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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP95_chr9_69815817_69911227 | 69843557 | CCTTCTTC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01167.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0103a0001c0001t0001g0212a0001c0001t0001g0230others(8): Show | 11 | 380 | 0.0290 | -9 | c.153 others(24): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP97D2_chr13_114174257_114228085 | 114223435 | AAGAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0036others(24): Show | 29 | 400 | 0.0725 | -9 | c.*92 others(18): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 351 | chr13 | TogoVar | ||||||
CFAP97_chr4_185154665_185209000 | 185170983 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(98): Show | 133 | 350 | 0.3800 | -9 | c.132 others(28): Show |
CFAP97 | ENSG00000164323.15 | transcript | ENST00000458385.7 | protein_coding | 3/4 | chr4 | TogoVar | ||||||
CFC1_chr2_130587165_130604575 | 130588083 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01081.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(3): Show | 25 | 242 | 0.1033 | -9 | c.*47 others(20): Show |
CFC1 | ENSG00000136698.10 | transcript | ENST00000259216.6 | protein_coding | 4081 | chr2 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75335519 | CCTACTTT others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02109.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(4): Show | 7 | 314 | 0.0223 | -9 | c.651 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75339468 | CTTCAGTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01433.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(8): Show | 11 | 314 | 0.0350 | -9 | c.651 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75352007 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(122): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(122): Show | 125 | 314 | 0.3981 | -9 | c.650 others(28): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75393737 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG01192.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0144a0001c0001t0001g0146a0001c0001t0001g0249others(3): Show | 6 | 314 | 0.0191 | -9 | c.650 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201158849 | CATCATTA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0014a0002c0004t0036a0002c0004t0037others(3): Show | a0001c0002t0014g0092a0002c0004t0036g0169a0002c0004t0037g0177others(3): Show | 6 | 234 | 0.0256 | -9 | c.794 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201158852 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0033a0001c0001t0133 | a0001c0001t0009g0008a0001c0001t0009g0047a0001c0001t0009g0050others(4): Show | 8 | 234 | 0.0342 | -9 | c.794 others(26): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201165241 | CTTATTAT others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00621.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0019a0001c0001t0030a0001c0001t0105others(6): Show | a0001c0001t0019g0001a0001c0001t0019g0192a0001c0001t0019g0193others(11): Show | 15 | 234 | 0.0641 | -9 | c.*13 others(20): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 10/10 | 1307 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
CGNL1_chr15_57371505_57555717 | 57383622 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG01952.hp2 HG02630.hp1 HG02965.hp2 others(7): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0015a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0015t0001others(6): Show | a0001c0001t0002g0100a0001c0001t0004g0029a0001c0015t0001g0022others(7): Show | 10 | 294 | 0.0340 | -9 | c.-16 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57437619 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0059a0001c0001t0001g0065a0001c0001t0001g0071others(62): Show | 66 | 294 | 0.2245 | -9 | c.-15 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHAT_chr10_49609037_49672942 | 49656283 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(138): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0027others(124): Show | 141 | 418 | 0.3373 | -9 | c.183 others(26): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132997659 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0153others(3): Show | 6 | 310 | 0.0194 | -9 | c.252 others(28): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
CHCHD5_chr2_112579609_112594040 | 112580082 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(81): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0002g0002others(2): Show | 84 | 444 | 0.1892 | -9 | c.-45 others(20): Show |
CHCHD5 | ENSG00000125611.16 | transcript | ENST00000324913.10 | protein_coding | 4526 | chr2 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126731098 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 6 | 216 | 0.0278 | -9 | c.266 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCHD6_chr3_126699240_126965420 | 126863938 | TCCACCAT others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099a0001c0001t0001g0100a0001c0001t0001g0101others(5): Show | 8 | 216 | 0.0370 | -9 | c.495 others(28): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCT1_chr17_60417489_60436426 | 60419817 | AATTATTA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01257.hp1 HG01258.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0001a0001c0002t0001g0005a0001c0002t0001g0007others(14): Show | 25 | 322 | 0.0776 | -9 | c.-27 others(20): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2671 | chr17 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98851539 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01358.hp1 others(27): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0003c0009 | a0001c0003t0002a0002c0002t0002a0002c0002t0005others(5): Show | a0001c0003t0002g0049a0002c0002t0002g0072a0002c0002t0002g0074others(27): Show | 30 | 334 | 0.0898 | -9 | c.*48 others(20): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2445 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92961876 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0001g0016a0001c0002t0001g0091a0001c0002t0001g0233others(57): Show | 60 | 306 | 0.1961 | -9 | c.200 others(28): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 93013302 | TCCGGAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0027a0001c0001t0001g0028others(76): Show | 80 | 306 | 0.2614 | -9 | c.469 others(26): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD3_chr17_7883789_7917755 | 7885307 | CCCGCCGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01952.hp1 HG02615.hp2 HG04199.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0002c0002t0001g0160a0002c0002t0001g0161others(1): Show | 4 | 366 | 0.0109 | -9 | c.-36 others(20): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6580229 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00733.hp1 others(30): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0258a0001c0002t0002g0009a0001c0002t0002g0016others(25): Show | 33 | 374 | 0.0882 | -9 | c.490 others(26): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607707 | CACACACA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 HG04199.hp1 NA18999.hp2 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0002a0002c0001t0001 | a0001c0004t0002g0076a0002c0001t0001g0175a0002c0001t0001g0208 | 3 | 374 | 0.0080 | -9 | c.-49 others(18): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 329 | chr12 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0001a0004 | a0001c0002a0001c0005a0004c0010 | a0001c0002t0001a0001c0005t0001a0004c0010t0001 | a0001c0002t0001g0052a0001c0002t0001g0053a0001c0002t0001g0054others(35): Show | 38 | 324 | 0.1173 | -9 | c.612 others(26): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41531831 | GCATTCTT others(2): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG03239.hp1 HG06807.hp2 |
a0004 | a0004c0013a0004c0026 | a0004c0013t0001a0004c0026t0001 | a0004c0013t0001g0001a0004c0013t0001g0002a0004c0026t0001g0003 | 3 | 324 | 0.0093 | -9 | c.554 others(26): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 3/36 | chr20 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21457628 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01070.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0129a0001c0001t0001g0149a0001c0001t0001g0154others(16): Show | 19 | 260 | 0.0731 | -9 | c.-18 others(20): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53108335 | CTACAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01074.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0013others(6): Show | a0001c0001t0001g0021a0001c0001t0001g0071a0001c0001t0001g0072others(36): Show | 39 | 238 | 0.1639 | -9 | c.-16 others(30): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHFR_chr12_132827356_132892605 | 132844157 | CCCAGCAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(52): Show |
a0003 | a0003c0003a0003c0008 | a0003c0003t0001a0003c0003t0013a0003c0003t0019others(12): Show | a0003c0003t0001g0052a0003c0003t0001g0053a0003c0003t0001g0313others(52): Show | 55 | 378 | 0.1455 | -9 | c.173 others(24): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 15/17 | chr12 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132858920 | CCACCCAC others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01433.hp1 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0048a0002c0002t0049 | a0002c0002t0048g0040a0002c0002t0049g0042a0002c0002t0049g0043 | 3 | 378 | 0.0079 | -9 | c.911 others(24): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 8/17 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92920654 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0010a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0010g0001others(1): Show | 21 | 447 | 0.0470 | -9 | c.-27 others(20): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | ||||||
CHI3L1_chr1_203173931_203191704 | 203187301 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02056.hp2 HG03490.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0002c0002t0001g0023 | 15 | 468 | 0.0321 | -9 | c.-68 others(18): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 598 | chr1 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73648254 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02647.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0021a0001c0001t0022 | a0001c0001t0003g0063a0001c0001t0003g0064a0001c0001t0003g0065others(14): Show | 17 | 208 | 0.0817 | -9 | c.508 others(28): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68052679 | AGGAGGAG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG02683.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057a0001c0001t0002g0058a0001c0001t0002g0061 | 3 | 276 | 0.0109 | -9 | c.*13 others(20): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 179 | chr11 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85995260 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0245 | 1 | 245 | 0.0041 | -9 | c.117 others(28): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 86026102 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 | 1 | 245 | 0.0041 | -9 | c.116 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | ||||||
CHN1_chr2_174793809_175010381 | 174910899 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01069.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0096others(9): Show | 12 | 276 | 0.0435 | -9 | c.260 others(26): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29293857 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01167.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0034a0001c0001t0001g0160others(24): Show | 27 | 232 | 0.1164 | -9 | c.50- others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29332581 | CCAGGGTA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0025others(56): Show | 59 | 232 | 0.2543 | -9 | c.50- others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29336759 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01884.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0136a0001c0001t0001g0184a0001c0001t0001g0191others(11): Show | 14 | 232 | 0.0603 | -9 | c.50- others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHN2_chr7_29189775_29519328 | 29426206 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0126a0001c0001t0001g0160a0001c0001t0001g0225others(24): Show | 27 | 232 | 0.1164 | -9 | c.576 others(28): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHODL_chr21_18239833_18272370 | 18260118 | TATAATAT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03225.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0017 | a0001c0001t0005g0296a0001c0001t0009g0267a0001c0001t0009g0286others(1): Show | 4 | 402 | 0.0100 | -9 | c.548 others(22): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
CHP1_chr15_41226268_41286887 | 41259443 | CGACTCTG others(2): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02074.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(1): Show | 4 | 298 | 0.0134 | -9 | c.221 others(26): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 3/6 | chr15 | TogoVar | ||||||
CHPT1_chr12_101692640_101734074 | 101725623 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02056.hp2 others(50): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0011 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0011others(28): Show | 53 | 402 | 0.1318 | -9 | c.106 others(26): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHRFAM7A_chr15_30355566_30398540 | 30376086 | AGTGTGAG others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(71): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0007a0001c0018others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0048others(69): Show | 74 | 133 | 0.5564 | -9 | c.160 others(24): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136885983 | AACATAGA others(2): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03098.hp2 HG03486.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0021a0001c0001t0039a0003c0006t0014 | a0001c0001t0021g0045a0001c0001t0021g0050a0001c0001t0039g0317others(1): Show | 4 | 320 | 0.0125 | -9 | c.-12 others(30): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239505259 | GGATGATG others(2): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG03209.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0019a0001c0001t0057 | a0001c0001t0013g0078a0001c0001t0019g0025a0001c0001t0057g0084 | 3 | 116 | 0.0259 | -9 | c.-42 others(30): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239529627 | AAAAACAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01981.hp2 HG03195.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0001c0001t0014a0001c0001t0015others(3): Show | a0001c0001t0005g0053a0001c0001t0014g0095a0001c0001t0015g0033others(3): Show | 6 | 116 | 0.0517 | -9 | c.-42 others(30): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM5_chr15_33963497_34072458 | 34004316 | CACAATGT others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0037others(1): Show | a0001c0001t0001g0286a0001c0001t0011g0287a0001c0001t0011g0288others(4): Show | 7 | 338 | 0.0207 | -9 | c.-40 others(30): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |