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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A6_chr3_130512177_130682042 | 130590299 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0025 | a0025c0073 | a0025c0073t0028 | a0025c0073t0028g0218 | 1 | 264 | 0.0038 | -18 | c.421 others(35): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130634938 | AAAAGTAT others(11): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0173 | 1 | 264 | 0.0038 | -18 | c.502 others(35): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119069625 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG01943.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0197a0001c0001t0005g0198 | 2 | 388 | 0.0052 | -18 | c.148 others(35): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119078990 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01106.hp2 HG01167.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0263a0001c0001t0001g0264others(23): Show | 27 | 388 | 0.0696 | -18 | c.149 others(37): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119091593 | GAGAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0366 | 1 | 388 | 0.0026 | -18 | c.292 others(33): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3592262 | AGACGGGG others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02922.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0308a0002c0002t0001g0309a0002c0002t0001g0310 | 3 | 378 | 0.0079 | -18 | c.-29 others(29): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2849 | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3612218 | ACACGCAC others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0319a0001c0001t0001g0323a0002c0002t0001g0191 | 3 | 378 | 0.0079 | -18 | c.131 others(35): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 486280 | GGTTCAAG others(11): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01884.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0002c0001others(4): Show | a0001c0003t0009a0001c0004t0059a0001c0004t0097others(9): Show | a0001c0003t0009g0157a0001c0004t0059g0155a0001c0004t0097g0080others(9): Show | 12 | 366 | 0.0328 | -18 | c.8-5 others(31): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116108402 | GGCTGCAG others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(218): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0068others(215): Show | 221 | 350 | 0.6314 | -18 | c.399 others(37): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD10_chr5_116080025_116298287 | 116160466 | GTGATTGA others(11): Show |
G | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 350 | 0.0029 | -18 | c.510 others(37): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116215695 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01243.hp1 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(25): Show | 28 | 350 | 0.0800 | -18 | c.511 others(37): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62063868 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0126 | 1 | 286 | 0.0035 | -18 | c.462 others(37): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD3_chr10_22311388_22325306 | 22321452 | AGGAGGAG others(11): Show |
A | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0033 | -18 | c.*14 others(29): Show |
COMMD3 | ENSG00000148444.16 | transcript | ENST00000376836.8 | protein_coding | 1147 | chr10 | TogoVar | ||||||
COMMD6_chr13_75520214_75542841 | 75524456 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 | 1 | 396 | 0.0025 | -18 | c.*21 others(29): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 757 | chr13 | TogoVar | ||||||
COMMD8_chr4_47445787_47468702 | 47456262 | TTATACAT others(11): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 396 | 0.0025 | -18 | c.375 others(33): Show |
COMMD8 | ENSG00000169019.11 | transcript | ENST00000381571.6 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36286408 | AAAAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0011a0001c0001t0004g0041a0001c0001t0004g0042others(14): Show | 22 | 448 | 0.0491 | -18 | c.51+ others(33): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMP_chr19_18777773_18796305 | 18787872 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(141): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0012others(26): Show | 144 | 398 | 0.3618 | -18 | c.976 others(33): Show |
COMP | ENSG00000105664.11 | transcript | ENST00000222271.7 | protein_coding | 9/18 | chr19 | TogoVar | ||||||
COP1_chr1_175939831_176212286 | 176165361 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0268 | 1 | 300 | 0.0033 | -18 | c.566 others(35): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
COPA_chr1_160283594_160348250 | 160318474 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0034a0001c0001t0007g0031a0001c0001t0007g0032others(2): Show | 5 | 366 | 0.0137 | -18 | c.707 others(35): Show |
COPA | ENSG00000122218.17 | transcript | ENST00000241704.8 | protein_coding | 8/32 | chr1 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902707 | AAAGGAAG others(11): Show |
A | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 330 | 0.0030 | -18 | c.735 others(33): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130513341 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0166 | 1 | 326 | 0.0031 | -18 | c.215 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130588167 | GAGAAATA others(11): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0250 | 1 | 326 | 0.0031 | -18 | c.737 others(37): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | ||||||
COPS2_chr15_49117727_49160599 | 49119203 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0189 | 1 | 398 | 0.0025 | -18 | c.*87 others(29): Show |
COPS2 | ENSG00000166200.15 | transcript | ENST00000388901.10 | protein_coding | 3523 | chr15 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67041968 | TACACACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0088a0001c0001t0001g0109a0001c0002t0001g0012others(3): Show | 7 | 292 | 0.0240 | -18 | c.*12 others(29): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 1110 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056650 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp1 HG01981.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0041a0001c0001t0001g0222others(4): Show | 9 | 292 | 0.0308 | -18 | c.574 others(31): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056652 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0064a0001c0001t0001g0065others(5): Show | 10 | 292 | 0.0343 | -18 | c.574 others(31): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPS5_chr8_67038079_67067133 | 67056694 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp1 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0251a0001c0002t0002g0255 | 2 | 292 | 0.0069 | -18 | c.574 others(32): Show |
COPS5 | ENSG00000121022.14 | transcript | ENST00000357849.9 | protein_coding | 4/7 | chr8 | TogoVar | ||||||
COPZ1_chr12_54320131_54356846 | 54326961 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG03492.hp2 NA18906.hp2 NA18956.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071a0001c0001t0001g0279a0001c0001t0002g0171others(1): Show | 4 | 368 | 0.0109 | -18 | c.18+ others(33): Show |
COPZ1 | ENSG00000111481.10 | transcript | ENST00000262061.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COQ10B_chr2_197448552_197480310 | 197463986 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 390 | 0.0026 | -18 | c.447 others(35): Show |
COQ10B | ENSG00000115520.9 | transcript | ENST00000263960.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COQ3_chr6_99364401_99399195 | 99378105 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 NA18951.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0269a0001c0001t0002g0312others(6): Show | 9 | 434 | 0.0207 | -18 | c.387 others(33): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99378143 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01069.hp1 others(11): Show |
a0002a0006 | a0002c0002a0006c0008 | a0002c0002t0001a0002c0002t0002a0006c0008t0002 | a0002c0002t0001g0082a0002c0002t0001g0091a0002c0002t0001g0110others(10): Show | 14 | 434 | 0.0323 | -18 | c.387 others(33): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99378145 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 434 | 0.0023 | -18 | c.387 others(33): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
COQ3_chr6_99364401_99399195 | 99385988 | AAAAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(91): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(84): Show | 94 | 434 | 0.2166 | -18 | c.107 others(35): Show |
COQ3 | ENSG00000132423.12 | transcript | ENST00000254759.8 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
COQ8A_chr1_226935294_226992544 | 226944732 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG01928.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0003 | a0001c0001t0001g0016a0001c0001t0001g0072a0001c0001t0001g0216others(12): Show | 16 | 412 | 0.0388 | -18 | c.-10 others(35): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COQ8A_chr1_226935294_226992544 | 226992006 | GGGAGGGT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0012others(339): Show | 374 | 412 | 0.9078 | -18 | c.*52 others(29): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 4463 | chr1 | TogoVar | ||||||
CORO1A_chr16_30178602_30194076 | 30183185 | CCGCGCCC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 342 | 0.0029 | -18 | c.-54 others(27): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 416 | chr16 | TogoVar | ||||||
CORO1C_chr12_108640109_108736518 | 108700107 | TCCATTGT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG02083.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0003a0001c0001t0001g0135a0001c0001t0001g0136others(18): Show | 21 | 326 | 0.0644 | -18 | c.195 others(34): Show |
CORO1C | ENSG00000110880.11 | transcript | ENST00000261401.8 | protein_coding | 2/10 | chr12 | TogoVar | ||||||
CORO2B_chr15_68573993_68732806 | 68587047 | TATACACA others(11): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0253a0001c0001t0014g0254 | 2 | 256 | 0.0078 | -18 | c.15+ others(33): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CORO2B_chr15_68573993_68732806 | 68650355 | CTAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0252 | 1 | 256 | 0.0039 | -18 | c.216 others(35): Show |
CORO2B | ENSG00000103647.13 | transcript | ENST00000261861.10 | protein_coding | 2/11 | chr15 | TogoVar | ||||||
COX10_chr17_14064504_14213677 | 14165914 | GCCTAATC others(11): Show |
G | intron_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0231 | 1 | 322 | 0.0031 | -18 | c.695 others(35): Show |
COX10 | ENSG00000006695.12 | transcript | ENST00000261643.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
COX14_chr12_50107236_50125453 | 50114770 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 418 | 0.0024 | -18 | c.-9+ others(33): Show |
COX14 | ENSG00000178449.9 | transcript | ENST00000550487.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
COX15_chr10_99705868_99737127 | 99727792 | CTCCCCAA others(11): Show |
C | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 422 | 0.0024 | -18 | c.273 others(33): Show |
COX15 | ENSG00000014919.13 | transcript | ENST00000016171.6 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
COX17_chr3_119664532_119682406 | 119667714 | CACACACA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0109 | 2 | 420 | 0.0048 | -18 | c.*19 others(29): Show |
COX17 | ENSG00000138495.7 | transcript | ENST00000261070.7 | protein_coding | 1817 | chr3 | TogoVar | ||||||
COX18_chr4_73047362_73074716 | 73067954 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0061 | 2 | 384 | 0.0052 | -18 | c.434 others(31): Show |
COX18 | ENSG00000163626.17 | transcript | ENST00000507544.3 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
COX7A2L_chr2_42344338_42366217 | 42363841 | GAACTGAG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 406 | 0.0025 | -18 | c.-26 others(29): Show |
COX7A2L | ENSG00000115944.15 | transcript | ENST00000234301.3 | protein_coding | 2625 | chr2 | TogoVar | ||||||
COX8C_chr14_93342182_93353356 | 93345779 | AAGAACCA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01081.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0002g0003others(3): Show | 40 | 427 | 0.0937 | -18 | c.-14 others(29): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 1402 | chr14 | TogoVar | ||||||
CPA3_chr3_148860296_148902203 | 148891495 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 400 | 0.0025 | -18 | c.106 others(37): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CPA3_chr3_148860296_148902203 | 148899547 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0065 | 6 | 400 | 0.0150 | -18 | c.*28 others(29): Show |
CPA3 | ENSG00000163751.4 | transcript | ENST00000296046.4 | protein_coding | 2345 | chr3 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67447021 | CACATATA others(11): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01891.hp1 HG02109.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0009others(20): Show | 23 | 144 | 0.1597 | -18 | c.839 others(37): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 8/10 | chr8 | TogoVar | ||||||
CPA6_chr8_67417038_67751360 | 67607148 | CCCCTCCT others(11): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02922.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0022a0001c0001t0001g0075 | 3 | 144 | 0.0208 | -18 | c.192 others(37): Show |
CPA6 | ENSG00000165078.13 | transcript | ENST00000297770.10 | protein_coding | 2/10 | chr8 | TogoVar |