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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRAMEF5_chr1_13249198_13268435 | 13253975 | T | TGCTTCAT others(2159): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0007 | a0007c0008 | a0007c0008t0011 | a0007c0008t0011g0002 | 1 | 142 | 0.0070 | 2166 | c.-32 others(2175): Show |
PRAMEF5 | ENSG00000270601.5 | transcript | ENST00000622421.3 | protein_coding | 222 | chr1 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2159): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0000 a0001c0001t0005g0000 |
3 | 223 | 0.0135 | 2166 | c.*44 others(2177): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414506 | C | CGCTGGGT others(2159): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0330 | 1 | 361 | 0.0028 | 2166 | c.115 others(2183): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TMEM163_chr2_134450759_134724000 | 134608358 | A | AAGGACAG others(2159): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 81 | 0.0123 | 2166 | c.323 others(2185): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0039 | a0039c0043 | a0039c0043t0002 | a0039c0043t0002g0021 | 1 | 312 | 0.0032 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0057 | a0007c0057t0003 | a0007c0057t0003g0019 | 1 | 312 | 0.0032 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02109.hp2 HG02132.hp2 |
a0007a0035 | a0007c0010a0035c0062 | a0007c0010t0001a0035c0062t0001 | a0007c0010t0001g0049 a0007c0010t0001g0050 a0035c0062t0001g0260 |
3 | 314 | 0.0096 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2160): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0039 | 1 | 312 | 0.0032 | 2167 | c.169 others(2186): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706453 | C | CATAGATA others(2160): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0276 | 1 | 229 | 0.0044 | 2167 | c.228 others(2184): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706453 | C | CATAGATA others(2160): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0042 | 1 | 289 | 0.0035 | 2167 | c.-49 others(2178): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4747 | chr4 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2160): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 249 | 0.0040 | 2167 | c.-11 others(2178): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2160): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0174 | 1 | 249 | 0.0040 | 2167 | c.-11 others(2178): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2160): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG03239.hp2 HG03669.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0039 a0001c0001t0002g0041 others(3): Show |
8 | 256 | 0.0313 | 2167 | c.-11 others(2178): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2160): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0196 | 1 | 51 | 0.0196 | 2167 | c.183 others(2184): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 8 | 0.1250 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0232 | 1 | 8 | 0.1250 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0256 | 1 | 8 | 0.1250 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0273 | 1 | 8 | 0.1250 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG00099.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 a0001c0001t0005g0275 |
2 | 9 | 0.2222 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2160): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 8 | 0.1250 | 2167 | c.-56 others(2186): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137518516 | G | GTCACTCA others(2160): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 179 | 0.0056 | 2167 | c.108 others(2186): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2160): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2167 | c.*44 others(2178): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
ARMC9_chr2_231193631_231381848 | 231324930 | T | TAAAACAA others(2161): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0183 | 1 | 198 | 0.0051 | 2168 | c.177 others(2187): Show |
ARMC9 | ENSG00000135931.19 | transcript | ENST00000611582.5 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0075 | 1 | 312 | 0.0032 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG00609.hp1 NA19081.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0111 a0003c0003t0001g0166 |
2 | 313 | 0.0064 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0172 | 1 | 312 | 0.0032 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0037 | a0037c0060 | a0037c0060t0003 | a0037c0060t0003g0113 | 1 | 312 | 0.0032 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2161): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0173 | 1 | 312 | 0.0032 | 2168 | c.169 others(2187): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(2161): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0007 | a0007c0004 | a0007c0004t0004 | a0007c0004t0004g0020 | 1 | 194 | 0.0052 | 2168 | c.300 others(2185): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36396348 | C | CACGCACG others(2161): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0007 | a0004c0007t0029 | a0004c0007t0029g0057 | 1 | 2 | 0.5000 | 2168 | c.-73 others(2187): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01978.hp1 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0080 a0001c0004t0004g0084 |
2 | 52 | 0.0385 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03491.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0011a0001c0008t0001 | a0001c0001t0011g0076 a0001c0008t0001g0094 |
2 | 52 | 0.0385 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0087 | 1 | 51 | 0.0196 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2161): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0005 | a0005c0015 | a0005c0015t0068 | a0005c0015t0068g0197 | 1 | 51 | 0.0196 | 2168 | c.183 others(2185): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2161): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175 | 1 | 8 | 0.1250 | 2168 | c.-56 others(2187): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976544 | A | AGGGTCCC others(2161): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0053 | a0002c0053t0067 | a0002c0053t0067g0034 | 1 | 94 | 0.0106 | 2168 | c.199 others(2187): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(2161): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 155 | 0.0065 | 2168 | c.-55 others(2179): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2162): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0004 | a0004c0036 | a0004c0036t0001 | a0004c0036t0001g0271 | 1 | 76 | 0.0132 | 2169 | c.955 others(2186): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2162): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02040.hp2 HG02080.hp2 others(9): Show |
a0003a0022a0025 | a0003c0003a0003c0031a0022c0028others(1): Show | a0003c0003t0001a0003c0031t0001a0022c0028t0001others(1): Show | a0003c0003t0001g0010 a0003c0003t0001g0105 a0003c0003t0001g0204 others(8): Show |
12 | 323 | 0.0372 | 2169 | c.169 others(2188): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf167_chr1_11757193_11794585 | 11770151 | T | TTAAATTT others(2162): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0283 | 1 | 312 | 0.0032 | 2169 | c.169 others(2188): Show |
C1orf167 | ENSG00000215910.8 | transcript | ENST00000688073.1 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2162): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 2 | 0.5000 | 2169 | c.-52 others(2190): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323275 | G | GAATATAT others(2162): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 302 | 0.0033 | 2169 | c.-17 others(2180): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1694 | chr21 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2162): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0149 | 1 | 51 | 0.0196 | 2169 | c.183 others(2186): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876874 | G | GGGAGGTT others(2162): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0030 | a0030c0043 | a0030c0043t0001 | a0030c0043t0001g0097 | 1 | 170 | 0.0059 | 2169 | c.224 others(2188): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877540 | T | TGGAGGTT others(2162): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0218 | 1 | 258 | 0.0039 | 2169 | c.224 others(2188): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354205 | G | GTGGTGGT others(2162): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 55 | 0.0182 | 2169 | c.61+ others(2188): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2162): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 8 | 0.1250 | 2169 | c.-56 others(2188): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2162): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0240 | 1 | 8 | 0.1250 | 2169 | c.-56 others(2188): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2162): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0195 | 1 | 8 | 0.1250 | 2169 | c.-56 others(2188): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2162): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0211 | 1 | 8 | 0.1250 | 2169 | c.-56 others(2188): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |