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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBAP2_chr9_33916693_34053887 | 33990461 | T | TAAAATGG others(2903): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0288 | 1 | 353 | 0.0028 | 2910 | c.289 others(2927): Show |
UBAP2 | ENSG00000137073.24 | transcript | ENST00000379238.7 | protein_coding | 4/28 | chr9 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 135 | 0.0074 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03688.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0261 a0001c0001t0001g0316 a0001c0001t0001g0342 others(1): Show |
4 | 138 | 0.0290 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02258.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0259 |
3 | 137 | 0.0219 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01175.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0175 a0001c0001t0001g0252 a0001c0001t0001g0260 others(14): Show |
17 | 151 | 0.1126 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 135 | 0.0074 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01934.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0176 a0001c0001t0001g0177 others(1): Show |
4 | 138 | 0.0290 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2903): Show |
intron_variant | MODIFIER | HG00423.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 a0001c0001t0001g0306 |
2 | 136 | 0.0147 | 2910 | c.10- others(2923): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2904): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0258 | 1 | 288 | 0.0035 | 2911 | c.96+ others(2926): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2904): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0029 | 1 | 166 | 0.0060 | 2911 | c.173 others(2932): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2904): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 146 | 0.0068 | 2911 | c.127 others(2930): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2904): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 146 | 0.0068 | 2911 | c.127 others(2930): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2904): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG02055.hp2 others(10): Show |
a0003a0009 | a0003c0005a0009c0019 | a0003c0005t0001a0009c0019t0001 | a0003c0005t0001g0014 a0003c0005t0001g0015 a0003c0005t0001g0064 others(10): Show |
13 | 16 | 0.8125 | 2911 | c.115 others(2930): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NIPAL3_chr1_24410802_24477976 | 24448673 | C | CAAGAATG others(2904): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0074 | a0001c0001t0008g0287 a0001c0001t0008g0297 a0001c0001t0074g0286 |
3 | 372 | 0.0081 | 2911 | c.395 others(2926): Show |
NIPAL3 | ENSG00000001461.17 | transcript | ENST00000374399.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NIPAL3_chr1_24410802_24477976 | 24448673 | C | CAAGAATG others(2904): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01361.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 a0001c0001t0008g0290 |
3 | 372 | 0.0081 | 2911 | c.395 others(2926): Show |
NIPAL3 | ENSG00000001461.17 | transcript | ENST00000374399.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494762 | T | TGAGGTGG others(2904): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0036 | 1 | 250 | 0.0040 | 2911 | c.126 others(2930): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2904): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0065 | 1 | 274 | 0.0036 | 2911 | c.130 others(2928): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2904): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 135 | 0.0074 | 2911 | c.10- others(2924): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2904): Show |
intron_variant | MODIFIER | HG03486.hp1 NA19012.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0317 a0001c0004t0001g0290 |
2 | 136 | 0.0147 | 2911 | c.10- others(2924): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2904): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 2 | 136 | 0.0147 | 2911 | c.10- others(2924): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2904): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 135 | 0.0074 | 2911 | c.10- others(2924): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2904): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 135 | 0.0074 | 2911 | c.10- others(2924): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF565_chr19_36177276_36219665 | 36195648 | G | GATTCTCC others(2904): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 135 | 0.0074 | 2911 | c.10- others(2924): Show |
ZNF565 | ENSG00000196357.12 | transcript | ENST00000304116.10 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2905): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 | 1 | 166 | 0.0060 | 2912 | c.173 others(2933): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAATAAA others(2905): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0047 | 1 | 166 | 0.0060 | 2912 | c.173 others(2933): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2905): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18974.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 a0001c0001t0001g0104 a0001c0001t0001g0107 |
3 | 18 | 0.1667 | 2912 | c.164 others(2931): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819303 | C | CCCTCCCC others(2905): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0025 | 1 | 47 | 0.0213 | 2912 | c.56- others(2925): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2905): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 146 | 0.0068 | 2912 | c.127 others(2931): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2905): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18522.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 |
3 | 148 | 0.0203 | 2912 | c.127 others(2931): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2905): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0051 | 1 | 146 | 0.0068 | 2912 | c.127 others(2931): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DTX2_chr7_76456709_76510991 | 76499154 | T | TGTGGAGG others(2905): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0077 | 1 | 4 | 0.2500 | 2912 | c.115 others(2931): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ENPP1_chr6_131803020_131900155 | 131874453 | A | ACTTTCTT others(2905): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0005 | a0003c0005t0009 | a0003c0005t0009g0277 | 1 | 283 | 0.0035 | 2912 | c.163 others(2929): Show |
ENPP1 | ENSG00000197594.14 | transcript | ENST00000647893.1 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(2905): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 246 | 0.0041 | 2912 | c.129 others(2931): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325121 | C | CCTTCCCT others(2905): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 53 | 0.0189 | 2912 | c.125 others(2929): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273107 | A | AGAGACCC others(2905): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0022 | 1 | 124 | 0.0081 | 2912 | c.438 others(2929): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2905): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 7 | 0.1429 | 2912 | c.*27 others(2923): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
SEC23A_chr14_39026919_39108235 | 39064016 | T | TAAAAGTA others(2905): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 274 | 0.0036 | 2912 | c.130 others(2929): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 11/19 | chr14 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2906): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0124 | 1 | 166 | 0.0060 | 2913 | c.173 others(2934): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2906): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0141 | 1 | 166 | 0.0060 | 2913 | c.173 others(2934): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2906): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0192 | 1 | 166 | 0.0060 | 2913 | c.173 others(2934): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2906): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0046 | 1 | 166 | 0.0060 | 2913 | c.173 others(2934): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2906): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 146 | 0.0068 | 2913 | c.127 others(2932): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2906): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0069 | 1 | 146 | 0.0068 | 2913 | c.127 others(2932): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18724789 | A | AAGACTGT others(2906): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 146 | 0.0068 | 2913 | c.127 others(2932): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2906): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0092 | 1 | 2 | 0.5000 | 2913 | c.126 others(2930): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2906): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0054 | 1 | 8 | 0.1250 | 2913 | c.400 others(2932): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2906): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0005 | a0005c0022 | a0005c0022t0017 | a0005c0022t0017g0160 | 1 | 8 | 0.1250 | 2913 | c.400 others(2932): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2906): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0079 | 1 | 8 | 0.1250 | 2913 | c.400 others(2932): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2906): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0169 | 1 | 227 | 0.0044 | 2913 | c.-25 others(2930): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2906): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0024 | a0024c0041 | a0024c0041t0001 | a0024c0041t0001g0020 | 1 | 8 | 0.1250 | 2913 | c.723 others(2930): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar |