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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2676): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03139.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0148 a0003c0005t0002g0149 a0003c0005t0002g0154 others(1): Show |
4 | 169 | 0.0237 | 2683 | c.173 others(2704): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2676): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0152 | 1 | 166 | 0.0060 | 2683 | c.173 others(2704): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2676): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0162 |
3 | 155 | 0.0194 | 2683 | c.179 others(2702): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87384756 | T | TAAGATGT others(2676): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0356 a0001c0005t0004g0360 |
2 | 380 | 0.0053 | 2683 | c.211 others(2700): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2676): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0223 | 1 | 254 | 0.0039 | 2683 | c.-30 others(2694): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2676): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 71 | 0.0141 | 2683 | c.153 others(2702): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2676): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0056 | 1 | 71 | 0.0141 | 2683 | c.153 others(2702): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859759 | A | ATGGGTGT others(2676): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 285 | 0.0035 | 2683 | c.153 others(2702): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859767 | G | GAGTGGTG others(2676): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 278 | 0.0036 | 2683 | c.153 others(2702): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859767 | G | GAGTGGTG others(2676): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 278 | 0.0036 | 2683 | c.153 others(2702): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2676): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0220 | 1 | 211 | 0.0047 | 2683 | c.-22 others(2702): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2676): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 280 | 0.0036 | 2683 | c.-18 others(2704): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169197 | T | TCCTCTTC others(2676): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0005 | a0005c0008 | a0005c0008t0010 | a0005c0008t0010g0043 | 1 | 51 | 0.0196 | 2683 | c.*83 others(2692): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 746 | chrX | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37366405 | T | TAATACCT others(2677): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0278 | 1 | 298 | 0.0034 | 2684 | c.39- others(2701): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2677): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0012 | a0012c0013 | a0012c0013t0008 | a0012c0013t0008g0031 | 1 | 32 | 0.0313 | 2684 | c.56- others(2697): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM120B_chr6_170301758_170412067 | 170377914 | C | CGCCCGGG others(2677): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035 | 1 | 152 | 0.0066 | 2684 | c.228 others(2705): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87384756 | T | TAAGATGT others(2677): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0350 | 1 | 379 | 0.0026 | 2684 | c.211 others(2701): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2677): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 254 | 0.0039 | 2684 | c.-30 others(2695): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859782 | A | ATGGGTGT others(2677): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0012 | 1 | 287 | 0.0035 | 2684 | c.153 others(2703): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2677): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0025 | 1 | 9 | 0.1111 | 2684 | c.*39 others(2695): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(2677): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 352 | 0.0028 | 2684 | c.*32 others(2695): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2677): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0018 | 1 | 280 | 0.0036 | 2684 | c.-18 others(2705): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2677): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0240 | 1 | 280 | 0.0036 | 2684 | c.-18 others(2705): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2678): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0010 | a0010c0016 | a0010c0016t0001 | a0010c0016t0001g0166 | 1 | 288 | 0.0035 | 2685 | c.96+ others(2700): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2678): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0147 | 1 | 166 | 0.0060 | 2685 | c.173 others(2706): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2678): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 254 | 0.0039 | 2685 | c.109 others(2700): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366247 | G | GGGGCAGG others(2678): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0024 | 1 | 83 | 0.0120 | 2685 | c.830 others(2702): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2678): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0078 | 1 | 143 | 0.0070 | 2685 | c.58- others(2702): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2678): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0006 | a0006c0015 | a0006c0015t0011 | a0006c0015t0011g0044 | 1 | 49 | 0.0204 | 2685 | c.192 others(2704): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2678): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0001 | a0002c0001t0009 | a0002c0001t0009g0124 | 1 | 20 | 0.0500 | 2685 | c.206 others(2704): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2678): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0260 | 1 | 280 | 0.0036 | 2685 | c.-18 others(2706): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2678): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0005 | a0001c0005t0030 | a0001c0005t0030g0139 | 1 | 280 | 0.0036 | 2685 | c.-18 others(2706): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAF11L10_chr5_17592232_17602828 | 17598414 | T | TCTCCCAC others(2678): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 164 | 0.0122 | 2685 | c.-58 others(2694): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 587 | chr5 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2679): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 194 | 0.0052 | 2686 | c.573 others(2703): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
DOCK7_chr1_62449726_62693386 | 62456543 | T | TCAAGAAA others(2679): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 226 | 0.0044 | 2686 | c.638 others(2703): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 49/49 | chr1 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2679): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01517.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0124 others(20): Show |
23 | 175 | 0.1314 | 2686 | c.179 others(2705): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2679): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 a0001c0001t0002g0132 a0001c0001t0002g0158 others(6): Show |
9 | 161 | 0.0559 | 2686 | c.179 others(2705): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2679): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 153 | 0.0065 | 2686 | c.179 others(2705): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2679): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 153 | 0.0065 | 2686 | c.179 others(2705): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2679): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 |
2 | 154 | 0.0130 | 2686 | c.179 others(2705): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158915966 | C | CATTAAGG others(2679): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 153 | 0.0065 | 2686 | c.179 others(2705): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586336 | G | GGGAGGTG others(2679): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 306 | 0.0033 | 2686 | c.157 others(2703): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2679): Show |
upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 284 | 0.0035 | 2686 | c.-17 others(2697): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34699689 | T | TAAAAATG others(2679): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 | 1 | 254 | 0.0039 | 2686 | c.-30 others(2697): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 2923 | chr6 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(2679): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 331 | 0.0030 | 2686 | c.-49 others(2697): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1289707 | T | TCCCCGTG others(2679): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0018 | a0001c0018t0005 | a0001c0018t0005g0173 | 1 | 255 | 0.0039 | 2686 | c.166 others(2703): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2679): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 162 | 0.0062 | 2686 | c.-50 others(2697): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | |||||||
ST6GAL1_chr3_186925526_187083553 | 186982842 | C | CAGCTAAT others(2679): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0231 | 1 | 280 | 0.0036 | 2686 | c.-18 others(2707): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(2679): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 68 | 0.0147 | 2686 | c.218 others(2703): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP1_chr1_62432049_62456804 | 62456543 | T | TCAAGAAA others(2679): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 410 | 0.0024 | 2686 | c.*55 others(2697): Show |
USP1 | ENSG00000162607.13 | transcript | ENST00000339950.5 | protein_coding | 4740 | chr1 | TogoVar |