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 | 110988857 | T | TTGTGTG | intron_variant | MODIFIER | HG01081.hp1 HG02080.hp1 HG02080.hp2 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0067 a0002c0002t0001g0101 others(4): Show |
7 | 22 | 0.3182 | 6 | c.116 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111003550 | C | CAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG02109.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0108 others(11): Show |
14 | 30 | 0.4667 | 6 | c.128 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111096224 | A | AATTATT | intron_variant | MODIFIER | HG00544.hp2 HG01258.hp1 HG01981.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0052 others(17): Show |
20 | 80 | 0.2500 | 6 | c.154 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111108371 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0020 others(32): Show |
35 | 64 | 0.5469 | 6 | c.154 others(25): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACOXL_chr2_110727573_111123548 | 111120979 | T | TGCCGCC | downstream_gene_variant | MODIFIER | HG01496.hp1 NA18974.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0024 a0003c0004t0001g0063 |
2 | 17 | 0.1176 | 6 | c.*31 others(17): Show |
ACOXL | ENSG00000153093.21 | transcript | ENST00000439055.6 | protein_coding | 2432 | chr2 | TogoVar | |||||||
ACP2_chr11_47234302_47253814 | 47245857 | C | CGTGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01433.hp2 others(13): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 a0001c0003t0003g0024 |
16 | 141 | 0.1135 | 6 | c.298 others(19): Show |
ACP2 | ENSG00000134575.13 | transcript | ENST00000672073.1 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
ACP3_chr3_132312407_132363841 | 132328679 | C | CAAAAAA | intron_variant | MODIFIER | NA18945.hp1 NA18946.hp1 NA18950.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0013 | a0001c0001t0002g0006 a0001c0001t0006g0006 a0001c0001t0006g0206 others(3): Show |
8 | 193 | 0.0415 | 6 | c.216 others(21): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP3_chr3_132312407_132363841 | 132347844 | T | TACACAC | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0029a0001c0003t0005 | a0001c0001t0008g0159 a0001c0001t0029g0276 a0001c0001t0029g0294 others(19): Show |
26 | 167 | 0.1557 | 6 | c.782 others(23): Show |
ACP3 | ENSG00000014257.17 | transcript | ENST00000336375.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACP5_chr19_11569660_11582645 | 11576006 | C | CAAAAAA | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG01975.hp2 others(18): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0006 | a0002c0003t0001a0002c0005t0001a0004c0006t0001 | a0002c0003t0001g0004 a0002c0003t0001g0079 a0002c0005t0001g0020 others(2): Show |
21 | 238 | 0.0882 | 6 | c.735 others(21): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ACP7_chr19_39079368_39116493 | 39097399 | C | CAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01192.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0008 | a0001c0002t0005a0001c0004t0004a0001c0004t0005others(2): Show | a0001c0002t0005g0042 a0001c0002t0005g0239 a0001c0004t0004g0050 others(7): Show |
10 | 316 | 0.0316 | 6 | c.122 others(23): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102118 | T | TCACACA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00735.hp1 others(21): Show |
a0001 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0002a0001c0002t0005a0001c0004t0004others(5): Show | a0001c0002t0002g0130 a0001c0002t0002g0140 a0001c0002t0002g0171 others(20): Show |
24 | 229 | 0.1048 | 6 | c.111 others(23): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102120 | T | TCACACA | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02897.hp1 others(6): Show |
a0001a0004 | a0001c0003a0001c0005a0001c0007others(1): Show | a0001c0003t0003a0001c0003t0006a0001c0003t0019others(3): Show | a0001c0003t0003g0270 a0001c0003t0006g0372 a0001c0003t0019g0021 others(6): Show |
9 | 38 | 0.2368 | 6 | c.111 others(23): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39102767 | C | CTTTCTT | intron_variant | MODIFIER | HG00140.hp2 HG01257.hp1 HG01258.hp1 others(11): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0008others(2): Show | a0001c0004t0004a0001c0004t0005a0001c0004t0009others(6): Show | a0001c0004t0004g0045 a0001c0004t0004g0050 a0001c0004t0004g0053 others(11): Show |
14 | 342 | 0.0409 | 6 | c.111 others(25): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACP7_chr19_39079368_39116493 | 39103441 | G | GTGTTTT | intron_variant | MODIFIER | HG00621.hp1 HG01081.hp1 HG01099.hp2 others(18): Show |
a0001a0006 | a0001c0004a0001c0006a0006c0015 | a0001c0004t0002a0001c0004t0004a0001c0004t0005others(4): Show | a0001c0004t0002g0194 a0001c0004t0004g0050 a0001c0004t0004g0051 others(18): Show |
21 | 86 | 0.2442 | 6 | c.111 others(25): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACRV1_chr11_125666522_125685847 | 125678978 | T | TTATATA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00621.hp2 others(25): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(4): Show |
28 | 87 | 0.3218 | 6 | c.53- others(19): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78179815 | T | TCACACA | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01255.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0086 others(8): Show |
11 | 77 | 0.1429 | 6 | c.125 others(21): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 9/13 | chr15 | TogoVar | |||||||
ACSBG1_chr15_78162468_78239565 | 78235958 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG02027.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0013others(8): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(15): Show | a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0125 others(41): Show |
44 | 60 | 0.7333 | 6 | c.-14 others(17): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1394 | chr15 | TogoVar | |||||||
ACSBG2_chr19_6130667_6198091 | 6154402 | A | AAGAGAG | intron_variant | MODIFIER | HG01433.hp1 HG02559.hp1 HG03579.hp1 |
a0003a0006 | a0003c0004a0003c0005a0006c0006 | a0003c0004t0002a0003c0005t0001a0006c0006t0001 | a0003c0004t0002g0131 a0003c0005t0001g0133 a0006c0006t0001g0023 |
3 | 138 | 0.0217 | 6 | c.387 others(23): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6166280 | T | TTGTGTG | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp1 HG01071.hp2 others(17): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0017a0002c0002others(3): Show | a0001c0001t0001a0001c0017t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0225 a0001c0017t0001g0240 a0002c0002t0001g0042 others(17): Show |
20 | 56 | 0.3571 | 6 | c.738 others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6190790 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG02083.hp1 HG02165.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0197 a0001c0001t0001g0214 a0001c0001t0001g0217 others(8): Show |
11 | 260 | 0.0423 | 6 | c.*35 others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6190812 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp1 HG00673.hp1 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0115 |
3 | 32 | 0.0938 | 6 | c.*35 others(21): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ACSBG2_chr19_6130667_6198091 | 6197813 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02559.hp1 others(4): Show |
a0003 | a0003c0004a0003c0012 | a0003c0004t0002a0003c0012t0002 | a0003c0004t0002g0006 a0003c0004t0002g0009 a0003c0004t0002g0011 others(4): Show |
7 | 234 | 0.0299 | 6 | c.*51 others(17): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 4723 | chr19 | TogoVar | |||||||
ACSF2_chr17_50421218_50479837 | 50428489 | T | TAAATAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(162): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0158 a0001c0001t0001g0169 a0001c0001t0001g0228 others(137): Show |
165 | 318 | 0.5189 | 6 | c.128 others(23): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50436097 | T | TTTGTTG | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 a0001c0002t0002g0241 a0001c0002t0002g0242 |
5 | 302 | 0.0166 | 6 | c.128 others(23): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50444636 | A | AACACAC | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG02055.hp1 others(4): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0002a0003c0005t0002 | a0001c0002t0002g0010 a0001c0002t0002g0173 a0001c0002t0002g0241 others(2): Show |
7 | 160 | 0.0438 | 6 | c.129 others(25): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSF2_chr17_50421218_50479837 | 50461927 | G | GGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00642.hp1 others(37): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0001c0002t0002a0004c0006t0001others(1): Show | a0001c0002t0001g0189 a0001c0002t0002g0005 a0001c0002t0002g0011 others(31): Show |
40 | 167 | 0.2395 | 6 | c.508 others(21): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89125698 | A | AAGAGAG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0014a0003c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(24): Show | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 others(126): Show |
139 | 216 | 0.6435 | 6 | c.123 others(25): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSL1_chr4_184750595_184830968 | 184769070 | A | AATATAT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(11): Show |
a0001a0003 | a0001c0002a0001c0009a0003c0012 | a0001c0002t0002a0001c0009t0002a0003c0012t0002 | a0001c0002t0002g0005 a0001c0002t0002g0049 a0001c0002t0002g0054 others(10): Show |
14 | 20 | 0.7000 | 6 | c.994 others(21): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 11/20 | chr4 | TogoVar | |||||||
ACSL1_chr4_184750595_184830968 | 184785600 | C | CCGGGGG | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01070.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003a0001c0003t0013 | a0001c0001t0002g0364 a0001c0003t0003g0021 a0001c0003t0003g0094 others(10): Show |
13 | 89 | 0.1461 | 6 | c.311 others(23): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
ACSL1_chr4_184750595_184830968 | 184820035 | A | AACAGGC | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(1): Show | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0222 others(4): Show |
8 | 390 | 0.0205 | 6 | c.-33 others(23): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222865794 | C | CTGTGTG | intron_variant | MODIFIER | HG00280.hp2 HG01346.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0131 |
3 | 19 | 0.1579 | 6 | c.-20 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222882761 | G | GTTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG01358.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0015 | a0001c0001t0002g0124 a0001c0001t0002g0147 a0001c0001t0002g0149 others(5): Show |
8 | 25 | 0.3200 | 6 | c.-20 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACSL3_chr2_222856036_222949639 | 222897913 | A | AGAGGGG | intron_variant | MODIFIER | HG00280.hp2 HG01346.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0125 a0001c0001t0006g0128 a0001c0001t0006g0129 others(2): Show |
5 | 250 | 0.0200 | 6 | c.-14 others(25): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACSL4_chrX_109636335_109738257 | 109727657 | T | TTGTGTG | intron_variant | MODIFIER | HG02735.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | 18 | 0.1111 | 6 | c.-66 others(23): Show |
ACSL4 | ENSG00000068366.21 | transcript | ENST00000672401.1 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112417201 | T | TAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00609.hp2 others(91): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0010t0001 | a0001c0001t0001g0006 a0001c0001t0001g0112 a0001c0001t0001g0165 others(88): Show |
94 | 106 | 0.8868 | 6 | c.121 others(23): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL5_chr10_112369116_112433376 | 112419102 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0133 others(18): Show |
21 | 85 | 0.2471 | 6 | c.131 others(25): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACSL6_chr5_131944973_132016658 | 131967668 | T | TTAATAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(70): Show |
93 | 193 | 0.4819 | 6 | c.159 others(23): Show |
ACSL6 | ENSG00000164398.15 | transcript | ENST00000651883.2 | protein_coding | 16/20 | chr5 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20627869 | C | CATACAT | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 a0001c0001t0002g0075 a0001c0001t0002g0152 others(4): Show |
7 | 72 | 0.0972 | 6 | c.130 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 10/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20669441 | A | AACACAC | intron_variant | MODIFIER | HG02572.hp1 NA19054.hp1 NA19070.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0158 a0001c0001t0002g0183 others(1): Show |
4 | 97 | 0.0412 | 6 | c.912 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 6/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20671440 | G | GACACAC | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp2 HG02080.hp2 others(1): Show |
a0001a0010 | a0001c0001a0010c0015 | a0001c0001t0002a0010c0015t0002 | a0001c0001t0002g0172 a0001c0001t0002g0212 a0001c0001t0002g0235 others(1): Show |
4 | 94 | 0.0426 | 6 | c.752 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 5/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20691751 | A | ATGTGTG | intron_variant | MODIFIER | HG02135.hp1 HG02258.hp1 HG02683.hp1 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0002g0034 a0001c0001t0002g0103 a0001c0001t0002g0152 others(8): Show |
11 | 55 | 0.2000 | 6 | c.-51 others(21): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20695109 | G | GATTCTA | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0206 others(6): Show |
9 | 316 | 0.0285 | 6 | c.-52 others(23): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM1_chr16_20618235_20702680 | 20697556 | T | TACACAC | intron_variant | MODIFIER | HG00621.hp1 HG02056.hp2 HG02132.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 others(9): Show |
12 | 36 | 0.3333 | 6 | c.-52 others(19): Show |
ACSM1 | ENSG00000166743.10 | transcript | ENST00000520010.6 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2A_chr16_20446521_20492669 | 20458905 | C | CATATAT | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG01106.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0027a0008c0008t0001 | a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0027g0141 others(1): Show |
4 | 347 | 0.0115 | 6 | c.-8- others(21): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20483569 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0005c0005t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0042 a0001c0001t0001g0092 others(10): Show |
16 | 43 | 0.3721 | 6 | c.162 others(23): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSM2A_chr16_20446521_20492669 | 20488494 | C | CAGAGAG | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp1 others(17): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0003c0010others(7): Show | a0001c0001t0006a0003c0003t0007a0003c0010t0006others(7): Show | a0001c0001t0006g0091 a0003c0003t0007g0257 a0003c0010t0006g0152 others(15): Show |
20 | 317 | 0.0631 | 6 | c.*18 others(17): Show |
ACSM2A | ENSG00000183747.12 | transcript | ENST00000573854.6 | protein_coding | 826 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20535485 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG00735.hp1 others(30): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(10): Show | a0001c0001t0001g0203 a0001c0002t0002g0118 a0001c0002t0002g0221 others(28): Show |
33 | 103 | 0.3204 | 6 | c.*17 others(17): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 740 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTATATA | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp1 others(22): Show |
a0001a0005a0009 | a0001c0002a0001c0006a0005c0011others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(5): Show | a0001c0002t0002g0008 a0001c0002t0002g0032 a0001c0002t0002g0232 others(18): Show |
25 | 58 | 0.4310 | 6 | c.-8- others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM2B_chr16_20531226_20581367 | 20566247 | T | TTTTATA | intron_variant | MODIFIER | HG01891.hp2 HG01975.hp2 HG02976.hp2 others(2): Show |
a0002 | a0002c0003a0002c0018 | a0002c0003t0005a0002c0018t0005 | a0002c0003t0005g0050 a0002c0003t0005g0053 a0002c0003t0005g0059 others(2): Show |
5 | 38 | 0.1316 | 6 | c.-8- others(21): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
ACSM5_chr16_20404534_20446336 | 20418259 | C | CATGCGG | disruptive_inframe_insertion others(1): Show |
MODERATE | NA18978.hp1 NA18978.hp2 NA19090.hp2 |
a0012 | a0012c0019a0012c0040 | a0012c0019t0001a0012c0019t0018a0012c0040t0003 | a0012c0019t0001g0222 a0012c0019t0018g0148 a0012c0040t0003g0149 |
3 | 432 | 0.0069 | 6 | c.407 others(13): Show |
p.Met others(13): Show |
ACSM5 | ENSG00000183549.10 | transcript | ENST00000331849.8 | protein_coding | 3/14 | 560/2796 | 413/1740 | 138/579 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |