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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP112_chr17_65630537_66197133 | 65970392 | ACATGCAT others(27): Show |
A | intron_variant | MODIFIER | HG02602.hp1 HG02622.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021a0001c0002t0001g0059 | 2 | 112 | 0.0179 | -34 | c.173 others(53): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004892 | TTACATAT others(27): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(42): Show |
a0002a0007a0008others(2): Show | a0002c0003a0007c0007a0008c0010others(2): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0029others(6): Show | a0002c0003t0003g0002a0002c0003t0003g0011a0002c0003t0003g0012others(42): Show | 45 | 336 | 0.1339 | -34 | c.*72 others(45): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3831 | chr11 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 102004895 | CATATATA others(27): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0309 | 1 | 336 | 0.0030 | -34 | c.*72 others(45): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 3834 | chr11 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729056 | GGGGTGTG others(27): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01433.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0046 | 3 | 164 | 0.0183 | -34 | c.280 others(55): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | GGTGTGTG others(27): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0025others(26): Show | 29 | 164 | 0.1768 | -34 | c.280 others(55): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117347160 | TTTATTTG others(27): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0110 | 1 | 390 | 0.0026 | -34 | c.194 others(51): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 4/32 | chr11 | TogoVar | ||||||
CEP350_chr1_179949810_180119875 | 180030280 | CGTATATA others(27): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 248 | 0.0040 | -34 | c.355 others(52): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94442178 | CATTCACA others(27): Show |
C | intron_variant | MODIFIER | HG03654.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0169 | 2 | 364 | 0.0055 | -34 | c.-15 others(53): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
CERKL_chr2_181531672_181662105 | 181641322 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01496.hp2 others(36): Show |
a0001a0004a0007 | a0001c0002a0001c0014a0004c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0050a0001c0002t0001g0052a0001c0002t0001g0056others(35): Show | 39 | 298 | 0.1309 | -34 | c.238 others(53): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168746775 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0170 | 1 | 176 | 0.0057 | -34 | c.846 others(53): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81146831 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0067a0001c0001t0001g0164a0001c0001t0001g0220others(2): Show | 6 | 448 | 0.0134 | -34 | c.637 others(50): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CFAP221_chr2_119539449_119661661 | 119582828 | GTCATAGG others(27): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG03225.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0156a0002c0002t0003g0155a0002c0002t0003g0159 | 3 | 226 | 0.0133 | -34 | c.528 others(51): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFAP251_chr12_121913592_122008919 | 121928636 | ACGTATAT others(27): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02809.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0348a0003c0003t0001g0349a0003c0003t0001g0350others(1): Show | 4 | 354 | 0.0113 | -34 | c.748 others(51): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 3/21 | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121998432 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 354 | 0.0028 | -34 | c.300 others(53): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP298_chr21_32594354_32617377 | 32601006 | TGGCTACA others(27): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0040 | a0001c0002t0022g0216a0001c0002t0022g0218a0001c0002t0040g0217 | 3 | 416 | 0.0072 | -34 | c.*82 others(43): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 7/7 | 823 | chr21 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96704452 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp1 |
a0007a0028 | a0007c0028a0028c0079 | a0007c0028t0001a0028c0079t0001 | a0007c0028t0001g0181a0028c0079t0001g0184 | 2 | 268 | 0.0075 | -34 | c.647 others(51): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 46/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP54_chr12_96484577_96880555 | 96806159 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03239.hp1 |
a0001a0019 | a0001c0078a0019c0023 | a0001c0078t0001a0019c0023t0001 | a0001c0078t0001g0075a0019c0023t0001g0039 | 2 | 268 | 0.0075 | -34 | c.885 others(53): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 63/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104357876 | TGTACACA others(27): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG02615.hp1 HG02622.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(10): Show | 13 | 308 | 0.0422 | -34 | c.10- others(47): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
CFAP58_chr10_104348833_104460102 | 104396369 | TGAGAGAG others(27): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01099.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0001 | a0001c0001t0001g0117a0001c0001t0001g0182a0001c0001t0001g0183others(9): Show | 12 | 308 | 0.0390 | -34 | c.167 others(53): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP58_chr10_104348833_104460102 | 104396406 | GAGAGAGA others(27): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 308 | 0.0033 | -34 | c.167 others(53): Show |
CFAP58 | ENSG00000120051.15 | transcript | ENST00000369704.8 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1934619 | TTGTAGGT others(27): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(145): Show |
a0001a0002a0008others(30): Show | a0001c0001a0001c0006a0001c0020others(49): Show | a0001c0001t0001a0001c0006t0001a0001c0020t0001others(50): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0022others(145): Show | 148 | 278 | 0.5324 | -34 | c.301 others(53): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 25/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486008 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 322 | 0.0031 | -34 | c.196 others(53): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132486032 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | HG02083.hp1 NA19003.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0097a0002c0003t0001g0205 | 2 | 322 | 0.0062 | -34 | c.196 others(53): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999700 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 356 | 0.0028 | -34 | c.114 others(53): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999712 | TATATATA others(27): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 356 | 0.0028 | -34 | c.114 others(53): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714470 | TGATTTCC others(27): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 308 | 0.0033 | -34 | c.151 others(51): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFI_chr4_109735695_109806999 | 109751070 | CACAGACC others(27): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178a0001c0002t0001g0179a0001c0002t0001g0180others(1): Show | 4 | 354 | 0.0113 | -34 | c.940 others(51): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114024 | ATATATAT others(27): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0031a0001c0002t0121 | a0001c0002t0013g0021a0001c0002t0013g0022a0001c0002t0031g0002others(2): Show | 5 | 234 | 0.0214 | -34 | c.-25 others(45): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2139 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114026 | ATATATAT others(27): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0002 | 1 | 234 | 0.0043 | -34 | c.-25 others(45): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2137 | chr2 | TogoVar | ||||||
CGB5_chr19_49038848_49050311 | 49041614 | CACCCAGG others(27): Show |
C | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -34 | c.-25 others(45): Show |
CGB5 | ENSG00000189052.7 | transcript | ENST00000301408.7 | protein_coding | 2233 | chr19 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126865067 | TTCCACCA others(27): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(1): Show | 4 | 216 | 0.0185 | -34 | c.495 others(53): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98903438 | TTTCGTAC others(27): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0084a0001c0001t0001g0090a0001c0001t0001g0091others(11): Show | 14 | 334 | 0.0419 | -34 | c.372 others(49): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73655462 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp1 HG00741.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0030a0001c0001t0001g0116a0001c0001t0001g0117others(11): Show | 14 | 208 | 0.0673 | -34 | c.508 others(53): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73655494 | GTATATAT others(27): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 208 | 0.0048 | -34 | c.508 others(53): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHID1_chr11_862859_915810 | 881441 | CACGTCGG others(27): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(179): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(146): Show | 182 | 386 | 0.4715 | -34 | c.959 others(51): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | ||||||
CHRDL1_chrX_110668856_110800817 | 110669052 | TTATATAT others(27): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0169a0001c0002t0004g0012 | 2 | 172 | 0.0116 | -34 | c.*71 others(45): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4803 | chrX | TogoVar | ||||||
CHRM2_chr7_136863652_137025213 | 136972718 | CTGGCAGG others(27): Show |
C | intron_variant | MODIFIER | HG01952.hp1 HG02273.hp2 HG04228.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0014a0001c0001t0001g0032a0001c0001t0001g0034others(5): Show | 8 | 320 | 0.0250 | -34 | c.-12 others(55): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 136972729 | TGATGGTG others(27): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00621.hp2 others(145): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(145): Show | 148 | 320 | 0.4625 | -34 | c.-12 others(55): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 136973069 | CGATGGTG others(27): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0003 | 1 | 320 | 0.0031 | -34 | c.-12 others(55): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 136973328 | TGGTGACG others(27): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0117 | 1 | 320 | 0.0031 | -34 | c.-12 others(55): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRM2_chr7_136863652_137025213 | 137003473 | TACACACA others(27): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0087 | 1 | 320 | 0.0031 | -34 | c.-47 others(53): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHRNB4_chr15_78619111_78646210 | 78632211 | TTCTCTTT others(27): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA18980.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0170a0002c0002t0001g0172 | 2 | 416 | 0.0048 | -34 | c.205 others(49): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 2/5 | chr15 | TogoVar | ||||||
CHST1_chr11_45642689_45670622 | 45643371 | AAACCCTG others(27): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0061 | 1 | 386 | 0.0026 | -34 | c.*62 others(45): Show |
CHST1 | ENSG00000175264.8 | transcript | ENST00000308064.7 | protein_coding | 4317 | chr11 | TogoVar | ||||||
CHTF18_chr16_783620_803074 | 798216 | GTGGGGCC others(27): Show |
G | downstream_gene_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG06807.hp1 others(2): Show |
a0003 | a0003c0017a0003c0067 | a0003c0017t0001a0003c0067t0001 | a0003c0017t0001g0009a0003c0067t0001g0009 | 5 | 428 | 0.0117 | -34 | c.*24 others(43): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 143 | chr16 | TogoVar | ||||||
CLCA2_chr1_86419171_86461553 | 86458050 | AAAATTTG others(27): Show |
A | downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 414 | 0.0024 | -34 | c.*25 others(45): Show |
CLCA2 | ENSG00000137975.8 | transcript | ENST00000370565.5 | protein_coding | 1498 | chr1 | TogoVar | ||||||
CLEC2L_chr7_139518685_139549985 | 139520491 | GGCAGCCA others(27): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 308 | 0.0033 | -34 | c.-34 others(45): Show |
CLEC2L | ENSG00000236279.7 | transcript | ENST00000422142.7 | protein_coding | 3193 | chr7 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 46006067 | AATATATA others(27): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0334 | 1 | 340 | 0.0029 | -34 | c.63+ others(49): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122387558 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0032 | 1 | 234 | 0.0043 | -34 | c.-10 others(53): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLIP1_chr12_122266469_122427669 | 122387560 | ATATATAT others(27): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0031 | 1 | 234 | 0.0043 | -34 | c.-10 others(53): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123118971 | TTCTTTCT others(27): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0180 | 1 | 254 | 0.0039 | -34 | c.29- others(51): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar |