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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GFRA2_chr8_21685398_21793875 | 21694075 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0015 | 1 | 151 | 0.0066 | 44 | c.127 others(61): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0141 | 1 | 363 | 0.0028 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0154 | 1 | 363 | 0.0028 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02809.hp2 |
a0003a0004 | a0003c0003a0004c0005 | a0003c0003t0001a0003c0003t0007a0004c0005t0001 | a0003c0003t0001g0157 a0003c0003t0007g0182 a0004c0005t0001g0149 |
3 | 365 | 0.0082 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTTCCT others(37): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0187 | 1 | 363 | 0.0028 | 44 | c.58- others(57): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAAAGA others(37): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0177 | 1 | 12 | 0.0833 | 44 | c.-12 others(63): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAGAAA others(37): Show |
intron_variant | MODIFIER | HG02083.hp2 NA19000.hp2 |
a0001 | a0001c0004 | a0001c0004t0012a0001c0004t0032 | a0001c0004t0012g0007 a0001c0004t0032g0004 |
2 | 13 | 0.1538 | 44 | c.-12 others(63): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42583878 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 175 | 0.0057 | 44 | c.70+ others(61): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GIPR_chr19_45663221_45688722 | 45671202 | A | AAGCACTT others(37): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 414 | 0.0024 | 44 | c.173 others(57): Show |
GIPR | ENSG00000010310.9 | transcript | ENST00000590918.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(37): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 220 | 0.0045 | 44 | c.204 others(59): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAGGAA others(37): Show |
intron_variant | MODIFIER | HG01934.hp2 HG01993.hp2 HG02165.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0043 a0001c0001t0001g0108 others(1): Show |
14 | 233 | 0.0601 | 44 | c.204 others(59): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GK_chrX_30648423_30736462 | 30704149 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0112 | 1 | 284 | 0.0035 | 44 | c.851 others(61): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 11/20 | chrX | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308472 | A | ACCATGTC others(37): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 312 | 0.0032 | 44 | c.962 others(61): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | chr11 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074385 | G | GAAGAAAG others(37): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0106 |
2 | 270 | 0.0074 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19003.hp1 NA19084.hp2 |
a0001a0002 | a0001c0010a0001c0011a0002c0003 | a0001c0010t0001a0001c0011t0001a0002c0003t0001 | a0001c0010t0001g0232 a0001c0011t0001g0229 a0002c0003t0001g0259 |
3 | 22 | 0.1364 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp1 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0013 a0001c0005t0001g0235 a0002c0002t0001g0287 others(5): Show |
8 | 27 | 0.2963 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18972.hp1 NA18984.hp1 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0002t0002a0002c0003t0001 | a0002c0002t0001g0312 a0002c0002t0002g0285 a0002c0003t0001g0288 others(1): Show |
4 | 23 | 0.1739 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02922.hp2 NA18944.hp1 others(2): Show |
a0002a0010 | a0002c0002a0002c0003a0010c0017 | a0002c0002t0001a0002c0002t0002a0002c0003t0001others(1): Show | a0002c0002t0001g0351 a0002c0002t0002g0360 a0002c0003t0001g0298 others(2): Show |
5 | 24 | 0.2083 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18959.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0226 a0002c0003t0001g0260 |
2 | 21 | 0.0952 | 44 | c.76- others(59): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0006 | a0002c0006t0023 | a0002c0006t0023g0333 | 1 | 171 | 0.0058 | 44 | c.335 others(61): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLDC_chr9_6527467_6650729 | 6629957 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026 | 1 | 171 | 0.0058 | 44 | c.335 others(61): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 2/24 | chr9 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182646 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0097 | 1 | 121 | 0.0083 | 44 | c.125 others(63): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLI3_chr7_41955949_42242209 | 42182660 | A | ATATACAT others(37): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0011 | a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 others(3): Show |
6 | 135 | 0.0444 | 44 | c.125 others(63): Show |
GLI3 | ENSG00000106571.15 | transcript | ENST00000395925.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
GLP1R_chr6_39043781_39096303 | 39057747 | C | CCAGCAGT others(37): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01123.hp2 others(19): Show |
a0002a0003a0007 | a0002c0004a0002c0011a0002c0017others(2): Show | a0002c0004t0004a0002c0004t0007a0002c0004t0011others(12): Show | a0002c0004t0004g0088 a0002c0004t0007g0001 a0002c0004t0007g0054 others(17): Show |
22 | 436 | 0.0505 | 44 | c.283 others(59): Show |
GLP1R | ENSG00000112164.6 | transcript | ENST00000373256.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9879291 | T | TAAAATAA others(37): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02015.hp1 HG02080.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0046 a0001c0001t0001g0222 a0001c0001t0002g0045 others(1): Show |
4 | 280 | 0.0143 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9879291 | T | TAAAATAA others(37): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0056 a0001c0001t0001g0076 a0001c0001t0001g0079 others(10): Show |
13 | 289 | 0.0450 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9879291 | T | TAAAATAA others(37): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 277 | 0.0036 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9879292 | A | AAAATAAA others(37): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show |
4 | 368 | 0.0109 | 44 | c.114 others(63): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLRA1_chr5_151817513_151929851 | 151849452 | T | TTTCCTTT others(37): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 171 | 0.0058 | 44 | c.912 others(61): Show |
GLRA1 | ENSG00000145888.11 | transcript | ENST00000274576.9 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128989778 | T | TACTTTTT others(37): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(168): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(168): Show |
171 | 318 | 0.5377 | 44 | c.*66 others(55): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4811 | chr12 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128989798 | A | ATACCTTT others(37): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 318 | 0.0031 | 44 | c.*67 others(55): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 4831 | chr12 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1999982 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0166 | 1 | 126 | 0.0079 | 44 | c.346 others(63): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 1999998 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG01175.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0096 a0001c0001t0001g0108 others(15): Show |
18 | 150 | 0.1200 | 44 | c.346 others(63): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GMDS_chr6_1618806_2250605 | 2052116 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0097 | 1 | 122 | 0.0082 | 44 | c.345 others(63): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2763191 | A | AACACACA others(37): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0271 | 1 | 32 | 0.0313 | 44 | c.526 others(63): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2842110 | G | GAGAAGAA others(37): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0285 a0001c0004t0013g0286 a0001c0004t0013g0287 |
3 | 215 | 0.0140 | 44 | c.309 others(61): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA12_chr7_2723105_2849308 | 2842110 | G | GGGAAGAA others(37): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03098.hp1 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0008a0001c0004t0017 | a0001c0001t0002g0264 a0001c0001t0008g0267 a0001c0001t0008g0268 others(2): Show |
5 | 217 | 0.0230 | 44 | c.309 others(61): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3140044 | A | AAAAAATC others(37): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03490.hp2 NA18993.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0002t0001g0326 others(1): Show |
4 | 36 | 0.1111 | 44 | c.145 others(61): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11803962 | T | TGAGTGGA others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0124a0001c0001t0147a0001c0001t0182 | a0001c0001t0124g0167 a0001c0001t0147g0206 a0001c0001t0182g0015 |
3 | 246 | 0.0122 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11803965 | A | ATGGAACA others(37): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0051 | 1 | 238 | 0.0042 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11684264_11890685 | 11804335 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0124a0001c0001t0147 | a0001c0001t0033g0051 a0001c0001t0124g0167 a0001c0001t0147g0206 |
3 | 246 | 0.0122 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAL_chr18_11684264_11890685 | 11804431 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03540.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0032a0003c0004t0053 | a0001c0001t0032g0059 a0001c0001t0032g0060 a0003c0004t0053g0001 |
3 | 246 | 0.0122 | 44 | c.625 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000334049.11 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAL_chr18_11747085_11890685 | 11803962 | T | TGAGTGGA others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02922.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0112a0001c0001t0160 | a0001c0001t0009g0240 a0001c0001t0112g0245 a0001c0001t0160g0061 |
3 | 282 | 0.0106 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11803965 | A | ATGGAACA others(37): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0278 | 1 | 274 | 0.0036 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GNAL_chr18_11747085_11890685 | 11804335 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0112 | a0001c0001t0005g0278 a0001c0001t0009g0240 a0001c0001t0112g0245 |
3 | 282 | 0.0106 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAL_chr18_11747085_11890685 | 11804431 | T | TAAAGTTT others(37): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0120 | a0001c0001t0036g0193 a0001c0001t0036g0194 a0001c0001t0120g0219 |
3 | 282 | 0.0106 | 44 | c.394 others(63): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | chr18 | TogoVar | |||||||
GNAT3_chr7_80453635_80517064 | 80497671 | C | CATATACG others(37): Show |
intron_variant | MODIFIER | HG02886.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0038 a0001c0002t0002g0052 |
2 | 310 | 0.0065 | 44 | c.119 others(61): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(37): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 75 | 0.0133 | 44 | c.-95 others(63): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(37): Show |
3_prime_UTR_variant | MODIFIER | HG01981.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0192a0001c0001t0198 | a0001c0001t0192g0331 a0001c0001t0198g0324 |
2 | 160 | 0.0125 | 44 | c.*56 others(55): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(37): Show |
3_prime_UTR_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0048 | 1 | 117 | 0.0085 | 44 | c.*10 others(55): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar |