | 430 | 0.0209 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322853 | AAC | A | intron_variant | MODIFIER | HG00438.hp1 NA18612.hp2 NA18747.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0287a0001c0001t0001g0288others(4): Show | 9 | 430 | 0.0209 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322915 | CCA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(226): Show |
a0001a0008a0010others(6): Show | a0001c0001a0001c0008a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(202): Show | 229 | 430 | 0.5326 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322928 | CCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(51): Show |
a0002a0004a0021 | a0002c0004a0002c0006a0002c0028others(5): Show | a0002c0004t0001a0002c0006t0001a0002c0028t0001others(5): Show | a0002c0004t0001g0003a0002c0004t0001g0011a0002c0004t0001g0012others(42): Show | 54 | 430 | 0.1256 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143322965 | CCA | C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02717.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027a0002c0003t0001g0075a0002c0003t0001g0076 | 4 | 430 | 0.0093 | -2 | c.960 others(19): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323323 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323456 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(3): Show |
a0005 | a0005c0009a0005c0010 | a0005c0009t0001a0005c0010t0001 | a0005c0009t0001g0045a0005c0009t0001g0046a0005c0009t0001g0047others(3): Show | 6 | 430 | 0.0140 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323572 | CCA | C | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG02717.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027a0002c0003t0001g0076 | 3 | 430 | 0.0070 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323589 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02647.hp2 others(6): Show |
a0002a0005a0021 | a0002c0028a0002c0034a0005c0009others(2): Show | a0002c0028t0001a0002c0034t0003a0005c0009t0001others(2): Show | a0002c0028t0001g0103a0002c0034t0003g0044a0005c0009t0001g0045others(6): Show | 9 | 430 | 0.0209 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323606 | CCA | C | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG02615.hp2 others(4): Show |
a0002a0005 | a0002c0032a0005c0009a0005c0010 | a0002c0032t0001a0005c0009t0001a0005c0010t0001 | a0002c0032t0001g0090a0005c0009t0001g0045a0005c0009t0001g0046others(4): Show | 7 | 430 | 0.0163 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323690 | CCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00597.hp1 others(84): Show |
a0002a0003a0006others(3): Show | a0002c0034a0003c0002a0003c0005others(6): Show | a0002c0034t0003a0003c0002t0001a0003c0005t0001others(6): Show | a0002c0034t0003g0044a0003c0002t0001g0002a0003c0002t0001g0005others(69): Show | 87 | 430 | 0.2023 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1MT_chr8_143304324_143339880 | 143323722 | CCA | C | intron_variant | MODIFIER | HG01975.hp1 HG02615.hp2 HG02717.hp1 others(5): Show |
a0002a0005a0013 | a0002c0034a0005c0009a0005c0010others(1): Show | a0002c0034t0003a0005c0009t0001a0005c0010t0001others(1): Show | a0002c0034t0003g0044a0005c0009t0001g0045a0005c0009t0001g0046others(5): Show | 8 | 430 | 0.0186 | -2 | c.960 others(17): Show |
TOP1MT | ENSG00000184428.13 | transcript | ENST00000329245.9 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
TOP1_chr20_41023822_41129487 | 41035615 | TTG | T | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(2): Show | 5 | 380 | 0.0132 | -2 | c.58+ others(17): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TOP1_chr20_41023822_41129487 | 41036677 | CAT | C | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01243.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0009a0001c0001t0001g0026a0001c0001t0001g0332others(21): Show | 24 | 380 | 0.0632 | -2 | c.58+ others(17): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 2/20 | chr20 | TogoVar | ||||||
TOP1_chr20_41023822_41129487 | 41073983 | CAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02135.hp2 HG02258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(11): Show | 14 | 380 | 0.0368 | -2 | c.156 others(19): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TOP1_chr20_41023822_41129487 | 41077948 | ATT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(220): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(215): Show | 223 | 380 | 0.5868 | -2 | c.335 others(17): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TOP1_chr20_41023822_41129487 | 41089020 | CTT | C | intron_variant | MODIFIER | NA18977.hp2 NA18978.hp2 NA18988.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0031others(4): Show | 8 | 380 | 0.0211 | -2 | c.615 others(19): Show |
TOP1 | ENSG00000198900.7 | transcript | ENST00000361337.3 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |