view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COMMD1_chr2_61900674_62141058 | 62012264 | CACACAT | C | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101a0001c0001t0002g0225a0001c0001t0002g0227others(1): Show | 4 | 286 | 0.0140 | -6 | c.462 others(25): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62012270 | TACACAC | T | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0263others(3): Show | 6 | 286 | 0.0210 | -6 | c.462 others(25): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62014542 | CTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG02055.hp2 HG02615.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026a0001c0001t0001g0032a0001c0001t0001g0033others(9): Show | 12 | 286 | 0.0420 | -6 | c.462 others(25): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62115854 | TTCTTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG01255.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0095a0001c0001t0001g0232others(9): Show | 12 | 286 | 0.0420 | -6 | c.463 others(25): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD6_chr13_75520214_75542841 | 75528001 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0039a0001c0001t0002g0126a0001c0001t0003g0004others(19): Show | 43 | 396 | 0.1086 | -6 | c.208 others(23): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 3/3 | chr13 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32717321 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(100): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(93): Show | 103 | 400 | 0.2575 | -6 | c.241 others(25): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 3/8 | chr20 | TogoVar | |||||||
COMMD7_chr20_32697699_32748467 | 32728447 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(167): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(151): Show | 170 | 400 | 0.4250 | -6 | c.85- others(19): Show |
COMMD7 | ENSG00000149600.12 | transcript | ENST00000278980.11 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
COMMD8_chr4_47445787_47468702 | 47456267 | CATATAT | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01169.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0050a0001c0001t0001g0129others(4): Show | 16 | 396 | 0.0404 | -6 | c.375 others(21): Show |
COMMD8 | ENSG00000169019.11 | transcript | ENST00000381571.6 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36273484 | ATTTATT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00621.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011a0001c0001t0004g0020a0001c0001t0004g0021others(22): Show | 34 | 448 | 0.0759 | -6 | c.*11 others(17): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 6/6 | 1142 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36284104 | TCAACAA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0061a0001c0001t0001g0139a0001c0001t0001g0285others(4): Show | 8 | 448 | 0.0179 | -6 | c.52- others(21): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36286412 | AAGAAAG | A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0159a0001c0001t0006g0131a0001c0001t0006g0135others(3): Show | 6 | 448 | 0.0134 | -6 | c.51+ others(21): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMP_chr19_18777773_18796305 | 18786763 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01167.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0002 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0073others(4): Show | 10 | 398 | 0.0251 | -6 | c.113 others(23): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 10/18 | chr19 | TogoVar | |||||||
COMP_chr19_18777773_18796305 | 18787872 | TTCTTTC | T | intron_variant | MODIFIER | HG01081.hp2 HG02965.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0161 | 3 | 398 | 0.0075 | -6 | c.976 others(21): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 9/18 | chr19 | TogoVar | |||||||
COMT_chr22_19936772_19974975 | 19948954 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00621.hp2 others(88): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0002others(28): Show | a0001c0002t0001g0230a0001c0002t0001g0258a0001c0002t0001g0274others(83): Show | 91 | 426 | 0.2136 | -6 | c.-92 others(23): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 175966280 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0050a0001c0002t0001g0032others(2): Show | 5 | 300 | 0.0167 | -6 | c.213 others(27): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176019463 | AAATAAT | A | intron_variant | MODIFIER | HG00609.hp1 HG01070.hp2 HG01169.hp2 others(23): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0055a0001c0001t0001g0063a0001c0001t0001g0064others(23): Show | 26 | 300 | 0.0867 | -6 | c.172 others(25): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 15/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176026345 | TAATAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01167.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0138others(5): Show | 8 | 300 | 0.0267 | -6 | c.172 others(25): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 15/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176119641 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0283a0001c0001t0003g0284a0001c0001t0003g0287others(4): Show | 7 | 300 | 0.0233 | -6 | c.969 others(23): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 8/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176145389 | AATGCCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(207): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(207): Show | 210 | 300 | 0.7000 | -6 | c.831 others(23): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 6/19 | chr1 | TogoVar | |||||||
COP1_chr1_175939831_176212286 | 176165361 | CGTGTGT | C | intron_variant | MODIFIER | HG01496.hp2 HG01928.hp2 HG01934.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0008 | a0001c0001t0003g0282a0001c0001t0003g0290a0001c0001t0003g0291others(5): Show | 8 | 300 | 0.0267 | -6 | c.566 others(23): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | |||||||
COPA_chr1_160283594_160348250 | 160339149 | CATCTCA | C | intron_variant | MODIFIER | HG00438.hp1 NA18940.hp1 NA18942.hp2 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0190a0002c0003t0006g0191a0002c0003t0006g0192others(7): Show | 10 | 366 | 0.0273 | -6 | c.228 others(21): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 3/32 | chr1 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14465062 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0017others(92): Show | 101 | 386 | 0.2617 | -6 | c.229 others(21): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 17/21 | chr11 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14470899 | TACACAC | T | intron_variant | MODIFIER | HG00673.hp1 NA19006.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0150a0001c0001t0002g0030a0001c0001t0002g0079 | 3 | 386 | 0.0078 | -6 | c.173 others(25): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14470940 | ACACACT | A | intron_variant | MODIFIER | HG02027.hp2 HG02965.hp2 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0238a0001c0001t0001g0275a0001c0001t0001g0278others(2): Show | 5 | 386 | 0.0130 | -6 | c.173 others(25): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 14/21 | chr11 | TogoVar | |||||||
COPB1_chr11_14452512_14504811 | 14483228 | CCACACA | C | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG00741.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0186a0001c0001t0001g0245others(1): Show | 5 | 386 | 0.0130 | -6 | c.838 others(19): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 7/21 | chr11 | TogoVar | |||||||
COPB2_chr3_139352406_139394647 | 139380003 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp1 others(40): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0029others(21): Show | 43 | 264 | 0.1629 | -6 | c.142 others(21): Show |
COPB2 | ENSG00000184432.11 | transcript | ENST00000333188.10 | protein_coding | 2/21 | chr3 | TogoVar | |||||||
COPG1_chr3_129244606_129282773 | 129275971 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00639.hp2 others(53): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0003others(4): Show | a0001c0002t0001g0067a0001c0002t0001g0070a0001c0002t0001g0080others(30): Show | 56 | 326 | 0.1718 | -6 | c.249 others(23): Show |
COPG1 | ENSG00000181789.14 | transcript | ENST00000314797.10 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130501994 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00544.hp2 others(97): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0200others(97): Show | 100 | 326 | 0.3068 | -6 | c.*46 others(17): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 4243 | chr7 | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130651494 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(57): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0030a0001c0001t0001g0140a0001c0001t0001g0141others(57): Show | 60 | 326 | 0.1841 | -6 | c.323 others(23): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 5/23 | chr7 | TogoVar | |||||||
COPS2_chr15_49117727_49160599 | 49119203 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0126a0001c0001t0001g0133a0001c0001t0001g0134others(43): Show | 82 | 398 | 0.2060 | -6 | c.*87 others(17): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 3523 | chr15 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67041954 | TATACAC | T | downstream_gene_variant | MODIFIER | NA18957.hp1 NA18957.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0168a0001c0002t0001g0026a0001c0002t0001g0195 | 4 | 292 | 0.0137 | -6 | c.*12 others(17): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1124 | chr8 | TogoVar | |||||||
COPS5_chr8_67038079_67067133 | 67041968 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG01070.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0028others(25): Show | 31 | 292 | 0.1062 | -6 | c.*12 others(17): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1110 | chr8 | TogoVar | |||||||
COPS7A_chr12_6719046_6736865 | 6736577 | TCAAAAA | T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0003 | a0001c0001t0008g0043a0001c0002t0003g0016a0001c0002t0003g0026others(3): Show | 11 | 474 | 0.0232 | -6 | c.*55 others(17): Show |
COPS7A | ENSG00000111652.10 | transcript | ENST00000543155.6 | protein_coding | 4713 | chr12 | TogoVar | |||||||
COPS7B_chr2_231781445_231814253 | 231808798 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0024a0001c0001t0016g0025a0001c0001t0016g0026others(2): Show | 7 | 348 | 0.0201 | -6 | c.*11 others(17): Show |
COPS7B | ENSG00000144524.18 | transcript | ENST00000350033.8 | protein_coding | 7/7 | 1192 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COPS8_chr2_237080889_237105474 | 237100795 | GTGTATA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01168.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007a0001c0001t0002g0005a0001c0001t0002g0036others(10): Show | 34 | 348 | 0.0977 | -6 | c.*30 others(17): Show |
COPS8 | ENSG00000198612.11 | transcript | ENST00000354371.7 | protein_coding | 322 | chr2 | TogoVar | |||||||
COPZ1_chr12_54320131_54356846 | 54326640 | GGTGTGT | G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(62): Show | 69 | 368 | 0.1875 | -6 | c.18+ others(21): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54337019 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(81): Show | 88 | 368 | 0.2391 | -6 | c.19- others(21): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54339980 | CGTGTGT | C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02647.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0229a0001c0001t0001g0237a0001c0001t0001g0269others(13): Show | 16 | 368 | 0.0435 | -6 | c.19- others(19): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197461559 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(191): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(160): Show | 194 | 390 | 0.4974 | -6 | c.255 others(21): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197461627 | CAGAGAG | C | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0122a0001c0001t0001g0147a0001c0001t0001g0209others(12): Show | 15 | 390 | 0.0385 | -6 | c.255 others(21): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197463996 | TACACAC | T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(2): Show | 5 | 390 | 0.0128 | -6 | c.447 others(23): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197468867 | AAAAAAT | A | intron_variant | MODIFIER | HG00558.hp2 HG02083.hp2 HG02523.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0026others(17): Show | 25 | 390 | 0.0641 | -6 | c.448 others(23): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197473447 | TATATAC | T | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0023others(18): Show | 27 | 390 | 0.0692 | -6 | c.550 others(21): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COQ10B_chr2_197448552_197480310 | 197479536 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0327a0001c0001t0001g0328a0001c0001t0001g0329others(8): Show | 11 | 390 | 0.0282 | -6 | c.*56 others(17): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 4227 | chr2 | TogoVar | |||||||
COQ2_chr4_83258824_83289798 | 83277971 | AAAACAC | A | intron_variant | MODIFIER | HG02071.hp1 HG02165.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0143 | 3 | 344 | 0.0087 | -6 | c.420 others(21): Show |
COQ2 | ENSG00000173085.15 | transcript | ENST00000647002.2 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
COQ2_chr4_83258824_83289798 | 83277973 | AACACAC | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01346.hp1 others(31): Show |
a0001a0002a0006 | a0001c0001a0001c0006a0001c0007others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0033a0001c0001t0001g0034others(25): Show | 34 | 344 | 0.0988 | -6 | c.420 others(21): Show |
COQ2 | ENSG00000173085.15 | transcript | ENST00000647002.2 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
COQ3_chr6_99364401_99399195 | 99378157 | TTTAGAG | T | intron_variant | MODIFIER | HG01261.hp1 HG01975.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0086a0001c0001t0001g0101others(6): Show | 10 | 434 | 0.0230 | -6 | c.387 others(21): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
COQ3_chr6_99364401_99399195 | 99388891 | GCACACA | G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00673.hp2 others(58): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(44): Show | 61 | 434 | 0.1406 | -6 | c.107 others(23): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
COQ5_chr12_120498279_120534158 | 120532964 | CTCTGTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(73): Show | 92 | 388 | 0.2371 | -6 | c.-38 others(17): Show |
COQ5 | ENSG00000110871.15 | transcript | ENST00000288532.11 | protein_coding | 3807 | chr12 | TogoVar | |||||||
COQ9_chr16_57442479_57466270 | 57459890 | TCATTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(284): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(86): Show | 287 | 404 | 0.7104 | -6 | c.868 others(21): Show |
COQ9 | ENSG00000088682.14 | transcript | ENST00000262507.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |