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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GNA12_chr7_2723105_2849308 | 2780046 | G | GTATATGT others(25): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0304 | 1 | 322 | 0.0031 | 32 | c.525 others(51): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 2/3 | chr7 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3140044 | A | AAAAAATC others(25): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02083.hp2 HG02129.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0296others(9): Show | 13 | 450 | 0.0289 | 32 | c.145 others(49): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GNAL_chr18_11747085_11890685 | 11769890 | A | AAATACGT others(25): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0132 | 1 | 284 | 0.0035 | 32 | c.393 others(51): Show |
GNAL | ENSG00000141404.17 | transcript | ENST00000423027.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GNAQ_chr9_77711097_78036811 | 77863216 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0072 | a0001c0001t0001g0111a0001c0001t0072g0035 | 2 | 282 | 0.0071 | 32 | c.322 others(51): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
GNAT3_chr7_80453635_80517064 | 80493784 | A | ACCTCTTT others(25): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0026a0001c0001t0003g0027a0001c0001t0003g0028others(1): Show | 4 | 334 | 0.0120 | 32 | c.161 others(47): Show |
GNAT3 | ENSG00000214415.4 | transcript | ENST00000398291.4 | protein_coding | 2/7 | chr7 | TogoVar | ||||||
GNB1_chr1_1780286_1896087 | 1864314 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 336 | 0.0030 | 32 | c.-95 others(51): Show |
GNB1 | ENSG00000078369.19 | transcript | ENST00000378609.9 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52111173 | A | AACACACA others(25): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0330 | 1 | 366 | 0.0027 | 32 | c.*11 others(45): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 3926 | chr15 | TogoVar | ||||||
GNB5_chr15_52110100_52196392 | 52117089 | A | AATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0004 | a0001c0004t0205 | a0001c0004t0205g0289 | 1 | 366 | 0.0027 | 32 | c.*56 others(43): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5667 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0017 | a0001c0004t0014g0002a0001c0004t0014g0280a0001c0004t0014g0290others(2): Show | 7 | 366 | 0.0191 | 32 | c.*56 others(43): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(25): Show |
3_prime_UTR_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0173 | 1 | 366 | 0.0027 | 32 | c.*56 others(43): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNB5_chr15_52110100_52196392 | 52117102 | A | ATATATAT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0077a0001c0001t0151 | a0001c0001t0077g0159a0001c0001t0151g0353 | 2 | 366 | 0.0055 | 32 | c.*56 others(43): Show |
GNB5 | ENSG00000069966.19 | transcript | ENST00000261837.12 | protein_coding | 13/13 | 5654 | chr15 | TogoVar | |||||
GNE_chr9_36209441_36263448 | 36216327 | A | ATGTGTGT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0092 | a0001c0001t0018g0044a0001c0001t0018g0049a0001c0001t0018g0128others(1): Show | 4 | 374 | 0.0107 | 32 | c.*10 others(43): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000642385.2 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | |||||
GNE_chr9_36209441_36281978 | 36216327 | A | ATGTGTGT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0091 | a0001c0001t0015g0150a0001c0001t0015g0167a0001c0001t0015g0172others(1): Show | 4 | 356 | 0.0112 | 32 | c.*10 others(43): Show |
GNE | ENSG00000159921.20 | transcript | ENST00000396594.8 | protein_coding | 12/12 | 1037 | chr9 | TogoVar | |||||
GNG12_chr1_67696475_67838467 | 67763090 | G | GGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 274 | 0.0037 | 32 | c.-27 others(51): Show |
GNG12 | ENSG00000172380.6 | transcript | ENST00000370982.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
GNG2_chr14_51855612_51974795 | 51942571 | C | CTCTTTCT others(25): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18941.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0306a0001c0001t0001g0307a0001c0001t0016g0140 | 3 | 380 | 0.0079 | 32 | c.-29 others(49): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG2_chr14_51855612_51974795 | 51942571 | C | CTTTTTCT others(25): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0279 | 1 | 380 | 0.0026 | 32 | c.-29 others(49): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG2_chr14_51855612_51974795 | 51942589 | C | CTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0348 | 1 | 380 | 0.0026 | 32 | c.-29 others(49): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG2_chr14_51855612_51974795 | 51960587 | T | TTAACAAT others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0177a0001c0001t0001g0208a0001c0001t0001g0217others(97): Show | 100 | 380 | 0.2632 | 32 | c.88- others(47): Show |
GNG2 | ENSG00000186469.9 | transcript | ENST00000556766.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GNG7_chr19_2506219_2707694 | 2567331 | T | TTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0046 | 1 | 206 | 0.0049 | 32 | c.-77 others(51): Show |
GNG7 | ENSG00000176533.13 | transcript | ENST00000382159.8 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
GNG8_chr19_46628953_46641202 | 46635684 | G | GTGGGGTG others(25): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0020a0001c0001t0001g0039others(1): Show | 14 | 438 | 0.0320 | 32 | c.-44 others(47): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
GNG8_chr19_46628953_46641202 | 46635761 | G | GTGGGGTG others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19065.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 3 | 438 | 0.0069 | 32 | c.-44 others(47): Show |
GNG8 | ENSG00000167414.5 | transcript | ENST00000693335.1 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
GNPTAB_chr12_101740499_101835959 | 101833180 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG02027.hp2 HG02080.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0138a0001c0003t0003g0139a0001c0003t0003g0143others(4): Show | 7 | 392 | 0.0179 | 32 | c.-25 others(43): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2222 | chr12 | TogoVar | ||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AAAATAGA others(25): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0238 | 1 | 392 | 0.0026 | 32 | c.-25 others(43): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | ||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AAAATATA others(25): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0257 | 1 | 392 | 0.0026 | 32 | c.-25 others(43): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | ||||||
GNPTAB_chr12_101740499_101835959 | 101833182 | A | AATATATA others(25): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 NA18947.hp1 NA18989.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0004 | a0001c0001t0004g0239a0001c0001t0004g0272a0001c0008t0004g0261 | 3 | 392 | 0.0077 | 32 | c.-25 others(43): Show |
GNPTAB | ENSG00000111670.16 | transcript | ENST00000299314.12 | protein_coding | 2224 | chr12 | TogoVar | ||||||
GNRH1_chr8_25414258_25429261 | 25420383 | C | CAGCCTGG others(25): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18989.hp2 NA19006.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0026a0002c0002t0001g0022 | 9 | 398 | 0.0226 | 32 | c.238 others(47): Show |
GNRH1 | ENSG00000147437.10 | transcript | ENST00000421054.7 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
GOLGA3_chr12_132763914_132833869 | 132783509 | G | GGGGGCGC others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(191): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0011others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(74): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(191): Show | 194 | 308 | 0.6299 | 32 | c.326 others(49): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 16/23 | chr12 | TogoVar | ||||||
GOLGA4_chr3_37238271_37371879 | 37257906 | T | TATATATG others(25): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 272 | 0.0037 | 32 | c.162 others(49): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GOLGA4_chr3_37238271_37371879 | 37257976 | T | TATATATG others(25): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 272 | 0.0037 | 32 | c.162 others(49): Show |
GOLGA4 | ENSG00000144674.19 | transcript | ENST00000361924.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GOLGA8J_chr15_30077955_30101690 | 30099943 | C | CCAACCAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0049 | a0049c0048 | a0049c0048t0029 | a0049c0048t0029g0058 | 1 | 345 | 0.0029 | 32 | c.*64 others(43): Show |
GOLGA8J | ENSG00000179938.13 | transcript | ENST00000567927.2 | protein_coding | 3254 | chr15 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86088420 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0053 | 1 | 314 | 0.0032 | 32 | c.-21 others(49): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44288511 | C | CGAGCGAG others(25): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 150 | 0.0067 | 32 | c.-51 others(41): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 207 | chr15 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | NA18995.hp1 NA18998.hp1 NA19010.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081a0001c0001t0001g0110a0001c0001t0001g0241others(2): Show | 5 | 414 | 0.0121 | 32 | c.297 others(49): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | NA18962.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0182 | 2 | 414 | 0.0048 | 32 | c.297 others(49): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTAT others(25): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 414 | 0.0024 | 32 | c.297 others(49): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0192a0001c0002t0001g0197 | 2 | 414 | 0.0048 | 32 | c.297 others(49): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204200299 | G | GTGTGTGT others(25): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 414 | 0.0024 | 32 | c.297 others(49): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 3/4 | chr1 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55024278 | A | ACACACAT others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 441 | 0.0023 | 32 | c.664 others(47): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 5/7 | chr19 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089571 | C | CATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 32 | c.*34 others(43): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3356 | chr8 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089579 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 32 | c.*34 others(43): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3364 | chr8 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 44995169 | A | AACACACA others(25): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02451.hp1 HG02523.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0229a0001c0001t0003g0250a0001c0001t0004g0269others(5): Show | 8 | 348 | 0.0230 | 32 | c.88+ others(47): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPATCH2L_chr14_76146922_76219343 | 76215860 | T | TACATATG others(25): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0199 | 1 | 402 | 0.0025 | 32 | c.*14 others(45): Show |
GPATCH2L | ENSG00000089916.18 | transcript | ENST00000261530.12 | protein_coding | 1518 | chr14 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44453494 | G | GGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01169.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0271a0001c0004t0001g0223 | 2 | 326 | 0.0061 | 32 | c.193 others(51): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44453500 | G | GGTGTGTG others(25): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 326 | 0.0031 | 32 | c.193 others(51): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 3/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 326 | 0.0031 | 32 | c.46- others(47): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0117a0001c0002t0001g0167 | 2 | 326 | 0.0061 | 32 | c.46- others(47): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44483176 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 326 | 0.0031 | 32 | c.46- others(47): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
GPC2_chr7_100164606_100182381 | 100172725 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 400 | 0.0050 | 32 | c.893 others(47): Show |
GPC2 | ENSG00000213420.8 | transcript | ENST00000292377.4 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
GPC4_chrX_133295103_133420489 | 133303903 | G | GAGGAAGG others(25): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0207 | 1 | 221 | 0.0045 | 32 | c.129 others(49): Show |
GPC4 | ENSG00000076716.9 | transcript | ENST00000370828.4 | protein_coding | 7/8 | chrX | TogoVar | ||||||
GPC5_chr13_91393621_92872237 | 91571828 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG03041.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0002 | a0001c0001t0001g0021a0001c0001t0001g0027a0001c0001t0002g0037others(1): Show | 4 | 42 | 0.0952 | 32 | c.326 others(53): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |