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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GMPR_chr6_16233587_16300549 | 16289848 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 344 | 0.0029 | 21 | c.698 others(36): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GNA12_chr7_2723105_2849308 | 2818444 | G | GTAATAAA others(14): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0284 | 1 | 322 | 0.0031 | 21 | c.310 others(40): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | AAAAAAAT others(14): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02717.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0080 a0001c0002t0001g0127 a0001c0002t0001g0131 |
3 | 240 | 0.0125 | 21 | c.309 others(40): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02970.hp2 |
a0001a0005 | a0001c0003a0005c0013 | a0001c0003t0002a0005c0013t0001 | a0001c0003t0002g0178 a0005c0013t0001g0085 |
2 | 240 | 0.0083 | 21 | c.309 others(40): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA14_chr9_77418079_77653322 | 77493026 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0005g0174 |
2 | 240 | 0.0083 | 21 | c.309 others(40): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
GNA15_chr19_3131033_3168749 | 3145359 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0369 | 1 | 450 | 0.0022 | 21 | c.146 others(38): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3145360 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19004.hp1 NA19060.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0036 a0001c0002t0001g0366 a0001c0002t0008g0360 |
3 | 450 | 0.0067 | 21 | c.146 others(38): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
GNAI1_chr7_80129831_80231181 | 80200324 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0071 | a0001c0001t0010g0301 a0001c0001t0071g0100 |
2 | 312 | 0.0064 | 21 | c.461 others(36): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GNAZ_chr22_23065519_23130032 | 23070353 | T | TGGCGGCG others(14): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 NA20905.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0251 a0001c0002t0001g0048 |
2 | 334 | 0.0060 | 21 | c.-66 others(30): Show |
GNAZ | ENSG00000128266.9 | transcript | ENST00000615612.2 | protein_coding | 165 | chr22 | TogoVar | |||||||
GNB1L_chr22_19778223_19859874 | 19847804 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01192.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0096 a0003c0003t0003g0013 a0003c0003t0003g0095 |
4 | 326 | 0.0123 | 21 | c.-21 others(38): Show |
GNB1L | ENSG00000185838.14 | transcript | ENST00000329517.11 | protein_coding | 2/7 | chr22 | TogoVar | |||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02300.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0320 others(1): Show |
4 | 336 | 0.0119 | 21 | c.-95 others(40): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0144 | a0001c0001t0144g0298 | 1 | 366 | 0.0027 | 21 | c.*56 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0006 | a0001c0006t0143 | a0001c0006t0143g0312 | 1 | 366 | 0.0027 | 21 | c.*56 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0145a0001c0001t0146 | a0001c0001t0145g0279 a0001c0001t0146g0292 |
2 | 366 | 0.0055 | 21 | c.*56 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATTT others(14): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0148 | a0001c0001t0148g0302 | 1 | 366 | 0.0027 | 21 | c.*56 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52119425 | A | AGGAGGAG others(14): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0001t0038a0001c0001t0041others(22): Show | a0001c0001t0018g0133 a0001c0001t0018g0151 a0001c0001t0038g0115 others(24): Show |
27 | 366 | 0.0738 | 21 | c.*33 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 3331 | chr15 | TogoVar | ||||||
GNE_chr9_36209441_36263448 | 36256239 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0050 | a0001c0001t0048g0130 a0001c0001t0050g0165 |
2 | 374 | 0.0054 | 21 | c.-43 others(38): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36263448 | 36257802 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0232 | 1 | 374 | 0.0027 | 21 | c.-43 others(36): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36256239 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0048a0001c0001t0050 | a0001c0001t0048g0073 a0001c0001t0050g0074 |
2 | 356 | 0.0056 | 21 | c.52- others(36): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36257802 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0095 | a0001c0001t0095g0017 | 1 | 356 | 0.0028 | 21 | c.52- others(36): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
GNE_chr9_36209441_36281978 | 36277354 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02080.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0019others(2): Show | a0001c0001t0003g0042 a0001c0001t0009g0055 a0001c0001t0009g0058 others(3): Show |
6 | 356 | 0.0169 | 21 | c.-43 others(30): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 377 | chr9 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795580 | G | GCGGCCCC others(14): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02080.hp2 HG03927.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 a0001c0002t0003g0032 |
14 | 422 | 0.0332 | 21 | c.*31 others(32): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2460 | chr16 | TogoVar | |||||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02027.hp2 HG02040.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0177 a0001c0001t0002g0092 a0001c0001t0003g0054 others(22): Show |
25 | 380 | 0.0658 | 21 | c.-29 others(38): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GNG4_chr1_235542685_235654784 | 235600100 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0184 a0001c0002t0006g0129 |
2 | 330 | 0.0061 | 21 | c.-12 others(40): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2525971 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01943.hp2 HG03490.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022a0001c0001t0043 | a0001c0001t0005g0109 a0001c0001t0022g0081 a0001c0001t0043g0162 |
3 | 206 | 0.0146 | 21 | c.-37 others(38): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2649390 | A | AATTATTA others(14): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(4): Show | a0001c0001t0001g0166 a0001c0001t0001g0204 a0001c0001t0008g0164 others(5): Show |
8 | 206 | 0.0388 | 21 | c.-13 others(40): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 206 | 0.0049 | 21 | c.-13 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG7_chr19_2506219_2707694 | 2657361 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 206 | 0.0049 | 21 | c.-13 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG8_chr19_46628953_46641202 | 46630330 | T | TCTCTCTC others(14): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 438 | 0.0023 | 21 | c.*37 others(32): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 3622 | chr19 | TogoVar | |||||||
GNL3L_chrX_54525219_54572289 | 54530148 | G | GCCCGCCC others(14): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 277 | 0.0036 | 21 | c.-31 others(30): Show |
GNL3L | ENSG00000130119.17 | transcript | ENST00000360845.3 | protein_coding | 70 | chrX | TogoVar | |||||||
GNPNAT1_chr14_52770193_52796607 | 52791669 | A | AGGCCCGG others(14): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 390 | 0.0026 | 21 | c.-25 others(30): Show |
GNPNAT1 | ENSG00000100522.10 | transcript | ENST00000216410.8 | protein_coding | 63 | chr14 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101824433 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02040.hp2 NA18945.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0004a0001c0001t0011a0001c0001t0025others(2): Show | a0001c0001t0004g0242 a0001c0001t0004g0255 a0001c0001t0004g0256 others(10): Show |
13 | 392 | 0.0332 | 21 | c.117 others(38): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0179 | 1 | 392 | 0.0026 | 21 | c.-25 others(32): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | |||||||
GNPTG_chr16_1346931_1369113 | 1354585 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 378 | 0.0027 | 21 | c.178 others(38): Show |
GNPTG | ENSG00000090581.11 | transcript | ENST00000204679.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132767615 | C | CAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 NA19064.hp1 NA19064.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0011 | a0001c0003t0004g0150 a0001c0003t0004g0166 a0001c0003t0011g0157 |
3 | 308 | 0.0097 | 21 | c.*54 others(32): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1298 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132787866 | C | CCCCTCCC others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00544.hp1 others(24): Show |
a0003a0004a0011others(1): Show | a0003c0004a0003c0008a0004c0036others(2): Show | a0003c0004t0001a0003c0004t0007a0003c0004t0008others(9): Show | a0003c0004t0001g0270 a0003c0004t0001g0279 a0003c0004t0001g0282 others(24): Show |
27 | 308 | 0.0877 | 21 | c.281 others(40): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132828702 | C | CCCGCCGC others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(292): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0003a0001c0009others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(112): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(292): Show |
295 | 308 | 0.9578 | 21 | c.-18 others(38): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CCTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0176 | 1 | 272 | 0.0037 | 21 | c.*33 others(38): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | chr3 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37362780 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0089 | 1 | 272 | 0.0037 | 21 | c.*33 others(38): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA6B_chr15_72649697_72674599 | 72662575 | C | CAGGAGGA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01884.hp2 | a0024 | a0024c0019 | a0024c0019t0006 | a0024c0019t0006g0049 | 1 | 333 | 0.0030 | 21 | c.118 others(30): Show |
p.Arg others(13): Show |
GOLGA6B | ENSG00000215186.7 | transcript | ENST00000421285.4 | protein_coding | 11/18 | 1249/5380 | 1208/2082 | 403/693 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6D_chr15_75277835_75300530 | 75290704 | C | CAGGAGGA others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 | a0016 | a0016c0022 | a0016c0022t0014 | a0016c0022t0014g0146 | 1 | 234 | 0.0043 | 21 | c.118 others(30): Show |
p.Arg others(13): Show |
GOLGA6D | ENSG00000140478.17 | transcript | ENST00000434739.4 | protein_coding | 11/18 | 1249/3178 | 1208/2082 | 403/693 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345005 | T | TAGCCTCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01891.hp2 | a0031 | a0031c0038 | a0031c0038t0042 | a0031c0038t0042g0049 | 1 | 301 | 0.0033 | 21 | c.854 others(28): Show |
p.Leu others(34): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 954/4452 | 854/1569 | 285/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345045 | C | CACAGCCT others(14): Show |
conservative_inframe_insertion | MODERATE | HG02622.hp2 HG02717.hp1 HG02717.hp2 |
a0022a0039 | a0022c0017a0039c0030 | a0022c0017t0006a0039c0030t0006 | a0022c0017t0006g0024 a0039c0030t0006g0059 |
3 | 301 | 0.0100 | 21 | c.814 others(28): Show |
p.Arg others(33): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 914/4452 | 814/1569 | 272/522 | chr15 | TogoVar | |||
GOLGA6L10_chr15_82334993_82354475 | 82345068 | C | CAGCCTCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01167.hp1 HG01169.hp2 |
a0020 | a0020c0019 | a0020c0019t0001 | a0020c0019t0001g0086 a0020c0019t0001g0090 |
2 | 301 | 0.0066 | 21 | c.791 others(28): Show |
p.Leu others(34): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 891/4452 | 791/1569 | 264/522 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129782 | T | TTCCTGCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG00438.hp2 HG00738.hp1 others(17): Show |
a0002a0042a0055 | a0002c0003a0002c0046a0002c0048others(2): Show | a0002c0003t0002a0002c0003t0018a0002c0046t0002others(3): Show | a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(11): Show |
20 | 204 | 0.0980 | 21 | c.167 others(30): Show |
p.Glu others(34): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1761/3822 | 1670/2007 | 557/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23129833 | T | TCGTATCT others(14): Show |
disruptive_inframe_insertion | MODERATE | HG01109.hp2 HG03225.hp2 HG03927.hp1 others(1): Show |
a0019a0021 | a0019c0016a0021c0019 | a0019c0016t0007a0021c0019t0001 | a0019c0016t0007g0084 a0019c0016t0007g0088 a0021c0019t0001g0024 |
4 | 204 | 0.0196 | 21 | c.159 others(30): Show |
p.Arg others(34): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1710/3822 | 1619/2007 | 540/668 | chr15 | TogoVar | |||
GOLGA6L1_chr15_23122066_23141822 | 23130404 | T | TTCTCCTC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp2 | a0050 | a0050c0037 | a0050c0037t0015 | a0050c0037t0015g0058 | 1 | 204 | 0.0049 | 21 | c.102 others(30): Show |
p.Met others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1139/3822 | 1048/2007 | 350/668 | chr15 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22466625 | C | CGGGAGCA others(14): Show |
conservative_inframe_insertion | MODERATE | HG01891.hp1 HG02970.hp2 |
a0015 | a0015c0023 | a0015c0023t0003 | a0015c0023t0003g0010 | 2 | 226 | 0.0089 | 21 | c.238 others(30): Show |
p.Ile others(34): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2477/4401 | 2386/2565 | 796/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
GOLGA6L24_chr15_28342851_28363084 | 28350820 | T | TCTGCTCC others(14): Show |
conservative_inframe_insertion | MODERATE | NA19086.hp2 | a0044 | a0044c0044 | a0044c0044t0002 | a0044c0044t0002g0083 | 1 | 200 | 0.0050 | 21 | c.190 others(30): Show |
p.Gln others(34): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1990/4304 | 1929/2499 | 643/832 | chr15 | TogoVar | |||
GOLGA6L24_chr15_28342851_28363084 | 28351546 | T | TCTCCTGC others(14): Show |
conservative_inframe_insertion | MODERATE | HG01069.hp2 HG01109.hp2 HG01169.hp1 others(3): Show |
a0008a0024 | a0008c0008a0024c0027 | a0008c0008t0001a0024c0027t0003 | a0008c0008t0001g0007 a0024c0027t0003g0034 |
6 | 200 | 0.0300 | 21 | c.118 others(30): Show |
p.Glu others(34): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 1264/4304 | 1203/2499 | 401/832 | chr15 | TogoVar |