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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(921): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0051 | 1 | 334 | 0.0030 | 928 | c.-25 others(939): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(921): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0101 | 1 | 334 | 0.0030 | 928 | c.-25 others(939): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(921): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 448 | 0.0022 | 928 | c.51+ others(943): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(921): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086a0001c0001t0002g0134 | 2 | 448 | 0.0045 | 928 | c.51+ others(943): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0097 | 1 | 378 | 0.0027 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0098 | 1 | 378 | 0.0027 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18986.hp1 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0002a0003c0005t0002 | a0001c0003t0002g0100a0003c0005t0002g0099 | 2 | 378 | 0.0053 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101 | 1 | 378 | 0.0027 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(68): Show |
a0001a0012a0015 | a0001c0001a0001c0035a0012c0033others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0035t0002others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0016others(67): Show | 71 | 378 | 0.1878 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00597.hp1 others(34): Show |
a0001a0003a0014 | a0001c0001a0003c0005a0003c0009others(2): Show | a0001c0001t0002a0003c0005t0002a0003c0009t0002others(2): Show | a0001c0001t0002g0131a0001c0001t0002g0132a0003c0005t0002g0005others(34): Show | 37 | 378 | 0.0979 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79685009 | G | GGTGCAGG others(921): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 378 | 0.0027 | 928 | c.314 others(945): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(921): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03209.hp2 |
a0001 | a0001c0014a0001c0015 | a0001c0014t0001a0001c0015t0032 | a0001c0014t0001g0018a0001c0015t0032g0019 | 2 | 148 | 0.0135 | 928 | c.113 others(947): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(921): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02486.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0013others(7): Show | a0001c0002t0001g0017a0001c0002t0003g0001a0001c0002t0003g0058others(9): Show | 12 | 148 | 0.0811 | 928 | c.113 others(947): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(921): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0010 | 1 | 148 | 0.0068 | 928 | c.113 others(947): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14635300 | A | AGGGAGCT others(921): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0016 | 1 | 148 | 0.0068 | 928 | c.113 others(947): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 13/25 | chr7 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3315770 | T | TACCACCA others(921): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 250 | 0.0040 | 928 | c.259 others(947): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240184928 | A | ACTTTCTC others(921): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0022 | a0022c0093 | a0022c0093t0006 | a0022c0093t0006g0138 | 1 | 174 | 0.0058 | 928 | c.193 others(947): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586258 | G | GGGGGAAA others(921): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0306 | 1 | 308 | 0.0033 | 928 | c.157 others(943): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(921): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 308 | 0.0033 | 928 | c.157 others(945): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113824415 | C | CGCGCGGT others(921): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 143 | 0.0070 | 928 | c.147 others(945): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(921): Show |
intron_variant | MODIFIER | NA21309.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0255a0001c0004t0002g0019 | 2 | 314 | 0.0064 | 928 | c.310 others(943): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GRIK4_chr11_120506748_120993906 | 120876376 | T | TCACCACC others(921): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 128 | 0.0078 | 928 | c.116 others(947): Show |
GRIK4 | ENSG00000149403.13 | transcript | ENST00000527524.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(921): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072a0001c0001t0001g0073 | 2 | 204 | 0.0098 | 928 | c.117 others(947): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132160367 | G | GGGGGCGC others(921): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 158 | 0.0063 | 928 | c.222 others(947): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(921): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 114 | 0.0088 | 928 | c.56- others(945): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(921): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02809.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0034 | a0001c0003t0001g0106a0001c0003t0034g0041 | 2 | 114 | 0.0175 | 928 | c.56- others(945): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KRTAP4-6_chr17_41134433_41145544 | 41144157 | T | TTTTTCTT others(921): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0000 | 1 | 438 | 0.0023 | 928 | c.-36 others(939): Show |
KRTAP4-6 | ENSG00000198090.4 | transcript | ENST00000345847.5 | protein_coding | 3614 | chr17 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(921): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 284 | 0.0035 | 928 | c.126 others(945): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(921): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0233 | 1 | 284 | 0.0035 | 928 | c.126 others(945): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LMLN_chr3_197955217_198048720 | 198005129 | A | ACATCTAT others(921): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0019 | 1 | 258 | 0.0039 | 928 | c.131 others(947): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAD1L1_chr7_1810795_2237945 | 1930327 | A | ACTGCCAC others(921): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 264 | 0.0038 | 928 | c.180 others(947): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(921): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 326 | 0.0031 | 928 | c.433 others(945): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841475 | A | AGCAGGTC others(921): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 242 | 0.0041 | 928 | c.361 others(947): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318049 | C | CCCTCCCC others(921): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 360 | 0.0028 | 928 | c.*35 others(939): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3076 | chr5 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGA others(921): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0038 | 1 | 295 | 0.0034 | 928 | c.126 others(947): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492455 | T | TCCCGGGA others(921): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0129 | 1 | 295 | 0.0034 | 928 | c.126 others(947): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(921): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0322a0001c0007t0001g0323 | 2 | 378 | 0.0053 | 928 | c.937 others(945): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SLC1A2_chr11_35246205_35424558 | 35248735 | C | CTAGCAGT others(921): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0286 | 1 | 306 | 0.0033 | 928 | c.*12 others(941): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2469 | chr11 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18975.hp1 NA18977.hp1 others(5): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0001a0001c0004t0001g0264a0001c0004t0001g0272 | 8 | 420 | 0.0191 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | NA18953.hp1 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 | 2 | 420 | 0.0048 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02735.hp2 NA18984.hp1 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0001 | a0001c0004t0001g0268a0001c0004t0001g0299a0001c0011t0001g0291 | 3 | 420 | 0.0071 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0003 | a0002c0003t0030 | a0002c0003t0030g0394 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18974.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0334a0002c0003t0002g0335 | 2 | 420 | 0.0048 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0261 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0281a0001c0004t0001g0290 | 2 | 420 | 0.0048 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0381 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(921): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCTATC others(921): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0276 | 1 | 420 | 0.0024 | 928 | c.107 others(945): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar |