view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 277 | 0.0036 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1036): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 277 | 0.0036 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670515 | C | CCCGTGCA others(1036): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 385 | 0.0026 | 1043 | c.129 others(1060): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169203 | T | TCCTCCCT others(1036): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0035 | 1 | 83 | 0.0120 | 1043 | c.*82 others(1052): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 740 | chrX | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1036): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0019 | 1 | 119 | 0.0084 | 1043 | c.*51 others(1054): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TAAATATA others(1037): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0039 | a0001c0039t0008 | a0001c0039t0008g0298 | 1 | 153 | 0.0065 | 1044 | c.130 others(1063): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1037): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 12 | 0.0833 | 1044 | c.387 others(1063): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1037): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 12 | 0.0833 | 1044 | c.387 others(1063): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(1037): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0067 | a0001c0067t0004 | a0001c0067t0004g0074 | 1 | 12 | 0.0833 | 1044 | c.387 others(1063): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ANXA2_chr15_60342151_60402986 | 60349979 | G | GGAAGGCA others(1037): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 329 | 0.0030 | 1044 | c.838 others(1059): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 29063023 | G | GAGTTGAT others(1037): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0014 | a0002c0014t0035 | a0002c0014t0035g0191 | 1 | 202 | 0.0050 | 1044 | c.951 others(1061): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1037): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 3 | 0.3333 | 1044 | c.787 others(1059): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGEF18_chr19_7343937_7477478 | 7450664 | A | ATTTCCGA others(1037): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0207 | 1 | 84 | 0.0119 | 1044 | c.173 others(1061): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1037): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 8 | 0.1250 | 1044 | c.285 others(1063): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406082 | T | TGTGTCAC others(1037): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0150 | 1 | 209 | 0.0048 | 1044 | c.*27 others(1055): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 405 | chr2 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1037): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 219 | 0.0046 | 1044 | c.327 others(1061): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(1037): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 261 | 0.0038 | 1044 | c.-22 others(1061): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1037): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0003 | a0002c0003t0079 | a0002c0003t0079g0289 | 1 | 66 | 0.0152 | 1044 | c.-25 others(1055): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650785 | T | TGTGACTG others(1037): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0027 | 1 | 79 | 0.0127 | 1044 | c.177 others(1063): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1037): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 176 | 0.0057 | 1044 | c.162 others(1063): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | NA18967.hp2 NA18973.hp1 NA19078.hp1 others(2): Show |
a0001a0012 | a0001c0002a0012c0017 | a0001c0002t0001a0012c0017t0001 | a0001c0002t0001g0028 a0001c0002t0001g0127 a0012c0017t0001g0145 |
5 | 294 | 0.0170 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 290 | 0.0034 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02129.hp1 NA18951.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0034 a0001c0002t0001g0055 others(1): Show |
13 | 302 | 0.0430 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050064 | T | TCACGACA others(1037): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18994.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 2 | 291 | 0.0069 | 1044 | c.103 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050200 | G | GTCCCTAC others(1037): Show |
intron_variant | MODIFIER | HG03831.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0110 |
2 | 255 | 0.0078 | 1044 | c.102 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
ENTPD2_chr9_137043107_137059061 | 137050200 | G | GTCCCTAC others(1037): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 254 | 0.0039 | 1044 | c.102 others(1059): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1037): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18957.hp2 |
a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0009 | 2 | 144 | 0.0139 | 1044 | c.488 others(1059): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 316126 | G | GACACACA others(1037): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0104 | 1 | 64 | 0.0156 | 1044 | c.487 others(1059): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1037): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 132 | 0.0076 | 1044 | c.94- others(1057): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1037): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 174 | 0.0057 | 1044 | c.-25 others(1061): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152671 | T | TCTCCTTC others(1037): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 259 | 0.0039 | 1044 | c.804 others(1061): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(1037): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0064 | 1 | 103 | 0.0097 | 1044 | c.103 others(1061): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406082 | T | TGTGTCAC others(1037): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0122 | 1 | 273 | 0.0037 | 1044 | c.*75 others(1053): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 751 | chr2 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(1037): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0265 | 1 | 207 | 0.0048 | 1044 | c.126 others(1061): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916118 | T | TATATACA others(1037): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0055 | 1 | 103 | 0.0097 | 1044 | c.648 others(1063): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(1037): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0010 | a0010c0018 | a0010c0018t0026 | a0010c0018t0026g0029 | 1 | 6 | 0.1667 | 1044 | c.100 others(1063): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351506 | C | CTCCTCTC others(1037): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0126 |
2 | 308 | 0.0065 | 1044 | c.-49 others(1055): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4802 | chr11 | TogoVar | |||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1037): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 HG04115.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0008 | a0001c0003t0002g0206 a0001c0003t0008g0207 |
2 | 126 | 0.0159 | 1044 | c.-49 others(1055): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(1037): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0121 | 1 | 8 | 0.1250 | 1044 | c.115 others(1061): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17876998 | G | GAGGGAGG others(1037): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 132 | 0.0076 | 1044 | c.224 others(1063): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877211 | G | GGTTAGGG others(1037): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0165 | 1 | 259 | 0.0039 | 1044 | c.224 others(1063): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(1037): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19081.hp2 |
a0001 | a0001c0003a0001c0078 | a0001c0003t0001a0001c0078t0001 | a0001c0003t0001g0049 a0001c0078t0001g0053 |
2 | 131 | 0.0153 | 1044 | c.148 others(1063): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 NA18971.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0027 others(1): Show |
6 | 293 | 0.0205 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 288 | 0.0035 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02129.hp2 NA18951.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0002g0002 others(6): Show |
13 | 300 | 0.0433 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050064 | T | TCACGACA others(1037): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 288 | 0.0035 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3888 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050087 | C | CGCCTGTC others(1037): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 399 | 0.0025 | 1044 | c.-40 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 3911 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(1037): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 2 | 252 | 0.0079 | 1044 | c.-42 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NPDC1_chr9_137034463_137051177 | 137050200 | G | GTCCCTAC others(1037): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 251 | 0.0040 | 1044 | c.-42 others(1055): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4024 | chr9 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1037): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0163 | 1 | 30 | 0.0333 | 1044 | c.433 others(1061): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar |