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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UQCC1_chr20_35297578_35416973 | 35321252 | CTG | C | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show |
4 | 256 | 0.0156 | -2 | c.574 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35321283 | TGC | T | intron_variant | MODIFIER | HG00597.hp2 NA18951.hp2 NA18970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0103 |
3 | 256 | 0.0117 | -2 | c.574 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35351391 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(86): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(4): Show | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 others(86): Show |
89 | 256 | 0.3477 | -2 | c.465 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35358356 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(95): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 others(95): Show |
98 | 256 | 0.3828 | -2 | c.464 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35382512 | CTT | C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0215 others(6): Show |
9 | 256 | 0.0352 | -2 | c.226 others(17): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 3/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35387798 | CTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(94): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 others(94): Show |
97 | 256 | 0.3789 | -2 | c.130 others(19): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35393503 | AAC | A | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01175.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0122 a0001c0001t0001g0211 a0001c0001t0001g0215 others(48): Show |
51 | 256 | 0.1992 | -2 | c.129 others(17): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35398753 | TGG | T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02015.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0122 a0001c0001t0001g0139 a0001c0001t0001g0148 others(36): Show |
39 | 256 | 0.1523 | -2 | c.25- others(17): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35404369 | CAA | C | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01167.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0122 a0001c0001t0001g0138 a0001c0001t0001g0139 others(68): Show |
71 | 256 | 0.2773 | -2 | c.24+ others(17): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35411881 | TTG | T | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02717.hp1 others(2): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0002a0003c0003t0004a0004c0004t0001 | a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 others(2): Show |
5 | 256 | 0.0195 | -2 | c.24+ others(13): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35412617 | CAA | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0004 | a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0246 others(10): Show |
13 | 256 | 0.0508 | -2 | c.-65 others(11): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 645 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35414469 | CAT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(94): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 others(94): Show |
97 | 256 | 0.3789 | -2 | c.-25 others(13): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2497 | chr20 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33693282 | CCT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01069.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0007 a0001c0001t0004g0018 a0001c0001t0004g0037 others(13): Show |
30 | 402 | 0.0746 | -2 | c.*43 others(13): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 3481 | chr6 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33698929 | TAA | T | intron_variant | MODIFIER | HG01255.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0036 a0001c0001t0012g0103 |
3 | 402 | 0.0075 | -2 | c.284 others(19): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
UQCC3_chr11_62666673_62678686 | 62672504 | ATT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0002g0001 a0001c0001t0016g0001 a0001c0001t0017g0001 others(2): Show |
84 | 328 | 0.2561 | -2 | c.*41 others(11): Show |
UQCC3 | ENSG00000204922.5 | transcript | ENST00000377953.4 | protein_coding | 2/2 | 411 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
UQCC3_chr11_62666673_62678686 | 62677316 | AAG | A | downstream_gene_variant | MODIFIER | HG01934.hp2 HG01952.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 328 | 0.0152 | -2 | c.*52 others(13): Show |
UQCC3 | ENSG00000204922.5 | transcript | ENST00000377953.4 | protein_coding | 3631 | chr11 | TogoVar | |||||||
UQCC5_chr3_52531605_52546890 | 52534527 | ACT | A | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18747.hp2 NA18942.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0014 |
7 | 388 | 0.0180 | -2 | c.-22 others(13): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 2077 | chr3 | TogoVar | |||||||
UQCC5_chr3_52531605_52546890 | 52539638 | ATT | A | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0009 a0001c0001t0002g0024 a0001c0001t0005g0006 |
12 | 388 | 0.0309 | -2 | c.152 others(17): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
UQCC5_chr3_52531605_52546890 | 52541445 | CAT | C | 3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 6 | 388 | 0.0155 | -2 | c.*96 others(11): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 2/2 | 961 | chr3 | TogoVar | ||||||
UQCC6_chr12_103945194_103962215 | 103945913 | GTC | G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(47): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0011 | a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0031 others(2): Show |
50 | 462 | 0.1082 | -2 | c.*56 others(13): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4280 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103946008 | CAT | C | downstream_gene_variant | MODIFIER | NA18946.hp2 NA18960.hp1 NA18981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0015 |
7 | 462 | 0.0152 | -2 | c.*55 others(13): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4185 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103947974 | ATT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(222): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 others(35): Show |
225 | 462 | 0.4870 | -2 | c.*35 others(13): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2219 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103959801 | CTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(76): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0015 others(12): Show |
79 | 462 | 0.1710 | -2 | c.-27 others(13): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2587 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103961252 | ATG | A | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01516.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 462 | 0.0065 | -2 | c.-41 others(13): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4038 | chr12 | TogoVar | |||||||
UQCR10_chr22_29762369_29775413 | 29772244 | CAA | C | downstream_gene_variant | MODIFIER | HG02965.hp2 NA18522.hp1 NA18945.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0007 others(1): Show |
6 | 414 | 0.0145 | -2 | c.*25 others(13): Show |
UQCR10 | ENSG00000184076.13 | transcript | ENST00000330029.6 | protein_coding | 1832 | chr22 | TogoVar | |||||||
UQCR10_chr22_29762369_29775413 | 29773120 | CAA | C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01069.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(3): Show |
32 | 414 | 0.0773 | -2 | c.*34 others(13): Show |
UQCR10 | ENSG00000184076.13 | transcript | ENST00000330029.6 | protein_coding | 2708 | chr22 | TogoVar | |||||||
UQCR10_chr22_29762369_29775413 | 29774108 | GAA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01167.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(4): Show |
23 | 414 | 0.0556 | -2 | c.*43 others(13): Show |
UQCR10 | ENSG00000184076.13 | transcript | ENST00000330029.6 | protein_coding | 3696 | chr22 | TogoVar | |||||||
UQCR11_chr19_1592169_1610462 | 1605502 | CGG | C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01123.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(8): Show |
32 | 364 | 0.0879 | -2 | c.-95 others(9): Show |
UQCR11 | ENSG00000127540.12 | transcript | ENST00000591899.8 | protein_coding | 41 | chr19 | TogoVar | |||||||
UQCRB_chr8_96217947_96240545 | 96222794 | TCA | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0039 a0001c0001t0003g0003 others(13): Show |
43 | 384 | 0.1120 | -2 | c.*82 others(13): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 152 | chr8 | TogoVar | |||||||
UQCRB_chr8_96217947_96240545 | 96223065 | TAC | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00642.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0003g0003 a0001c0001t0003g0007 a0001c0001t0003g0019 others(29): Show |
100 | 384 | 0.2604 | -2 | c.*79 others(13): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 4/4 | 7988 | chr8 | TogoVar | ||||||
UQCRB_chr8_96217947_96240545 | 96229905 | ACT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0006others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0015others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0026 a0001c0001t0002g0029 others(18): Show |
88 | 384 | 0.2292 | -2 | c.*11 others(13): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 4/4 | 1148 | chr8 | TogoVar | ||||||
UQCRB_chr8_96217947_96240545 | 96231867 | AAG | A | frameshift_variant | HIGH | NA19076.hp1 | a0008 | a0008c0008 | a0008c0008t0038 | a0008c0008t0038g0048 | 1 | 384 | 0.0026 | -2 | c.163 others(9): Show |
p.Tyr others(4): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 3/4 | 179/8459 | 163/336 | 55/111 | chr8 | TogoVar | |||
UQCRB_chr8_96217947_96240545 | 96232303 | ATC | A | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0066 | a0001c0001t0026g0028 a0001c0001t0066g0051 |
3 | 384 | 0.0078 | -2 | c.92- others(15): Show |
UQCRB | ENSG00000156467.10 | transcript | ENST00000287022.10 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
UQCRC1_chr3_48594002_48614646 | 48613064 | CTT | C | upstream_gene_variant | MODIFIER | NA18747.hp1 NA18954.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0029 a0001c0001t0001g0030 |
