| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| LEKR1_chr3_156821353_157051129 | 156911224 | TTTTTTCT others(54): Show |
T | intron_variant | MODIFIER | HG02572.hp1 NA18960.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0132a0001c0003t0001g0223 | 2 | 244 | 0.0082 | -61 | c.264 others(78): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| LHB_chr19_49010980_49022091 | 49019553 | TTAGCCAC others(54): Show |
T | upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -61 | c.-25 others(72): Show |
LHB | ENSG00000104826.15 | transcript | ENST00000649238.3 | protein_coding | 2463 | chr19 | TogoVar | |||||||
| LHFPL2_chr5_78480230_78653772 | 78592621 | TACACACA others(54): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0003 | a0003c0005 | a0003c0005t0029 | a0003c0005t0029g0213 | 1 | 254 | 0.0039 | -61 | c.-24 others(82): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
| LHFPL2_chr5_78480230_78653772 | 78592670 | TACACACA others(54): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0108a0001c0001t0036g0012 | 2 | 254 | 0.0079 | -61 | c.-24 others(82): Show |
LHFPL2 | ENSG00000145685.14 | transcript | ENST00000380345.7 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104430410 | ATATATAT others(54): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 86 | 0.0116 | -61 | c.445 others(82): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LHFPL4_chr3_9493361_9558822 | 9495672 | TTGCACCA others(54): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0300a0001c0001t0033g0158 | 2 | 360 | 0.0056 | -61 | c.*64 others(72): Show |
LHFPL4 | ENSG00000156959.9 | transcript | ENST00000287585.8 | protein_coding | 2688 | chr3 | TogoVar | |||||||
| LINGO2_chr9_27932617_29218601 | 28884926 | TAATATTA others(54): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01261.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0017a0001c0001t0032 | a0001c0001t0014g0008a0001c0001t0017g0007a0001c0001t0032g0023 | 3 | 62 | 0.0484 | -61 | c.-39 others(82): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
| LOC101059948_chr19_49012968_49025549 | 49019553 | TTAGCCAC others(54): Show |
T | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 402 | 0.0025 | -61 | c.504 others(74): Show |
LOC101059948 | ENSG00000268655.3 | transcript | ENST00000637680.2 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89398326 | CTGAAGAC others(54): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(186): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0003a0001c0001t0000g0004a0001c0001t0000g0007others(186): Show | 189 | 366 | 0.5164 | -61 | c.9+1 others(76): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89398375 | GCTGTGAA others(54): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0026 | 1 | 366 | 0.0027 | -61 | c.9+1 others(76): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LOC128462377_chr16_89312046_89423292 | 89412096 | CTACTGGG others(54): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0020a0001c0001t0000g0021a0001c0001t0000g0022 | 3 | 366 | 0.0082 | -61 | c.9+6 others(74): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
| LRBA_chr4_150259435_151020284 | 150420419 | GTATATAT others(54): Show |
G | intron_variant | MODIFIER | NA19004.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0156 | 1 | 180 | 0.0056 | -61 | c.704 others(80): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 46/56 | chr4 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132358505 | CAGCGTGG others(54): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 290 | 0.0035 | -61 | c.117 others(80): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132358644 | GAGCAGTG others(54): Show |
G | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 290 | 0.0035 | -61 | c.117 others(80): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132359009 | GAGCAGCG others(54): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 290 | 0.0035 | -61 | c.117 others(80): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132359038 | GAGCAGTG others(54): Show |
G | intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0087a0001c0003t0006g0091 | 2 | 290 | 0.0069 | -61 | c.117 others(80): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LRRC27_chr10_132327193_132386508 | 132359041 | CAGTGTGG others(54): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0096 | 1 | 290 | 0.0035 | -61 | c.117 others(80): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
| LRTM1_chr3_54913231_54933059 | 54921892 | GTTTGCAT others(54): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02145.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 3 | 348 | 0.0086 | -61 | c.604 others(78): Show |
LRTM1 | ENSG00000144771.8 | transcript | ENST00000273286.6 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
| LSAMP_chr3_115797374_116450487 | 116110142 | CCCCCAGA others(54): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0073 | 1 | 104 | 0.0096 | -61 | c.156 others(80): Show |
LSAMP | ENSG00000185565.13 | transcript | ENST00000490035.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
| LSM7_chr19_2316521_2333586 | 2332919 | AGGTGGGG others(54): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0077 | 2 | 436 | 0.0046 | -61 | c.-44 others(72): Show |
LSM7 | ENSG00000130332.15 | transcript | ENST00000252622.15 | protein_coding | 4334 | chr19 | TogoVar | |||||||
| LSM7_chr19_2316521_2333586 | 2333135 | GCTCTGCT others(54): Show |
G | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 436 | 0.0023 | -61 | c.-46 others(72): Show |
LSM7 | ENSG00000130332.15 | transcript | ENST00000252622.15 | protein_coding | 4550 | chr19 | TogoVar | |||||||
| MAN2C1_chr15_75350792_75373607 | 75355445 | CCAGGAGC others(54): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 382 | 0.0052 | -61 | c.*40 others(70): Show |
MAN2C1 | ENSG00000140400.18 | transcript | ENST00000267978.10 | protein_coding | 346 | chr15 | TogoVar | |||||||
| MAP2K5_chr15_67537703_67812114 | 67609598 | ACCTATTC others(54): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 278 | 0.0036 | -61 | c.545 others(78): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19452290 | GAAGAGAA others(54): Show |
G | intron_variant | MODIFIER | HG02698.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0069 | 2 | 163 | 0.0123 | -61 | c.995 others(78): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
| MCF2L_chr13_112964214_113104742 | 113012669 | GGTGTGGA others(54): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00733.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(13): Show | a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0052others(26): Show | 29 | 116 | 0.2500 | -61 | c.80- others(76): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MEF2B_chr19_19140567_19175263 | 19173466 | CTTACCAC others(54): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 404 | 0.0025 | -61 | c.-33 others(72): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 3204 | chr19 | TogoVar | |||||||
| MELTF_chr3_196996740_197034817 | 197032972 | GTTACCTC others(54): Show |
G | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02132.hp1 |
a0007 | a0007c0008 | a0007c0008t0027 | a0007c0008t0027g0028 | 2 | 420 | 0.0048 | -61 | c.-33 others(72): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 3156 | chr3 | TogoVar | |||||||
| MEP1A_chr6_46788389_46844778 | 46824945 | ATATATTT others(54): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0006 | a0006c0005 | a0006c0005t0003 | a0006c0005t0003g0030 | 1 | 352 | 0.0028 | -61 | c.557 others(76): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| MEP1A_chr6_46788389_46844778 | 46824986 | ATTTAAAT others(54): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0007 | a0007c0007 | a0007c0007t0010 | a0007c0007t0010g0136 | 1 | 352 | 0.0028 | -61 | c.557 others(76): Show |
MEP1A | ENSG00000112818.11 | transcript | ENST00000230588.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| MICU2_chr13_21487691_21609170 | 21510793 | GCCTTAGG others(54): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02818.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040a0001c0001t0003g0138a0001c0001t0003g0139others(3): Show | 6 | 316 | 0.0190 | -61 | c.664 others(76): Show |
MICU2 | ENSG00000165487.14 | transcript | ENST00000382374.9 | protein_coding | 7/11 | chr13 | TogoVar | |||||||
| MICU3_chr8_17022238_17127642 | 17127475 | TTAAAGCA others(54): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp1 others(187): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0016others(181): Show | 190 | 374 | 0.5080 | -61 | c.*71 others(72): Show |
MICU3 | ENSG00000155970.12 | transcript | ENST00000318063.10 | protein_coding | 4834 | chr8 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237521759 | GGACTGGG others(54): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG02970.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0005 | a0003c0003t0001g0229a0003c0003t0005g0136a0003c0003t0005g0242 | 3 | 286 | 0.0105 | -61 | c.675 others(78): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MPV17_chr2_27304492_27328097 | 27327692 | ACCTTGGC others(54): Show |
A | upstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 302 | 0.0033 | -61 | c.-47 others(72): Show |
MPV17 | ENSG00000115204.15 | transcript | ENST00000380044.6 | protein_coding | 4596 | chr2 | TogoVar | |||||||
| MRPL45_chr17_38292168_38328211 | 38313310 | AAATATAT others(54): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 NA18965.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0065a0002c0002t0001g0219a0002c0002t0001g0221 | 3 | 287 | 0.0105 | -61 | c.462 others(78): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MRPL45_chr17_38292168_38328211 | 38313312 | ATATATAT others(54): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02004.hp1 HG06807.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0001a0002c0002t0001a0004c0009t0001 | a0001c0001t0001g0046a0001c0001t0001g0093a0001c0001t0001g0122others(7): Show | 10 | 287 | 0.0348 | -61 | c.462 others(78): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | chr17 | TogoVar | |||||||
| MTHFD1_chr14_64383353_64465025 | 64397105 | AAAAAAAA others(54): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0223a0001c0001t0001g0225a0001c0001t0001g0226others(2): Show | 5 | 342 | 0.0146 | -61 | c.42- others(76): Show |
MTHFD1 | ENSG00000100714.18 | transcript | ENST00000652337.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| MYL5_chr4_669542_687028 | 681645 | GCCCCCTC others(54): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 412 | 0.0024 | -61 | c.421 others(76): Show |
MYL5 | ENSG00000215375.7 | transcript | ENST00000400159.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MYLK_chr3_123605049_123889332 | 123607447 | AATATATA others(54): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp1 NA18979.hp1 |
a0002a0029 | a0002c0002a0029c0044 | a0002c0002t0009a0029c0044t0009 | a0002c0002t0009g0092a0029c0044t0009g0096 | 2 | 156 | 0.0128 | -61 | c.*65 others(72): Show |
MYLK | ENSG00000065534.20 | transcript | ENST00000360304.8 | protein_coding | 2601 | chr3 | TogoVar | |||||||
| MYO3B_chr2_170173147_170660167 | 170649042 | GTATATTA others(54): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01934.hp2 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0052a0003c0003t0002g0058 | 2 | 174 | 0.0115 | -61 | c.373 others(80): Show |
MYO3B | ENSG00000071909.19 | transcript | ENST00000408978.9 | protein_coding | 32/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| NAALAD2_chr11_90129663_90197894 | 90155674 | GTATGTAA others(54): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 364 | 0.0028 | -61 | c.797 others(78): Show |
NAALAD2 | ENSG00000077616.11 | transcript | ENST00000534061.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| NACAD_chr7_45075437_45093969 | 45078643 | ATGAGGGG others(54): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02970.hp2 others(2): Show |
a0012a0023 | a0012c0013a0023c0027 | a0012c0013t0002a0023c0027t0002 | a0012c0013t0002g0013a0023c0027t0002g0078 | 5 | 410 | 0.0122 | -61 | c.*18 others(72): Show |
NACAD | ENSG00000136274.9 | transcript | ENST00000490531.3 | protein_coding | 1793 | chr7 | TogoVar | |||||||
| NACC1_chr19_13113264_13146147 | 13144712 | CACACCAG others(54): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 326 | 0.0031 | -61 | c.*63 others(72): Show |
NACC1 | ENSG00000160877.7 | transcript | ENST00000292431.5 | protein_coding | 3566 | chr19 | TogoVar | |||||||
| NCAPD3_chr11_134145113_134228967 | 134166264 | CGCACACT others(54): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp1 |
a0001 | a0001c0012 | a0001c0012t0024 | a0001c0012t0024g0204a0001c0012t0024g0205 | 2 | 370 | 0.0054 | -61 | c.357 others(80): Show |
NCAPD3 | ENSG00000151503.14 | transcript | ENST00000534548.7 | protein_coding | 27/34 | chr11 | TogoVar | |||||||
| NDUFB11_chrX_47137216_47149702 | 47148773 | TGTATCCT others(54): Show |
T | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0038 | 1 | 274 | 0.0037 | -61 | c.-41 others(72): Show |
NDUFB11 | ENSG00000147123.12 | transcript | ENST00000377811.4 | protein_coding | 4072 | chrX | TogoVar | |||||||
| NEIL1_chr15_75342039_75362115 | 75355445 | CCAGGAGC others(54): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02647.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 | 2 | 396 | 0.0051 | -61 | c.*42 others(70): Show |
NEIL1 | ENSG00000140398.14 | transcript | ENST00000355059.9 | protein_coding | 10/10 | 422 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| NGB_chr14_77260483_77276206 | 77269668 | TTCTCTCT others(54): Show |
T | intron_variant | MODIFIER | HG01192.hp2 NA18978.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106a0001c0001t0001g0230a0001c0001t0002g0247 | 3 | 366 | 0.0082 | -61 | c.90- others(74): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
| NGB_chr14_77260483_77276206 | 77269742 | TCTCTCTC others(54): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 366 | 0.0027 | -61 | c.90- others(74): Show |
NGB | ENSG00000165553.5 | transcript | ENST00000298352.5 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
| NLRP4_chr19_55831540_55886855 | 55851468 | TCCGAGGC others(54): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 NA21309.hp1 |
a0001a0002 | a0001c0005a0002c0002a0002c0017 | a0001c0005t0013a0002c0002t0011a0002c0017t0019 | a0001c0005t0013g0230a0002c0002t0011g0016a0002c0017t0019g0332 | 3 | 424 | 0.0071 | -61 | c.-65 others(76): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NLRP4_chr19_55831540_55886855 | 55851512 | TGGCTGCG others(54): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0359 | 1 | 424 | 0.0024 | -61 | c.-65 others(76): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NLRP4_chr19_55831540_55886855 | 55851529 | ACCGAGGC others(54): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0200 | 1 | 424 | 0.0024 | -61 | c.-65 others(76): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |