| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SCN11A_chr3_38840764_39056944 | 38877083 | CTATATAT others(301): Show |
C | intron_variant | MODIFIER | HG02698.hp2 NA18612.hp2 NA19087.hp2 |
a0003a0004 | a0003c0004a0004c0013 | a0003c0004t0012a0004c0013t0001 | a0003c0004t0012g0229a0003c0004t0012g0234a0004c0013t0001g0133 | 3 | 314 | 0.0096 | -308 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 4260418 | TTGTGTTC others(301): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0032 | a0032c0075 | a0032c0075t0008 | a0032c0075t0008g0016 | 1 | 116 | 0.0086 | -308 | c.638 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79910099 | CACACCCT others(301): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0151a0001c0001t0007g0172a0001c0001t0007g0271others(4): Show | 7 | 352 | 0.0199 | -308 | c.609 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 5/5 | chr18 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920694 | CGGGAACC others(301): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0309 | 1 | 352 | 0.0028 | -308 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| SOX5_chr12_23524504_23954670 | 23837503 | ATATATTT others(301): Show |
A | intron_variant | MODIFIER | HG03942.hp2 HG04184.hp2 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0024a0001c0001t0035others(2): Show | a0001c0001t0017g0028a0001c0001t0024g0034a0001c0001t0035g0018others(2): Show | 5 | 212 | 0.0236 | -308 | c.481 others(17): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 376906 | CCCCACCC others(301): Show |
C | upstream_gene_variant | MODIFIER | NA18943.hp1 NA18951.hp2 NA18967.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0001a0003c0004t0004 | a0001c0001t0001g0299a0001c0001t0001g0306a0001c0001t0001g0313others(4): Show | 7 | 370 | 0.0189 | -308 | c.-12 others(10): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 881 | chr19 | TogoVar | ||||||
| TNK2_chr3_195858364_195913551 | 195880511 | CCCCCCCC others(301): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0012 | a0001c0012t0011 | a0001c0012t0011g0102 | 1 | 372 | 0.0027 | -308 | c.887 others(17): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | ||||||
| TRIB1_chr8_125425358_125443403 | 125441199 | ATCGGTGG others(301): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0058 | 2 | 476 | 0.0042 | -308 | c.*47 others(11): Show |
TRIB1 | ENSG00000173334.4 | transcript | ENST00000311922.4 | protein_coding | 2797 | chr8 | TogoVar | ||||||
| USP32_chr17_60172327_60397133 | 60368985 | TAAAAGAT others(301): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02451.hp2 others(8): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0010t0007 | a0001c0001t0001g0007a0001c0001t0003g0002a0001c0001t0003g0003others(8): Show | 11 | 152 | 0.0724 | -308 | c.58+ others(17): Show |
USP32 | ENSG00000170832.13 | transcript | ENST00000300896.9 | protein_coding | 1/33 | chr17 | TogoVar | ||||||
| USP4_chr3_49272144_49345053 | 49282857 | ACCACCAC others(301): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0004g0211 | 3 | 226 | 0.0133 | -308 | c.254 others(18): Show |
USP4 | ENSG00000114316.13 | transcript | ENST00000265560.9 | protein_coding | 19/21 | chr3 | TogoVar | ||||||
| YJU2_chr19_4242080_4274088 | 4269697 | TAGCTGGG others(301): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01891.hp1 HG02074.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0200a0001c0001t0001g0274a0001c0001t0001g0293others(21): Show | 24 | 384 | 0.0625 | -308 | c.*10 others(11): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 610 | chr19 | TogoVar | ||||||
| ZBTB4_chr17_7454378_7484631 | 7465076 | AACCTGGG others(301): Show |
A | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 400 | 0.0025 | -308 | c.109 others(17): Show |
ZBTB4 | ENSG00000174282.12 | transcript | ENST00000380599.9 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
| ZCCHC2_chr18_62518025_62583579 | 62581485 | TGCTGTGG others(301): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 | a0006 | a0006c0020 | a0006c0020t0006 | a0006c0020t0006g0152 | 1 | 312 | 0.0032 | -308 | c.*49 others(11): Show |
ZCCHC2 | ENSG00000141664.10 | transcript | ENST00000269499.10 | protein_coding | 2907 | chr18 | TogoVar | ||||||
| ABCA7_chr19_1035107_1070572 | 1049587 | CGTGAGCC others(300): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0013 | a0013c0013 | a0013c0013t0002 | a0013c0013t0002g0030 | 1 | 30 | 0.0333 | -307 | c.255 others(17): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ADAP1_chr7_892900_959680 | 933511 | GAGAGCCG others(300): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 14 | 0.0714 | -307 | c.213 others(17): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 2/10 | chr7 | TogoVar | ||||||
| ATRN_chr20_3466018_3656118 | 3477383 | TTTCCCCA others(300): Show |
T | intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 220 | 0.0046 | -307 | c.410 others(17): Show |
ATRN | ENSG00000088812.18 | transcript | ENST00000262919.10 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BNC2_chr9_16404503_16875670 | 16463288 | TAAATTCT others(300): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02647.hp1 others(5): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0008a0006c0018others(2): Show | a0001c0001t0007a0001c0001t0071a0003c0008t0025others(3): Show | a0001c0001t0007g0065a0001c0001t0007g0085a0001c0001t0007g0158others(5): Show | 8 | 176 | 0.0455 | -307 | c.670 others(19): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43045922 | ATTTTTTT others(300): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0205 | 1 | 276 | 0.0036 | -307 | c.546 others(17): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
| CALCRL_chr2_187336964_187453252 | 187350991 | TAAGAAAT others(300): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(265): Show |
a0001a0002a0005 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(252): Show | 268 | 344 | 0.7791 | -307 | c.117 others(17): Show |
CALCRL | ENSG00000064989.13 | transcript | ENST00000392370.8 | protein_coding | 14/14 | chr2 | TogoVar | ||||||
| CCDC102B_chr18_68793080_69060189 | 68857091 | TATATTTT others(300): Show |
T | intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 216 | 0.0046 | -307 | c.936 others(19): Show |
CCDC102B | ENSG00000150636.17 | transcript | ENST00000360242.9 | protein_coding | 4/7 | chr18 | TogoVar | ||||||
| CDK14_chr7_90591321_91215590 | 90954617 | TCTTTTTT others(300): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0022others(131): Show | 134 | 168 | 0.7976 | -307 | c.827 others(16): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CGB3_chr19_49017869_49029333 | 49026535 | ATTGCAGT others(300): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02451.hp1 others(11): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0008a0001c0002t0004a0001c0002t0020others(1): Show | a0001c0001t0008g0017a0001c0002t0004g0005a0001c0002t0004g0006others(3): Show | 14 | 391 | 0.0358 | -307 | c.-28 others(11): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 2203 | chr19 | TogoVar | ||||||
| CMYA5_chr5_79684836_79805222 | 79717879 | AAGCTATT others(300): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(194): Show |
a0001a0002a0003others(49): Show | a0001c0001a0001c0013a0001c0033others(71): Show | a0001c0001t0001a0001c0013t0006a0001c0033t0001others(102): Show | a0001c0001t0001g0171a0001c0001t0001g0212a0001c0001t0001g0235others(193): Show | 197 | 358 | 0.5503 | -307 | c.150 others(19): Show |
CMYA5 | ENSG00000164309.15 | transcript | ENST00000446378.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DGKI_chr7_137376037_137851974 | 137770525 | ACTCAGTG others(300): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01243.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0016others(57): Show | a0001c0001t0004g0037a0001c0001t0007g0010a0001c0001t0007g0050others(73): Show | 76 | 94 | 0.8085 | -307 | c.401 others(19): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 1/32 | chr7 | TogoVar | ||||||
| DNAJC25_chr9_111626334_111659345 | 111641676 | GGGGGGGG others(300): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG02056.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0003a0001c0002t0005a0002c0003t0002 | a0001c0002t0003g0127a0001c0002t0005g0202a0002c0003t0002g0262others(2): Show | 5 | 412 | 0.0121 | -307 | c.337 others(17): Show |
DNAJC25 | ENSG00000059769.20 | transcript | ENST00000313525.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DNAJC5_chr20_63890126_63941011 | 63919661 | CGCACCCG others(300): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02559.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0054 | a0001c0001t0008g0292a0001c0001t0008g0294a0001c0001t0008g0295others(2): Show | 5 | 372 | 0.0134 | -307 | c.-11 others(17): Show |
DNAJC5 | ENSG00000101152.12 | transcript | ENST00000360864.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| DPP6_chr7_154047398_154899285 | 154060324 | GCAGGAGG others(300): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0024 | 1 | 38 | 0.0263 | -307 | c.243 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
| EPHX1_chr1_225805124_225850563 | 225833943 | AAAAAATT others(300): Show |
A | intron_variant | MODIFIER | NA18950.hp1 NA18957.hp2 NA19000.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0384a0002c0002t0002g0389a0002c0002t0002g0391 | 3 | 422 | 0.0071 | -307 | c.364 others(17): Show |
EPHX1 | ENSG00000143819.13 | transcript | ENST00000272167.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| F7_chr13_113100791_113125685 | 113108058 | CGTGGGTG others(300): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA19054.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0210 | 2 | 400 | 0.0050 | -307 | c.64+ others(15): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| FLT3LG_chr19_49469215_49491231 | 49479228 | ACTGTCGC others(300): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 332 | 0.0030 | -307 | c.481 others(15): Show |
FLT3LG | ENSG00000090554.13 | transcript | ENST00000597551.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| FLT4_chr5_180596506_180654600 | 180635402 | GTGGATGG others(300): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0010 | a0010c0021 | a0010c0021t0001 | a0010c0021t0001g0326 | 1 | 388 | 0.0026 | -307 | c.59- others(15): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| GET4_chr7_871554_901436 | 889666 | TAGGACGG others(300): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0014a0001c0003t0006a0001c0011t0002 | a0001c0001t0014g0055a0001c0003t0006g0038a0001c0011t0002g0045 | 4 | 384 | 0.0104 | -307 | c.467 others(16): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GLP2R_chr17_9820924_9897099 | 9881368 | GCTGTCAG others(300): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(24): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0005a0004c0014others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(11): Show | a0001c0001t0001g0027a0001c0001t0001g0136a0001c0001t0001g0139others(24): Show | 27 | 380 | 0.0711 | -307 | c.128 others(18): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| HNRNPM_chr19_8439975_8494114 | 8449526 | GCTAAGAG others(300): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(284): Show | 315 | 360 | 0.8750 | -307 | c.113 others(17): Show |
HNRNPM | ENSG00000099783.13 | transcript | ENST00000325495.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| IFITM5_chr11_293200_304526 | 301836 | CCAGCACT others(300): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 434 | 0.0023 | -307 | c.-26 others(11): Show |
IFITM5 | ENSG00000206013.2 | transcript | ENST00000382614.2 | protein_coding | 2311 | chr11 | TogoVar | ||||||
| KDM4C_chr9_6752973_7180648 | 6999377 | TAAAAACA others(300): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(259): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0027others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(100): Show | a0001c0001t0001g0021a0001c0001t0001g0025a0001c0001t0001g0041others(259): Show | 262 | 266 | 0.9850 | -307 | c.178 others(19): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132358818 | CGTGGGAA others(300): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0257 | 1 | 290 | 0.0035 | -307 | c.117 others(19): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
| METTL26_chr16_629430_641305 | 631835 | GCCTCTCC others(300): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 404 | 0.0025 | -307 | c.*24 others(11): Show |
METTL26 | ENSG00000130731.16 | transcript | ENST00000301686.13 | protein_coding | 2594 | chr16 | TogoVar | ||||||
| MINK1_chr17_4828340_4903061 | 4830384 | CTTTTTTT others(300): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(62): Show |
a0001a0003a0009others(1): Show | a0001c0001a0001c0004a0003c0003others(5): Show | a0001c0001t0003a0001c0001t0013a0001c0004t0027others(15): Show | a0001c0001t0003g0062a0001c0001t0013g0075a0001c0004t0027g0059others(62): Show | 65 | 360 | 0.1806 | -307 | c.-31 others(11): Show |
MINK1 | ENSG00000141503.17 | transcript | ENST00000355280.11 | protein_coding | 2955 | chr17 | TogoVar | ||||||
| MRTFA_chr22_40405289_40641719 | 40638580 | TCGAGGCG others(300): Show |
T | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 256 | 0.0039 | -307 | c.-24 others(11): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 1862 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31511060 | CATACATA others(300): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0047 | 1 | 244 | 0.0041 | -307 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52591699 | CAGTAGAG others(300): Show |
C | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 300 | 0.0033 | -307 | c.282 others(19): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | ||||||
| PITPNA_chr17_1512718_1567792 | 1567215 | GGCCAGGA others(300): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0348 | 1 | 368 | 0.0027 | -307 | c.-49 others(11): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 4424 | chr17 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50343871 | CCCCCAGT others(300): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0002a0001c0018a0001c0031 | a0001c0002t0004a0001c0018t0004a0001c0031t0003 | a0001c0002t0004g0323a0001c0002t0004g0324a0001c0002t0004g0325others(9): Show | 12 | 340 | 0.0353 | -307 | c.-14 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRDM15_chr21_41793225_41884344 | 41806093 | TCACCACC others(300): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02132.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0014a0001c0006t0014 | a0001c0001t0014g0149a0001c0001t0014g0152a0001c0001t0014g0154others(2): Show | 5 | 406 | 0.0123 | -307 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
| PRPF8_chr17_1645629_1689867 | 1689357 | CGGGGCGG others(300): Show |
C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0082a0001c0001t0001g0083 | 3 | 291 | 0.0103 | -307 | c.-48 others(11): Show |
PRPF8 | ENSG00000174231.18 | transcript | ENST00000304992.11 | protein_coding | 4491 | chr17 | TogoVar | ||||||
| RAB40C_chr16_585066_634268 | 631835 | GCCTCTCC others(300): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0188 | 1 | 350 | 0.0029 | -307 | c.*42 others(11): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 2568 | chr16 | TogoVar | ||||||
| RRP12_chr10_97351701_97406340 | 97398046 | TTTTTTTT others(300): Show |
T | intron_variant | MODIFIER | NA18969.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0264 | 1 | 400 | 0.0025 | -307 | c.369 others(17): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 2/33 | chr10 | TogoVar | ||||||
| SDHAF3_chr7_97112698_97186763 | 97183894 | TCCATGTC others(300): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02145.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0016others(27): Show | 30 | 402 | 0.0746 | -307 | c.*26 others(11): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2132 | chr7 | TogoVar | ||||||
| SLC25A19_chr17_75267992_75294433 | 75276471 | GATTCTCC others(300): Show |
G | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156a0001c0002t0002g0159 | 2 | 344 | 0.0058 | -307 | c.774 others(15): Show |
SLC25A19 | ENSG00000125454.12 | transcript | ENST00000416858.7 | protein_coding | 7/7 | chr17 | TogoVar |