5 | 308 | 0.0162 | -2 | c.-34 others(13): Show |
UQCRC1 | ENSG00000010256.11 | transcript | ENST00000203407.6 | protein_coding | 3419 | chr3 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21951397 | GGT | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01943.hp2 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0032 others(2): Show |
8 | 362 | 0.0221 | -2 | c.-20 others(13): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 1963 | chr16 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21961626 | TTA | T | intron_variant | MODIFIER | HG01934.hp1 HG02258.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0037 others(5): Show |
14 | 362 | 0.0387 | -2 | c.333 others(17): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRC2_chr16_21948361_21988660 | 21980128 | CAG | C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00597.hp1 others(119): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0002c0003t0001a0004c0005t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(74): Show |
122 | 362 | 0.3370 | -2 | c.112 others(19): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRFS1_chr19_29200320_29218151 | 29203626 | ATT | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(111): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 others(25): Show |
114 | 436 | 0.2615 | -2 | c.*39 others(13): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 1693 | chr19 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29204496 | AAG | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01884.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0002g0084 a0001c0001t0005g0008 a0001c0001t0005g0028 others(2): Show |
16 | 436 | 0.0367 | -2 | c.*30 others(13): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 823 | chr19 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29206223 | CAT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(179): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(26): Show |
182 | 436 | 0.4174 | -2 | c.*13 others(13): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 2/2 | 1323 | chr19 | TogoVar | ||||||
UQCRFS1_chr19_29200320_29218151 | 29209120 | GAC | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(102): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0018 others(15): Show |
105 | 436 | 0.2408 | -2 | c.215 others(17): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
UQCRHL_chr1_15802374_15812649 | 15808231 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 55 | 364 | 0.1511 | -2 | c.-58 others(11): Show |
UQCRHL | ENSG00000233954.7 | transcript | ENST00000696689.1 | protein_coding | 583 | chr1 | TogoVar | |||||||
UQCRHL_chr1_15802374_15812649 | 15809308 | TTC | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00621.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 22 | 364 | 0.0604 | -2 | c.-16 others(13): Show |
UQCRHL | ENSG00000233954.7 | transcript | ENST00000696689.1 | protein_coding | 1660 | chr1 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46304387 | ATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(264): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(156): Show |
267 | 434 | 0.6152 | -2 | c.54+ others(15): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UQCRH_chr1_46298698_46321776 | 46315591 | CAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp2 HG01256.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018 a0001c0001t0001g0054 a0001c0001t0001g0055 others(13): Show |
19 | 434 | 0.0438 | -2 | c.244 others(17): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UQCRH_chr1_46298698_46321776 | 46316786 | CTT | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01192.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0025 a0002c0002t0001g0037 others(8): Show |
18 | 434 | 0.0415 | -2 | c.*20 others(11): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 11 | chr1 | TogoVar | |||||||
UQCRQ_chr5_132861642_132873847 | 132871073 | CAA | C | downstream_gene_variant | MODIFIER | HG00423.hp2 NA18963.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 452 | 0.0066 | -2 | c.*34 others(13): Show |
UQCRQ | ENSG00000164405.11 | transcript | ENST00000378670.8 | protein_coding | 2227 | chr5 | TogoVar | |||||||
UQCRQ_chr5_132861642_132873847 | 132871850 | GCT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(155): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(5): Show |
158 | 452 | 0.3496 | -2 | c.*42 others(13): Show |
UQCRQ | ENSG00000164405.11 | transcript | ENST00000378670.8 | protein_coding | 3004 | chr5 | TogoVar | |||||||
UQCRQ_chr5_132861642_132873847 | 132873686 | CCT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG02015.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0010g0003 |
23 | 452 | 0.0509 | -2 | c.*61 others(13): Show |
UQCRQ | ENSG00000164405.11 | transcript | ENST00000378670.8 | protein_coding | 4840 | chr5 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27975170 | CAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(118): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(42): Show |
121 | 428 | 0.2827 | -2 | c.*29 others(13): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 2546 | chr13 | TogoVar |