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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF1A_chr2_240708767_240825219 | 240781503 | C | CCACACAC others(1223): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0011 | a0001c0011t0044 | a0001c0011t0044g0153 | 1 | 330 | 0.0030 | 1230 | c.882 others(1247): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 10/48 | chr2 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1223): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 242 | 0.0041 | 1230 | c.174 others(1249): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1223): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 242 | 0.0041 | 1230 | c.174 others(1249): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MUSK_chr9_110663791_110811558 | 110690475 | T | TATAAATA others(1223): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0173a0001c0001t0006g0172 | 2 | 326 | 0.0061 | 1230 | c.358 others(1247): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MYT1L_chr2_1784113_2336275 | 2295539 | G | GAGAGAGA others(1223): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18990.hp2 NA19060.hp2 |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0006a0001c0003t0001a0001c0006t0001 | a0001c0002t0006g0022a0001c0003t0001g0023a0001c0006t0001g0024 | 3 | 104 | 0.0289 | 1230 | c.-52 others(1251): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132125729 | T | TGTGTGTG others(1223): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0048 | 1 | 86 | 0.0116 | 1230 | c.168 others(1249): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132125729 | T | TGTGTGTG others(1223): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01071.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0037a0001c0001t0002g0031a0001c0001t0002g0079others(8): Show | 11 | 86 | 0.1279 | 1230 | c.168 others(1249): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NTM_chr11_131365615_132341822 | 132125729 | T | TGTGTGTG others(1223): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03098.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0004a0001c0001t0001g0023a0001c0001t0001g0083others(2): Show | 5 | 86 | 0.0581 | 1230 | c.168 others(1249): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1223): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0046a0001c0002t0004g0047 | 2 | 326 | 0.0061 | 1230 | c.162 others(1249): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1223): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01258.hp2 HG01928.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0010g0004a0001c0001t0016g0003a0001c0001t0017g0049others(6): Show | 9 | 295 | 0.0305 | 1230 | c.126 others(1249): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1223): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0079 | 1 | 295 | 0.0034 | 1230 | c.126 others(1249): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 494827 | T | TGGGAGGT others(1223): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0012 | 1 | 295 | 0.0034 | 1230 | c.126 others(1249): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 495018 | G | GGATCACA others(1223): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0042 | 1 | 295 | 0.0034 | 1230 | c.126 others(1249): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1223): Show |
intron_variant | MODIFIER | HG02897.hp2 NA19043.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0223a0001c0002t0008g0351 | 2 | 370 | 0.0054 | 1230 | c.438 others(1247): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77485015 | G | GCGATTGT others(1223): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0142 | 1 | 150 | 0.0067 | 1230 | c.914 others(1247): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 4/11 | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77485015 | G | GCGATTGT others(1223): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0070 | 1 | 158 | 0.0063 | 1230 | c.860 others(1247): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 3/10 | chr17 | TogoVar | ||||||
SLC22A3_chr6_160343378_160457577 | 160456788 | G | GTGGTAGT others(1223): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0085 | 1 | 318 | 0.0031 | 1230 | c.*57 others(1241): Show |
SLC22A3 | ENSG00000146477.6 | transcript | ENST00000275300.3 | protein_coding | 4212 | chr6 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACATCA others(1223): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 392 | 0.0026 | 1230 | c.228 others(1249): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161873 | C | CCACACCC others(1223): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 388 | 0.0026 | 1230 | c.*23 others(1241): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2055 | chr11 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(1223): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0033 | 1 | 80 | 0.0125 | 1230 | c.497 others(1251): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1223): Show |
downstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 1230 | c.*24 others(1241): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1099615 | G | GTTCTAAG others(1224): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0276 | 1 | 326 | 0.0031 | 1231 | c.-13 others(1250): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1224): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03195.hp1 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0138a0005c0007t0001g0139 | 2 | 344 | 0.0058 | 1231 | c.373 others(1248): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1224): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
a0001a0005 | a0001c0005a0005c0007 | a0001c0005t0001a0005c0007t0001 | a0001c0005t0001g0018a0005c0007t0001g0009a0005c0007t0001g0062others(2): Show | 7 | 344 | 0.0204 | 1231 | c.373 others(1248): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1224): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0046 | 1 | 344 | 0.0029 | 1231 | c.373 others(1248): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1224): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02040.hp1 HG02074.hp1 others(6): Show |
a0002a0020 | a0002c0001a0002c0052a0020c0051 | a0002c0001t0001a0002c0052t0001a0020c0051t0001 | a0002c0001t0001g0007a0002c0001t0001g0038a0002c0001t0001g0063others(5): Show | 9 | 344 | 0.0262 | 1231 | c.373 others(1248): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(1224): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0134 | 1 | 168 | 0.0060 | 1231 | c.-26 others(1240): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725555 | C | CGGTGGAT others(1224): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0016 | 1 | 324 | 0.0031 | 1231 | c.340 others(1248): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(1224): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0277 | 1 | 324 | 0.0031 | 1231 | c.340 others(1248): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ENTPD2_chr9_137043107_137059061 | 137050264 | A | ACCCGCCC others(1224): Show |
intron_variant | MODIFIER | NA18976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 400 | 0.0025 | 1231 | c.102 others(1246): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329177 | G | GCTACACG others(1224): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 82 | 0.0122 | 1231 | c.199 others(1250): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252950 | T | TCACCACC others(1224): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0267 | 1 | 366 | 0.0027 | 1231 | c.666 others(1248): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252950 | T | TCACCACC others(1224): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 366 | 0.0027 | 1231 | c.666 others(1248): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1224): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0023 | 2 | 397 | 0.0050 | 1231 | c.*50 others(1242): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1224): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0023 | 6 | 397 | 0.0151 | 1231 | c.*50 others(1242): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1224): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0139 | 1 | 397 | 0.0025 | 1231 | c.*50 others(1242): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1224): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG02040.hp2 HG02074.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0041others(3): Show | 8 | 397 | 0.0202 | 1231 | c.*50 others(1242): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63450548 | A | ACTGCTGG others(1224): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0003 | a0001c0003t0102 | a0001c0003t0102g0267 | 1 | 330 | 0.0030 | 1231 | c.297 others(1248): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
NME8_chr7_37843597_37905397 | 37848075 | G | GAAGAAGA others(1224): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 388 | 0.0026 | 1231 | c.-89 others(1240): Show |
NME8 | ENSG00000086288.12 | transcript | ENST00000199447.9 | protein_coding | 521 | chr7 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 132125729 | T | TGTGTGTG others(1224): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 86 | 0.0116 | 1231 | c.168 others(1250): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1224): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0154 | 1 | 326 | 0.0031 | 1231 | c.162 others(1250): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811333 | C | CTCCCTTC others(1224): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0047 | 1 | 178 | 0.0056 | 1231 | c.773 others(1246): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934403 | C | CATATATA others(1224): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0275 | 1 | 324 | 0.0031 | 1231 | c.115 others(1248): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1224): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0264 | 1 | 324 | 0.0031 | 1231 | c.115 others(1248): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1224): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 324 | 0.0031 | 1231 | c.115 others(1248): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273733 | C | CCACATCA others(1224): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 392 | 0.0026 | 1231 | c.228 others(1250): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377283 | C | CCCCCCTG others(1224): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0069 | 1 | 370 | 0.0027 | 1231 | c.-13 others(1242): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1258 | chr19 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1225): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0210 | 1 | 337 | 0.0030 | 1232 | c.179 others(1253): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(1225): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0032 | a0032c0043 | a0032c0043t0002 | a0032c0043t0002g0142 | 1 | 262 | 0.0038 | 1232 | c.106 others(1251): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75647051 | T | TAGAAAGC others(1225): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0011 | a0011c0012 | a0011c0012t0004 | a0011c0012t0004g0299a0011c0012t0004g0300 | 2 | 372 | 0.0054 | 1232 | c.799 others(1249): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |