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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNPDA1_chr5_141995671_142018027 | 142000088 | A | ATGCTTGG others(3870): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0075 | 1 | 30 | 0.0333 | 3877 | c.*19 others(3888): Show |
GNPDA1 | ENSG00000113552.16 | transcript | ENST00000311337.11 | protein_coding | 582 | chr5 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3870): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0063 | a0063c0058 | a0063c0058t0001 | a0063c0058t0001g0038 | 1 | 8 | 0.1250 | 3877 | c.723 others(3894): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LYRM1_chr16_20895771_20930006 | 20913744 | T | TAAAACTG others(3873): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 380 | 0.0026 | 3880 | c.1-1 others(3893): Show |
LYRM1 | ENSG00000102897.10 | transcript | ENST00000567954.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3873): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0030 | 1 | 105 | 0.0095 | 3880 | c.765 others(3899): 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(3874): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0018 | 1 | 105 | 0.0095 | 3881 | c.765 others(3900): 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(3874): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 105 | 0.0095 | 3881 | c.765 others(3900): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953875 | A | ACACCCAC others(3875): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0067 | a0001c0067t0001 | a0001c0067t0001g0075 | 1 | 154 | 0.0065 | 3882 | c.503 others(3897): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3875): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0003 | a0003c0015 | a0003c0015t0004 | a0003c0015t0004g0073 | 1 | 105 | 0.0095 | 3882 | c.765 others(3901): 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(3875): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0040 | 1 | 105 | 0.0095 | 3882 | c.765 others(3901): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(3876): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 50 | 0.0200 | 3883 | c.147 others(3900): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3876): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0037 | 1 | 105 | 0.0095 | 3883 | c.765 others(3902): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3877): Show |
intron_variant | MODIFIER | NA18944.hp2 NA19060.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0197 a0001c0003t0002g0209 |
2 | 24 | 0.0833 | 3884 | c.137 others(3901): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144694251 | T | TGGATTAG others(3877): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0018 | a0018c0036 | a0018c0036t0007 | a0018c0036t0007g0116 | 1 | 105 | 0.0095 | 3884 | c.765 others(3903): 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(3877): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0026 | a0002c0026t0004 | a0002c0026t0004g0035 | 1 | 105 | 0.0095 | 3884 | c.765 others(3903): 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(3877): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18951.hp1 |
a0002a0015 | a0002c0035a0015c0032 | a0002c0035t0007a0015c0032t0018 | a0002c0035t0007g0092 a0015c0032t0018g0049 |
2 | 106 | 0.0189 | 3884 | c.765 others(3903): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 52/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(3878): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0007 | 1 | 57 | 0.0175 | 3885 | c.62+ others(3898): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG02735.hp2 | a0092 | a0092c0133 | a0092c0133t0001 | a0092c0133t0001g0238 | 1 | 16 | 0.0625 | 3885 | c.728 others(3894): Show |
p.Thr others(3900): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 7345/16366 | 7287/16008 | 2429/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC12_chr7_100964565_101023936 | 100997804 | A | AACCAGGC others(3878): Show |
disruptive_inframe_insertion | MODERATE | HG00738.hp2 | a0017 | a0017c0122 | a0017c0122t0001 | a0017c0122t0001g0239 | 1 | 16 | 0.0625 | 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 | HG04228.hp1 | a0017 | a0017c0130 | a0017c0130t0001 | a0017c0130t0001g0240 | 1 | 16 | 0.0625 | 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 | HG00408.hp2 | a0002 | a0002c0124 | a0002c0124t0001 | a0002c0124t0001g0213 | 1 | 16 | 0.0625 | 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 | HG00099.hp1 | a0001 | a0001c0128 | a0001c0128t0001 | a0001c0128t0001g0164 | 1 | 16 | 0.0625 | 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 | HG02602.hp2 | a0002 | a0002c0162 | a0002c0162t0003 | a0002c0162t0003g0219 | 1 | 16 | 0.0625 | 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 | HG02135.hp2 | a0075 | a0075c0108 | a0075c0108t0001 | a0075c0108t0001g0206 | 1 | 16 | 0.0625 | 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 | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(19): Show |
a0002a0017a0024others(2): Show | a0002c0010a0002c0028a0002c0029others(16): Show | a0002c0010t0001a0002c0028t0001a0002c0029t0001others(16): Show | a0002c0010t0001g0280 a0002c0010t0001g0281 a0002c0028t0001g0205 others(19): Show |
22 | 37 | 0.5946 | 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 | HG03927.hp2 | a0114 | a0114c0135 | a0114c0135t0001 | a0114c0135t0001g0222 | 1 | 16 | 0.0625 | 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 | HG01993.hp2 | a0002 | a0002c0125 | a0002c0125t0001 | a0002c0125t0001g0247 | 1 | 16 | 0.0625 | 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 | a0028 | a0028c0184 | a0028c0184t0001 | a0028c0184t0001g0283 | 1 | 16 | 0.0625 | 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 |
a0002 | a0002c0010a0002c0028 | a0002c0010t0001a0002c0028t0001 | a0002c0010t0001g0187 a0002c0010t0001g0197 a0002c0028t0001g0178 |
3 | 18 | 0.1667 | 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 | a0083 | a0083c0234 | a0083c0234t0001 | a0083c0234t0001g0217 | 1 | 16 | 0.0625 | 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 | a0002 | a0002c0132 | a0002c0132t0001 | a0002c0132t0001g0176 | 1 | 16 | 0.0625 | 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 | a0006 | a0006c0020 | a0006c0020t0018 | a0006c0020t0018g0048 | 1 | 105 | 0.0095 | 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 | 105 | 0.0095 | 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 | 78 | 0.0128 | 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 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0005 | 1 | 22 | 0.0455 | 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 | a0001c0001t0006 | a0001c0001t0006g0043 | 1 | 13 | 0.0769 | 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 | 111 | 0.0090 | 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 | a0001c0002t0001g0260 a0001c0002t0001g0261 |
2 | 334 | 0.0060 | 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 | a0001c0001t0022g0032 | 1 | 8 | 0.1250 | 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 | a0001c0001t0001g0237 | 1 | 13 | 0.0769 | 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 | a0001c0002t0001g0264 | 1 | 333 | 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 | a0001c0002t0001g0263 | 1 | 333 | 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 | a0001c0003t0001g0171 | 1 | 387 | 0.0026 | 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 | a0001c0003t0001g0170 | 1 | 387 | 0.0026 | 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 | a0001c0001t0001g0036 a0001c0001t0001g0037 |
2 | 391 | 0.0051 | 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 | a0001c0002t0001g0274 | 1 | 31 | 0.0323 | 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 | a0019 | a0019c0073 | a0019c0073t0001 | a0019c0073t0001g0168 | 1 | 316 | 0.0032 | 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 | a0001c0002t0001g0262 | 1 | 31 | 0.0323 | 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 | a0001c0001t0001g0017 | 1 | 8 | 0.1250 | 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 | a0016 | a0016c0030 | a0016c0030t0006 | a0016c0030t0006g0081 | 1 | 316 | 0.0032 | 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 | a0016 | a0016c0050 | a0016c0050t0006 | a0016c0050t0006g0080 | 1 | 316 | 0.0032 | 3892 | c.-20 others(3909): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar |