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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP10_chr4_147727088_148077776 | 147784734 | ATATATTA others(20): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01071.hp2 HG01167.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(14): Show | 17 | 106 | 0.1604 | -27 | c.155 others(46): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP15_chr2_143124419_143773352 | 143153843 | TTCCTCCT others(20): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 162 | 0.0062 | -27 | c.-14 others(44): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGAP15_chr2_143124419_143773352 | 143330112 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 162 | 0.0062 | -27 | c.474 others(46): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ARHGAP19_chr10_97217179_97297637 | 97251874 | ACAAATAG others(20): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0099 | 1 | 242 | 0.0041 | -27 | c.927 others(44): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGAP20_chr11_110572043_110717437 | 110572217 | TATACGCA others(20): Show |
T | downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 226 | 0.0044 | -27 | c.*71 others(38): Show |
ARHGAP20 | ENSG00000137727.13 | transcript | ENST00000683387.1 | protein_coding | 4825 | chr11 | TogoVar | ||||||
ARHGAP24_chr4_85470150_86007666 | 85487152 | GTATATAT others(20): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0044 | 1 | 108 | 0.0093 | -27 | c.-21 others(46): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP24_chr4_85470150_86007666 | 85487714 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0060 | 1 | 108 | 0.0093 | -27 | c.-21 others(46): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP24_chr4_85470150_86007666 | 85874831 | AAAATATA others(20): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0055 | 1 | 108 | 0.0093 | -27 | c.269 others(46): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARHGAP26_chr5_142765377_143234007 | 142949213 | GAGAGAGA others(20): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0141a0001c0001t0002g0013a0001c0001t0003g0167others(3): Show | 6 | 198 | 0.0303 | -27 | c.110 others(48): Show |
ARHGAP26 | ENSG00000145819.18 | transcript | ENST00000645722.2 | protein_coding | 11/22 | chr5 | TogoVar | ||||||
ARHGAP30_chr1_161041946_161074891 | 161051967 | TCACCACC others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0073a0001c0001t0001g0106others(42): Show | 47 | 390 | 0.1205 | -27 | c.101 others(44): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
ARHGAP30_chr1_161041946_161074891 | 161055868 | AATAAAAT others(20): Show |
A | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 390 | 0.0026 | -27 | c.345 others(42): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
ARHGAP30_chr1_161041946_161074891 | 161064828 | AAAGAGAA others(20): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03209.hp2 NA18612.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0131a0001c0001t0001g0376a0002c0002t0001g0348 | 3 | 390 | 0.0077 | -27 | c.97+ others(42): Show |
ARHGAP30 | ENSG00000186517.14 | transcript | ENST00000368013.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144661210 | AGAGGAGG others(20): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0075 | 1 | 246 | 0.0041 | -27 | c.-82 others(46): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144685239 | GTGGACAG others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00639.hp1 others(10): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0009others(4): Show | a0001c0002t0001g0003a0001c0002t0001g0007a0001c0002t0001g0013others(10): Show | 13 | 246 | 0.0529 | -27 | c.-82 others(42): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
ARHGAP42_chr11_100682288_100998941 | 100699502 | ATATATTT others(20): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0008t0001g0004a0002c0002t0002g0006a0002c0002t0002g0173others(4): Show | 7 | 286 | 0.0245 | -27 | c.154 others(46): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGAP42_chr11_100682288_100998941 | 100921225 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 286 | 0.0035 | -27 | c.487 others(42): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGAP42_chr11_100682288_100998941 | 100921227 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 286 | 0.0035 | -27 | c.487 others(42): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGAP8_chr22_44747575_44867784 | 44856254 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01192.hp2 others(18): Show |
a0002a0004a0008others(3): Show | a0002c0011a0002c0013a0002c0057others(7): Show | a0002c0011t0005a0002c0013t0005a0002c0057t0005others(7): Show | a0002c0011t0005g0016a0002c0011t0005g0086a0002c0011t0005g0284others(18): Show | 21 | 390 | 0.0539 | -27 | c.878 others(44): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
ARHGEF10L_chr1_17534698_17702869 | 17692824 | TTCTGTGC others(20): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0018 | a0002c0018t0002 | a0002c0018t0002g0155 | 1 | 168 | 0.0060 | -27 | c.318 others(46): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1888540 | GCTGAGTG others(20): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0131 | a0001c0131t0005 | a0001c0131t0005g0301 | 1 | 363 | 0.0028 | -27 | c.118 others(46): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1889373 | GTATGTGA others(20): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0154 | a0001c0154t0009 | a0001c0154t0009g0265 | 1 | 363 | 0.0028 | -27 | c.118 others(46): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1932477 | ACATGTGC others(20): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0161 | 1 | 363 | 0.0028 | -27 | c.308 others(46): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 25/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF12_chr11_120331413_120494937 | 120347141 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 308 | 0.0033 | -27 | c.32+ others(42): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF12_chr11_120331413_120494937 | 120347145 | TTCCTTCC others(20): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 308 | 0.0033 | -27 | c.32+ others(42): Show |
ARHGEF12 | ENSG00000196914.9 | transcript | ENST00000397843.7 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7362155 | GAGGAGAA others(20): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 HG02622.hp2 others(5): Show |
a0002a0014a0033 | a0002c0004a0002c0005a0002c0033others(2): Show | a0002c0004t0004a0002c0005t0001a0002c0033t0010others(2): Show | a0002c0004t0004g0261a0002c0004t0004g0262a0002c0005t0001g0259others(5): Show | 8 | 298 | 0.0269 | -27 | c.-11 others(44): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7389470 | TCCTTCCT others(20): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02129.hp2 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0002a0006c0008t0032 | a0006c0008t0002g0281a0006c0008t0002g0282a0006c0008t0002g0283others(1): Show | 4 | 298 | 0.0134 | -27 | c.967 others(44): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF28_chr5_73621196_73946990 | 73671714 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0017 | a0004c0017t0005 | a0004c0017t0005g0078 | 1 | 188 | 0.0053 | -27 | c.-11 others(46): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF28_chr5_73621196_73946990 | 73671720 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0004 | a0004c0017 | a0004c0017t0006 | a0004c0017t0006g0101 | 1 | 188 | 0.0053 | -27 | c.-11 others(46): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF37_chr5_149576498_149639968 | 149598312 | TCTTCTTC others(20): Show |
T | intron_variant | MODIFIER | NA18906.hp2 NA20129.hp1 |
a0004 | a0004c0010 | a0004c0010t0014 | a0004c0010t0014g0326a0004c0010t0014g0328 | 2 | 394 | 0.0051 | -27 | c.186 others(42): Show |
ARHGEF37 | ENSG00000183111.12 | transcript | ENST00000333677.7 | protein_coding | 2/12 | chr5 | TogoVar | ||||||
ARHGEF4_chr2_130831914_131052253 | 130833375 | GAAGGAAA others(20): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0138 | 1 | 144 | 0.0069 | -27 | c.-35 others(38): Show |
ARHGEF4 | ENSG00000136002.21 | transcript | ENST00000409359.7 | protein_coding | 3538 | chr2 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 156897215 | GCTGCTTC others(20): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 150 | 0.0067 | -27 | c.198 others(46): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARID4A_chr14_58293555_58378876 | 58319521 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01261.hp1 HG01928.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0177a0001c0001t0001g0197a0001c0001t0001g0201others(25): Show | 28 | 294 | 0.0952 | -27 | c.449 others(42): Show |
ARID4A | ENSG00000032219.19 | transcript | ENST00000355431.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ARL10_chr5_176360487_176386909 | 176375315 | TCCATCCA others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01516.hp1 HG01517.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0059a0001c0003t0162a0001c0003t0163others(5): Show | a0001c0003t0059g0018a0001c0003t0162g0022a0001c0003t0163g0022others(5): Show | 9 | 418 | 0.0215 | -27 | c.*34 others(38): Show |
ARL10 | ENSG00000175414.7 | transcript | ENST00000310389.6 | protein_coding | 4/4 | 3442 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
ARL15_chr5_53878942_54315573 | 53991753 | GAATCTCC others(20): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 206 | 0.0049 | -27 | c.463 others(48): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 54029305 | TTACCACC others(20): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0175a0001c0001t0001g0194others(7): Show | 10 | 206 | 0.0485 | -27 | c.462 others(46): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL15_chr5_53878942_54315573 | 54029333 | TACCACCA others(20): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 206 | 0.0049 | -27 | c.462 others(46): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
ARL9_chr4_56500791_56529453 | 56519481 | TCACCTGT others(20): Show |
T | intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 416 | 0.0024 | -27 | c.618 others(42): Show |
ARL9 | ENSG00000196503.5 | transcript | ENST00000640821.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ARMC8_chr3_138182301_138303373 | 138280244 | GCAAAGAA others(20): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG00741.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0089others(13): Show | 16 | 246 | 0.0650 | -27 | c.172 others(46): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARPC3_chr12_110429823_110455337 | 110446457 | CCAGCTAA others(20): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 334 | 0.0030 | -27 | c.7-9 others(38): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
ARPIN_chr15_89890006_89917952 | 89910887 | CTATTTAC others(20): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(5): Show | a0001c0001t0002g0013a0001c0001t0002g0030a0001c0001t0002g0032others(20): Show | 35 | 414 | 0.0845 | -27 | c.93- others(38): Show |
ARPIN | ENSG00000242498.8 | transcript | ENST00000357484.10 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
ARRB1_chr11_75255122_75356661 | 75261073 | CCAATATC others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02257.hp1 HG02723.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0043a0001c0001t0044others(1): Show | a0001c0001t0042g0055a0001c0001t0043g0235a0001c0001t0044g0211others(1): Show | 4 | 320 | 0.0125 | -27 | c.*50 others(38): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 16/16 | 5063 | chr11 | TogoVar | |||||
ARRDC1_chr9_137600686_137620360 | 137601237 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 5 | 338 | 0.0148 | -27 | c.-44 others(38): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4448 | chr9 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78828226 | GTGTATTT others(20): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0018a0001c0001t0043others(7): Show | a0001c0001t0004g0009a0001c0001t0018g0130a0001c0001t0043g0090others(8): Show | 11 | 360 | 0.0306 | -27 | c.121 others(48): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78968315 | TTTATTAT others(20): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp1 HG00741.hp1 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0245a0001c0001t0001g0263a0001c0001t0001g0265others(97): Show | 100 | 360 | 0.2778 | -27 | c.499 others(42): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 2/7 | chr5 | TogoVar | ||||||
AR_chrX_67539021_67735619 | 67545316 | TGCAGCAG others(20): Show |
T | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp2 |
a0021 | a0021c0020 | a0021c0020t0011 | a0021c0020t0011g0111a0021c0020t0011g0130 | 2 | 193 | 0.0104 | -27 | c.213 others(34): Show |
p.Gln others(11): Show |
AR | ENSG00000169083.18 | transcript | ENST00000374690.9 | protein_coding | 1/8 | 1339/10667 | 213/2763 | 71/920 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
AS3MT_chr10_102864470_102906899 | 102885495 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG01952.hp2 HG01981.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0281others(9): Show | 14 | 362 | 0.0387 | -27 | c.886 others(44): Show |
AS3MT | ENSG00000214435.9 | transcript | ENST00000369880.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ASB15_chr7_123596821_123644481 | 123620530 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0218 | 1 | 380 | 0.0026 | -27 | c.451 others(44): Show |
ASB15 | ENSG00000146809.14 | transcript | ENST00000451215.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ASB5_chr4_176208673_176274222 | 176218644 | AATATATA others(20): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02015.hp1 HG03834.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0137a0001c0001t0001g0245a0001c0001t0001g0318others(3): Show | 6 | 410 | 0.0146 | -27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176218928 | TATATAAA others(20): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00733.hp1 others(51): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(46): Show | 54 | 410 | 0.1317 | -27 | c.671 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar | ||||||
ASB5_chr4_176208673_176274222 | 176219417 | ATATGTAT others(20): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 410 | 0.0024 | -27 | c.670 others(44): Show |
ASB5 | ENSG00000164122.9 | transcript | ENST00000296525.7 | protein_coding | 5/6 | chr4 | TogoVar |