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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNG2_chr18_79792938_79905100 | 79808707 | T | TGGGCCCA others(233): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02647.hp2 HG03492.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0107a0001c0001t0001g0128a0001c0001t0001g0173others(9): Show | 12 | 312 | 0.0385 | 240 | c.-11 others(261): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79808785 | T | TCTGAGGA others(233): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277a0001c0001t0001g0278 | 2 | 312 | 0.0064 | 240 | c.-11 others(261): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79808985 | T | GCGCTGAC others(233): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0285 | 1 | 312 | 0.0032 | 240 | c.-11 others(255): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809047 | G | GCTGACCA others(233): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 312 | 0.0032 | 240 | c.-11 others(261): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79809201 | G | GCGCCCTG others(233): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 312 | 0.0032 | 240 | c.-11 others(261): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79809287 | A | ACTGACCA others(233): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02074.hp1 HG02300.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0014a0001c0001t0001g0077a0001c0001t0001g0240others(3): Show | 6 | 312 | 0.0192 | 240 | c.-11 others(261): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNK10_chr14_88175108_88328269 | 88310229 | G | GATATACC others(233): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0061 | a0001c0002t0061g0329 | 1 | 334 | 0.0030 | 240 | c.52+ others(257): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178757996 | T | TCCAAGAG others(233): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19091.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131a0001c0002t0001g0152 | 2 | 232 | 0.0086 | 240 | c.-67 others(259): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758232 | A | ATCCAAGA others(233): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 232 | 0.0043 | 240 | c.-67 others(259): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNMB2_chr3_178531436_178849429 | 178758700 | A | ACAAGAGG others(233): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 232 | 0.0043 | 240 | c.-67 others(259): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(233): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0100 | 1 | 308 | 0.0033 | 240 | c.-25 others(259): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(233): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 308 | 0.0033 | 240 | c.-25 others(259): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
KIAA1958_chr9_112481827_112674397 | 112525970 | T | TCCTTCTT others(233): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0003 | 1 | 308 | 0.0033 | 240 | c.-25 others(259): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20712845 | T | TTATCTAT others(233): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01123.hp1 HG02109.hp1 others(2): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0029a0004c0090others(1): Show | a0001c0001t0001a0003c0029t0001a0004c0090t0001others(1): Show | a0001c0001t0001g0189a0001c0001t0001g0190a0003c0029t0001g0231others(2): Show | 5 | 414 | 0.0121 | 240 | c.480 others(255): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169749968 | T | TATATGTG others(233): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 HG02976.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0243a0001c0001t0025g0281a0001c0001t0025g0282others(1): Show | 4 | 400 | 0.0100 | 240 | c.*24 others(249): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 241 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
KRTAP4-2_chr17_41172446_41183221 | 41177818 | T | TAGCAGGT others(233): Show |
conservative_inframe_insertion | MODERATE | NA19030.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0000 | 1 | 406 | 0.0025 | 240 | c.346 others(247): Show |
p.Cys others(253): Show |
KRTAP4-2 | ENSG00000244537.3 | transcript | ENST00000377726.3 | protein_coding | 1/1 | 403/776 | 346/411 | 116/136 | chr17 | TogoVar | ||
KSR2_chr12_117448012_117973990 | 117772214 | C | CACACACC others(233): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0023 | 1 | 196 | 0.0051 | 240 | c.473 others(259): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | ||||||
LCE1F_chr1_152770140_152782024 | 152775938 | T | TTCCAATA others(233): Show |
intron_variant | MODIFIER | HG03209.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 438 | 0.0046 | 240 | c.-22 others(255): Show |
LCE1F | ENSG00000240386.4 | transcript | ENST00000334371.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LHFPL3_chr7_104323603_104913561 | 104833044 | T | TATAATAG others(233): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0057 | 1 | 86 | 0.0116 | 240 | c.683 others(259): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088631 | C | CAGGGAAG others(233): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 NA18999.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 102 | 0.0294 | 240 | c.-44 others(251): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4234 | chr20 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088872 | A | AGTGGCCA others(233): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 240 | c.-46 others(251): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4475 | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp1 HG03195.hp1 others(1): Show |
a0007a0014 | a0007c0028a0007c0046a0014c0040 | a0007c0028t0004a0007c0046t0004a0014c0040t0004 | a0007c0028t0004g0017a0007c0028t0004g0265a0007c0046t0004g0036others(1): Show | 4 | 294 | 0.0136 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0006 | a0006c0049 | a0006c0049t0001 | a0006c0049t0001g0243 | 1 | 294 | 0.0034 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(43): Show |
a0001a0003a0015 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0107a0001c0001t0001g0122a0001c0001t0001g0174others(43): Show | 46 | 294 | 0.1565 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(77): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0011others(30): Show | a0001c0001t0001g0024a0001c0001t0001g0103a0001c0001t0001g0121others(77): Show | 80 | 294 | 0.2721 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 HG04204.hp1 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0001 | a0001c0002t0001g0095a0001c0010t0001g0271 | 2 | 294 | 0.0068 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp1 others(11): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0002a0001c0002t0002a0001c0006t0002others(6): Show | a0001c0001t0002g0135a0001c0001t0002g0229a0001c0001t0002g0266others(11): Show | 14 | 294 | 0.0476 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02280.hp1 others(5): Show |
a0001a0004 | a0001c0004a0001c0006a0001c0018others(3): Show | a0001c0004t0001a0001c0006t0001a0001c0018t0001others(3): Show | a0001c0004t0001g0054a0001c0006t0001g0092a0001c0006t0001g0290others(5): Show | 8 | 294 | 0.0272 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0018 | a0018c0058 | a0018c0058t0001 | a0018c0058t0001g0236 | 1 | 294 | 0.0034 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0010 | a0010c0047 | a0010c0047t0010 | a0010c0047t0010g0281 | 1 | 294 | 0.0034 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 294 | 0.0034 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 850668 | A | ATTGGAAG others(233): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0010 | a0010c0056 | a0010c0056t0009 | a0010c0056t0009g0136 | 1 | 294 | 0.0034 | 240 | c.*38 others(251): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2965 | chr16 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCCCC others(233): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 414 | 0.0024 | 240 | c.171 others(257): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135620041 | C | CCCCTTCT others(233): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 450 | 0.0022 | 240 | c.*10 others(251): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 149 | chr9 | TogoVar | ||||||
LOC128125818_chr4_6059977_6075162 | 6067677 | G | GGTTCACT others(233): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0197 | 1 | 462 | 0.0022 | 240 | c.106 others(257): Show |
LOC128125818 | ENSG00000284684.1 | transcript | ENST00000636216.1 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
LPA_chr6_160526482_160669275 | 160669050 | A | ATGGTGAT others(233): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp1 others(23): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0028others(11): Show | a0001c0001t0001a0002c0002t0003a0002c0002t0006others(12): Show | a0001c0001t0001g0121a0002c0002t0003g0128a0002c0002t0003g0132others(23): Show | 26 | 148 | 0.1757 | 240 | c.-48 others(251): Show |
LPA | ENSG00000198670.13 | transcript | ENST00000316300.10 | protein_coding | 4776 | chr6 | TogoVar | ||||||
LRP5_chr11_68307591_68454275 | 68372412 | A | AGACCCGG others(233): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(76): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(14): Show | a0001c0001t0001g0043a0001c0001t0001g0045a0001c0001t0001g0048others(76): Show | 79 | 212 | 0.3726 | 240 | c.101 others(259): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LRP5_chr11_68307591_68454275 | 68372454 | A | ACCCGGGA others(233): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00621.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(10): Show | a0001c0001t0001g0071a0001c0001t0001g0096a0001c0001t0001g0097others(22): Show | 25 | 212 | 0.1179 | 240 | c.101 others(259): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LRP5_chr11_68307591_68454275 | 68372457 | C | CGGGACCG others(233): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0014 | a0014c0031 | a0014c0031t0001 | a0014c0031t0001g0053 | 1 | 212 | 0.0047 | 240 | c.101 others(259): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LRP5_chr11_68307591_68454275 | 68372472 | G | GAGGAGGT others(233): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02965.hp1 |
a0008 | a0008c0015 | a0008c0015t0001 | a0008c0015t0001g0021a0008c0015t0001g0022 | 2 | 212 | 0.0094 | 240 | c.101 others(259): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LRRC14_chr8_144512992_144530172 | 144513804 | G | GAGGGGTC others(233): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0001 | 1 | 414 | 0.0024 | 240 | c.-43 others(251): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4187 | chr8 | TogoVar | ||||||
LRRC14_chr8_144512992_144530172 | 144513834 | A | GAGGGGTC others(233): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 414 | 0.0024 | 240 | c.-43 others(250): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4158 | chr8 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186374 | G | GGAGGAAC others(233): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 350 | 0.0029 | 240 | c.*28 others(251): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2615 | chr16 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186986 | G | GGAGGAAC others(233): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 | 1 | 350 | 0.0029 | 240 | c.*22 others(251): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2003 | chr16 | TogoVar | ||||||
LYPD8_chr1_248734415_248760759 | 248740632 | C | CGCAATTT others(233): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0122 | 1 | 374 | 0.0027 | 240 | c.476 others(255): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579289 | T | TCACCACC others(233): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 362 | 0.0028 | 240 | c.391 others(255): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAP2K5_chr15_67537703_67812114 | 67609560 | T | TTCTGTAG others(233): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 278 | 0.0036 | 240 | c.545 others(257): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MAP2K5_chr15_67537703_67812114 | 67609590 | T | TTCTGTAG others(233): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 278 | 0.0036 | 240 | c.545 others(257): Show |
MAP2K5 | ENSG00000137764.20 | transcript | ENST00000178640.10 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19477856 | G | GGGGGAGG others(233): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0019 | 1 | 163 | 0.0061 | 240 | c.525 others(257): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MBNL3_chrX_132364320_132494038 | 132396592 | C | CTATATAT others(233): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0045 | 1 | 191 | 0.0052 | 240 | c.343 others(257): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar |