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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC2_chr4_5557439_5713559 | 5706345 | G | GATAGATA others(2515): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0014 | a0014c0061 | a0014c0061t0002 | a0014c0061t0002g0050 | 1 | 292 | 0.0034 | 2522 | c.228 others(2539): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706345 | G | GATAGATA others(2515): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0004 | a0004c0006 | a0004c0006t0016 | a0004c0006t0016g0367 | 1 | 369 | 0.0027 | 2522 | c.-50 others(2533): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4855 | chr4 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997362 | G | GCGGGGGA others(2515): Show |
upstream_gene_variant | MODIFIER | NA18982.hp1 | a0018 | a0018c0022 | a0018c0022t0001 | a0018c0022t0001g0200 | 1 | 375 | 0.0027 | 2522 | c.-21 others(2533): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 308 | chr6 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099655 | C | CAGCCCCC others(2515): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0052 | 1 | 67 | 0.0149 | 2522 | c.56- others(2539): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2515): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 322 | 0.0031 | 2522 | c.178 others(2539): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2516): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 | 2 | 434 | 0.0046 | 2523 | c.16+ others(2538): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2516): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 434 | 0.0023 | 2523 | c.16+ others(2538): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2516): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 332 | 0.0030 | 2523 | c.179 others(2538): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18954.hp2 NA18956.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0013 | 3 | 432 | 0.0069 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 NA18959.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0008 | a0002c0002t0001a0003c0008t0001 | a0002c0002t0001g0139 a0002c0002t0001g0142 a0002c0002t0001g0209 others(1): Show |
4 | 432 | 0.0093 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0293 | 1 | 432 | 0.0023 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 a0001c0001t0001g0274 |
2 | 432 | 0.0046 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 432 | 0.0023 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 432 | 0.0023 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2516): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 432 | 0.0023 | 2523 | c.103 others(2540): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2516): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 a0001c0001t0003g0108 |
2 | 390 | 0.0051 | 2523 | c.68- others(2538): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2516): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 a0001c0001t0003g0124 |
2 | 390 | 0.0051 | 2523 | c.68- others(2538): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2516): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 a0001c0001t0003g0115 a0001c0001t0003g0116 others(3): Show |
6 | 390 | 0.0154 | 2523 | c.68- others(2538): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2516): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 390 | 0.0026 | 2523 | c.68- others(2538): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2516): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0001 | a0002c0001t0010 | a0002c0001t0010g0048 | 1 | 298 | 0.0034 | 2523 | c.126 others(2540): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2516): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 272 | 0.0037 | 2523 | c.389 others(2542): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2516): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0181 | 1 | 272 | 0.0037 | 2523 | c.389 others(2542): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2516): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 272 | 0.0037 | 2523 | c.389 others(2542): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2517): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 2 | 434 | 0.0046 | 2524 | c.16+ others(2539): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2517): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0103 | 1 | 432 | 0.0023 | 2524 | c.103 others(2541): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2517): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160 | 1 | 432 | 0.0023 | 2524 | c.103 others(2541): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2517): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01256.hp2 HG01258.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 a0002c0002t0001g0036 a0002c0002t0001g0112 others(6): Show |
13 | 432 | 0.0301 | 2524 | c.103 others(2541): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2517): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 432 | 0.0023 | 2524 | c.103 others(2541): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2517): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01255.hp1 HG01358.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0030 a0002c0002t0001g0040 a0002c0002t0001g0150 others(4): Show |
9 | 432 | 0.0208 | 2524 | c.103 others(2541): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882384 | G | GGGGAGAA others(2517): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0056 | 1 | 288 | 0.0035 | 2524 | c.303 others(2543): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2517): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 390 | 0.0026 | 2524 | c.68- others(2539): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2517): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0119 a0001c0001t0003g0120 |
2 | 390 | 0.0051 | 2524 | c.68- others(2539): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(2517): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0003a0002c0003t0003a0003c0005t0002 | a0001c0001t0003g0170 a0002c0003t0003g0169 a0003c0005t0002g0168 others(1): Show |
4 | 236 | 0.0170 | 2524 | c.294 others(2541): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198279 | G | GGAAGGCA others(2517): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0063 | 1 | 167 | 0.0060 | 2524 | c.646 others(2539): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2517): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0063 | 1 | 345 | 0.0029 | 2524 | c.*17 others(2535): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2517): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 | 1 | 345 | 0.0029 | 2524 | c.*16 others(2535): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2517): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 421 | 0.0024 | 2524 | c.*22 others(2535): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2517): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0012 | 1 | 421 | 0.0024 | 2524 | c.*22 others(2535): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAA others(2517): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 | 1 | 308 | 0.0033 | 2524 | c.157 others(2539): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTCTCT others(2517): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0005 | a0005c0004 | a0005c0004t0005 | a0005c0004t0005g0238 | 1 | 254 | 0.0039 | 2524 | c.-84 others(2541): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NPY1R_chr4_163318962_163337596 | 163335070 | T | TAAAGAGT others(2517): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 418 | 0.0024 | 2524 | c.-27 others(2535): Show |
NPY1R | ENSG00000164128.7 | transcript | ENST00000296533.3 | protein_coding | 2475 | chr4 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 266812 | C | CGGTGGCC others(2517): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 360 | 0.0028 | 2524 | c.-49 others(2535): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4833 | chr5 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2517): Show |
downstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 375 | 0.0027 | 2524 | c.*44 others(2535): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2517): Show |
intron_variant | MODIFIER | HG02970.hp2 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0080a0001c0002t0083 | a0001c0002t0080g0260 a0001c0002t0083g0259 |
2 | 264 | 0.0076 | 2524 | c.742 others(2541): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2517): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 272 | 0.0037 | 2524 | c.389 others(2543): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2518): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 | 1 | 434 | 0.0023 | 2525 | c.16+ others(2540): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2518): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 434 | 0.0023 | 2525 | c.16+ others(2540): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2518): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0114 | 1 | 432 | 0.0023 | 2525 | c.103 others(2542): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2518): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 432 | 0.0023 | 2525 | c.103 others(2542): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2518): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 432 | 0.0023 | 2525 | c.103 others(2542): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |