view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF662_chr3_42901142_42924334 | 42912645 | TATATATA others(55): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0024 | a0001c0001t0016g0033a0001c0001t0016g0048a0001c0001t0024g0033 | 3 | 382 | 0.0079 | -62 | c.152 others(77): Show |
ZNF662 | ENSG00000182983.15 | transcript | ENST00000440367.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803095 | TATACATA others(55): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0060 | a0001c0001t0059g0151a0001c0001t0060g0154 | 2 | 352 | 0.0057 | -62 | c.169 others(80): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803111 | TATATATA others(55): Show |
T | intron_variant | MODIFIER | HG02258.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0180a0001c0001t0006g0186 | 2 | 352 | 0.0057 | -62 | c.169 others(80): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803123 | CATATATA others(55): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0181 | 1 | 352 | 0.0028 | -62 | c.169 others(80): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967378 | TATATAAT others(54): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(100): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(50): Show | 103 | 324 | 0.3179 | -61 | c.-29 others(72): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2925 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81156136 | TACTATGT others(54): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0071 | a0007c0071t0001 | a0007c0071t0001g0204 | 1 | 368 | 0.0027 | -61 | c.55+ others(76): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42283633 | GCCTGGAC others(54): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG01975.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(1): Show | a0001c0001t0001g0165a0001c0001t0002g0164a0001c0001t0023g0023others(1): Show | 4 | 354 | 0.0113 | -61 | c.735 others(76): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42283722 | CACCCAGA others(54): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0097a0001c0001t0002g0222a0001c0001t0003g0320others(2): Show | 5 | 354 | 0.0141 | -61 | c.735 others(76): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42284079 | TCCCCCCG others(54): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01934.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0003g0320a0001c0001t0009g0322a0001c0001t0009g0323others(2): Show | 5 | 354 | 0.0141 | -61 | c.735 others(76): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1029859 | ACCACAGC others(54): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0075 | a0001c0001t0001g0124a0001c0001t0031g0241a0001c0001t0075g0156 | 3 | 337 | 0.0089 | -61 | c.179 others(82): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ADAM28_chr8_24289069_24364014 | 24338426 | CTCCCTGA others(54): Show |
C | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 348 | 0.0029 | -61 | c.156 others(78): Show |
ADAM28 | ENSG00000042980.14 | transcript | ENST00000265769.9 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130779708 | TTTATCCC others(54): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(119): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0063others(117): Show | 122 | 246 | 0.4959 | -61 | c.*62 others(70): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 592 | chr8 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133092996 | CAGGAAAG others(54): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0045 | 1 | 368 | 0.0027 | -61 | c.4-3 others(74): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA3_chr4_22382376_22521066 | 22431268 | AAAAGCCT others(54): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(143): Show |
a0001a0002a0008others(7): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0022a0001c0001t0001g0026a0001c0001t0001g0027others(143): Show | 146 | 290 | 0.5035 | -61 | c.144 others(80): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 10/18 | chr4 | TogoVar | |||||||
ADGRF1_chr6_46992708_47047332 | 47031257 | GTCTCTCT others(54): Show |
G | intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 400 | 0.0025 | -61 | c.-43 others(78): Show |
ADGRF1 | ENSG00000153292.16 | transcript | ENST00000371253.7 | protein_coding | 1/14 | chr6 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1028491 | CCCACGCC others(54): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001a0001c0002t0003g0013a0001c0002t0003g0045 | 4 | 210 | 0.0191 | -61 | c.463 others(78): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1028569 | GAAGGAAC others(54): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0013 | a0001c0013t0010 | a0001c0013t0010g0011a0001c0013t0010g0020 | 2 | 210 | 0.0095 | -61 | c.463 others(78): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1028857 | GCCACGCC others(54): Show |
G | intron_variant | MODIFIER | HG02523.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102a0001c0001t0001g0113 | 2 | 210 | 0.0095 | -61 | c.464 others(78): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1587735 | CCTCTCCC others(54): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 151 | 0.0066 | -61 | c.-40 others(72): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3868 | chrX | TogoVar | |||||||
AKIP1_chr11_8906189_8925079 | 8910648 | TGTGGACA others(54): Show |
T | upstream_gene_variant | MODIFIER | HG01168.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0047 | 1 | 420 | 0.0024 | -61 | c.-58 others(70): Show |
AKIP1 | ENSG00000166452.12 | transcript | ENST00000309377.9 | protein_coding | 540 | chr11 | TogoVar | |||||||
AKNA_chr9_114329156_114392982 | 114376047 | TCAGCCAG others(54): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 388 | 0.0026 | -61 | c.134 others(78): Show |
AKNA | ENSG00000106948.17 | transcript | ENST00000374088.8 | protein_coding | 3/21 | chr9 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58633384 | CTCATGAT others(54): Show |
C | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 320 | 0.0031 | -61 | c.-47 others(72): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4294 | chr18 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76815647 | AATTTTAC others(54): Show |
A | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0218 | 1 | 396 | 0.0025 | -61 | c.-28 others(72): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 2766 | chr14 | TogoVar | |||||||
ANKFN1_chr17_56148475_56522016 | 56467791 | GAAGAAAG others(54): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02886.hp2 others(3): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0006a0001c0004t0011a0003c0003t0003 | a0001c0004t0006g0079a0001c0004t0011g0065a0003c0003t0003g0002others(3): Show | 6 | 112 | 0.0536 | -61 | c.177 others(80): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89299371 | GCCTGCCC others(54): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 NA18950.hp1 others(8): Show |
a0005a0020 | a0005c0005a0020c0033 | a0005c0005t0001a0020c0033t0001 | a0005c0005t0001g0029a0005c0005t0001g0032a0005c0005t0001g0033others(8): Show | 11 | 310 | 0.0355 | -61 | c.226 others(78): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89398326 | CTGAAGAC others(54): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(149): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0006a0001c0007others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0027others(149): Show | 152 | 310 | 0.4903 | -61 | c.-60 others(80): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89398375 | GCTGTGAA others(54): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0018 | a0018c0046 | a0018c0046t0002 | a0018c0046t0002g0125 | 1 | 310 | 0.0032 | -61 | c.-60 others(80): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89412096 | CTACTGGG others(54): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp2 NA20129.hp2 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0001a0002c0002t0001 | a0001c0007t0001g0092a0002c0002t0001g0064a0002c0002t0001g0065 | 3 | 310 | 0.0097 | -61 | c.-60 others(78): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANKRD33B_chr5_10559070_10662816 | 10638976 | GCGGGTGA others(54): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01515.hp2 HG02055.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0024others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0044a0001c0001t0001g0131others(13): Show | 16 | 324 | 0.0494 | -61 | c.637 others(76): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
ANKRD33B_chr5_10559070_10662816 | 10639906 | GCGGGTGA others(54): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0152 | 1 | 324 | 0.0031 | -61 | c.637 others(78): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | chr5 | TogoVar | |||||||
ANO5_chr11_22188085_22288357 | 22286907 | CACATAGG others(54): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0286 | 1 | 364 | 0.0028 | -61 | c.*71 others(72): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 3551 | chr11 | TogoVar | |||||||
APOBEC3H_chr22_39092244_39109067 | 39101610 | GGGGGCGG others(54): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0083 | 1 | 418 | 0.0024 | -61 | c.418 others(76): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39101635 | GGGGGTGG others(54): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG03098.hp2 HG03688.hp2 |
a0002a0004 | a0002c0010a0004c0004 | a0002c0010t0008a0004c0004t0002 | a0002c0010t0008g0098a0004c0004t0002g0073a0004c0004t0002g0084 | 3 | 418 | 0.0072 | -61 | c.418 others(76): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
APOBEC3H_chr22_39092244_39109067 | 39101641 | GGGGGCGG others(54): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01261.hp2 HG01433.hp2 others(10): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0003a0003c0003t0002a0003c0003t0010others(2): Show | a0002c0002t0003g0096a0003c0003t0002g0016a0003c0003t0002g0039others(7): Show | 13 | 418 | 0.0311 | -61 | c.418 others(76): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144557485 | AAAAGGCT others(54): Show |
A | intron_variant | MODIFIER | HG03041.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0002t0001g0025 | 2 | 246 | 0.0081 | -61 | c.513 others(78): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1889500 | AGGAGACA others(54): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0154 | a0001c0154t0009 | a0001c0154t0009g0265 | 1 | 363 | 0.0028 | -61 | c.118 others(80): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049289 | GGGGGCAG others(54): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0007 | a0001c0001t0001g0245a0001c0007t0007g0001 | 2 | 308 | 0.0065 | -61 | c.*53 others(72): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2814 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049434 | GGGGGCAG others(54): Show |
G | downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 308 | 0.0033 | -61 | c.*52 others(72): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2669 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130049889 | GGGGGCAG others(54): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 308 | 0.0033 | -61 | c.*47 others(72): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2214 | chr8 | TogoVar | |||||||
ASAP1_chr8_130047104_130448674 | 130050005 | GAACACAT others(54): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp1 NA18942.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0271a0002c0002t0003g0282 | 2 | 308 | 0.0065 | -61 | c.*46 others(72): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2098 | chr8 | TogoVar | |||||||
ASB5_chr4_176208673_176274222 | 176219514 | TATATTTG others(54): Show |
T | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 410 | 0.0024 | -61 | c.670 others(78): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112804357 | CCCTCCTT others(54): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01891.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0019a0001c0001t0023a0001c0002t0053others(1): Show | a0001c0001t0019g0142a0001c0001t0023g0157a0001c0001t0023g0158others(2): Show | 5 | 254 | 0.0197 | -61 | c.163 others(76): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112845326 | GCACTATC others(54): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0016a0001c0017 | a0001c0016t0004a0001c0017t0058a0001c0017t0076 | a0001c0016t0004g0214a0001c0016t0004g0215a0001c0017t0058g0053others(1): Show | 4 | 254 | 0.0158 | -61 | c.180 others(80): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | chr13 | TogoVar | |||||||
ATP2C1_chr3_130889084_131008150 | 130992205 | GGTACTAT others(54): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 382 | 0.0026 | -61 | c.184 others(78): Show |
ATP2C1 | ENSG00000017260.20 | transcript | ENST00000510168.6 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79341340 | TCTGTGTT others(54): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0003a0002c0002t0002 | a0001c0004t0003g0101a0001c0004t0003g0102a0001c0004t0003g0103others(2): Show | 5 | 298 | 0.0168 | -61 | c.228 others(78): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79367143 | CGCAGAGA others(54): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 298 | 0.0034 | -61 | c.301 others(80): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AVPI1_chr10_97672424_97692241 | 97675922 | AGTGTCAG others(54): Show |
A | downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 446 | 0.0022 | -61 | c.*18 others(72): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 1501 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82976431 | ACCAGAGG others(54): Show |
A | intron_variant | MODIFIER | HG02818.hp1 NA21309.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0014a0001c0011t0030 | a0001c0003t0014g0194a0001c0011t0030g0143 | 2 | 266 | 0.0075 | -61 | c.460 others(80): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 82976577 | AAGGGCCC others(54): Show |
A | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0231 | 1 | 266 | 0.0038 | -61 | c.460 others(80): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214726966 | AAAGTGAC others(54): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02723.hp2 others(5): Show |
a0004a0005a0009 | a0004c0007a0005c0006a0009c0011 | a0004c0007t0068a0005c0006t0020a0005c0006t0046others(2): Show | a0004c0007t0068g0265a0005c0006t0020g0022a0005c0006t0020g0023others(5): Show | 8 | 362 | 0.0221 | -61 | c.*16 others(72): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 11/11 | 1649 | chr2 | TogoVar |