| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AFF2_chrX_148495617_149005663 | 148581415 | T | TACACGTA others(599): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 63 | 0.0159 | 606 | c.48- others(623): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(599): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 99 | 0.0101 | 606 | c.*67 others(617): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
| ARHGEF3_chr3_56722420_56806949 | 56731592 | C | CCGGGTTT others(599): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 250 | 0.0040 | 606 | c.122 others(623): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
| ARHGEF3_chr3_56722420_56806949 | 56731592 | C | CCGGGTTT others(599): Show |
intron_variant | MODIFIER | NA18953.hp2 NA18967.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 a0001c0002t0002g0253 |
2 | 251 | 0.0080 | 606 | c.122 others(623): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
| ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(599): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02698.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0008a0001c0007t0001a0002c0004t0001 | a0001c0001t0008g0064 a0001c0007t0001g0011 a0002c0004t0001g0004 |
3 | 15 | 0.2000 | 606 | c.204 others(627): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
| ATP13A3_chr3_194397677_194492002 | 194421151 | A | ACTATATA others(599): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0266 | 1 | 296 | 0.0034 | 606 | c.331 others(625): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(599): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 224 | 0.0089 | 606 | c.*36 others(617): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(599): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 606 | c.-70 others(615): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(599): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 606 | c.-70 others(615): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(599): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 11 | 0.3636 | 606 | c.-70 others(615): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGGA others(599): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 8 | 0.1250 | 606 | c.-70 others(615): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
| C2orf80_chr2_208160347_208195030 | 208176907 | G | GTATACAT others(599): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0052 | 1 | 282 | 0.0035 | 606 | c.366 others(623): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
| CACNA1B_chr9_137872782_138129619 | 138126885 | C | CCCCGGCC others(599): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0006 | a0006c0016 | a0006c0016t0007 | a0006c0016t0007g0053 | 1 | 236 | 0.0042 | 606 | c.*48 others(617): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2267 | chr9 | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(599): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0006 | a0006c0003 | a0006c0003t0001 | a0006c0003t0001g0166 | 1 | 194 | 0.0052 | 606 | c.300 others(623): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85818864 | C | CAAGGTTC others(599): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 134 | 0.0075 | 606 | c.238 others(625): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136803080 | G | GGGGGCCC others(599): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 350 | 0.0029 | 606 | c.666 others(621): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(599): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03831.hp1 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show |
4 | 95 | 0.0421 | 606 | c.80- others(621): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(599): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0041 a0001c0001t0008g0042 |
2 | 120 | 0.0167 | 606 | c.181 others(625): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
| COL21A1_chr6_56051590_56252580 | 56098080 | A | AATAAATA others(599): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 119 | 0.0084 | 606 | c.181 others(625): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
| COL5A1_chr9_134636803_134849843 | 134729760 | A | ATGCGGGC others(599): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02258.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0008a0001c0003t0032a0001c0009t0001others(2): Show | a0001c0001t0008g0260 a0001c0003t0032g0006 a0001c0009t0001g0198 others(2): Show |
5 | 184 | 0.0272 | 606 | c.925 others(621): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134729816 | A | ATGCGGGC others(599): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0224 | 1 | 178 | 0.0056 | 606 | c.925 others(621): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CPNE4_chr3_131528569_132040014 | 131978386 | T | TTATATAT others(599): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 29 | 0.0345 | 606 | c.-2+ others(623): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
| DCLK1_chr13_35763652_36136382 | 35958136 | A | AACCATCA others(599): Show |
intron_variant | MODIFIER | NA18977.hp1 NA19004.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0047 a0001c0003t0001g0048 |
2 | 193 | 0.0104 | 606 | c.724 others(625): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DDX51_chr12_132131594_132149319 | 132136233 | T | TCCCGAGT others(599): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 242 | 0.0041 | 606 | c.*30 others(617): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 360 | chr12 | TogoVar | |||||||
| DOCK1_chr10_126900428_127457516 | 126947340 | T | TTGGTGAT others(599): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0134 | 1 | 112 | 0.0089 | 606 | c.47- others(623): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 126947906 | T | TTGGTGGT others(599): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0085 | 1 | 52 | 0.0192 | 606 | c.47- others(623): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(599): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 15 | 0.0667 | 606 | c.316 others(625): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400325 | C | CCATCACC others(599): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0039 | a0039c0090 | a0039c0090t0001 | a0039c0090t0001g0120 | 1 | 246 | 0.0041 | 606 | c.323 others(625): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137716360 | T | TGTGTTGG others(599): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 | 1 | 127 | 0.0079 | 606 | c.86- others(619): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137716448 | T | TTGGTGTC others(599): Show |
intron_variant | MODIFIER | NA18947.hp2 NA19007.hp2 NA19080.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 |
3 | 135 | 0.0222 | 606 | c.86- others(619): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99928029 | G | GTGGTGGT others(599): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0108 | 1 | 205 | 0.0049 | 606 | c.190 others(625): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 60551497 | G | GGGGGAAG others(599): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 46 | 0.0217 | 606 | c.-17 others(625): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
| FLT3_chr13_27998274_28105576 | 27999091 | G | GTATATAA others(599): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 28 | 0.0357 | 606 | c.*49 others(617): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | |||||||
| GABRA5_chr15_26862062_26954208 | 26893414 | T | TTGTGTGT others(599): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01361.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 others(24): Show |
27 | 180 | 0.1500 | 606 | c.497 others(623): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| GABRA5_chr15_26862062_26954208 | 26893414 | T | TTGTGTGT others(599): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 154 | 0.0065 | 606 | c.497 others(623): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(599): Show |
conservative_inframe_insertion | MODERATE | NA18951.hp2 | a0001 | a0001c0053 | a0001c0053t0009 | a0001c0053t0009g0074 | 1 | 92 | 0.0109 | 606 | c.239 others(615): Show |
p.Ala others(619): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | |||
| GTPBP6_chrX_299759_323796 | 322340 | C | CAAAAAAA others(599): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0020 | a0001c0020t0003 | a0001c0020t0003g0103 | 1 | 42 | 0.0238 | 606 | c.-35 others(617): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3545 | chrX | TogoVar | |||||||
| GTPBP6_chrX_299759_323796 | 323687 | T | TGTGTGTG others(599): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0020 | 1 | 149 | 0.0067 | 606 | c.-49 others(617): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4892 | chrX | TogoVar | |||||||
| HPCAL1_chr2_10297904_10432604 | 10399262 | T | TCACCATC others(599): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 231 | 0.0043 | 606 | c.-25 others(623): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCTTC others(599): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 253 | 0.0040 | 606 | c.804 others(623): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(599): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0073 | a0001c0001t0013g0003 a0001c0001t0013g0024 a0001c0001t0013g0026 others(2): Show |
6 | 82 | 0.0732 | 606 | c.968 others(621): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
| KANK1_chr9_499695_751103 | 514126 | C | CCCTCCTT others(599): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0044 | a0002c0044t0015 | a0002c0044t0015g0081 | 1 | 247 | 0.0040 | 606 | c.-84 others(623): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(599): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 5 | 0.2000 | 606 | c.-41 others(621): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(599): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01981.hp1 others(11): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0002a0002c0004t0001 | a0002c0002t0001g0031 a0002c0002t0001g0037 a0002c0002t0001g0086 others(11): Show |
14 | 18 | 0.7778 | 606 | c.-41 others(621): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997234 | G | GGGGTCGG others(599): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0316 | 1 | 362 | 0.0028 | 606 | c.-22 others(617): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 436 | chr6 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 167997259 | G | GGGGGCGG others(599): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 356 | 0.0028 | 606 | c.-22 others(617): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 411 | chr6 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471443 | A | ATATATTT others(599): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | 258 | 0.0194 | 606 | c.125 others(623): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061804 | A | AATATATA others(599): Show |
upstream_gene_variant | MODIFIER | NA18954.hp1 NA18963.hp2 NA18979.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 111 | 0.0360 | 606 | c.-32 others(617): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3129 | chr19 | TogoVar | |||||||
| MEGF6_chr1_3482951_3616508 | 3583762 | A | ACCAGACA others(599): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp1 |
a0009a0031 | a0009c0009a0031c0042 | a0009c0009t0029a0031c0042t0033 | a0009c0009t0029g0270 a0031c0042t0033g0276 |
2 | 84 | 0.0238 | 606 | c.377 others(623): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
| MEX3D_chr19_1549672_1573325 | 1550007 | C | CCCCATCC others(599): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0106 | 1 | 191 | 0.0052 | 606 | c.*55 others(617): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4664 | chr19 | TogoVar |