| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG01993.hp2 | a0101 | a0101c0156 | a0101c0156t0001 | a0101c0156t0001g0250 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG03098.hp1 | a0127 | a0127c0211 | a0127c0211t0001 | a0127c0211t0001g0286 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG00621.hp2 HG02040.hp2 HG02523.hp1 |
a0020a0100 | a0020c0023a0100c0157 | a0020c0023t0001a0100c0157t0001 | a0020c0023t0001g0188a0020c0023t0001g0200a0100c0157t0001g0179 | 3 | 342 | 0.0088 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG02293.hp1 | a0051 | a0051c0270 | a0051c0270t0001 | a0051c0270t0001g0220 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | NA18967.hp1 | a0111 | a0111c0160 | a0111c0160t0001 | a0111c0160t0001g0177 | 1 | 342 | 0.0029 | 3885 | c.726 others(3894): Show |
p.Ala others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7324/16366 | 7266/16008 | 2422/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
| UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3878): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0018 | a0018c0020 | a0018c0020t0018 | a0018c0020t0018g0048 | 1 | 128 | 0.0078 | 3885 | c.765 others(3904): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3878): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0100 | 1 | 128 | 0.0078 | 3885 | c.765 others(3904): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| MORN1_chr1_2316253_2396554 | 2325119 | T | TTCCTTCC others(3879): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 80 | 0.0125 | 3886 | c.125 others(3903): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
| PPP2R3B_chrX_328933_391907 | 363690 | C | CGATCCCA others(3879): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0008 | 1 | 25 | 0.0400 | 3886 | c.325 others(3903): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
| RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(3879): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0043 | 1 | 62 | 0.0161 | 3886 | c.*13 others(3899): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 257822 | C | CTAGGAAT others(3879): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0112 | 1 | 133 | 0.0075 | 3886 | c.439 others(3905): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| DNAJC7_chr17_41971435_42022439 | 42007839 | T | TTTTTTTT others(3880): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0272a0001c0002t0001g0273 | 2 | 338 | 0.0059 | 3887 | c.78- others(3902): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3880): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0029 | 1 | 251 | 0.0040 | 3887 | c.-45 others(3896): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(3880): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 279 | 0.0036 | 3887 | c.215 others(3904): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| DNAJC7_chr17_41971435_42022439 | 42007839 | T | TTTTTTTT others(3881): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 338 | 0.0030 | 3888 | c.78- others(3903): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
| DNAJC7_chr17_41971435_42022439 | 42007839 | T | TTTTTTTT others(3881): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0261 | 1 | 338 | 0.0030 | 3888 | c.78- others(3903): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3881): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173 | 1 | 400 | 0.0025 | 3888 | c.102 others(3903): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050244 | C | CCACGACA others(3881): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0172 | 1 | 400 | 0.0025 | 3888 | c.102 others(3903): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| NPDC1_chr9_137034463_137051177 | 137050244 | C | CCACGACA others(3881): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037 | 2 | 402 | 0.0050 | 3888 | c.-42 others(3899): Show |
NPDC1 | ENSG00000107281.10 | transcript | ENST00000371601.5 | protein_coding | 4068 | chr9 | TogoVar | |||||||
| DNAJC7_chr17_41971435_42022439 | 42003950 | A | ATTTTTTT others(3883): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 338 | 0.0030 | 3890 | c.78- others(3905): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
| ALPK2_chr18_58476247_58634091 | 58619299 | T | TGGAAGCT others(3884): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0021 | a0021c0073 | a0021c0073t0001 | a0021c0073t0001g0168 | 1 | 320 | 0.0031 | 3891 | c.-20 others(3908): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
| DNAJC7_chr17_41971435_42022439 | 42003950 | A | ATTTTTTT others(3884): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0260 | 1 | 338 | 0.0030 | 3891 | c.78- others(3906): Show |
DNAJC7 | ENSG00000168259.17 | transcript | ENST00000457167.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3884): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 251 | 0.0040 | 3891 | c.-45 others(3900): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| ALPK2_chr18_58476247_58634091 | 58619299 | T | TGGAAGCT others(3885): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0030 | a0030c0030 | a0030c0030t0006 | a0030c0030t0006g0081 | 1 | 320 | 0.0031 | 3892 | c.-20 others(3909): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
| ALPK2_chr18_58476247_58634091 | 58619299 | T | TGGAAGCT others(3885): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0050 | a0050c0050 | a0050c0050t0006 | a0050c0050t0006g0080 | 1 | 320 | 0.0031 | 3892 | c.-20 others(3909): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
| C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(3886): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 342 | 0.0029 | 3893 | c.366 others(3910): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
| AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(3887): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 268 | 0.0037 | 3894 | c.136 others(3911): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3887): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0204 | 1 | 268 | 0.0037 | 3894 | c.137 others(3911): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3887): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 236 | 0.0042 | 3894 | c.294 others(3911): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3887): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0125 | a0002c0125t0001 | a0002c0125t0001g0241 | 1 | 282 | 0.0036 | 3894 | c.299 others(3909): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
| DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(3890): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 | 1 | 274 | 0.0037 | 3897 | c.179 others(3916): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DYNC2I1_chr7_158851558_158951189 | 158917089 | T | TACACGCT others(3890): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 274 | 0.0037 | 3897 | c.179 others(3916): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3891): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 251 | 0.0040 | 3898 | c.-45 others(3907): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3892): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 251 | 0.0040 | 3899 | c.-45 others(3908): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3893): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0244 | 1 | 316 | 0.0032 | 3900 | c.44- others(3913): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| AP2B1_chr17_35582322_35731413 | 35604057 | C | CCATGTTA others(3895): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18942.hp1 NA18968.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0323a0001c0001t0004g0330a0001c0001t0004g0331others(3): Show | 6 | 372 | 0.0161 | 3902 | c.144 others(3919): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3895): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0004 | a0004c0091 | a0004c0091t0004 | a0004c0091t0004g0001 | 1 | 186 | 0.0054 | 3902 | c.723 others(3919): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
| AP2B1_chr17_35582322_35731413 | 35604057 | C | CCATGTTA others(3896): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0335 | 1 | 372 | 0.0027 | 3903 | c.144 others(3920): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3896): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0095 | 1 | 186 | 0.0054 | 3903 | c.723 others(3920): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3896): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0192 | 1 | 251 | 0.0040 | 3903 | c.-45 others(3912): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3896): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 251 | 0.0040 | 3903 | c.-45 others(3912): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(3896): Show |
upstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 251 | 0.0040 | 3903 | c.-45 others(3912): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| PAK2_chr3_196734857_196837647 | 196811333 | C | CTCCCTTC others(3896): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0055 | 1 | 178 | 0.0056 | 3903 | c.773 others(3918): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| SERINC2_chr1_31408213_31439678 | 31431935 | G | GTGGACAG others(3896): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 376 | 0.0027 | 3903 | c.101 others(3922): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SPAAR_chr9_35904490_35916686 | 35913472 | T | TTGCTGTG others(3896): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 420 | 0.0024 | 3903 | c.*27 others(3914): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1787 | chr9 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 321713 | T | CCAGAGAT others(3897): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0006 | 1 | 256 | 0.0039 | 3904 | c.828 others(3921): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | chr9 | TogoVar | |||||||
| ADGRA1_chr10_133082924_133136675 | 133111954 | T | TCCAGACA others(3899): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0288 | 1 | 368 | 0.0027 | 3906 | c.401 others(3923): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(3899): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0270 | 1 | 368 | 0.0027 | 3906 | c.401 others(3923): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3899): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 334 | 0.0030 | 3906 | c.147 others(3923): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242804 | T | TTCCCTAT others(3900): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0038 | a0001c0038t0001 | a0001c0038t0001g0046 | 1 | 183 | 0.0055 | 3907 | c.107 others(3926): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar |