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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACLY_chr17_41861918_41923951 | 41882367 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG02451.hp1 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0018 a0001c0001t0001g0095 a0001c0001t0001g0155 others(6): Show |
9 | 22 | 0.4091 | 7 | c.226 others(24): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41887127 | G | GAAAAAAA | intron_variant | MODIFIER | HG02630.hp2 HG03017.hp2 NA18957.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0008 | a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0277 others(5): Show |
8 | 24 | 0.3333 | 7 | c.187 others(24): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 17/28 | chr17 | TogoVar | |||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(77): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0013 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0051 others(77): Show |
80 | 88 | 0.9091 | 7 | c.177 others(26): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134840167 | C | CAAAAAAA | intron_variant | MODIFIER | HG01346.hp1 NA18951.hp1 NA18965.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0139 a0001c0001t0001g0262 a0001c0001t0001g0263 others(9): Show |
12 | 154 | 0.0779 | 7 | c.57+ others(22): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134860856 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0027 others(33): Show |
38 | 105 | 0.3619 | 7 | c.200 others(24): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134885292 | T | TATATATA | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00558.hp1 others(165): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0010 | a0001c0001t0001a0001c0004t0001a0005c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(156): Show |
168 | 374 | 0.4492 | 7 | c.849 others(26): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54571071 | C | CTCTCTCT | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp2 HG02896.hp2 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0017 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0028 a0001c0001t0002g0187 a0001c0001t0002g0301 others(4): Show |
7 | 306 | 0.0229 | 7 | c.34- others(24): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54575113 | T | TGTAATCA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00609.hp2 others(82): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(12): Show | a0001c0001t0001g0028 a0001c0001t0002g0187 a0001c0001t0002g0301 others(80): Show |
85 | 386 | 0.2202 | 7 | c.34- others(22): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT12_chr5_81324996_81399134 | 81395918 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0041 others(63): Show |
71 | 98 | 0.7245 | 7 | c.-18 others(18): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 1785 | chr5 | TogoVar | |||||||
ACOT2_chr14_73564213_73580655 | 73576816 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 25 | 79 | 0.3165 | 7 | c.*13 others(18): Show |
ACOT2 | ENSG00000119673.16 | transcript | ENST00000238651.10 | protein_coding | 1162 | chr14 | TogoVar | |||||||
ACOT7_chr1_6259272_6398767 | 6336333 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0040 a0001c0001t0003g0171 a0001c0001t0003g0172 others(5): Show |
8 | 138 | 0.0580 | 7 | c.419 others(24): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
ACOX3_chr4_8361282_8445723 | 8361425 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01167.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 others(5): Show |
8 | 120 | 0.0667 | 7 | c.*55 others(18): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 4856 | chr4 | TogoVar | |||||||
ACOXL_chr2_110727573_111123548 | 110995499 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01175.hp2 HG01243.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(6): Show | a0001c0001t0001g0085 a0002c0002t0001g0060 a0002c0002t0001g0113 others(12): Show |
15 | 36 | 0.4167 | 7 | c.117 others(24): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01257.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0106 others(15): Show |
18 | 34 | 0.5294 | 7 | c.128 others(26): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111108371 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01175.hp1 HG01243.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 others(27): Show |
30 | 59 | 0.5085 | 7 | c.154 others(26): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp2 HG01175.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0016 | 6 | 223 | 0.0269 | 7 | c.735 others(22): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTACTTTC | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00733.hp1 others(15): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0010 a0001c0002t0002g0124 a0001c0002t0002g0131 others(15): Show |
18 | 139 | 0.1295 | 7 | c.111 others(26): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102715 | T | TTTCTTTC | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01070.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0028others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0057 others(27): Show |
30 | 151 | 0.1987 | 7 | c.111 others(26): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39103441 | G | GTGTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01257.hp1 others(8): Show |
a0001a0002 | a0001c0004a0001c0010a0002c0011 | a0001c0004t0004a0001c0004t0017a0001c0010t0004others(1): Show | a0001c0004t0004g0059 a0001c0004t0004g0076 a0001c0004t0004g0077 others(8): Show |
11 | 76 | 0.1447 | 7 | c.111 others(26): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39107578 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01070.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0011 | a0001c0001t0004a0001c0004t0004a0001c0004t0017others(2): Show | a0001c0001t0004g0310 a0001c0001t0004g0354 a0001c0004t0004g0008 others(33): Show |
37 | 215 | 0.1721 | 7 | c.125 others(24): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6181221 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01891.hp1 others(11): Show |
a0004a0007a0009others(1): Show | a0004c0003a0007c0008a0009c0013others(1): Show | a0004c0003t0001a0004c0003t0002a0007c0008t0002others(2): Show | a0004c0003t0001g0043 a0004c0003t0001g0045 a0004c0003t0001g0047 others(11): Show |
14 | 221 | 0.0633 | 7 | c.907 others(24): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6197813 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG03486.hp1 HG03516.hp2 others(1): Show |
a0003 | a0003c0004a0003c0012 | a0003c0004t0002a0003c0012t0002 | a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0010 others(1): Show |
4 | 231 | 0.0173 | 7 | c.*51 others(18): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4723 | chr19 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89147350 | G | GTGAGGGA | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp1 NA19010.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0017 | a0001c0001t0001a0002c0002t0006a0005c0017t0033 | a0001c0001t0001g0266 a0002c0002t0006g0219 a0005c0017t0033g0347 |
3 | 365 | 0.0082 | 7 | c.161 others(26): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
ACSL1_chr4_184750595_184830968 | 184785600 | C | CCGGGGGG | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 a0001c0003t0003g0029 a0001c0003t0003g0097 others(8): Show |
11 | 87 | 0.1264 | 7 | c.311 others(24): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ACSL1_chr4_184750595_184830968 | 184793165 | C | CTTTAATG | intron_variant | MODIFIER | HG01361.hp2 HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0298 |
3 | 390 | 0.0077 | 7 | c.196 others(24): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 2/20 | chr4 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222901964 | A | AAAAAATG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0025others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(70): Show |
78 | 95 | 0.8211 | 7 | c.-41 others(24): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 3/16 | chr2 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112417201 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00738.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 others(16): Show |
19 | 31 | 0.6129 | 7 | c.121 others(24): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSM1_chr16_20618235_20702680 | 20622114 | G | GTGTGTGT | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(5): Show |
8 | 198 | 0.0404 | 7 | c.*13 others(18): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1120 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01106.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0137 others(8): Show |
11 | 38 | 0.2895 | 7 | c.162 others(24): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAC | intron_variant | MODIFIER | HG02074.hp2 HG02486.hp1 HG03130.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0007others(4): Show | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 others(13): Show |
17 | 173 | 0.0983 | 7 | c.-8- others(22): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566700 | A | ATATATAG | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0007a0003c0008 | a0001c0001t0001a0003c0007t0014a0003c0008t0001others(1): Show | a0001c0001t0001g0026 a0003c0007t0014g0331 a0003c0007t0014g0332 others(4): Show |
9 | 165 | 0.0545 | 7 | c.-8- others(22): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20432847 | C | CTTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01175.hp1 others(23): Show |
a0001a0005 | a0001c0001a0001c0021a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0036 others(15): Show |
26 | 143 | 0.1818 | 7 | c.130 others(26): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSS3_chr12_81073079_81266210 | 81251670 | A | AAAAAAAG | intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0023a0001c0002t0002 | a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 others(13): Show |
16 | 288 | 0.0556 | 7 | c.172 others(26): Show |
ACSS3 | ENSG00000111058.8 | transcript | ENST00000548058.6 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACTN1_chr14_68869128_68984302 | 68899465 | A | ACAGCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01243.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 others(31): Show |
34 | 282 | 0.1206 | 7 | c.762 others(24): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 8/21 | chr14 | TogoVar | |||||||
ACTN1_chr14_68869128_68984302 | 68978899 | C | CGGGGCTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00738.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(1): Show | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(9): Show |
12 | 241 | 0.0498 | 7 | c.105 others(20): Show |
ACTN1 | ENSG00000072110.16 | transcript | ENST00000394419.9 | protein_coding | 1/21 | chr14 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236686571 | G | GCGCCCGC | 5_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01168.hp2 others(21): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0006a0001c0001t0015a0001c0001t0017others(11): Show | a0001c0001t0006g0134 a0001c0001t0015g0117 a0001c0001t0017g0098 others(21): Show |
24 | 340 | 0.0706 | 7 | c.-84 others(14): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/21 | 77 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236721006 | C | CTGGTTTT | intron_variant | MODIFIER | HG01243.hp2 HG03195.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0002a0001c0004t0005 | a0001c0001t0004g0103 a0001c0004t0002g0063 a0001c0004t0002g0066 others(1): Show |
4 | 342 | 0.0117 | 7 | c.448 others(22): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236732425 | C | CTTTTTAT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(150): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0042 a0001c0001t0001g0137 a0001c0001t0001g0139 others(150): Show |
153 | 342 | 0.4474 | 7 | c.697 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236742285 | T | TGGGAACG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(82): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0032 others(82): Show |
85 | 342 | 0.2485 | 7 | c.110 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236755631 | A | AATAGAGT | intron_variant | MODIFIER | HG02080.hp2 HG03195.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0008 | a0001c0001t0011a0002c0005t0004a0002c0008t0004 | a0001c0001t0011g0074 a0001c0001t0011g0091 a0002c0005t0004g0010 others(3): Show |
6 | 331 | 0.0181 | 7 | c.215 others(24): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236765675 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(76): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0018a0001c0002t0002others(12): Show | a0001c0001t0002g0154 a0001c0001t0018g0089 a0001c0001t0018g0307 others(76): Show |
79 | 337 | 0.2344 | 7 | c.*30 others(18): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1045 | chr1 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65225849 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01074.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0029 others(42): Show |
56 | 257 | 0.2179 | 7 | c.-20 others(18): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1981 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65267862 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(2): Show | a0001c0001t0002g0039 a0001c0001t0002g0069 a0001c0001t0002g0255 others(14): Show |
23 | 41 | 0.5610 | 7 | c.101 others(24): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152785512 | G | GAGAGAGA | intron_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01109.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(32): Show |
36 | 307 | 0.1173 | 7 | c.100 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152789043 | A | ATAAACAG | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01952.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0006a0002c0006t0001 | a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 others(14): Show |
17 | 307 | 0.0554 | 7 | c.100 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | chr7 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152789046 | A | ACAAACAG | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0005 a0001c0001t0001g0220 a0001c0001t0001g0221 others(11): Show |
15 | 301 | 0.0498 | 7 | c.100 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152812019 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0201 others(19): Show |
22 | 39 | 0.5641 | 7 | c.337 others(24): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3_chr2_113885089_113967596 | 113914199 | A | ATAGGAAT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(172): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(163): Show |
175 | 388 | 0.4510 | 7 | c.100 others(22): Show |
ACTR3 | ENSG00000115091.12 | transcript | ENST00000263238.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR5_chr20_38743460_38777520 | 38770922 | A | AGGGAGGT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01255.hp2 others(22): Show |
a0002a0005 | a0002c0003a0005c0006 | a0002c0003t0003a0002c0003t0004a0002c0003t0005others(2): Show | a0002c0003t0003g0005 a0002c0003t0003g0050 a0002c0003t0003g0127 others(9): Show |
25 | 364 | 0.0687 | 7 | c.156 others(24): Show |
ACTR5 | ENSG00000101442.10 | transcript | ENST00000243903.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ACTR8_chr3_53862066_53887152 | 53863794 | T | TGAGGTTA | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02735.hp1 NA18747.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0003g0004 |
12 | 430 | 0.0279 | 7 | c.*49 others(18): Show |
ACTR8 | ENSG00000113812.14 | transcript | ENST00000335754.8 | protein_coding | 3271 | chr3 | TogoVar |