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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0126 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0006 | a0006c0010 | a0006c0010t0002 | a0006c0010t0002g0117 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0118 | 1 | 143 | 0.0070 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585669 | C | CACAGCCC others(861): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18522.hp2 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0003a0002c0013 | a0001c0001t0003a0002c0003t0005a0002c0013t0003 | a0001c0001t0003g0123 a0002c0003t0005g0146 a0002c0013t0003g0124 |
3 | 145 | 0.0207 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585737 | C | CCTGGATG others(861): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0142 a0002c0002t0001g0141 |
2 | 228 | 0.0088 | 868 | c.294 others(885): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAAG others(861): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0010 | a0010c0054 | a0010c0054t0001 | a0010c0054t0001g0137 | 1 | 180 | 0.0056 | 868 | c.85- others(885): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232020 | A | ACCACTAC others(861): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 324 | 0.0031 | 868 | c.513 others(885): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(861): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0040 | 1 | 45 | 0.0222 | 868 | c.724 others(887): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(861): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 45 | 0.0222 | 868 | c.724 others(887): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(861): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 45 | 0.0222 | 868 | c.724 others(887): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486940 | C | CTCCCCCC others(861): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0110 | 1 | 52 | 0.0192 | 868 | c.*13 others(879): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1073 | chr20 | TogoVar | |||||||
FAM167A_chr8_11416476_11471753 | 11456151 | A | ATGTGGGG others(861): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0139 | 1 | 151 | 0.0066 | 868 | c.-39 others(889): Show |
FAM167A | ENSG00000154319.16 | transcript | ENST00000284486.9 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586451 | G | GAGGGGAA others(861): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0294 | 1 | 264 | 0.0038 | 868 | c.157 others(885): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435643 | A | AGGAGGGA others(861): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0066 | 1 | 60 | 0.0167 | 868 | c.-16 others(889): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(861): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0036 | 1 | 134 | 0.0075 | 868 | c.-28 others(879): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531138 | C | CAGAAGGG others(861): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 394 | 0.0025 | 868 | c.*13 others(879): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1103 | chr11 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(861): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058 | 1 | 13 | 0.0769 | 868 | c.978 others(885): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(861): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 188 | 0.0053 | 868 | c.-30 others(879): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284554 | A | AATAATAA others(861): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0000 | 1 | 406 | 0.0025 | 868 | c.-30 others(879): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2933 | chr19 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(861): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 11 | 0.0909 | 868 | c.104 others(887): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(861): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0171 | 1 | 165 | 0.0061 | 868 | c.450 others(885): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(861): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0005 | a0005c0008a0005c0010 | a0005c0008t0001a0005c0010t0001 | a0005c0008t0001g0005 a0005c0010t0001g0005 |
2 | 410 | 0.0049 | 868 | c.-29 others(879): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364447 | A | ACCCACAC others(861): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 | 1 | 260 | 0.0038 | 868 | c.129 others(885): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364461 | C | CCACCCAC others(861): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 256 | 0.0039 | 868 | c.129 others(885): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(861): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 125 | 0.0080 | 868 | c.-49 others(879): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTCCCC others(861): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0152 | 1 | 3 | 0.3333 | 868 | c.-12 others(887): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MINAR1_chr15_79427336_79477304 | 79438895 | G | GTGGGGTG others(861): Show |
intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0154 a0002c0003t0003g0155 |
2 | 387 | 0.0052 | 868 | c.-51 others(885): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(861): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 8 | 0.1250 | 868 | c.250 others(883): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(861): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0087 | 1 | 276 | 0.0036 | 868 | c.195 others(885): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(861): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18956.hp1 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0093 |
3 | 123 | 0.0244 | 868 | c.201 others(885): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 492487 | T | TCCCGGGA others(861): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 192 | 0.0052 | 868 | c.126 others(887): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(861): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0050 | a0001c0001t0020g0021 a0001c0001t0050g0063 |
2 | 20 | 0.1000 | 868 | c.24+ others(885): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(861): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0209 | 1 | 19 | 0.0526 | 868 | c.24+ others(885): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(861): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02647.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0009 a0002c0002t0001g0008 a0002c0002t0001g0010 |
3 | 176 | 0.0170 | 868 | c.66+ others(883): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272951 | A | AAGGGCTA others(861): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 113 | 0.0088 | 868 | c.438 others(885): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 272967 | T | TGAGACCC others(861): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 58 | 0.0172 | 868 | c.438 others(885): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 272967 | T | TGAGACCC others(861): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0071 | 1 | 58 | 0.0172 | 868 | c.438 others(885): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(861): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(14): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 others(39): Show |
42 | 43 | 0.9767 | 868 | c.-12 others(887): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243480604 | A | ATGGATGG others(861): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 2 | 0.5000 | 868 | c.198 others(887): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(861): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 31 | 0.0323 | 868 | c.638 others(883): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCEA3_chr1_23375909_23429748 | 23392445 | A | AATACACA others(861): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0158 a0001c0001t0002g0333 |
2 | 3 | 0.6667 | 868 | c.819 others(885): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(861): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0011 | a0001c0011t0035 | a0001c0011t0035g0174 | 1 | 98 | 0.0102 | 868 | c.41- others(885): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(861): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 98 | 0.0102 | 868 | c.41- others(885): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50029363 | C | CCCCACAC others(861): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0089 | 1 | 208 | 0.0048 | 868 | c.225 others(887): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(861): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 290 | 0.0034 | 868 | c.*35 others(887): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(861): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0009 | 1 | 2 | 0.5000 | 868 | c.*53 others(879): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241674918 | T | TCCTTCCT others(861): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 197 | 0.0051 | 868 | c.483 others(883): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ASB9_chrX_15238987_15275083 | 15267555 | T | TAACATGG others(862): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01361.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 |
3 | 29 | 0.1034 | 869 | c.94+ others(884): Show |
ASB9 | ENSG00000102048.16 | transcript | ENST00000380488.9 | protein_coding | 1/6 | chrX | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004583 | G | GGTGATGG others(862): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03579.hp1 |
a0038 | a0038c0034 | a0038c0034t0001 | a0038c0034t0001g0017 a0038c0034t0001g0330 |
2 | 327 | 0.0061 | 869 | c.963 others(886): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004583 | G | GGTGATGG others(862): Show |
intron_variant | MODIFIER | HG02109.hp2 NA18906.hp1 |
a0056a0096 | a0056c0052a0096c0076 | a0056c0052t0001a0096c0076t0001 | a0056c0052t0001g0030 a0096c0076t0001g0328 |
2 | 327 | 0.0061 | 869 | c.963 others(886): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar |