view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRA1_chr10_133082924_133136675 | 133111709 | C | CACCTGCC others(1127): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 368 | 0.0027 | 1134 | c.401 others(1151): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111933 | G | GGACACCT others(1127): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0006 | a0001c0006t0037 | a0001c0006t0037g0086 | 1 | 368 | 0.0027 | 1134 | c.401 others(1151): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133112017 | A | AGGCACCT others(1127): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 368 | 0.0027 | 1134 | c.401 others(1151): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350047 | G | GAGGGGAA others(1127): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 334 | 0.0030 | 1134 | c.838 others(1149): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | |||||||
ART1_chr11_3640128_3669416 | 3654681 | A | ATCCTCAC others(1127): Show |
intron_variant | MODIFIER | HG01993.hp1 HG03654.hp2 HG03927.hp2 others(14): Show |
a0002a0003 | a0002c0004a0003c0003 | a0002c0004t0002a0003c0003t0001a0003c0003t0002 | a0002c0004t0002g0007 a0003c0003t0001g0066 a0003c0003t0001g0097 others(7): Show |
17 | 394 | 0.0432 | 1134 | c.-52 others(1151): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89647606 | A | AGACCCAG others(1127): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 392 | 0.0026 | 1134 | c.253 others(1149): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647733 | G | GACCCAGT others(1127): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 392 | 0.0026 | 1134 | c.253 others(1149): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647817 | G | GACCCAGT others(1127): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 392 | 0.0026 | 1134 | c.253 others(1149): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647985 | G | GACCCAGT others(1127): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 392 | 0.0026 | 1134 | c.253 others(1149): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68898148 | C | CTGGCCTG others(1127): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 340 | 0.0029 | 1134 | c.161 others(1153): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
CPM_chr12_68846175_68938171 | 68898148 | C | CTGGCCTG others(1127): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 340 | 0.0029 | 1134 | c.161 others(1153): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGGTCTG others(1127): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0270 a0001c0001t0001g0271 |
3 | 396 | 0.0076 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0213 | 1 | 396 | 0.0025 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 396 | 0.0025 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 a0001c0001t0001g0212 |
2 | 396 | 0.0051 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | HG02129.hp1 HG03139.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0251 |
3 | 396 | 0.0076 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18973.hp1 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0208 |
4 | 396 | 0.0101 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 a0001c0001t0004g0334 a0001c0001t0004g0344 others(1): Show |
5 | 396 | 0.0126 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0366 | 1 | 396 | 0.0025 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1127): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 396 | 0.0025 | 1134 | c.218 others(1151): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CYBC1_chr17_82437586_82455752 | 82448246 | A | AAGTGGAC others(1127): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0055 | 1 | 416 | 0.0024 | 1134 | c.86- others(1147): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126947779 | A | ATGGTGGT others(1127): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 136 | 0.0074 | 1134 | c.47- others(1151): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400716 | T | TCACCACC others(1127): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0119 | 1 | 256 | 0.0039 | 1134 | c.323 others(1153): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(1127): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0173 | 1 | 208 | 0.0048 | 1134 | c.282 others(1153): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCAACACC others(1127): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0004 | 1 | 106 | 0.0094 | 1134 | c.*28 others(1145): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(1127): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 274 | 0.0037 | 1134 | c.804 others(1151): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120082 | A | AACAGGGA others(1127): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0005 | a0001c0005t0050 | a0001c0005t0050g0233 | 1 | 368 | 0.0027 | 1134 | c.353 others(1151): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LAIR1_chr19_54346384_54369931 | 54349469 | G | GAGGGATG others(1127): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA18987.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0011 | 2 | 462 | 0.0043 | 1134 | c.*57 others(1145): Show |
LAIR1 | ENSG00000167613.16 | transcript | ENST00000391742.7 | protein_coding | 1914 | chr19 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1127): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0085a0004c0012t0004 | a0001c0001t0085g0089 a0004c0012t0004g0007 |
2 | 108 | 0.0185 | 1134 | c.648 others(1153): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583342 | G | GCAGCCAC others(1127): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0089 | a0089c0109 | a0089c0109t0001 | a0089c0109t0001g0062 | 1 | 292 | 0.0034 | 1134 | c.377 others(1151): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583628 | G | GCGCAGCC others(1127): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0036 | a0036c0133 | a0036c0133t0010 | a0036c0133t0010g0067 | 1 | 292 | 0.0034 | 1134 | c.377 others(1151): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583628 | G | GCGCAGCC others(1127): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0032 | a0032c0125 | a0032c0125t0008 | a0032c0125t0008g0087 | 1 | 292 | 0.0034 | 1134 | c.377 others(1151): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3583682 | C | CCACAGCC others(1127): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0226 | 1 | 292 | 0.0034 | 1134 | c.377 others(1151): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1127): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0021 | 1 | 134 | 0.0075 | 1134 | c.575 others(1155): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397973 | A | AGGGGGGC others(1127): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0044 | 1 | 340 | 0.0029 | 1134 | c.227 others(1151): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162134 | G | GTCCCCAC others(1127): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 378 | 0.0027 | 1134 | c.260 others(1149): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744536 | C | CACTGTCC others(1127): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0018 | a0001c0018t0017 | a0001c0018t0017g0140 | 1 | 196 | 0.0051 | 1134 | c.655 others(1151): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(1127): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0182 | 1 | 376 | 0.0027 | 1134 | c.101 others(1151): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432129 | T | TAGGGTGG others(1127): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0181 | 1 | 376 | 0.0027 | 1134 | c.101 others(1151): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SIL1_chr5_138941724_139203368 | 139037106 | T | TAAAATTC others(1127): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 200 | 0.0050 | 1134 | c.453 others(1151): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098676 | G | GCCCCCCT others(1127): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0044 | 1 | 118 | 0.0085 | 1134 | c.125 others(1151): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(1127): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0212 | 1 | 306 | 0.0033 | 1134 | c.*12 others(1147): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(1127): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0040 others(35): Show |
39 | 306 | 0.1275 | 1134 | c.*12 others(1147): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(1127): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 306 | 0.0033 | 1134 | c.*12 others(1147): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1343614 | T | TCCCCTGT others(1127): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0014 | 1 | 190 | 0.0053 | 1134 | c.148 others(1155): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1346222 | C | CCCCCTGT others(1127): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0161 | 1 | 190 | 0.0053 | 1134 | c.148 others(1155): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1127): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 258 | 0.0039 | 1134 | c.113 others(1153): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1127): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 392 | 0.0026 | 1134 | c.157 others(1153): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1127): Show |
intron_variant | MODIFIER | NA18747.hp2 NA19011.hp1 NA19054.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 |
3 | 392 | 0.0077 | 1134 | c.157 others(1153): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1127): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(62): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0114 a0001c0001t0001g0117 others(61): Show |
65 | 392 | 0.1658 | 1134 | c.157 others(1153): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar |