| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF554_chr19_2814868_2841735 | 2820700 | TGAGACGG others(966): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0053a0001c0003t0010 | a0001c0001t0003g0050a0001c0001t0003g0052a0001c0001t0053g0051others(2): Show | 5 | 410 | 0.0122 | -973 | c.53+ others(14): Show |
ZNF554 | ENSG00000172006.12 | transcript | ENST00000317243.10 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565627 | GTGACTCT others(965): Show |
G | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 340 | 0.0029 | -972 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1085899 | GTTGTTGT others(965): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0019a0002c0002t0017 | a0001c0001t0019g0120a0002c0002t0017g0097 | 2 | 162 | 0.0124 | -972 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ERC1_chr12_986223_1500931 | 1089223 | GTTGTTGT others(965): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0085a0002c0002t0127 | a0002c0002t0085g0142a0002c0002t0127g0155 | 2 | 162 | 0.0124 | -972 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FLG_chr1_152297165_152330239 | 152306299 | TGGAAGCT others(965): Show |
T | conservative_inframe_deletion | MODERATE | HG02809.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
a0045a0103a0104 | a0045c0120a0045c0121a0103c0119others(1): Show | a0045c0120t0001a0045c0121t0001a0103c0119t0001others(1): Show | a0045c0120t0001g0227a0045c0121t0001g0228a0103c0119t0001g0230others(1): Show | 4 | 426 | 0.0094 | -972 | c.761 others(9): Show |
p.Ser others(15): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8658/12793 | 7615/12186 | 2539/4061 | chr1 | TogoVar | ||
| FLT3_chr13_27998274_28105576 | 28089366 | CAAAAGAA others(965): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03516.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0006 | a0003c0003t0001g0242a0003c0003t0006g0241 | 2 | 292 | 0.0069 | -972 | c.43+ others(17): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| MED13L_chr12_115953576_116282693 | 116271328 | CGCCTGTA others(965): Show |
C | intron_variant | MODIFIER | HG03239.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0236 | 2 | 254 | 0.0079 | -972 | c.72+ others(15): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(965): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 67 | 0.0149 | -972 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085481 | GTCCTCGC others(965): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 67 | 0.0149 | -972 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085822 | CCGGGGAA others(965): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01981.hp2 HG03490.hp1 others(1): Show |
a0001a0003a0004 | a0001c0002a0001c0007a0003c0008others(1): Show | a0001c0002t0002a0001c0007t0002a0003c0008t0002others(1): Show | a0001c0002t0002g0056a0001c0007t0002g0063a0003c0008t0002g0006others(1): Show | 4 | 67 | 0.0597 | -972 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114085984 | CCGGGGAA others(965): Show |
C | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0016 | 1 | 67 | 0.0149 | -972 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| NLGN1_chr3_173392744_174299372 | 173522942 | TTGACTTT others(964): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0027 | 1 | 44 | 0.0227 | -971 | c.-32 others(21): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| C1R_chr12_7075219_7097445 | 7083650 | GNNNNNNN others(963): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 320 | 0.0063 | -970 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746690 | GCCCGGGG others(963): Show |
G | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0025 | 1 | 366 | 0.0027 | -970 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRKDC_chr8_47768111_47965136 | 47906390 | TTGGGAGG others(963): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01099.hp2 others(7): Show |
a0002a0011 | a0002c0002a0011c0013 | a0002c0002t0001a0011c0013t0001 | a0002c0002t0001g0069a0002c0002t0001g0075a0002c0002t0001g0076others(7): Show | 10 | 198 | 0.0505 | -970 | c.293 others(19): Show |
PRKDC | ENSG00000253729.9 | transcript | ENST00000314191.7 | protein_coding | 25/85 | chr8 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80875740 | GTGTGTGT others(963): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0067 | a0001c0067t0068 | a0001c0067t0068g0110 | 1 | 196 | 0.0051 | -970 | c.151 others(19): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 13/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 402398 | CGTGTGGT others(962): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0016 | a0001c0016t0009 | a0001c0016t0009g0073 | 1 | 88 | 0.0114 | -969 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1089863 | TATTATTA others(962): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0071a0002c0002t0042 | a0001c0001t0071g0074a0002c0002t0042g0079 | 2 | 162 | 0.0124 | -969 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NXN_chr17_794310_984776 | 942088 | TCCTGGAT others(962): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 242 | 0.0041 | -969 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| VMP1_chr17_59702654_59847255 | 59792854 | AAATAATA others(962): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0100a0001c0001t0001g0101a0001c0001t0001g0102others(84): Show | 87 | 286 | 0.3042 | -969 | c.715 others(19): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ATP6V1H_chr8_53710543_53848245 | 53844291 | ATTTATAA others(961): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp1 HG03209.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257a0001c0001t0002g0258a0001c0001t0002g0261 | 3 | 286 | 0.0105 | -968 | c.-22 others(11): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 1047 | chr8 | TogoVar | ||||||
| CRK_chr17_1415693_1461232 | 1457326 | GGGCGTGA others(961): Show |
G | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0370 | 1 | 404 | 0.0025 | -968 | c.-21 others(11): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 1095 | chr17 | TogoVar | ||||||
| FOXQ1_chr6_1307098_1319758 | 1318790 | GGCCGGGC others(961): Show |
G | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01516.hp2 others(8): Show |
a0002a0004a0008 | a0002c0005a0004c0003a0008c0009 | a0002c0005t0008a0002c0005t0012a0004c0003t0001others(2): Show | a0002c0005t0008g0000a0002c0005t0012g0000a0004c0003t0001g0000others(2): Show | 11 | 406 | 0.0271 | -968 | c.*48 others(11): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 4033 | chr6 | TogoVar | ||||||
| HLA-DQB1_chr6_32654467_32671657 | 32657124 | CATGAAGG others(961): Show |
C | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 1 | 402 | 0.0025 | -968 | c.*21 others(11): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2342 | chr6 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(961): Show |
C | intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0301 | 1 | 366 | 0.0027 | -968 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| RFX7_chr15_56082280_56248879 | 56155744 | CCCAGAAC others(961): Show |
C | intron_variant | MODIFIER | HG02572.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0240a0001c0001t0023g0241 | 2 | 360 | 0.0056 | -968 | c.196 others(19): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070549 | GGCATCAC others(961): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 118 | 0.0085 | -968 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TESK2_chr1_45338883_45496163 | 45404574 | CACTTGAT others(961): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0135a0001c0001t0007g0136a0001c0001t0007g0137 | 3 | 286 | 0.0105 | -968 | c.344 others(19): Show |
TESK2 | ENSG00000070759.17 | transcript | ENST00000372086.4 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129857479 | GGGGGAAC others(961): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(6): Show | a0001c0001t0002g0033a0001c0001t0007g0014a0001c0001t0012g0002others(6): Show | 9 | 94 | 0.0957 | -968 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| CNNM2_chr10_102913294_103095222 | 102968293 | CTGGAGTG others(960): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0143 | 1 | 270 | 0.0037 | -967 | c.162 others(21): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| NCAPG2_chr7_158626169_158709804 | 158667328 | CGCTACTG others(960): Show |
C | intron_variant | MODIFIER | HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0168a0001c0001t0005g0214 | 2 | 378 | 0.0053 | -967 | c.147 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746034 | CTCTCCGT others(960): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG02293.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0018 | a0002c0002t0001g0229a0002c0002t0001g0234a0002c0002t0018g0227 | 3 | 366 | 0.0082 | -967 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746037 | TCCGTGGA others(960): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0051 | a0001c0001t0003g0029a0002c0002t0051g0031 | 2 | 366 | 0.0055 | -967 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TMEM163_chr2_134450759_134724000 | 134607422 | GACAGACC others(960): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 222 | 0.0045 | -967 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827245 | CTGAGCGG others(960): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01109.hp1 others(13): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0003t0016a0002c0001t0001others(6): Show | a0001c0002t0001g0042a0001c0002t0001g0127a0001c0003t0016g0100others(13): Show | 16 | 200 | 0.0800 | -967 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ZBED6_chr1_203790623_203859124 | 203817358 | ATGTAGTC others(960): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0214 | 1 | 384 | 0.0026 | -967 | c.*27 others(19): Show |
ZBED6 | ENSG00000257315.4 | transcript | ENST00000550078.3 | protein_coding | 2/16 | chr1 | TogoVar | ||||||
| ZC3H11A_chr1_203790623_203859124 | 203817358 | ATGTAGTC others(960): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 384 | 0.0026 | -967 | c.54+ others(13): Show |
ZC3H11A | ENSG00000058673.17 | transcript | ENST00000367210.3 | protein_coding | 3/17 | chr1 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1016400 | GTGTGTGA others(959): Show |
G | intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0018 | a0002c0004t0018g0010 | 1 | 40 | 0.0250 | -966 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| FBXL18_chr7_5470797_5518809 | 5492373 | GTGGGGTG others(959): Show |
G | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0011 | 1 | 338 | 0.0030 | -966 | c.178 others(18): Show |
FBXL18 | ENSG00000155034.21 | transcript | ENST00000382368.8 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
| MT1E_chr16_56620781_56632112 | 56620919 | TCACTCAT others(959): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0003g0001 | 2 | 458 | 0.0044 | -966 | c.-49 others(11): Show |
MT1E | ENSG00000169715.15 | transcript | ENST00000330439.7 | protein_coding | 4861 | chr16 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746013 | GGGGTCGC others(959): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0167 | 1 | 366 | 0.0027 | -966 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRPSAP1_chr17_76304478_76358916 | 76319669 | GTGTTGGC others(959): Show |
G | intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0346 | 1 | 366 | 0.0027 | -966 | c.782 others(17): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 7/9 | chr17 | TogoVar | ||||||
| BMPR2_chr2_202371327_202572749 | 202543134 | ACCACTGC others(958): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 | 1 | 224 | 0.0045 | -965 | c.141 others(18): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL26A1_chr7_101357875_101564024 | 101437979 | TTGGGATT others(958): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0121 | 1 | 174 | 0.0058 | -965 | c.282 others(17): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186186 | GGGGAACA others(958): Show |
G | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 350 | 0.0029 | -965 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2803 | chr16 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280857 | GAGAAGGA others(957): Show |
G | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 50 | 0.0200 | -964 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| HLA-DQB1_chr6_32654467_32671657 | 32657117 | GAAGCCAC others(957): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0017others(7): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(13): Show | a0001c0001t0006g0003a0001c0001t0006g0017a0001c0001t0012g0014others(31): Show | 211 | 402 | 0.5249 | -964 | c.*21 others(11): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2349 | chr6 | TogoVar | ||||||
| MSANTD5_chr5_178689572_178702761 | 178691277 | GTGGTGGC others(957): Show |
G | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02257.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0003c0003t0001g0005 | 4 | 430 | 0.0093 | -964 | c.*24 others(11): Show |
MSANTD5 | ENSG00000285891.2 | transcript | ENST00000648368.2 | protein_coding | 3294 | chr5 | TogoVar | ||||||
| MSANTD5_chr5_178689572_178702761 | 178691296 | GTCCCAGC others(957): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp1 others(50): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0049a0003c0003t0001g0005others(8): Show | 53 | 430 | 0.1233 | -964 | c.*24 others(11): Show |
MSANTD5 | ENSG00000285891.2 | transcript | ENST00000648368.2 | protein_coding | 3275 | chr5 | TogoVar | ||||||
| RAB40C_chr16_585066_634268 | 611730 | CAGGGACA others(957): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0212 | 1 | 350 | 0.0029 | -964 | c.143 others(17): Show |
RAB40C | ENSG00000197562.10 | transcript | ENST00000248139.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |