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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TWIST2_chr2_238843085_238915534 | 238870135 | C | CAAACCAC others(2890): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 319 | 0.0031 | 2897 | c.*35 others(2916): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2890): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18906.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 |
3 | 137 | 0.0219 | 2897 | c.10- others(2910): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2890): Show |
intron_variant | MODIFIER | HG00642.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0027 |
2 | 136 | 0.0147 | 2897 | c.10- others(2910): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2890): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0036 | 1 | 135 | 0.0074 | 2897 | c.10- others(2910): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2890): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0049 others(8): Show |
11 | 145 | 0.0759 | 2897 | c.10- others(2910): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2890): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0163 a0001c0001t0001g0164 others(7): Show |
14 | 148 | 0.0946 | 2897 | c.10- others(2910): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2891): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0057 | 1 | 371 | 0.0027 | 2898 | c.96+ others(2913): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648069 | G | CACCCAGT others(2891): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 298 | 0.0034 | 2898 | c.253 others(2913): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2891): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 146 | 0.0068 | 2898 | c.127 others(2917): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NCOA3_chr20_47496887_47661872 | 47589926 | T | TTGTTTTC others(2891): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0004 | a0004c0006 | a0004c0006t0025 | a0004c0006t0025g0090 | 1 | 304 | 0.0033 | 2898 | c.-20 others(2915): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OR4C11_chr11_55597360_55612645 | 55605403 | G | GTCAGGAC others(2891): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0046 | 1 | 233 | 0.0043 | 2898 | c.-20 others(2915): Show |
OR4C11 | ENSG00000172188.6 | transcript | ENST00000641580.1 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2891): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 135 | 0.0074 | 2898 | c.10- others(2911): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2891): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 135 | 0.0074 | 2898 | c.10- others(2911): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2891): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 135 | 0.0074 | 2898 | c.10- others(2911): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2891): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 135 | 0.0074 | 2898 | c.10- others(2911): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2892): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 75 | 0.0133 | 2899 | c.*69 others(2910): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163240 | C | CCCCTCCA others(2892): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0003 | a0003c0017 | a0003c0017t0002 | a0003c0017t0002g0091 | 1 | 217 | 0.0046 | 2899 | c.258 others(2916): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2892): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20300.hp2 |
a0001 | a0001c0005 | a0001c0005t0032 | a0001c0005t0032g0251 a0001c0005t0032g0252 |
2 | 107 | 0.0187 | 2899 | c.353 others(2916): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(2892): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 185 | 0.0054 | 2899 | c.153 others(2918): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
NCOA3_chr20_47496887_47661872 | 47589926 | T | TTGTTTTC others(2892): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01192.hp1 |
a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0081 a0004c0006t0006g0082 |
2 | 305 | 0.0066 | 2899 | c.-20 others(2916): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2892): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 65 | 0.0154 | 2899 | c.4-1 others(2912): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GGTGGGGA others(2892): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0106 | 1 | 102 | 0.0098 | 2899 | c.351 others(2918): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2892): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 135 | 0.0074 | 2899 | c.10- others(2912): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2893): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0288 | 1 | 50 | 0.0200 | 2900 | c.147 others(2917): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2893): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0036 | 1 | 166 | 0.0060 | 2900 | c.173 others(2921): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2893): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0268 | 1 | 76 | 0.0132 | 2900 | c.955 others(2917): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045866 | T | TTCCTCCA others(2893): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0058 | 1 | 254 | 0.0039 | 2900 | c.109 others(2915): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2893): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp2 NA19043.hp1 |
a0002a0011 | a0002c0011a0011c0030 | a0002c0011t0003a0011c0030t0003 | a0002c0011t0003g0264 a0002c0011t0003g0265 a0011c0030t0003g0263 |
3 | 6 | 0.5000 | 2900 | c.115 others(2919): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2893): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0073 | a0073c0040 | a0073c0040t0001 | a0073c0040t0001g0021 | 1 | 8 | 0.1250 | 2900 | c.723 others(2917): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2893): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0061 | a0061c0049 | a0061c0049t0001 | a0061c0049t0001g0059 | 1 | 8 | 0.1250 | 2900 | c.723 others(2917): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
NHS_chrX_17370200_17740994 | 17488904 | C | CTACATTA others(2893): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 | 1 | 163 | 0.0061 | 2900 | c.565 others(2921): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(2893): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0228 a0001c0001t0002g0209 |
2 | 291 | 0.0069 | 2900 | c.112 others(2917): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(2893): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0126 | 1 | 20 | 0.0500 | 2900 | c.206 others(2919): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2894): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0209 | 1 | 288 | 0.0035 | 2901 | c.96+ others(2916): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2894): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0019 | a0019c0031 | a0019c0031t0003 | a0019c0031t0003g0111 | 1 | 166 | 0.0060 | 2901 | c.173 others(2922): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2894): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106 | 1 | 166 | 0.0060 | 2901 | c.173 others(2922): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2894): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0051 | 1 | 166 | 0.0060 | 2901 | c.173 others(2922): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2894): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0038 | 1 | 166 | 0.0060 | 2901 | c.173 others(2922): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2894): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0007 | 1 | 166 | 0.0060 | 2901 | c.173 others(2922): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2894): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 166 | 0.0060 | 2901 | c.173 others(2922): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
FNIP2_chr4_158764026_158913050 | 158765827 | C | CAAAAAAA others(2894): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 243 | 0.0041 | 2901 | c.-33 others(2912): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 3198 | chr4 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAGAGAG others(2894): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0046 | 1 | 8 | 0.1250 | 2901 | c.723 others(2918): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
NHS_chrX_17370200_17740994 | 17488904 | C | CTACATTA others(2894): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 163 | 0.0061 | 2901 | c.565 others(2922): Show |
NHS | ENSG00000188158.17 | transcript | ENST00000676302.1 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81475719 | T | TTGTTGTT others(2894): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 168 | 0.0060 | 2901 | c.304 others(2920): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(2895): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0200 | 1 | 64 | 0.0156 | 2902 | c.294 others(2919): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2895): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 146 | 0.0068 | 2902 | c.127 others(2921): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2895): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0071 | a0071c0039 | a0071c0039t0001 | a0071c0039t0001g0019 | 1 | 8 | 0.1250 | 2902 | c.723 others(2919): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAGAGAG others(2895): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0025 | a0025c0061 | a0025c0061t0001 | a0025c0061t0001g0037 | 1 | 8 | 0.1250 | 2902 | c.723 others(2919): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910158 | G | GCCACCCA others(2895): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0073 | 1 | 276 | 0.0036 | 2902 | c.471 others(2917): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 266799 | C | CGTGCAGT others(2895): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 331 | 0.0030 | 2902 | c.-49 others(2913): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4846 | chr5 | TogoVar |