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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNG7_chr19_2506219_2707694 | 2659592 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG01433.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0019others(6): Show | a0001c0001t0001g0178 a0001c0001t0014g0197 a0001c0001t0019g0003 others(6): Show |
9 | 148 | 0.0608 | 9 | c.-13 others(30): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
GNG8_chr19_46628953_46641202 | 46630329 | C | CTCTCTCT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp2 HG01081.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 others(6): Show |
22 | 330 | 0.0667 | 9 | c.*37 others(20): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 3623 | chr19 | TogoVar | |||||||
GNMT_chr6_42955754_42968880 | 42961550 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01175.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 15 | 125 | 0.1200 | 9 | c.206 others(24): Show |
GNMT | ENSG00000124713.6 | transcript | ENST00000372808.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GNS_chr12_64708449_64764406 | 64732153 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0156 a0001c0001t0001g0170 a0001c0001t0001g0207 others(5): Show |
8 | 122 | 0.0656 | 9 | c.109 others(28): Show |
GNS | ENSG00000135677.11 | transcript | ENST00000258145.8 | protein_coding | 9/13 | chr12 | TogoVar | |||||||
GOLGA3_chr12_132763914_132833869 | 132787591 | A | AGACCCCG others(2): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03490.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0032a0001c0001t0033 | a0001c0001t0003g0167 a0001c0001t0003g0198 a0001c0001t0032g0160 others(1): Show |
4 | 306 | 0.0131 | 9 | c.281 others(26): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 13/23 | chr12 | TogoVar | |||||||
GOLGA4_chr3_37238271_37371879 | 37254530 | G | GTTTAATT others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02970.hp1 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0006 | a0007c0008t0006g0006 a0007c0008t0006g0007 a0007c0008t0006g0008 others(2): Show |
5 | 270 | 0.0185 | 9 | c.162 others(26): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GOLGA5_chr14_92789305_92844947 | 92804821 | A | AATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0004a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(231): Show |
319 | 388 | 0.8222 | 9 | c.545 others(26): Show |
GOLGA5 | ENSG00000066455.13 | transcript | ENST00000163416.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GOLGA5_chr14_92789305_92844947 | 92835941 | A | ACAGGGTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(218): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0006a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
221 | 388 | 0.5696 | 9 | c.205 others(26): Show |
GOLGA5 | ENSG00000066455.13 | transcript | ENST00000163416.7 | protein_coding | 11/12 | chr14 | TogoVar | |||||||
GOLGA6L7_chr15_28836832_28853644 | 28852109 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 HG02027.hp2 HG02056.hp1 others(4): Show |
a0003a0004a0008 | a0003c0003a0004c0004a0008c0009 | a0003c0003t0002a0004c0004t0002a0004c0004t0006others(1): Show | a0003c0003t0002g0002 a0004c0004t0002g0005 a0004c0004t0006g0076 others(1): Show |
7 | 90 | 0.0778 | 9 | c.-35 others(20): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 3466 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34375595 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG03579.hp1 others(2): Show |
a0001a0011a0017 | a0001c0001a0011c0014a0017c0019 | a0001c0001t0001a0001c0001t0005a0011c0014t0005others(1): Show | a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0005g0102 others(2): Show |
5 | 168 | 0.0298 | 9 | c.*58 others(20): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3472 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34418130 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01109.hp2 others(13): Show |
a0004a0038a0039 | a0004c0004a0038c0045a0039c0043 | a0004c0004t0003a0004c0004t0025a0038c0045t0003others(1): Show | a0004c0004t0003g0194 a0004c0004t0003g0198 a0004c0004t0003g0199 others(13): Show |
16 | 34 | 0.4706 | 9 | c.-11 others(32): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
GOLGA8A_chr15_34374068_34442808 | 34418130 | T | TTAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0012 | a0012c0010 | a0012c0010t0011 | a0012c0010t0011g0016 a0012c0010t0011g0017 a0012c0010t0011g0018 others(1): Show |
4 | 22 | 0.1818 | 9 | c.-11 others(32): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | |||||||
GOLGA8G_chr15_28514611_28537971 | 28514859 | T | TTGGTAGA others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG03139.hp1 others(1): Show |
a0003 | a0003c0003a0003c0014 | a0003c0003t0004a0003c0003t0008a0003c0014t0004 | a0003c0003t0004g0005 a0003c0003t0008g0021 a0003c0014t0004g0020 |
4 | 100 | 0.0400 | 9 | c.*77 others(20): Show |
GOLGA8G | ENSG00000183629.14 | transcript | ENST00000525590.3 | protein_coding | 4751 | chr15 | TogoVar | |||||||
GOLGA8H_chr15_30599028_30622752 | 30618764 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG02602.hp2 HG03471.hp2 others(4): Show |
a0002a0006a0013others(1): Show | a0002c0002a0006c0006a0013c0011others(1): Show | a0002c0002t0004a0006c0006t0003a0013c0011t0004others(1): Show | a0002c0002t0004g0129 a0002c0002t0004g0130 a0006c0006t0003g0015 others(3): Show |
7 | 185 | 0.0378 | 9 | c.*42 others(20): Show |
GOLGA8H | ENSG00000261794.2 | transcript | ENST00000566740.2 | protein_coding | 1013 | chr15 | TogoVar | |||||||
GOLGA8S_chr15_23349748_23373341 | 23361170 | T | TTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp1 HG02055.hp2 others(19): Show |
a0003a0004a0005others(7): Show | a0003c0003a0004c0004a0005c0005others(7): Show | a0003c0003t0001a0004c0004t0002a0005c0005t0003others(7): Show | a0003c0003t0001g0050 a0003c0003t0001g0222 a0003c0003t0001g0243 others(15): Show |
22 | 344 | 0.0640 | 9 | c.914 others(22): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLGB1_chr3_121658201_121754741 | 121727321 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02135.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0261 a0002c0003t0002g0269 a0002c0003t0002g0270 others(3): Show |
6 | 313 | 0.0192 | 9 | c.403 others(24): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
GOLIM4_chr3_168003689_168100924 | 168050822 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01257.hp2 HG01884.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(7): Show | a0001c0001t0006g0147 a0001c0001t0007g0036 a0001c0001t0007g0131 others(9): Show |
12 | 70 | 0.1714 | 9 | c.188 others(26): Show |
GOLIM4 | ENSG00000173905.9 | transcript | ENST00000470487.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GOLIM4_chr3_168003689_168100924 | 168050860 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0034 a0001c0001t0002g0120 a0001c0001t0011g0137 |
3 | 222 | 0.0135 | 9 | c.188 others(26): Show |
GOLIM4 | ENSG00000173905.9 | transcript | ENST00000470487.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86035866 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01256.hp1 HG01256.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0013a0001c0003t0002a0001c0004t0002others(2): Show | a0001c0001t0013g0132 a0001c0003t0002g0082 a0001c0004t0002g0041 others(11): Show |
14 | 219 | 0.0639 | 9 | c.758 others(24): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 7/9 | chr9 | TogoVar | |||||||
GOLM2_chr15_44283719_44420758 | 44366300 | A | AAAACAAA others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02040.hp1 HG02155.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0002g0124 others(20): Show |
23 | 147 | 0.1565 | 9 | c.803 others(28): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44366310 | A | AAAACAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0093 others(11): Show |
14 | 116 | 0.1207 | 9 | c.803 others(28): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GOLPH3_chr5_32119716_32179319 | 32155098 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00597.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0057 others(35): Show |
40 | 138 | 0.2899 | 9 | c.226 others(28): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
GOLPH3_chr5_32119716_32179319 | 32176053 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01256.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0052 a0001c0001t0001g0179 others(3): Show |
6 | 171 | 0.0351 | 9 | c.-20 others(20): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1735 | chr5 | TogoVar | |||||||
GOSR1_chr17_30472408_30532592 | 30480722 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0003g0008 others(2): Show |
7 | 77 | 0.0909 | 9 | c.32- others(22): Show |
GOSR1 | ENSG00000108587.16 | transcript | ENST00000451249.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GOSR2_chr17_46918160_46947020 | 46939046 | G | GTGGCTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00735.hp1 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0021a0002c0002t0007others(2): Show | a0001c0001t0005g0006 a0001c0001t0005g0013 a0001c0001t0005g0027 others(14): Show |
35 | 410 | 0.0854 | 9 | c.*28 others(18): Show |
GOSR2 | ENSG00000108433.17 | transcript | ENST00000640051.2 | protein_coding | 6/6 | 297 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GP1BB_chr22_19718539_19729771 | 19725847 | C | CACTGTCG others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(311): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(12): Show |
314 | 315 | 0.9968 | 9 | c.*13 others(20): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 1077 | chr22 | TogoVar | |||||||
GPAT3_chr4_83531108_83610875 | 83549711 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01256.hp2 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0247 a0001c0001t0002g0258 a0001c0001t0002g0266 others(3): Show |
6 | 217 | 0.0276 | 9 | c.208 others(26): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83551813 | A | AAATCTAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01993.hp2 HG02300.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0003c0003t0002 | a0001c0001t0002g0024 a0001c0001t0002g0249 a0001c0001t0002g0259 others(12): Show |
15 | 186 | 0.0806 | 9 | c.208 others(26): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83562214 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(85): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 others(85): Show |
88 | 299 | 0.2943 | 9 | c.208 others(28): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83566419 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 NA18946.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0064 others(12): Show |
15 | 139 | 0.1079 | 9 | c.209 others(28): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83578948 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00733.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0021 others(21): Show |
24 | 99 | 0.2424 | 9 | c.209 others(26): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
GPAT4_chr8_41573200_41630001 | 41600036 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0003g0019 a0001c0001t0003g0058 a0001c0001t0003g0065 others(8): Show |
11 | 182 | 0.0604 | 9 | c.165 others(24): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GPATCH11_chr2_37079518_37104244 | 37082086 | T | TTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00609.hp2 others(31): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0058 others(8): Show |
34 | 75 | 0.4533 | 9 | c.-24 others(20): Show |
GPATCH11 | ENSG00000152133.17 | transcript | ENST00000674370.2 | protein_coding | 2431 | chr2 | TogoVar | |||||||
GPATCH2L_chr14_76146922_76219343 | 76188535 | C | CTTTTGCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(303): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(69): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(228): Show |
306 | 400 | 0.7650 | 9 | c.119 others(28): Show |
GPATCH2L | ENSG00000089916.18 | transcript | ENST00000261530.12 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217521358 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01358.hp2 HG01515.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0029 a0001c0001t0002g0131 a0001c0001t0002g0132 others(13): Show |
16 | 30 | 0.5333 | 9 | c.109 others(28): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483154 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp1 HG01192.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0139 others(4): Show |
7 | 263 | 0.0266 | 9 | c.46- others(24): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44483825 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01074.hp1 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0003t0001g0148 others(7): Show |
10 | 170 | 0.0588 | 9 | c.46- others(24): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPATCH8_chr17_44390281_44508406 | 44493054 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01106.hp1 others(35): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0010others(4): Show | a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0162 others(35): Show |
38 | 178 | 0.2135 | 9 | c.45+ others(26): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57211576 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00639.hp1 others(80): Show |
a0001a0003a0006 | a0001c0001a0003c0005a0006c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 others(80): Show |
83 | 183 | 0.4536 | 9 | c.-57 others(26): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPC1_chr2_240430663_240473076 | 240453002 | T | TGGAGCCG others(2): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02717.hp1 HG02818.hp2 others(2): Show |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0005 | 5 | 396 | 0.0126 | 9 | c.167 others(26): Show |
GPC1 | ENSG00000063660.9 | transcript | ENST00000264039.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPC4_chrX_133295103_133420489 | 133404866 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02074.hp1 HG02886.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0205 a0002c0002t0002g0116 a0002c0002t0002g0117 others(5): Show |
8 | 110 | 0.0727 | 9 | c.160 others(26): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 1/8 | chrX | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 91503780 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02615.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0013 others(8): Show |
11 | 23 | 0.4783 | 9 | c.325 others(28): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91541843 | T | TCATAACA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG01261.hp2 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(22): Show |
25 | 42 | 0.5952 | 9 | c.325 others(28): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91718099 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0002g0009 |
2 | 41 | 0.0488 | 9 | c.102 others(30): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92347853 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03471.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0003 | a0001c0004t0001g0017 a0002c0002t0003g0026 |
2 | 39 | 0.0513 | 9 | c.156 others(32): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92353266 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02280.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 others(9): Show |
12 | 36 | 0.3333 | 9 | c.156 others(32): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92628264 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0002g0002 others(1): Show |
4 | 10 | 0.4000 | 9 | c.156 others(32): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 92748311 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 others(2): Show |
5 | 21 | 0.2381 | 9 | c.156 others(32): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93354349 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0042 a0001c0001t0005g0058 a0001c0001t0006g0070 others(3): Show |
6 | 18 | 0.3333 | 9 | c.160 others(30): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 93354354 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG03017.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0004g0073 others(9): Show |
12 | 76 | 0.1579 | 9 | c.160 others(30): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |