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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1033): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 8 | 0.1250 | 1040 | c.285 others(1059): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9400231 | C | CCCTCCCC others(1033): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0052 | 1 | 190 | 0.0053 | 1040 | c.273 others(1057): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758861 | C | CCTAACTC others(1033): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0016 | a0016c0024 | a0016c0024t0001 | a0016c0024t0001g0020 | 1 | 263 | 0.0038 | 1040 | c.654 others(1059): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(1033): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 223 | 0.0045 | 1040 | c.*36 others(1051): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61331582 | C | CCCCAGGC others(1033): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0019 | 1 | 53 | 0.0189 | 1040 | c.169 others(1059): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1033): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG02559.hp2 |
a0002a0004a0013 | a0002c0002a0004c0026a0013c0062 | a0002c0002t0003a0004c0026t0022a0013c0062t0097 | a0002c0002t0003g0239 a0004c0026t0022g0195 a0013c0062t0097g0307 |
3 | 68 | 0.0441 | 1040 | c.-25 others(1051): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1033): Show |
upstream_gene_variant | MODIFIER | HG01258.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0057 | 1 | 66 | 0.0152 | 1040 | c.-25 others(1051): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1033): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0146 | 1 | 8 | 0.1250 | 1040 | c.328 others(1057): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929387 | G | GGGGACAG others(1033): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0094 | 1 | 276 | 0.0036 | 1040 | c.328 others(1057): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1033): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0029 | 1 | 16 | 0.0625 | 1040 | c.164 others(1059): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1033): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0190 a0001c0001t0006g0110 a0001c0001t0006g0114 others(3): Show |
6 | 35 | 0.1714 | 1040 | c.445 others(1055): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1033): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0254 | 1 | 180 | 0.0056 | 1040 | c.85- others(1057): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1033): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 13 | 0.0769 | 1040 | c.109 others(1059): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15932685 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0046 | 1 | 346 | 0.0029 | 1040 | c.198 others(1057): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932725 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0024 | 1 | 348 | 0.0029 | 1040 | c.198 others(1057): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932745 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0030 | 1 | 342 | 0.0029 | 1040 | c.198 others(1057): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933405 | G | GAGAGGAA others(1033): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0001 | a0002c0001t0134 | a0002c0001t0134g0360 | 1 | 340 | 0.0029 | 1040 | c.198 others(1055): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1033): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0148 | 1 | 45 | 0.0222 | 1040 | c.724 others(1059): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 894845 | G | GCTGGCAG others(1033): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 3 | 0.3333 | 1040 | c.19- others(1057): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1033): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0053 | a0053c0231 | a0053c0231t0001 | a0053c0231t0001g0136 | 1 | 98 | 0.0102 | 1040 | c.118 others(1059): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(1033): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0205 | 1 | 73 | 0.0137 | 1040 | c.162 others(1059): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1033): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 176 | 0.0057 | 1040 | c.162 others(1059): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203112 | C | CGGCCGCC others(1033): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 176 | 0.0057 | 1040 | c.162 others(1059): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180635057 | G | GATGGATG others(1033): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0372 | 1 | 306 | 0.0033 | 1040 | c.59- others(1055): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(1033): Show |
intron_variant | MODIFIER | HG02451.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0057 | a0001c0001t0006g0055 a0001c0001t0057g0049 |
2 | 12 | 0.1667 | 1040 | c.-16 others(1061): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315691 | C | CGCAGACA others(1033): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0092 | 1 | 143 | 0.0070 | 1040 | c.488 others(1055): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997496 | A | ATCTGCAG others(1033): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 162 | 0.0062 | 1040 | c.-19 others(1051): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 174 | chr6 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(1033): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0240 | 1 | 216 | 0.0046 | 1040 | c.129 others(1057): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1033): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0025 | a0003c0025t0002 | a0003c0025t0002g0033 | 1 | 8 | 0.1250 | 1040 | c.641 others(1055): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1033): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 6 | 0.1667 | 1040 | c.-8+ others(1053): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1033): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 4 | 0.2500 | 1040 | c.160 others(1057): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1033): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02970.hp2 HG03579.hp1 |
a0033a0039 | a0033c0028a0039c0040 | a0033c0028t0001a0039c0040t0001 | a0033c0028t0001g0107 a0033c0028t0001g0117 a0039c0040t0001g0171 |
3 | 104 | 0.0288 | 1040 | c.252 others(1059): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532291 | C | CTGCAGTC others(1033): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0255 | 1 | 264 | 0.0038 | 1040 | c.*47 others(1051): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2969 | chr18 | TogoVar | |||||||
NKAIN2_chr6_123798865_124830640 | 124138645 | T | TATTAATA others(1033): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0027 | 1 | 66 | 0.0152 | 1040 | c.55- others(1059): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGA others(1033): Show |
upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 294 | 0.0034 | 1040 | c.-72 others(1049): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | |||||||
NME8_chr7_37843597_37905397 | 37848245 | G | GAAGAAGG others(1033): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 294 | 0.0034 | 1040 | c.-72 others(1049): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 351 | chr7 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(1033): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 165 | 0.0061 | 1040 | c.361 others(1059): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1033): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 1040 | c.*31 others(1051): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104124116 | A | AGACAGTA others(1033): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0242 | 1 | 31 | 0.0323 | 1040 | c.*27 others(1051): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 2224 | chr7 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168560564 | C | CTCACTGT others(1033): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0045 | 1 | 172 | 0.0058 | 1040 | c.637 others(1059): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168561820 | G | GTTCTTGG others(1033): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 129 | 0.0078 | 1040 | c.637 others(1059): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747471 | G | GCTGGGGT others(1033): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0230 | 1 | 260 | 0.0038 | 1040 | c.189 others(1055): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747505 | C | TGGGAGGC others(1033): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0229 | 1 | 238 | 0.0042 | 1040 | c.189 others(1055): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1033): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 149 | 0.0067 | 1040 | c.129 others(1057): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948633 | A | AGGGGATG others(1033): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 47 | 0.0213 | 1040 | c.114 others(1057): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1033): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 113 | 0.0088 | 1040 | c.*53 others(1051): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1034): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 82 | 0.0122 | 1041 | c.106 others(1060): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1034): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0215 | 1 | 8 | 0.1250 | 1041 | c.285 others(1060): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049842 | T | TACATGGG others(1034): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0301 | 1 | 116 | 0.0086 | 1041 | c.*48 others(1052): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2261 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1034): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0148 | 1 | 72 | 0.0139 | 1041 | c.273 others(1058): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar |