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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACOXL_chr2_110727573_111123548 | 110846636 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02004.hp2 NA18962.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0087 a0001c0003t0001g0040 a0001c0003t0001g0088 |
3 | 139 | 0.0216 | 20 | c.788 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 110846641 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0002others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0112 a0002c0002t0001g0018 others(6): Show |
9 | 31 | 0.2903 | 20 | c.788 others(37): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACP2_chr11_47234302_47253814 | 47245857 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18959.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0064 |
3 | 128 | 0.0234 | 20 | c.298 others(33): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
ACP2_chr11_47234302_47253814 | 47253134 | C | CGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0062 others(9): Show |
49 | 208 | 0.2356 | 20 | c.-43 others(31): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 4321 | chr11 | TogoVar | |||||||
ACP3_chr3_132312407_132363841 | 132325595 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0012a0001c0001t0019a0001c0001t0036others(3): Show | a0001c0001t0012g0080 a0001c0001t0012g0081 a0001c0001t0019g0230 others(5): Show |
8 | 141 | 0.0567 | 20 | c.121 others(37): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132347844 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0018 | a0001c0002t0003g0132 a0001c0002t0003g0145 a0001c0002t0004g0086 others(7): Show |
10 | 151 | 0.0662 | 20 | c.782 others(37): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132348999 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp2 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0004a0001c0003t0005others(1): Show | a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0004g0131 others(20): Show |
27 | 285 | 0.0947 | 20 | c.782 others(35): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132355471 | C | CTTATTTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(113): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0006 | a0001c0002t0003a0001c0002t0004a0001c0002t0011others(9): Show | a0001c0002t0003g0010 a0001c0002t0003g0039 a0001c0002t0003g0051 others(107): Show |
116 | 366 | 0.3169 | 20 | c.969 others(37): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01943.hp1 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0066 |
6 | 223 | 0.0269 | 20 | c.735 others(35): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01978.hp1 HG02165.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0003t0003a0001c0003t0006others(2): Show | a0001c0001t0006g0099 a0001c0003t0003g0002 a0001c0003t0003g0223 others(8): Show |
11 | 132 | 0.0833 | 20 | c.111 others(39): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG01099.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0002g0011 others(2): Show |
27 | 86 | 0.3140 | 20 | c.53- others(33): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78215724 | G | GAGAAAGA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02970.hp1 HG06807.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(1): Show | a0001c0001t0001g0295 a0001c0001t0001g0296 a0002c0003t0001g0130 others(3): Show |
6 | 110 | 0.0545 | 20 | c.132 others(37): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACACA others(13): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0192 | 1 | 17 | 0.0588 | 20 | c.-14 others(31): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 37 | 0.0270 | 20 | c.738 others(35): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0147 | 1 | 37 | 0.0270 | 20 | c.738 others(35): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6190812 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0012 | a0012c0025 | a0012c0025t0001 | a0012c0025t0001g0061 | 1 | 30 | 0.0333 | 20 | c.*35 others(35): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6197813 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | NA19085.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0001 | 1 | 228 | 0.0044 | 20 | c.*51 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4723 | chr19 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6197813 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 NA18973.hp2 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0133 a0003c0005t0001g0243 |
2 | 229 | 0.0087 | 20 | c.*51 others(31): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4723 | chr19 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89142486 | T | TCTGCAGA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0017 | a0005c0017t0033 | a0005c0017t0033g0347 | 1 | 366 | 0.0027 | 20 | c.136 others(39): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112423221 | A | AAAATATA others(13): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 27 | 0.0370 | 20 | c.159 others(37): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20627869 | C | CATACATA others(13): Show |
intron_variant | MODIFIER | NA18988.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 a0001c0001t0002g0155 |
2 | 67 | 0.0299 | 20 | c.130 others(37): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20664147 | G | GTATTTAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01099.hp2 HG01109.hp2 others(16): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0002g0164 a0001c0001t0002g0197 a0001c0001t0002g0198 others(16): Show |
19 | 30 | 0.6333 | 20 | c.913 others(37): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20678011 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02056.hp2 others(32): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0002g0024 a0001c0001t0002g0101 a0001c0001t0002g0150 others(32): Show |
35 | 103 | 0.3398 | 20 | c.611 others(37): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20431945 | A | AAATAATA others(13): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0105 | 1 | 372 | 0.0027 | 20 | c.130 others(37): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS1_chr20_25001237_25063139 | 25037001 | A | AAAGGAAG others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01106.hp2 others(9): Show |
a0001a0004 | a0001c0003a0001c0007a0001c0010others(1): Show | a0001c0003t0003a0001c0007t0001a0001c0007t0006others(2): Show | a0001c0003t0003g0005 a0001c0003t0003g0008 a0001c0003t0003g0086 others(7): Show |
12 | 207 | 0.0580 | 20 | c.432 others(37): Show |
ACSS1 | ENSG00000154930.15 | transcript | ENST00000323482.9 | protein_coding | 2/13 | chr20 | TogoVar | |||||||
ACSS2_chr20_34871612_34932959 | 34877909 | C | CAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01106.hp2 others(15): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0007 a0001c0001t0001g0153 a0001c0001t0001g0155 others(14): Show |
18 | 103 | 0.1748 | 20 | c.178 others(37): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS2_chr20_34871612_34932959 | 34899423 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG02080.hp1 NA18954.hp2 NA18966.hp2 others(3): Show |
a0001a0009 | a0001c0002a0009c0007 | a0001c0002t0001a0009c0007t0001 | a0001c0002t0001g0024 a0001c0002t0001g0053 a0001c0002t0001g0058 others(3): Show |
6 | 162 | 0.0370 | 20 | c.375 others(39): Show |
ACSS2 | ENSG00000131069.20 | transcript | ENST00000360596.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81107511 | C | CACACATA others(13): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 81 | 0.0123 | 20 | c.312 others(37): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213702 | T | TCTCCCCT others(13): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 282 | 0.0035 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213737 | C | CCTCCGCT others(13): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0082 | 1 | 287 | 0.0035 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213793 | T | TTTCTCTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00741.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0015a0001c0001t0031others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0073 others(13): Show |
16 | 199 | 0.0804 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213840 | T | TCTCTTCT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01106.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0027others(6): Show | a0001c0001t0003g0237 a0001c0001t0003g0240 a0001c0001t0003g0258 others(20): Show |
23 | 161 | 0.1429 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213840 | T | TCTCTTCT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 NA18969.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0002t0002g0075 others(1): Show |
4 | 142 | 0.0282 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213851 | C | CTCTCCTC others(13): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0090 | 1 | 145 | 0.0069 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81213896 | T | TTTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01952.hp1 HG02257.hp1 others(5): Show |
a0001a0004 | a0001c0002a0004c0012 | a0001c0002t0002a0004c0012t0002 | a0001c0002t0002g0036 a0001c0002t0002g0117 a0001c0002t0002g0119 others(5): Show |
8 | 252 | 0.0317 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | chr12 | TogoVar | |||||||
ACSS3_chr12_81073079_81266210 | 81213957 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01346.hp1 HG02027.hp1 others(12): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0008a0001c0001t0023others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(12): Show |
15 | 74 | 0.2027 | 20 | c.135 others(39): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTB_chr7_5522148_5535601 | 5525613 | A | ATGAATGA others(13): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 3 | 368 | 0.0082 | 20 | c.*21 others(31): Show |
ACTB | ENSG00000075624.17 | transcript | ENST00000646664.1 | protein_coding | 1534 | chr7 | TogoVar | |||||||
ACTG2_chr2_73888008_73924865 | 73906462 | T | TAATAAAT others(13): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02965.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0004 | 2 | 393 | 0.0051 | 20 | c.256 others(37): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTG2_chr2_73888008_73924865 | 73923641 | C | CAAGAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02451.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0004 | a0001c0002t0001g0020 a0001c0002t0001g0095 a0001c0003t0004g0035 others(1): Show |
5 | 101 | 0.0495 | 20 | c.*40 others(31): Show |
ACTG2 | ENSG00000163017.14 | transcript | ENST00000345517.8 | protein_coding | 3777 | chr2 | TogoVar | |||||||
ACTL6A_chr3_179557926_179593407 | 179579455 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18980.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 |
3 | 48 | 0.0625 | 20 | c.769 others(37): Show |
ACTL6A | ENSG00000136518.17 | transcript | ENST00000429709.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACTL8_chr1_17750333_17832063 | 17802415 | C | CCGTGCGT others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 364 | 0.0027 | 20 | c.-24 others(39): Show |
ACTL8 | ENSG00000117148.8 | transcript | ENST00000375406.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
ACTL9_chr19_8692400_8703795 | 8694853 | A | AAGAGAGA others(13): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01891.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 others(1): Show |
7 | 58 | 0.1207 | 20 | c.*25 others(31): Show |
ACTL9 | ENSG00000181786.6 | transcript | ENST00000324436.5 | protein_coding | 2546 | chr19 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68881936 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 256 | 0.0039 | 20 | c.195 others(37): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 16/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236737297 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 195 | 0.0051 | 20 | c.876 others(33): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | chr1 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236737315 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0096 | 1 | 333 | 0.0030 | 20 | c.876 others(35): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38642969 | A | ACAGGTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0070 | 1 | 312 | 0.0032 | 20 | c.-47 others(31): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4679 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38673477 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 312 | 0.0032 | 20 | c.162 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38673528 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 310 | 0.0032 | 20 | c.162 others(39): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735772 | C | CGGGGCGG others(13): Show |
downstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0279 | 1 | 296 | 0.0034 | 20 | c.*63 others(31): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4184 | chr19 | TogoVar | |||||||
ACTN4_chr19_38642649_38736589 | 38735793 | G | GGGGCGGG others(13): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01081.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0177 a0001c0003t0004g0191 a0001c0003t0004g0213 |
3 | 248 | 0.0121 | 20 | c.*63 others(31): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4205 | chr19 | TogoVar |