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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2724): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0065 | 1 | 170 | 0.0059 | 2731 | c.101 others(2750): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721200 | A | ACCCCCTC others(2724): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 170 | 0.0059 | 2731 | c.642 others(2748): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2724): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191a0001c0001t0002g0194 | 2 | 368 | 0.0054 | 2731 | c.353 others(2748): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LRIG1_chr3_66373797_66506022 | 66374012 | T | TTCCTGTA others(2724): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0012 | a0003c0012t0014 | a0003c0012t0014g0233 | 1 | 264 | 0.0038 | 2731 | c.*62 others(2742): Show |
LRIG1 | ENSG00000144749.14 | transcript | ENST00000273261.8 | protein_coding | 4784 | chr3 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2124357 | G | GGTTAGGT others(2724): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 286 | 0.0035 | 2731 | c.335 others(2750): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2724): Show |
intron_variant | MODIFIER | HG00558.hp2 HG03041.hp1 |
a0002a0014 | a0002c0002a0014c0026 | a0002c0002t0001a0014c0026t0001 | a0002c0002t0001g0288a0014c0026t0001g0313 | 2 | 362 | 0.0055 | 2731 | c.192 others(2750): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC25A26_chr3_66216001_66383923 | 66374012 | T | TTCCTGTA others(2724): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0277 | 1 | 298 | 0.0034 | 2731 | c.707 others(2748): Show |
SLC25A26 | ENSG00000144741.19 | transcript | ENST00000354883.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2725): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 342 | 0.0029 | 2732 | c.573 others(2749): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2725): Show |
downstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 345 | 0.0029 | 2732 | c.*17 others(2743): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DIPK1A_chr1_92837167_92966462 | 92896358 | A | ACAACTAT others(2725): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 200 | 0.0050 | 2732 | c.55- others(2749): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2725): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 421 | 0.0024 | 2732 | c.*22 others(2743): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355534 | A | AGGAGGAA others(2725): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0010 | a0010c0006 | a0010c0006t0001 | a0010c0006t0001g0047 | 1 | 82 | 0.0122 | 2732 | c.757 others(2747): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(2725): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 308 | 0.0033 | 2732 | c.157 others(2747): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2725): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 96 | 0.0104 | 2732 | c.-16 others(2753): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2725): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0020 | a0020c0053 | a0020c0053t0001 | a0020c0053t0001g0063 | 1 | 186 | 0.0054 | 2732 | c.723 others(2749): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364375 | A | ACGCTTAC others(2725): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 290 | 0.0035 | 2732 | c.129 others(2751): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2725): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 56 | 0.0179 | 2732 | c.135 others(2749): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2725): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 56 | 0.0179 | 2732 | c.135 others(2749): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2725): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03239.hp1 HG03688.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0022a0001c0002t0001g0023a0001c0002t0001g0028others(3): Show | 6 | 56 | 0.1071 | 2732 | c.135 others(2749): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2725): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0006 | a0006c0009 | a0006c0009t0007 | a0006c0009t0007g0027 | 1 | 56 | 0.0179 | 2732 | c.135 others(2749): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2725): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01978.hp1 NA18970.hp1 |
a0001a0004a0005 | a0001c0002a0004c0010a0005c0011 | a0001c0002t0001a0004c0010t0001a0005c0011t0001 | a0001c0002t0001g0047a0004c0010t0001g0051a0005c0011t0001g0048 | 3 | 56 | 0.0536 | 2732 | c.135 others(2749): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2725): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0188 | 1 | 292 | 0.0034 | 2732 | c.218 others(2747): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2725): Show |
intron_variant | MODIFIER | HG01081.hp2 NA18977.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0236a0003c0003t0003g0218 | 2 | 362 | 0.0055 | 2732 | c.192 others(2751): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(2725): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0251 | 1 | 373 | 0.0027 | 2732 | c.115 others(2749): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2726): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 342 | 0.0029 | 2733 | c.573 others(2750): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2726): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 66 | 0.0152 | 2733 | c.56- others(2746): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
COX14_chr12_50107236_50125453 | 50121638 | T | TCAGATTA others(2726): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0204 | 1 | 418 | 0.0024 | 2733 | c.*14 others(2744): Show |
COX14 | ENSG00000178449.9 | transcript | ENST00000550487.6 | protein_coding | 1186 | chr12 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68035687 | T | TCCCTCTT others(2726): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 234 | 0.0043 | 2733 | c.-18 others(2750): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2726): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0146 | 1 | 170 | 0.0059 | 2733 | c.642 others(2750): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(2726): Show |
intron_variant | MODIFIER | NA19065.hp1 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0280a0002c0002t0001g0281 | 2 | 328 | 0.0061 | 2733 | c.635 others(2752): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2726): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 346 | 0.0029 | 2733 | c.-17 others(2744): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2726): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 314 | 0.0032 | 2733 | c.-25 others(2750): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LRIG1_chr3_66373797_66506022 | 66374012 | T | TTCCTGTA others(2726): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0012 | a0003c0012t0014 | a0003c0012t0014g0236 | 1 | 264 | 0.0038 | 2733 | c.*62 others(2744): Show |
LRIG1 | ENSG00000144749.14 | transcript | ENST00000273261.8 | protein_coding | 4784 | chr3 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2726): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0020 | a0004c0020t0003 | a0004c0020t0003g0006 | 1 | 282 | 0.0036 | 2733 | c.299 others(2748): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SLC25A26_chr3_66216001_66383923 | 66374012 | T | TTCCTGTA others(2726): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 |
a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0216a0001c0005t0008g0278 | 2 | 298 | 0.0067 | 2733 | c.707 others(2750): Show |
SLC25A26 | ENSG00000144741.19 | transcript | ENST00000354883.11 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151629211 | T | TTGTACTA others(2726): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0080 | a0001c0001t0012g0102a0001c0001t0080g0108 | 2 | 366 | 0.0055 | 2733 | c.312 others(2750): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151629211 | T | TTGTACTA others(2726): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0054 | a0001c0001t0012g0106a0001c0001t0054g0105 | 2 | 366 | 0.0055 | 2733 | c.312 others(2750): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2727): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0315 | 2 | 342 | 0.0059 | 2734 | c.573 others(2751): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1002984 | T | TGGAGTCC others(2727): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 326 | 0.0031 | 2734 | c.324 others(2751): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
DUS2_chr16_68018284_68084320 | 68035687 | T | TCCCTCTT others(2727): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 234 | 0.0043 | 2734 | c.-18 others(2751): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MRPL22_chr5_154936073_154974411 | 154958481 | A | ACATTCTT others(2727): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 358 | 0.0028 | 2734 | c.339 others(2751): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2727): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 362 | 0.0028 | 2734 | c.192 others(2753): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | ||||||
SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(2727): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 158 | 0.0063 | 2734 | c.284 others(2753): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
SNX27_chr1_151607050_151704080 | 151629211 | T | TTGTACTA others(2727): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0110 | 1 | 366 | 0.0027 | 2734 | c.312 others(2751): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151629211 | T | TTGTACTA others(2727): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0113 | a0001c0001t0012g0104a0001c0001t0012g0109a0001c0001t0113g0103 | 3 | 366 | 0.0082 | 2734 | c.312 others(2751): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SNX27_chr1_151607050_151704080 | 151629211 | T | TTGTACTA others(2727): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0107 | 1 | 366 | 0.0027 | 2734 | c.312 others(2751): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2727): Show |
intron_variant | MODIFIER | HG02083.hp2 HG03704.hp2 |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0045 | a0002c0003t0002g0365a0002c0003t0045g0300 | 2 | 386 | 0.0052 | 2734 | c.138 others(2753): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2727): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0288 | 1 | 386 | 0.0026 | 2734 | c.138 others(2753): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AHRR_chr5_316714_443285 | 344402 | G | GAGCTTGT others(2728): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0009 | a0009c0022 | a0009c0022t0001 | a0009c0022t0001g0023 | 1 | 268 | 0.0037 | 2735 | c.62+ others(2748): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | chr5 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2728): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 342 | 0.0029 | 2735 | c.573 others(2752): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar |