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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(976): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 174 | 0.0058 | 983 | c.41- others(1000): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(976): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0079 | 1 | 174 | 0.0058 | 983 | c.41- others(1000): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870330 | A | ACCCCACA others(976): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 338 | 0.0030 | 983 | c.*35 others(1002): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(976): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0089 | 1 | 202 | 0.0050 | 983 | c.*53 others(994): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAGATAAA others(977): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0115 | 1 | 306 | 0.0033 | 984 | c.130 others(1003): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(977): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0002a0003c0008t0025 | a0001c0001t0002g0027a0003c0008t0025g0028 | 2 | 182 | 0.0110 | 984 | c.505 others(1003): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(977): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0140 | 1 | 218 | 0.0046 | 984 | c.108 others(1001): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp1 HG01358.hp2 others(2): Show |
a0001 | a0001c0004a0001c0036 | a0001c0004t0006a0001c0004t0066a0001c0004t0068others(1): Show | a0001c0004t0006g0240a0001c0004t0006g0248a0001c0004t0066g0243others(2): Show | 5 | 318 | 0.0157 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0017 | a0001c0017t0017 | a0001c0017t0017g0221 | 1 | 318 | 0.0031 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01975.hp2 HG02145.hp2 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0032others(1): Show | a0001c0002t0013a0001c0002t0069a0001c0004t0006others(3): Show | a0001c0002t0013g0210a0001c0002t0069g0265a0001c0004t0006g0296others(10): Show | 13 | 318 | 0.0409 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0290 | 1 | 318 | 0.0031 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0312 | 1 | 318 | 0.0031 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0116a0001c0001t0015g0117 | 2 | 318 | 0.0063 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0037 | a0001c0037t0003 | a0001c0037t0003g0115 | 1 | 318 | 0.0031 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01081.hp2 others(23): Show |
a0001a0003a0004 | a0001c0002a0001c0017a0003c0013others(1): Show | a0001c0002t0003a0001c0002t0028a0001c0017t0003others(2): Show | a0001c0002t0003g0044a0001c0002t0003g0098a0001c0002t0003g0100others(23): Show | 26 | 318 | 0.0818 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0099 | 1 | 318 | 0.0031 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(977): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0111 | 1 | 318 | 0.0031 | 984 | c.225 others(1001): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144669258 | A | ACACTTTG others(977): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0193 | 1 | 246 | 0.0041 | 984 | c.-82 others(1003): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(977): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0243 | 1 | 363 | 0.0028 | 984 | c.680 others(1001): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(977): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0269 | 1 | 363 | 0.0028 | 984 | c.680 others(1001): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(977): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 334 | 0.0030 | 984 | c.147 others(1001): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG02486.hp2 HG04228.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0003c0003t0007 | a0001c0001t0005g0016a0003c0003t0007g0041 | 2 | 226 | 0.0089 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0003 | a0003c0003t0039 | a0003c0003t0039g0035 | 1 | 226 | 0.0044 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0044 | 1 | 226 | 0.0044 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 226 | 0.0044 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0039 | 1 | 226 | 0.0044 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140192 | T | TGGAGGGG others(977): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 226 | 0.0044 | 984 | c.217 others(1003): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(977): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 391 | 0.0026 | 984 | c.*36 others(995): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(977): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271a0001c0001t0001g0293a0001c0001t0001g0294others(3): Show | 6 | 326 | 0.0184 | 984 | c.327 others(1001): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(977): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 104 | 0.0096 | 984 | c.139 others(1005): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1C_chr12_2047987_2702950 | 2539706 | T | TTTCATAA others(977): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 104 | 0.0096 | 984 | c.139 others(1005): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(977): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 320 | 0.0031 | 984 | c.380 others(1001): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(977): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0016 | a0001c0016t0007 | a0001c0016t0007g0159 | 1 | 372 | 0.0027 | 984 | c.180 others(1003): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(977): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0017 | a0002c0017t0003 | a0002c0017t0003g0126 | 1 | 372 | 0.0027 | 984 | c.180 others(1003): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(977): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03017.hp1 HG03688.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0060a0001c0001t0001g0288others(1): Show | 8 | 448 | 0.0179 | 984 | c.51+ others(999): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287152 | T | TACAATGT others(977): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 | 1 | 448 | 0.0022 | 984 | c.51+ others(999): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(977): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0075 | 1 | 167 | 0.0060 | 984 | c.646 others(999): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958279 | T | TCACCACT others(977): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0011 | 1 | 230 | 0.0044 | 984 | c.724 others(1003): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DMRT1_chr9_836697_974090 | 902041 | C | CTGGGATT others(977): Show |
intron_variant | MODIFIER | HG03139.hp1 NA19043.hp1 |
a0001a0003 | a0001c0006a0003c0008 | a0001c0006t0001a0003c0008t0001 | a0001c0006t0001g0204a0003c0008t0001g0295 | 2 | 306 | 0.0065 | 984 | c.822 others(1001): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0086 | 1 | 290 | 0.0035 | 984 | c.162 others(1003): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(977): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01516.hp2 HG01517.hp1 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0041others(1): Show | a0001c0001t0002g0195a0001c0001t0002g0198a0001c0001t0002g0221others(24): Show | 27 | 290 | 0.0931 | 984 | c.162 others(1003): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202969 | C | CGCCCGGC others(977): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0193 | 1 | 290 | 0.0035 | 984 | c.162 others(1003): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02896.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0013a0002c0002t0001g0014others(2): Show | 5 | 244 | 0.0205 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp2 others(30): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005a0002c0002t0008others(2): Show | a0002c0002t0001g0109a0002c0002t0001g0110a0002c0002t0001g0112others(30): Show | 33 | 244 | 0.1353 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02886.hp2 others(14): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0010others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(14): Show | 17 | 244 | 0.0697 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0006a0001c0007t0009g0007 | 2 | 244 | 0.0082 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 244 | 0.0041 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01069.hp1 others(53): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0001g0144a0001c0001t0001g0177a0001c0001t0001g0178others(53): Show | 56 | 244 | 0.2295 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
ELL_chr19_18437663_18527070 | 18442449 | A | ACACACCC others(977): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 244 | 0.0041 | 984 | c.*23 others(995): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 213 | chr19 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328603 | T | TACACGGG others(977): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030a0002c0002t0001g0031 | 2 | 82 | 0.0244 | 984 | c.199 others(1003): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar |