| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TIAM2_chr6_154990315_155262723 | 154991201 | GGGTAGAT others(1830): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01175.hp1 HG01433.hp1 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0014a0001c0018t0007 | a0001c0001t0014g0228 a0001c0018t0007g0220 a0001c0018t0007g0221 |
3 | 228 | 0.0132 | -1837 | c.-44 others(11): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 4113 | chr6 | TogoVar | |||||||
| C2CD6_chr2_201482421_201624178 | 201502901 | TTTTTTTT others(1829): Show |
T | intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0248 | 1 | 268 | 0.0037 | -1836 | c.150 others(19): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
| FAM90A16_chr8_7725739_7738749 | 7726106 | GCAGGTGG others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0012 | 1 | 70 | 0.0143 | -1836 | c.-46 others(11): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 4632 | chr8 | TogoVar | |||||||
| FAM90A16_chr8_7725739_7738749 | 7733754 | GCAGGTGG others(1829): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0012 | 1 | 70 | 0.0143 | -1836 | c.*6_ others(8): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 6 | chr8 | TogoVar | |||||||
| FAM90A19_chr8_7748682_7761692 | 7749049 | GCAGGTGG others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 | a0022 | a0022c0024 | a0022c0024t0001 | a0022c0024t0001g0019 | 1 | 116 | 0.0086 | -1836 | c.-46 others(11): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 4632 | chr8 | TogoVar | |||||||
| FAM90A19_chr8_7748682_7761692 | 7756697 | GCAGGTGG others(1829): Show |
G | downstream_gene_variant | MODIFIER | HG01981.hp2 | a0022 | a0022c0024 | a0022c0024t0001 | a0022c0024t0001g0019 | 1 | 116 | 0.0086 | -1836 | c.*6_ others(8): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 6 | chr8 | TogoVar | |||||||
| FAM90A22_chr8_7566995_7580006 | 7570151 | GTGTTAGC others(1829): Show |
G | downstream_gene_variant | MODIFIER | NA18940.hp2 NA19084.hp1 |
a0016 | a0016c0013 | a0016c0013t0001 | a0016c0013t0001g0005 | 2 | 88 | 0.0227 | -1836 | c.*8_ others(8): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 1843 | chr8 | TogoVar | |||||||
| FAM90A22_chr8_7566995_7580006 | 7577800 | GTGTTAGC others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02080.hp1 NA18747.hp2 others(11): Show |
a0002a0016a0028others(1): Show | a0002c0001a0016c0013a0028c0025others(1): Show | a0002c0001t0001a0016c0013t0001a0028c0025t0001others(1): Show | a0002c0001t0001g0001 a0002c0001t0001g0017 a0016c0013t0001g0005 others(2): Show |
14 | 88 | 0.1591 | -1836 | c.-46 others(11): Show |
FAM90A22 | ENSG00000285687.1 | transcript | ENST00000648590.1 | protein_coding | 2795 | chr8 | TogoVar | |||||||
| FAM90A23_chr8_7574644_7587653 | 7577800 | GTGTTAGC others(1829): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp2 HG01361.hp1 HG01515.hp1 others(16): Show |
a0003a0006a0018others(3): Show | a0003c0004a0003c0025a0006c0007others(4): Show | a0003c0004t0001a0003c0025t0001a0006c0007t0001others(4): Show | a0003c0004t0001g0004 a0003c0004t0001g0010 a0003c0004t0001g0027 others(8): Show |
19 | 142 | 0.1338 | -1836 | c.*8_ others(8): Show |
FAM90A23 | ENSG00000285765.1 | transcript | ENST00000648435.1 | protein_coding | 1843 | chr8 | TogoVar | |||||||
| FAM90A9_chr8_7756330_7769340 | 7756697 | GCAGGTGG others(1829): Show |
G | upstream_gene_variant | MODIFIER | HG01981.hp2 HG02080.hp2 NA18962.hp2 |
a0007a0009a0010 | a0007c0006a0009c0009a0010c0011 | a0007c0006t0001a0009c0009t0001a0010c0011t0001 | a0007c0006t0001g0006 a0009c0009t0001g0002 a0010c0011t0001g0010 |
3 | 92 | 0.0326 | -1836 | c.-46 others(11): Show |
FAM90A9 | ENSG00000285607.1 | transcript | ENST00000648344.1 | protein_coding | 4632 | chr8 | TogoVar | |||||||
| RBFOX1_chr16_7327845_7718340 | 7371856 | GTGTGACT others(1829): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0160 a0001c0001t0040g0131 |
2 | 232 | 0.0086 | -1836 | c.87+ others(17): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RMND5B_chr5_178126014_178155568 | 178132058 | ATTCCAGC others(1829): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 410 | 0.0024 | -1836 | c.-13 others(16): Show |
RMND5B | ENSG00000145916.19 | transcript | ENST00000313386.9 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
| GPR141_chr7_37678766_37748835 | 37747001 | CCGCTCCC others(1827): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 398 | 0.0025 | -1834 | c.*56 others(11): Show |
GPR141 | ENSG00000187037.9 | transcript | ENST00000334425.2 | protein_coding | 3167 | chr7 | TogoVar | |||||||
| YIPF1_chr1_53846733_53894797 | 53885848 | AGAGTATA others(1827): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 a0001c0001t0003g0169 a0001c0001t0003g0170 |
4 | 358 | 0.0112 | -1834 | c.31+ others(15): Show |
YIPF1 | ENSG00000058799.15 | transcript | ENST00000072644.7 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
| PRODH_chr22_18907781_18941293 | 18939460 | ATGATGAA others(1826): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp2 others(13): Show |
a0001a0003a0010others(3): Show | a0001c0009a0003c0003a0003c0026others(4): Show | a0001c0009t0001a0003c0003t0001a0003c0026t0001others(4): Show | a0001c0009t0001g0004 a0003c0003t0001g0201 a0003c0026t0001g0042 others(6): Show |
16 | 398 | 0.0402 | -1833 | c.-50 others(11): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 3168 | chr22 | TogoVar | |||||||
| UNC13B_chr9_35157009_35410335 | 35372683 | GTGCAAGA others(1826): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 222 | 0.0045 | -1833 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PPP1R15B_chr1_204398381_204416817 | 204413660 | TGAGACGA others(1825): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 351 | 0.0028 | -1832 | c.-40 others(11): Show |
PPP1R15B | ENSG00000158615.10 | transcript | ENST00000367188.5 | protein_coding | 1844 | chr1 | TogoVar | |||||||
| DLG2_chr11_83450173_85632344 | 85537506 | AGGGATGA others(1823): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 14 | 0.0714 | -1830 | c.40+ others(17): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 3/27 | chr11 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 320432 | TCAGAGAT others(1823): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02818.hp1 others(4): Show |
a0001a0002a0005others(3): Show | a0001c0029a0002c0076a0005c0144others(4): Show | a0001c0029t0001a0002c0076t0003a0005c0144t0004others(4): Show | a0001c0029t0001g0065 a0002c0076t0003g0085 a0005c0144t0004g0028 others(4): Show |
7 | 172 | 0.0407 | -1830 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| OSBPL9_chr1_51612092_51794219 | 51628704 | GATGGAGC others(1823): Show |
G | intron_variant | MODIFIER | HG01928.hp2 HG02004.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0016 | a0001c0001t0011g0157 a0001c0001t0011g0158 a0001c0001t0016g0156 |
3 | 184 | 0.0163 | -1830 | c.111 others(19): Show |
OSBPL9 | ENSG00000117859.19 | transcript | ENST00000428468.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| VPS13B_chr8_99008274_99882580 | 99201967 | CATAGAGT others(1823): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 132 | 0.0076 | -1830 | c.251 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77551875 | CATGCCTG others(1822): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02165.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0002 | a0001c0001t0007g0207 a0001c0002t0002g0171 |
2 | 238 | 0.0084 | -1829 | c.125 others(19): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
| RIPK1_chr6_3063494_3120187 | 3092032 | AGCGCCTA others(1822): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 212 | 0.0047 | -1829 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79893712 | CCATTCAC others(1821): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 310 | 0.0032 | -1828 | c.625 others(17): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KATNA1_chr6_149589873_149653714 | 149626535 | GCCTCCCA others(1820): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(1): Show |
4 | 296 | 0.0135 | -1827 | c.320 others(17): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 3/10 | chr6 | TogoVar | |||||||
| KCNB2_chr8_72532225_72943349 | 72660159 | AGCCTCTT others(1820): Show |
A | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 164 | 0.0061 | -1827 | c.579 others(19): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SMIM36_chr17_55444856_55516452 | 55500749 | TTCACTTA others(1820): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 338 | 0.0030 | -1827 | c.*17 others(20): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
| ACSM2B_chr16_20531226_20581367 | 20559950 | TCACTTTA others(1819): Show |
T | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 HG03927.hp2 |
a0009 | a0009c0015 | a0009c0015t0008 | a0009c0015t0008g0040 a0009c0015t0008g0319 |
3 | 386 | 0.0078 | -1826 | c.178 others(16): Show |
ACSM2B | ENSG00000066813.14 | transcript | ENST00000329697.10 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
| FAF1_chr1_50432028_50965267 | 50662751 | GCAGCGGC others(1819): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0041 | a0001c0001t0012g0002 a0001c0001t0012g0007 a0001c0001t0012g0011 others(2): Show |
5 | 188 | 0.0266 | -1826 | c.658 others(17): Show |
FAF1 | ENSG00000185104.21 | transcript | ENST00000396153.7 | protein_coding | 7/18 | chr1 | TogoVar | |||||||
| NXN_chr17_794310_984776 | 940884 | AACACCTT others(1817): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 a0001c0001t0003g0070 |
2 | 204 | 0.0098 | -1824 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| LRSAM1_chr9_127446510_127508499 | 127469920 | GCGCCACT others(1815): Show |
G | intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 338 | 0.0030 | -1822 | c.619 others(17): Show |
LRSAM1 | ENSG00000148356.15 | transcript | ENST00000300417.11 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| GNAL_chr18_11684264_11890685 | 11865090 | TTCCCCCG others(1814): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02630.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0003a0001c0001t0012a0001c0001t0022others(14): Show | a0001c0001t0003g0043 a0001c0001t0012g0244 a0001c0001t0012g0245 others(17): Show |
20 | 246 | 0.0813 | -1821 | c.851 others(15): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 7/11 | chr18 | TogoVar | |||||||
| GNAL_chr18_11747085_11890685 | 11865090 | TTCCCCCG others(1814): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG02630.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0020others(14): Show | a0001c0001t0003g0264 a0001c0001t0009g0224 a0001c0001t0020g0070 others(17): Show |
20 | 282 | 0.0709 | -1821 | c.620 others(15): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 7/11 | chr18 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744702 | GGGGGTCG others(1814): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02647.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0063a0001c0004t0020 | a0001c0001t0003g0305 a0001c0001t0063g0064 a0001c0004t0020g0250 others(1): Show |
4 | 344 | 0.0116 | -1821 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744724 | TTCGCCGT others(1814): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0258 a0001c0001t0012g0259 a0001c0001t0012g0285 |
3 | 144 | 0.0208 | -1821 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(1813): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02723.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0023others(2): Show | a0001c0001t0001g0086 a0002c0002t0001g0046 a0002c0002t0023g0057 others(3): Show |
6 | 107 | 0.0561 | -1820 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| BCL2L14_chr12_12065939_12104695 | 12099893 | CGGTATAA others(1811): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01167.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0268 a0001c0002t0001g0006 a0001c0002t0001g0015 others(24): Show |
33 | 452 | 0.0730 | -1818 | c.*90 others(10): Show |
BCL2L14 | ENSG00000121380.12 | transcript | ENST00000308721.9 | protein_coding | 199 | chr12 | TogoVar | |||||||
| SERHL2_chr22_42548956_42579382 | 42571529 | GATTCTCC others(1811): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG01109.hp2 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0186 | 1 | 430 | 0.0023 | -1818 | c.731 others(15): Show |
SERHL2 | ENSG00000183569.18 | transcript | ENST00000327678.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TIGIT_chr3_114289028_114315288 | 114291658 | CAGATCCC others(1811): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0217 | 1 | 422 | 0.0024 | -1818 | c.-24 others(10): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 2369 | chr3 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132231725 | CGTGGAGT others(1810): Show |
C | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0006a0001c0019 | a0001c0006t0001a0001c0019t0003 | a0001c0006t0001g0073 a0001c0006t0001g0078 a0001c0006t0001g0142 others(1): Show |
4 | 179 | 0.0223 | -1817 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| PSG5_chr19_43162743_43191536 | 43163021 | TAATTATG others(1810): Show |
T | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0018 | a0009c0018t0003 | a0009c0018t0003g0097 | 1 | 428 | 0.0023 | -1817 | c.*34 others(11): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 4721 | chr19 | TogoVar | |||||||
| RAD21L1_chr20_1221044_1260876 | 1258454 | TAACTGAT others(1809): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02630.hp1 |
a0008 | a0008c0009 | a0008c0009t0004 | a0008c0009t0004g0050 a0008c0009t0004g0051 |
2 | 362 | 0.0055 | -1816 | c.*39 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2579 | chr20 | TogoVar | |||||||
| IFIH1_chr2_162262074_162323684 | 162321869 | GAAAAATT others(1808): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0018 | 2 | 218 | 0.0092 | -1815 | c.-53 others(11): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 3186 | chr2 | TogoVar | |||||||
| URI1_chr19_29937239_30021612 | 29988192 | AGCTCTTT others(1808): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 326 | 0.0031 | -1815 | c.367 others(17): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 4/10 | chr19 | TogoVar | |||||||
| BCL2L13_chr22_17633757_17735855 | 17641989 | CGGGGTTT others(1807): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 a0001c0001t0002g0115 |
2 | 303 | 0.0066 | -1814 | c.-51 others(17): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639521 | GAGGATGT others(1806): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0139 | 1 | 221 | 0.0045 | -1813 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639560 | GTGTCCCA others(1806): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 221 | 0.0045 | -1813 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 258389 | CCTGCCAG others(1806): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01168.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 a0002c0003t0003g0103 |
3 | 264 | 0.0114 | -1813 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1308 | chr5 | TogoVar | |||||||
| HACL1_chr3_15555699_15606569 | 15594051 | GGCCTCCC others(1805): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 426 | 0.0023 | -1812 | c.227 others(16): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 3/16 | chr3 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637996 | GTGTCCCA others(1804): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 221 | 0.0045 | -1811 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar |