| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GNA14_chr9_77418079_77653322 | 77616901 | ACTCTGTC others(1757): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0162a0001c0001t0003g0161 | 2 | 240 | 0.0083 | -1764 | c.124 others(19): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744756 | CCCGGGGG others(1757): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA18979.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0061 | a0001c0001t0001g0219a0001c0001t0001g0226a0001c0001t0061g0006 | 3 | 366 | 0.0082 | -1764 | 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 | 744759 | GGGGGTCG others(1757): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025a0001c0001t0052 | a0001c0001t0002g0172a0001c0001t0025g0116a0001c0001t0052g0037 | 3 | 366 | 0.0082 | -1764 | 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 | 744873 | CGGGGTCG others(1757): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0288a0001c0001t0019g0356 | 2 | 366 | 0.0055 | -1764 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745215 | GGGGTCGC others(1757): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0302 | 1 | 366 | 0.0027 | -1764 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TAF11L10_chr5_17592232_17602828 | 17599621 | TGAGGTGA others(1757): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 1 | 352 | 0.0028 | -1764 | c.-35 others(11): Show |
TAF11L10 | ENSG00000284356.1 | transcript | ENST00000638842.1 | protein_coding | 1794 | chr5 | TogoVar | ||||||
| ZNF208_chr19_21961095_22015943 | 21971662 | CGTACTAA others(1757): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0027 | a0027c0030 | a0027c0030t0001 | a0027c0030t0001g0170 | 1 | 404 | 0.0025 | -1764 | c.160 others(9): Show |
p.Phe others(14): Show |
ZNF208 | ENSG00000160321.16 | transcript | ENST00000397126.9 | protein_coding | 4/4 | 3520/9088 | 1608/3843 | 536/1280 | chr19 | TogoVar | ||
| SLC13A4_chr7_135676231_135733186 | 135678137 | TGGAAGTT others(1756): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0233 | 1 | 372 | 0.0027 | -1763 | c.*16 others(11): Show |
SLC13A4 | ENSG00000164707.16 | transcript | ENST00000682651.1 | protein_coding | 3093 | chr7 | TogoVar | ||||||
| STK19_chr6_31967363_31986446 | 31984683 | GCACAGAC others(1756): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01069.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0053a0001c0001t0001g0141others(5): Show | 13 | 433 | 0.0300 | -1763 | c.*36 others(11): Show |
STK19 | ENSG00000204344.16 | transcript | ENST00000685781.1 | protein_coding | 3238 | chr6 | TogoVar | ||||||
| STMP1_chr7_135657514_135681416 | 135678137 | TGGAAGTT others(1756): Show |
T | downstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0066 | 1 | 392 | 0.0026 | -1763 | c.*39 others(11): Show |
STMP1 | ENSG00000243317.8 | transcript | ENST00000507606.3 | protein_coding | 1722 | chr7 | TogoVar | ||||||
| PEAK1_chr15_77103158_77425104 | 77296279 | TGCCCTGA others(1755): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0024a0001c0001t0040others(1): Show | a0001c0001t0023g0313a0001c0001t0023g0316a0001c0001t0024g0317others(2): Show | 5 | 326 | 0.0153 | -1762 | c.-60 others(20): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392936 | CAGGTGGT others(1755): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01261.hp1 others(13): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(13): Show | a0001c0001t0002g0216a0001c0001t0006g0309a0001c0001t0014g0161others(13): Show | 16 | 346 | 0.0462 | -1762 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392982 | CAGGTGGT others(1755): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0284 | 1 | 346 | 0.0029 | -1762 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280403 | AGAGGGAG others(1754): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 50 | 0.0200 | -1761 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1753): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0169 | 1 | 236 | 0.0042 | -1760 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1753): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02622.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0004t0001others(2): Show | a0001c0001t0002g0049a0001c0001t0003g0214a0001c0004t0001g0007others(2): Show | 5 | 236 | 0.0212 | -1760 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394983 | CGTCCTCC others(1753): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01256.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0002g0083a0001c0001t0002g0189a0001c0001t0003g0067others(5): Show | 8 | 236 | 0.0339 | -1760 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| TRIM9_chr14_50970266_51100105 | 50971537 | CAGTCCAA others(1753): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 342 | 0.0029 | -1760 | c.*39 others(11): Show |
TRIM9 | ENSG00000100505.14 | transcript | ENST00000684578.1 | protein_coding | 3728 | chr14 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 259698 | CAGCATTA others(1752): Show |
C | downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 266 | 0.0038 | -1759 | c.*32 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2617 | chr5 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79919815 | ACGGGAAC others(1752): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0291 | 1 | 352 | 0.0028 | -1759 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| EPB41_chr1_28909569_29125041 | 28977939 | GTTTCATT others(1751): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(9): Show |
a0001 | a0001c0002a0001c0012 | a0001c0002t0007a0001c0002t0019a0001c0002t0036others(1): Show | a0001c0002t0007g0199a0001c0002t0007g0200a0001c0002t0007g0201others(9): Show | 12 | 312 | 0.0385 | -1758 | c.-7- others(15): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NR4A1_chr12_52046442_52064503 | 52062426 | CGCTGCTG others(1751): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0032 | 1 | 422 | 0.0024 | -1758 | c.*34 others(11): Show |
NR4A1 | ENSG00000123358.20 | transcript | ENST00000394825.6 | protein_coding | 2924 | chr12 | TogoVar | ||||||
| ACAP1_chr17_7331529_7356477 | 7337591 | TGCCTGTA others(1750): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 446 | 0.0022 | -1757 | c.111 others(16): Show |
ACAP1 | ENSG00000072818.12 | transcript | ENST00000158762.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PDE11A_chr2_177618244_178077777 | 177990728 | ACTCTGTC others(1750): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02965.hp1 HG03139.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0011a0002c0002t0001a0002c0002t0012others(1): Show | a0001c0003t0011g0098a0002c0002t0001g0099a0002c0002t0001g0100others(3): Show | 6 | 170 | 0.0353 | -1757 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| TXNRD1_chr12_104210779_104355307 | 104336912 | ACAATGTA others(1750): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 302 | 0.0033 | -1757 | c.174 others(18): Show |
TXNRD1 | ENSG00000198431.18 | transcript | ENST00000525566.6 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ZNF670_chr1_247029637_247083811 | 247067863 | AAAAGCTC others(1750): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0026 | 1 | 326 | 0.0031 | -1757 | c.3+8 others(14): Show |
ZNF670 | ENSG00000277462.2 | transcript | ENST00000366503.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32969205 | CTTTATAA others(1749): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01255.hp1 others(33): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0054others(22): Show | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(26): Show | a0001c0001t0001g0069a0001c0001t0001g0080a0001c0001t0013g0012others(33): Show | 36 | 126 | 0.2857 | -1756 | c.93+ others(17): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | ||||||
| ZNF670_chr1_247029637_247083811 | 247067864 | AAAGCTCC others(1749): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG02970.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0039 | a0001c0001t0009g0024a0001c0001t0009g0027a0001c0001t0009g0029others(6): Show | 9 | 326 | 0.0276 | -1756 | c.3+8 others(14): Show |
ZNF670 | ENSG00000277462.2 | transcript | ENST00000366503.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(1748): Show |
G | intron_variant | MODIFIER | HG01952.hp2 HG02055.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0057a0002c0002t0002 | a0001c0001t0057g0156a0002c0002t0002g0087a0002c0002t0002g0089others(2): Show | 5 | 162 | 0.0309 | -1755 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| LHFPL3_chr7_104323603_104913561 | 104834345 | AGGAATAA others(1748): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002a0001c0001t0009g0076 | 2 | 86 | 0.0233 | -1755 | c.683 others(19): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
| ZNF670_chr1_247029637_247083811 | 247067865 | AAGCTCCA others(1748): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 | 1 | 326 | 0.0031 | -1755 | c.3+8 others(14): Show |
ZNF670 | ENSG00000277462.2 | transcript | ENST00000366503.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| DUSP11_chr2_73757213_73785103 | 73783350 | GATTCAAG others(1746): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02258.hp2 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0113 | 4 | 386 | 0.0104 | -1753 | c.-51 others(11): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 3248 | chr2 | TogoVar | ||||||
| MB21D2_chr3_192791815_192922856 | 192827118 | GATCTCCT others(1746): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0109a0001c0001t0005g0177a0001c0001t0005g0192 | 3 | 298 | 0.0101 | -1753 | c.212 others(19): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
| MAN2B2_chr4_6570189_6628362 | 6622759 | GTAAGATG others(1745): Show |
G | splice_region_variant | LOW | HG02257.hp2 HG02280.hp2 HG02630.hp2 others(2): Show |
a0030a0034a0040others(2): Show | a0030c0058a0034c0056a0040c0039others(2): Show | a0030c0058t0007a0034c0056t0007a0040c0039t0007others(2): Show | a0030c0058t0007g0127a0034c0056t0007g0221a0040c0039t0007g0050others(2): Show | 5 | 362 | 0.0138 | -1752 | c.*14 others(11): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 19/19 | chr4 | TogoVar | ||||||
| NDUFB4_chr3_120591336_120607507 | 120598353 | CATCTTGC others(1745): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 424 | 0.0024 | -1752 | c.180 others(17): Show |
NDUFB4 | ENSG00000065518.8 | transcript | ENST00000184266.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| TYMS_chr18_652653_678578 | 654174 | GCCTCAAA others(1745): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0013 | a0001c0001t0009g0408a0001c0001t0013g0418 | 2 | 482 | 0.0042 | -1752 | c.-35 others(11): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3478 | chr18 | TogoVar | ||||||
| LINGO2_chr9_27932617_29218601 | 28553711 | TTGAAATG others(1744): Show |
T | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 62 | 0.0161 | -1751 | c.-31 others(21): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
| UPF3A_chr13_114276601_114310817 | 114292868 | TTCGAGAT others(1744): Show |
T | intron_variant | MODIFIER | NA18957.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0050 | 2 | 450 | 0.0044 | -1751 | c.846 others(17): Show |
UPF3A | ENSG00000169062.15 | transcript | ENST00000375299.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1238179 | TACTCCCT others(1743): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 1 | 106 | 0.0094 | -1750 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158708056 | CCCAGGAA others(1741): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(76): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0010others(73): Show | 79 | 378 | 0.2090 | -1748 | c.-51 others(11): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 3253 | chr7 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(1740): Show |
G | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 360 | 0.0028 | -1747 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| KLC1_chr14_103624211_103706544 | 103648156 | GGCCAGGA others(1739): Show |
G | intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 368 | 0.0027 | -1746 | c.-1- others(15): Show |
KLC1 | ENSG00000126214.22 | transcript | ENST00000334553.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TM4SF20_chr2_227357038_227384306 | 227368402 | GTGCAGTG others(1739): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0123 | 1 | 470 | 0.0021 | -1746 | c.249 others(16): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| TOPBP1_chr3_133595238_133666941 | 133603659 | GTAAACAA others(1739): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 NA18954.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0234a0001c0004t0001g0235a0001c0004t0001g0236 | 3 | 340 | 0.0088 | -1746 | c.442 others(19): Show |
TOPBP1 | ENSG00000163781.14 | transcript | ENST00000260810.10 | protein_coding | 27/27 | chr3 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288204 | TGTGTCTC others(1738): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0157 | 1 | 295 | 0.0034 | -1745 | c.*36 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4186 | chr1 | TogoVar | ||||||
| CFAP107_chr1_12741200_12768699 | 12745321 | CTTTCTCT others(1738): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02896.hp2 | a0008 | a0008c0010 | a0008c0010t0049 | a0008c0010t0049g0120 | 1 | 336 | 0.0030 | -1745 | c.-11 others(13): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
| BICRAL_chr6_42777052_42873556 | 42869821 | CGAGGCAG others(1737): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0043a0001c0001t0002g0052others(19): Show | 22 | 270 | 0.0815 | -1744 | c.*43 others(11): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1266 | chr6 | TogoVar | ||||||
| ABCA13_chr7_48166458_48652497 | 48613512 | CTGTGTTA others(1735): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01516.hp1 others(2): Show |
a0001a0004a0012 | a0001c0010a0004c0009a0012c0043others(1): Show | a0001c0010t0002a0004c0009t0002a0012c0043t0002others(1): Show | a0001c0010t0002g0074a0004c0009t0002g0151a0004c0009t0002g0166others(2): Show | 5 | 178 | 0.0281 | -1742 | c.147 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 58/61 | chr7 | TogoVar | ||||||
| FRMD4B_chr3_69163782_69391088 | 69267775 | GGCATGCA others(1734): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG03453.hp1 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0013a0004c0006t0007 | a0002c0002t0013g0039a0004c0006t0007g0038 | 2 | 224 | 0.0089 | -1741 | c.501 others(19): Show |
FRMD4B | ENSG00000114541.15 | transcript | ENST00000398540.8 | protein_coding | 5/22 | chr3 | TogoVar | ||||||
| SAMHD1_chr20_36885229_36956708 | 36894399 | ATTTTTGT others(1734): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017 | a0001c0001t0014g0254a0001c0001t0017g0261 | 2 | 340 | 0.0059 | -1741 | c.174 others(19): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 15/15 | chr20 | TogoVar |