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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GMPR_chr6_16233587_16300549 | 16263591 | ATGCAGAG others(14): Show |
A | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 344 | 0.0029 | -21 | c.465 others(38): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GNA13_chr17_65004289_65061740 | 65018092 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0064a0001c0001t0003g0001a0001c0001t0003g0126others(13): Show | 18 | 180 | 0.1000 | -21 | c.561 others(36): Show |
GNA13 | ENSG00000120063.10 | transcript | ENST00000439174.7 | protein_coding | 3/3 | chr17 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77567813 | GCCAAGAT others(14): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01169.hp2 HG02109.hp2 others(17): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0001g0029a0001c0001t0001g0069a0001c0001t0001g0126others(17): Show | 20 | 240 | 0.0833 | -21 | c.125 others(40): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GNA14_chr9_77418079_77653322 | 77623216 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03579.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0001a0001c0005t0015 | a0001c0001t0002g0233a0001c0002t0001g0124a0001c0005t0015g0141 | 3 | 240 | 0.0125 | -21 | c.124 others(40): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3135844 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0385 | 1 | 450 | 0.0022 | -21 | c.-60 others(30): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 188 | chr19 | TogoVar | ||||||
GNAI1_chr7_80129831_80231181 | 80159901 | AGATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(90): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(52): Show | a0001c0001t0001g0286a0001c0001t0006g0032a0001c0001t0006g0221others(89): Show | 93 | 312 | 0.2981 | -21 | c.118 others(40): Show |
GNAI1 | ENSG00000127955.17 | transcript | ENST00000649796.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GNAI2_chr3_50231204_50264362 | 50253196 | GAGGGGCT others(14): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 330 | 0.0030 | -21 | c.464 others(34): Show |
GNAI2 | ENSG00000114353.17 | transcript | ENST00000313601.11 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52119425 | AGGAGGAG others(14): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0052 | 1 | 366 | 0.0027 | -21 | c.*33 others(32): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 3311 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52190778 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG02004.hp2 NA18969.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0150 | a0001c0001t0001g0263a0001c0002t0150g0264 | 2 | 366 | 0.0055 | -21 | c.-19 others(36): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2553528 | CATGTAAC others(14): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0171 | 1 | 206 | 0.0049 | -21 | c.-38 others(38): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2657350 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0005 | 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 | 2657352 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0024 | a0001c0001t0018g0158a0001c0001t0024g0056 | 2 | 206 | 0.0097 | -21 | c.-13 others(42): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
GNG7_chr19_2506219_2707694 | 2657362 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0143 | 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 | 2696339 | AAAGAAAG others(14): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0007 | 1 | 206 | 0.0049 | -21 | c.-13 others(40): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
GNL2_chr1_37561816_37600937 | 37595132 | ATTGTCAA others(14): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 376 | 0.0027 | -21 | c.64+ others(34): Show |
GNL2 | ENSG00000134697.13 | transcript | ENST00000373062.8 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132781909 | TCAACTAA others(14): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006a0001c0003t0048 | a0001c0001t0001g0077a0001c0003t0006g0290a0001c0003t0006g0291others(2): Show | 5 | 308 | 0.0162 | -21 | c.346 others(38): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 17/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132807781 | GGCCCCAC others(14): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01167.hp2 others(14): Show |
a0001a0002a0023 | a0001c0003a0001c0009a0002c0002others(1): Show | a0001c0003t0002a0001c0009t0002a0002c0002t0002others(5): Show | a0001c0003t0002g0196a0001c0009t0002g0232a0002c0002t0002g0002others(14): Show | 17 | 308 | 0.0552 | -21 | c.117 others(37): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 5/23 | chr12 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132821841 | GAGACTCC others(14): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 308 | 0.0033 | -21 | c.133 others(36): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 2/23 | chr12 | TogoVar | ||||||
GOLGA6A_chr15_74064857_74087550 | 74074580 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02559.hp2 | a0022 | a0022c0031 | a0022c0031t0001 | a0022c0031t0001g0117 | 1 | 137 | 0.0073 | -21 | c.124 others(30): Show |
p.Trp others(13): Show |
GOLGA6A | ENSG00000159289.6 | transcript | ENST00000290438.3 | protein_coding | 11/18 | 1309/3176 | 1248/2082 | 416/693 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82344984 | CAGCCTCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18522.hp2 | a0026 | a0026c0028 | a0026c0028t0047 | a0026c0028t0047g0045 | 1 | 301 | 0.0033 | -21 | c.855 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 975/4452 | 855/1569 | 285/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345004 | ATAGCCTC others(14): Show |
A | conservative_inframe_deletion | MODERATE | HG00741.hp1 HG01074.hp2 |
a0018 | a0018c0021 | a0018c0021t0004 | a0018c0021t0004g0022 | 2 | 301 | 0.0066 | -21 | c.835 others(28): Show |
p.Arg others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 955/4452 | 835/1569 | 279/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345047 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18972.hp2 | a0052 | a0052c0046 | a0052c0046t0044 | a0052c0046t0044g0055 | 1 | 301 | 0.0033 | -21 | c.792 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 912/4452 | 792/1569 | 264/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345131 | TAGCCTCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18522.hp2 | a0026 | a0026c0028 | a0026c0028t0047 | a0026c0028t0047g0045 | 1 | 301 | 0.0033 | -21 | c.708 others(28): Show |
p.Cys others(13): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 828/4452 | 708/1569 | 236/522 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129575 | TTCCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG03239.hp2 | a0053 | a0053c0042 | a0053c0042t0001 | a0053c0042t0001g0077 | 1 | 204 | 0.0049 | -21 | c.185 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1968/3822 | 1857/2007 | 619/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129668 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG02970.hp2 | a0048 | a0048c0035 | a0048c0035t0003 | a0048c0035t0003g0055 | 1 | 204 | 0.0049 | -21 | c.176 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1875/3822 | 1764/2007 | 588/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129689 | TCGTATCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02135.hp2 | a0029 | a0029c0068 | a0029c0068t0001 | a0029c0068t0001g0119 | 1 | 204 | 0.0049 | -21 | c.174 others(30): Show |
p.Glu others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1854/3822 | 1743/2007 | 581/668 | chr15 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23129819 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG00621.hp2 | a0052 | a0052c0040 | a0052c0040t0003 | a0052c0040t0003g0064 | 1 | 204 | 0.0049 | -21 | c.161 others(30): Show |
p.Lys others(13): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 8/9 | 1724/3822 | 1613/2007 | 538/668 | chr15 | TogoVar | ||
GOLGA6L22_chr15_22453903_22474226 | 22465822 | GGCAGGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00738.hp1 HG01891.hp2 HG03453.hp2 |
a0016a0048a0049 | a0016c0068a0048c0062a0049c0063 | a0016c0068t0011a0048c0062t0004a0049c0063t0003 | a0016c0068t0011g0056a0048c0062t0004g0057a0049c0063t0003g0053 | 3 | 226 | 0.0133 | -21 | c.159 others(30): Show |
p.Lys others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1686/4401 | 1595/2565 | 532/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22465939 | AGCAGGAG others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(48): Show |
a0003a0004a0010others(8): Show | a0003c0003a0003c0020a0004c0004others(9): Show | a0003c0003t0001a0003c0003t0005a0003c0020t0001others(10): Show | a0003c0003t0001g0001a0003c0003t0001g0003a0003c0003t0001g0005others(25): Show | 51 | 226 | 0.2257 | -21 | c.168 others(30): Show |
p.Asp others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1780/4401 | 1689/2565 | 563/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466082 | AGGGAGCA others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02155.hp2 HG02886.hp1 HG02886.hp2 others(1): Show |
a0000a0041a0051others(1): Show | a0000c0066a0041c0054a0051c0065others(1): Show | a0000c0066t0003a0041c0054t0003a0051c0065t0004others(1): Show | a0000c0066t0003g0055a0041c0054t0003g0058a0051c0065t0004g0054others(1): Show | 4 | 226 | 0.0177 | -21 | c.186 others(30): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 1957/4401 | 1866/2565 | 622/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L22_chr15_22453903_22474226 | 22466616 | AAGAAGAT others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02886.hp1 HG03453.hp2 |
a0048a0051 | a0048c0062a0051c0065 | a0048c0062t0004a0051c0065t0004 | a0048c0062t0004g0057a0051c0065t0004g0054 | 2 | 226 | 0.0089 | -21 | c.236 others(30): Show |
p.Glu others(13): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2458/4401 | 2367/2565 | 789/854 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L24_chr15_28342851_28363084 | 28350524 | TTCCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | NA18950.hp2 NA18954.hp2 |
a0029a0030 | a0029c0036a0030c0038 | a0029c0036t0007a0030c0038t0007 | a0029c0036t0007g0064a0030c0038t0007g0066 | 2 | 200 | 0.0100 | -21 | c.220 others(30): Show |
p.Gly others(13): Show |
GOLGA6L24 | ENSG00000237850.8 | transcript | ENST00000568624.2 | protein_coding | 8/9 | 2286/4304 | 2205/2499 | 735/832 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327133 | CCATATCT others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01517.hp1 | a0031 | a0031c0035 | a0031c0035t0002 | a0031c0035t0002g0043 | 1 | 182 | 0.0055 | -21 | c.170 others(30): Show |
p.Glu others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1788/3731 | 1707/1950 | 569/649 | chr15 | TogoVar | ||
GOLGA6L26_chr15_23319535_23339196 | 23327298 | TCGTATCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG01109.hp1 HG01169.hp2 others(34): Show |
a0003a0007a0008others(19): Show | a0003c0003a0007c0011a0008c0013others(20): Show | a0003c0003t0005a0007c0011t0002a0008c0013t0002others(23): Show | a0003c0003t0005g0013a0003c0003t0005g0062a0003c0003t0005g0063others(31): Show | 37 | 182 | 0.2033 | -21 | c.154 others(30): Show |
p.Glu others(13): Show |
GOLGA6L26 | ENSG00000273756.5 | transcript | ENST00000618455.5 | protein_coding | 8/9 | 1623/3731 | 1542/1950 | 514/649 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23441523 | TCCGCATC others(14): Show |
T | conservative_inframe_deletion | MODERATE | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(15): Show |
a0002a0009a0026others(1): Show | a0002c0008a0002c0011a0002c0041others(3): Show | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(6): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(8): Show | 18 | 396 | 0.0455 | -21 | c.931 others(28): Show |
p.Glu others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1013/3499 | 931/2730 | 311/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84240569 | CGAGGTGG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -21 | c.123 others(30): Show |
p.Asp others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1298/4553 | 1236/1725 | 412/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L6_chr15_20526856_20546800 | 20534590 | ATCTCCTC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0033 | a0033c0050 | a0033c0050t0002 | a0033c0050t0002g0104 | 1 | 214 | 0.0047 | -21 | c.182 others(30): Show |
p.Lys others(13): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 8/9 | 1934/4013 | 1823/2175 | 608/724 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28838788 | AATTCTGG others(14): Show |
A | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0040 | a0040c0027 | a0040c0027t0002 | a0040c0027t0002g0076 | 1 | 422 | 0.0024 | -21 | c.*34 others(32): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 3043 | chr15 | TogoVar | ||||||
GOLGA6L7_chr15_28836832_28853644 | 28842669 | CCATCTGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA20905.hp2 | a0041 | a0041c0029 | a0041c0029t0002 | a0041c0029t0002g0084 | 1 | 422 | 0.0024 | -21 | c.141 others(30): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1529/2367 | 1414/1869 | 472/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28842750 | CCCCCATC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG02109.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0020a0033a0036others(2): Show | a0020c0016a0033c0046a0036c0042others(2): Show | a0020c0016t0002a0033c0046t0002a0036c0042t0002others(2): Show | a0020c0016t0002g0069a0020c0016t0002g0070a0033c0046t0002g0145others(3): Show | 6 | 422 | 0.0142 | -21 | c.133 others(30): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1448/2367 | 1333/1869 | 445/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843098 | CCCCCATC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
a0002a0003a0006others(13): Show | a0002c0002a0003c0003a0006c0007others(13): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(23): Show | a0002c0002t0001g0023a0002c0002t0001g0052a0002c0002t0001g0057others(47): Show | 115 | 422 | 0.2725 | -21 | c.985 others(29): Show |
p.Lys others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1100/2367 | 985/1869 | 329/622 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843122 | CCATCTGC others(14): Show |
C | conservative_inframe_deletion | MODERATE | HG00735.hp1 NA18978.hp2 |
a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0114a0017c0019t0001g0124 | 2 | 422 | 0.0047 | -21 | c.961 others(28): Show |
p.Arg others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 1076/2367 | 961/1869 | 321/622 | chr15 | TogoVar | ||
GOLGA6L9_chr15_82424816_82444153 | 82434225 | CGTGAACA others(14): Show |
C | disruptive_inframe_deletion | MODERATE | HG01496.hp2 | a0028 | a0028c0031 | a0028c0031t0001 | a0028c0031t0001g0002 | 1 | 455 | 0.0022 | -21 | c.666 others(28): Show |
p.Cys others(13): Show |
GOLGA6L9 | ENSG00000197978.10 | transcript | ENST00000618348.2 | protein_coding | 6/9 | 930/4305 | 666/1299 | 222/432 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA8F_chr15_28373664_28397021 | 28385289 | GAGGAGAG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG00741.hp1 HG01361.hp1 HG01361.hp2 others(10): Show |
a0005a0017 | a0005c0005a0005c0032a0005c0034others(1): Show | a0005c0005t0001a0005c0005t0002a0005c0005t0005others(6): Show | a0005c0005t0001g0027a0005c0005t0002g0027a0005c0005t0005g0005others(9): Show | 13 | 270 | 0.0482 | -21 | c.105 others(30): Show |
p.Gln others(13): Show |
GOLGA8F | ENSG00000153684.16 | transcript | ENST00000526619.7 | protein_coding | 12/19 | 1153/4967 | 1055/1911 | 352/636 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA8G_chr15_28514611_28537971 | 28526313 | GGAAGCCT others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp2 | a0012 | a0012c0022 | a0012c0022t0002 | a0012c0022t0002g0050 | 1 | 100 | 0.0100 | -21 | c.109 others(30): Show |
p.Gln others(13): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 12/19 | 1173/4971 | 1091/1947 | 364/648 | chr15 | TogoVar | ||
GOLGA8J_chr15_30077955_30101690 | 30091288 | ACCTATCA others(14): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02258.hp1 others(8): Show |
a0010a0021a0042others(3): Show | a0010c0009a0021c0021a0042c0052others(3): Show | a0010c0009t0002a0021c0021t0018a0042c0052t0021others(3): Show | a0010c0009t0002g0024a0010c0009t0002g0181a0010c0009t0002g0182others(6): Show | 11 | 345 | 0.0319 | -21 | c.120 others(38): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA8N_chr15_32588456_32612237 | 32601766 | ACCTATCA others(14): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0039 | a0039c0059 | a0039c0059t0005 | a0039c0059t0005g0065 | 1 | 286 | 0.0035 | -21 | c.120 others(38): Show |
GOLGA8N | ENSG00000232653.9 | transcript | ENST00000448387.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA8O_chr15_32436914_32460634 | 32447285 | AGCTGCTG others(14): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02647.hp2 others(1): Show |
a0012a0017 | a0012c0014a0017c0017 | a0012c0014t0018a0017c0017t0004 | a0012c0014t0018g0127a0012c0014t0018g0138a0012c0014t0018g0146others(1): Show | 4 | 214 | 0.0187 | -21 | c.120 others(38): Show |
GOLGA8O | ENSG00000206127.11 | transcript | ENST00000509311.7 | protein_coding | 13/18 | chr15 | TogoVar | ||||||
GOLGA8Q_chr15_30547050_30570684 | 30560282 | CGTGGCCA others(14): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 |
a0007 | a0007c0010 | a0007c0010t0006 | a0007c0010t0006g0024a0007c0010t0006g0025 | 2 | 126 | 0.0159 | -21 | c.120 others(38): Show |
GOLGA8Q | ENSG00000178115.12 | transcript | ENST00000562783.2 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA8S_chr15_23349748_23373341 | 23361149 | CTTTTCTT others(14): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp1 others(6): Show |
a0001a0009a0047others(1): Show | a0001c0056a0009c0016a0009c0032others(2): Show | a0001c0056t0001a0009c0016t0001a0009c0032t0001others(2): Show | a0001c0056t0001g0136a0009c0016t0001g0032a0009c0016t0001g0113others(4): Show | 9 | 430 | 0.0209 | -21 | c.914 others(34): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |