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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RABL6_chr9_136802948_136846187 | 136803282 | T | TGGGGGCC others(732): Show |
upstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 120 | 0.0083 | 739 | c.-49 others(750): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4665 | chr9 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 355862 | A | AACAGTCG others(732): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 74 | 0.0135 | 739 | c.-33 others(750): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3056 | chr17 | TogoVar | |||||||
SLC37A1_chr21_42508852_42586426 | 42570073 | A | ATGTCATG others(732): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0005 | a0003c0005t0016 | a0003c0005t0016g0199 | 1 | 326 | 0.0031 | 739 | c.142 others(758): Show |
SLC37A1 | ENSG00000160190.14 | transcript | ENST00000352133.3 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246071871 | G | GCTGTGCT others(732): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0142 | 1 | 102 | 0.0098 | 739 | c.532 others(760): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 965203 | C | CTTGGACC others(732): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0074 | 1 | 60 | 0.0167 | 739 | c.72+ others(756): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221558 | C | CCTCTCTG others(732): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 149 | 0.0067 | 739 | c.719 others(758): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46169756 | A | AACATCCT others(732): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0017 others(46): Show |
70 | 230 | 0.3043 | 739 | c.194 others(756): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46169826 | C | CTCTGTGA others(732): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 250 | 0.0040 | 739 | c.194 others(756): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(732): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 80 | 0.0125 | 739 | c.*64 others(750): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161678 | G | GGACCCCT others(732): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 282 | 0.0035 | 739 | c.*25 others(750): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2250 | chr11 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 139755504 | A | AAGGACAG others(732): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01069.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0002t0003a0001c0003t0020others(3): Show | a0001c0001t0004g0064 a0001c0001t0004g0078 a0001c0002t0003g0007 others(7): Show |
10 | 76 | 0.1316 | 739 | c.305 others(760): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 139755504 | A | AAGGACAG others(732): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0011 | 1 | 67 | 0.0149 | 739 | c.305 others(760): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 139755504 | A | AAGGACAG others(732): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0021 | 1 | 67 | 0.0149 | 739 | c.305 others(760): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 21/22 | chr8 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238871097 | C | CACACACA others(732): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 270 | 0.0037 | 739 | c.*35 others(758): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292490 | A | AACTCTAG others(732): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 402 | 0.0025 | 739 | c.339 others(756): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292540 | G | GAGTGGAG others(732): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 | 1 | 332 | 0.0030 | 739 | c.339 others(756): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46293489 | C | CGTGCCCG others(732): Show |
intron_variant | MODIFIER | NA19079.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 a0001c0001t0002g0342 |
2 | 396 | 0.0051 | 739 | c.339 others(756): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(732): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0083 a0002c0003t0004g0185 |
2 | 73 | 0.0274 | 739 | c.205 others(758): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | |||||||
ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(732): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0258 | 1 | 183 | 0.0055 | 739 | c.-42 others(750): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | |||||||
ZZEF1_chr17_3999445_4148030 | 4018987 | G | GTTTTTTT others(732): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp1 others(13): Show |
a0004a0007 | a0004c0005a0004c0061a0007c0006 | a0004c0005t0006a0004c0005t0020a0004c0061t0005others(1): Show | a0004c0005t0006g0007 a0004c0005t0006g0008 a0004c0005t0006g0009 others(13): Show |
16 | 281 | 0.0569 | 739 | c.750 others(756): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 46/54 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(733): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 272 | 0.0037 | 740 | c.61+ others(755): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(733): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0016 | a0016c0046 | a0016c0046t0005 | a0016c0046t0005g0004 | 1 | 82 | 0.0122 | 740 | c.106 others(759): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(733): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0079 | a0001c0001t0016g0099 a0001c0001t0079g0424 |
2 | 159 | 0.0126 | 740 | c.564 others(755): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132759517 | A | ATATGATA others(733): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 319 | 0.0031 | 740 | c.181 others(757): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932324 | A | ATAGACTA others(733): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 139 | 0.0072 | 740 | c.23- others(755): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251478 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 238 | 0.0042 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0102 | 1 | 5 | 0.2000 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0100 | 1 | 5 | 0.2000 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0098 | 1 | 5 | 0.2000 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 5 | 0.2000 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 5 | 0.2000 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(733): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0133 | 1 | 5 | 0.2000 | 740 | c.927 others(757): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687357 | C | CGAGCACT others(733): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 121 | 0.0083 | 740 | c.-17 others(751): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1512 | chr8 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410971 | C | CCTGCTGG others(733): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 283 | 0.0035 | 740 | c.-20 others(751): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1825 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411092 | A | ACGGATCC others(733): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 221 | 0.0045 | 740 | c.-21 others(751): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1946 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411129 | C | CCGGATCC others(733): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0001 a0001c0001t0021g0022 |
2 | 219 | 0.0091 | 740 | c.-21 others(751): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1983 | chr19 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(733): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 350 | 0.0029 | 740 | c.666 others(755): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGCCCC others(733): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | 740 | c.666 others(755): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888375 | T | TCACCCCT others(733): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0048 | a0048c0069 | a0048c0069t0002 | a0048c0069t0002g0015 | 1 | 228 | 0.0044 | 740 | c.330 others(759): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(733): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0095 | 1 | 11 | 0.0909 | 740 | c.-26 others(749): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(733): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 11 | 0.0909 | 740 | c.-26 others(749): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGGAGGG others(733): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 | 1 | 11 | 0.0909 | 740 | c.-26 others(749): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23455006 | T | TCCCCCCC others(733): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG04199.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0087 a0001c0001t0002g0088 |
3 | 262 | 0.0115 | 740 | c.-20 others(751): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1818 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23455013 | C | CAAAAAAA others(733): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0126 | 1 | 148 | 0.0068 | 740 | c.-20 others(751): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1825 | chr16 | TogoVar | |||||||
COG7_chr16_23383493_23458189 | 23455013 | C | CAAAAAAA others(733): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 148 | 0.0068 | 740 | c.-20 others(751): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 1825 | chr16 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932549 | A | AGAATGAG others(733): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0105 | 1 | 112 | 0.0089 | 740 | c.198 others(757): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135004 | T | TCCGAGTG others(733): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 226 | 0.0044 | 740 | c.*42 others(751): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1589 | chr12 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 665147 | G | GTCCTGGC others(733): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02132.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0091 |
3 | 218 | 0.0138 | 740 | c.150 others(759): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 10/11 | chr11 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315947 | C | CCCCCTAC others(733): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 244 | 0.0041 | 740 | c.259 others(759): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(733): Show |
intron_variant | MODIFIER | HG02145.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0246 |
2 | 26 | 0.0769 | 740 | c.259 others(759): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar |