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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYT14_chr1_209933217_210176315 | 210071264 | G | GTAAGTAG others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00738.hp2 others(40): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0025others(13): Show | a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0247 others(40): Show |
43 | 295 | 0.1458 | 48 | c.443 others(67): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79178948 | A | ATCTATAT others(41): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 30 | 0.0333 | 48 | c.-17 others(67): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114149222 | T | TGTGTGTG others(41): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0402 | 1 | 364 | 0.0027 | 48 | c.163 others(65): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SYT6_chr1_114084292_114158869 | 114149222 | T | TGTGTGTG others(41): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0281 | 1 | 364 | 0.0027 | 48 | c.163 others(65): Show |
SYT6 | ENSG00000134207.17 | transcript | ENST00000610222.3 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158705006 | G | GACCTGGG others(41): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0047 | 1 | 290 | 0.0034 | 48 | c.395 others(65): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAAR5_chr6_132583592_132594741 | 132590865 | C | CTAATTTC others(41): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 442 | 0.0023 | 48 | c.-11 others(59): Show |
TAAR5 | ENSG00000135569.5 | transcript | ENST00000258034.4 | protein_coding | 1125 | chr6 | TogoVar | |||||||
TAB3_chrX_30822442_30894254 | 30868316 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 223 | 0.0045 | 48 | c.-27 others(65): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | |||||||
TACC2_chr10_121984163_122259542 | 122132032 | A | AAAAGAAA others(41): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0087 | a0087c0081 | a0087c0081t0001 | a0087c0081t0001g0250 | 1 | 224 | 0.0045 | 48 | c.557 others(65): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
TACC3_chr4_1716521_1750171 | 1749264 | T | TGCACCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0021 a0001c0006t0004g0065 a0001c0006t0004g0066 others(3): Show |
7 | 342 | 0.0205 | 48 | c.*42 others(59): Show |
TACC3 | ENSG00000013810.21 | transcript | ENST00000313288.9 | protein_coding | 4094 | chr4 | TogoVar | |||||||
TACR2_chr10_69398903_69421918 | 69409896 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 48 | c.588 others(63): Show |
TACR2 | ENSG00000075073.16 | transcript | ENST00000373306.5 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
TAF11L2_chr5_17493231_17503827 | 17493385 | C | CATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 NA18946.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 |
2 | 24 | 0.0833 | 48 | c.-48 others(59): Show |
TAF11L2 | ENSG00000284373.1 | transcript | ENST00000639081.1 | protein_coding | 4845 | chr5 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61978262 | A | AGACCAAC others(41): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02258.hp1 HG02300.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(5): Show |
8 | 220 | 0.0364 | 48 | c.309 others(67): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61978262 | A | AGACCAAC others(41): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03195.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0003t0001g0063 |
3 | 215 | 0.0140 | 48 | c.309 others(67): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 61978263 | C | CACCAACC others(41): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01123.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0033others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0033t0001others(1): Show | a0001c0001t0001g0070 a0001c0002t0001g0221 a0001c0002t0001g0224 others(11): Show |
14 | 99 | 0.1414 | 48 | c.309 others(67): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | |||||||
TAFA1_chr3_67999247_68550621 | 68370474 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0118 | 1 | 150 | 0.0067 | 48 | c.119 others(67): Show |
TAFA1 | ENSG00000183662.12 | transcript | ENST00000478136.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TAGLN2_chr1_159913111_159930507 | 159927816 | G | GAAGTCTA others(41): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 444 | 0.0023 | 48 | c.-23 others(59): Show |
TAGLN2 | ENSG00000158710.15 | transcript | ENST00000368097.9 | protein_coding | 2310 | chr1 | TogoVar | |||||||
TALDO1_chr11_742464_770012 | 763204 | G | GCCCCGCC others(41): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0146 a0001c0001t0001g0164 others(1): Show |
4 | 224 | 0.0179 | 48 | c.462 others(63): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TALDO1_chr11_742464_770012 | 763236 | C | CCCCCGCC others(41): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 329 | 0.0030 | 48 | c.462 others(61): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TALDO1_chr11_742464_770012 | 763236 | C | CCCCCGCC others(41): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02129.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0182 a0001c0001t0001g0184 |
4 | 332 | 0.0120 | 48 | c.462 others(61): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TALDO1_chr11_742464_770012 | 763267 | T | CCCCCGCC others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 376 | 0.0027 | 48 | c.462 others(59): Show |
TALDO1 | ENSG00000177156.11 | transcript | ENST00000319006.8 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
TAPBPL_chr12_6447042_6467316 | 6465388 | A | ATATATAT others(41): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0006 | 1 | 429 | 0.0023 | 48 | c.*32 others(59): Show |
TAPBPL | ENSG00000139192.12 | transcript | ENST00000266556.8 | protein_coding | 3073 | chr12 | TogoVar | |||||||
TASL_chrX_30553809_30582766 | 30571256 | G | GAAAGAGA others(41): Show |
intron_variant | MODIFIER | HG01496.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0003g0107 |
2 | 85 | 0.0235 | 48 | c.-2+ others(63): Show |
TASL | ENSG00000120280.6 | transcript | ENST00000378962.4 | protein_coding | 2/2 | chrX | TogoVar | |||||||
TBC1D13_chr9_128782253_128815430 | 128808408 | C | CGTGTGTG others(41): Show |
3_prime_UTR_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0150 | a0001c0001t0150g0032 | 1 | 44 | 0.0227 | 48 | c.*53 others(57): Show |
TBC1D13 | ENSG00000107021.16 | transcript | ENST00000372648.10 | protein_coding | 12/12 | 578 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TBC1D16_chr17_79927343_80040872 | 79929965 | T | TCCCCTCC others(41): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0035a0001c0001t0064a0001c0005t0063 | a0001c0001t0035g0067 a0001c0001t0064g0181 a0001c0005t0063g0221 |
3 | 39 | 0.0769 | 48 | c.*10 others(61): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 2377 | chr17 | TogoVar | |||||||
TBC1D16_chr17_79927343_80040872 | 80024585 | C | CCACACAC others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(214): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0324 others(213): Show |
217 | 266 | 0.8158 | 48 | c.-62 others(67): Show |
TBC1D16 | ENSG00000167291.16 | transcript | ENST00000310924.7 | protein_coding | 1/11 | chr17 | TogoVar | |||||||
TBC1D19_chr4_26579084_26761223 | 26656987 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0074 a0001c0001t0007g0030 |
2 | 9 | 0.2222 | 48 | c.481 others(65): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26656987 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02071.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0063 others(7): Show |
10 | 17 | 0.5882 | 48 | c.481 others(65): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26656987 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03927.hp1 NA18941.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0037 others(4): Show |
7 | 14 | 0.5000 | 48 | c.481 others(65): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26656987 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 8 | 0.1250 | 48 | c.481 others(65): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D19_chr4_26579084_26761223 | 26735003 | C | CATATGTA others(41): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 302 | 0.0033 | 48 | c.108 others(65): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 47070787 | C | CCTGACGG others(41): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0090 a0001c0001t0002g0012 a0001c0001t0002g0039 others(2): Show |
5 | 112 | 0.0446 | 48 | c.132 others(69): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D2B_chr15_77989985_78082711 | 77992862 | C | CCCCCCCC others(41): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003 | 2 | 231 | 0.0087 | 48 | c.*52 others(59): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2122 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992871 | T | TCCCCCCA others(41): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0198 | 1 | 110 | 0.0091 | 48 | c.*52 others(59): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2113 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02723.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0012a0001c0002t0006a0001c0005t0006 | a0001c0001t0012g0173 a0001c0002t0006g0055 a0001c0005t0006g0017 |
3 | 49 | 0.0612 | 48 | c.683 others(65): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03491.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0028 a0001c0002t0003g0088 |
2 | 48 | 0.0417 | 48 | c.683 others(65): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78040855 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0247 | 1 | 47 | 0.0213 | 48 | c.683 others(65): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121192081 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp1 NA18968.hp1 |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0007 | a0001c0003t0005g0205 a0001c0003t0007g0235 a0001c0003t0007g0236 |
3 | 271 | 0.0111 | 48 | c.257 others(69): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 22/31 | chr6 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17705080 | A | ACGGCTGG others(41): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0156 a0001c0001t0006g0157 |
2 | 159 | 0.0126 | 48 | c.-10 others(69): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
TBC1D9_chr4_140615782_140761385 | 140712449 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0265 | 1 | 45 | 0.0222 | 48 | c.131 others(67): Show |
TBC1D9 | ENSG00000109436.8 | transcript | ENST00000442267.3 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235412092 | G | GTTTCCCT others(41): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18975.hp1 NA18982.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0065 a0001c0001t0001g0117 a0001c0001t0003g0115 others(3): Show |
6 | 154 | 0.0390 | 48 | c.186 others(65): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBX19_chr1_168275877_168319426 | 168298818 | C | CCTCCCTC others(41): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 375 | 0.0027 | 48 | c.665 others(65): Show |
TBX19 | ENSG00000143178.13 | transcript | ENST00000367821.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBX2_chr17_61394843_61414466 | 61402971 | A | AGAGAGAG others(41): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0003 | 1 | 217 | 0.0046 | 48 | c.664 others(61): Show |
TBX2 | ENSG00000121068.14 | transcript | ENST00000240328.4 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
TBXAS1_chr7_139824264_140025293 | 139923161 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 265 | 0.0038 | 48 | c.333 others(67): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950658 | T | TCCCTCGC others(41): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 HG02897.hp1 |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0007c0006t0001g0216 |
3 | 223 | 0.0135 | 48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(41): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01952.hp1 HG02056.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0090 a0001c0001t0001g0099 others(3): Show |
6 | 132 | 0.0455 | 48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950664 | A | ACCCTCCA others(41): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02257.hp1 HG02523.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0107 others(7): Show |
10 | 136 | 0.0735 | 48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950683 | C | CCCTCGCC others(41): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 268 | 0.0037 | 48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950753 | C | CCCCCTCG others(41): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0143 | 1 | 265 | 0.0038 | 48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139950845 | G | GGGATCCC others(41): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0101 | 1 | 267 | 0.0037 | 48 | c.451 others(65): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TBXAS1_chr7_139824264_140025293 | 139984636 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 185 | 0.0054 | 48 | c.113 others(69): Show |
TBXAS1 | ENSG00000059377.19 | transcript | ENST00000448866.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |