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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EFCAB13_chr17_47318955_47446312 | 47351296 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(26): Show |
a0002a0005a0011 | a0002c0002a0005c0005a0011c0030 | a0002c0002t0003a0005c0005t0001a0005c0005t0002others(3): Show | a0002c0002t0003g0328 a0005c0005t0001g0007 a0005c0005t0001g0008 others(26): Show |
29 | 356 | 0.0815 | -18 | c.661 others(35): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47351298 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | NA19064.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0272 | 1 | 356 | 0.0028 | -18 | c.661 others(35): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29970651 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0131 | 1 | 248 | 0.0040 | -18 | c.767 others(35): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29994133 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02615.hp2 HG03486.hp1 others(1): Show |
a0002a0003 | a0002c0002a0002c0022a0003c0006others(1): Show | a0002c0002t0002a0002c0022t0002a0003c0006t0002others(1): Show | a0002c0002t0002g0089 a0002c0022t0002g0019 a0003c0006t0002g0005 others(1): Show |
4 | 248 | 0.0161 | -18 | c.924 others(33): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30026961 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01517.hp2 others(12): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0003c0014others(3): Show | a0002c0002t0002a0003c0003t0002a0003c0014t0002others(3): Show | a0002c0002t0002g0036 a0003c0003t0002g0140 a0003c0003t0002g0141 others(12): Show |
15 | 248 | 0.0605 | -18 | c.104 others(37): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30096983 | TATATACA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp1 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 |
3 | 248 | 0.0121 | -18 | c.432 others(37): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43524509 | CGTGTGTG others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02615.hp2 others(9): Show |
a0001a0002a0019others(3): Show | a0001c0001a0002c0002a0019c0032others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0083 a0001c0001t0002g0006 a0001c0001t0002g0007 others(9): Show |
12 | 290 | 0.0414 | -18 | c.*43 others(29): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 4268 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43589280 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01243.hp2 HG01346.hp1 others(14): Show |
a0006a0025a0026 | a0006c0006a0025c0036a0026c0045 | a0006c0006t0001a0025c0036t0001a0026c0045t0001 | a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(14): Show |
17 | 290 | 0.0586 | -18 | c.303 others(35): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 24/31 | chr22 | TogoVar | |||||||
EFCAB6_chr22_43523778_43817305 | 43626043 | GTATGTAT others(11): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18951.hp2 |
a0001a0030 | a0001c0001a0030c0037 | a0001c0001t0001a0030c0037t0001 | a0001c0001t0001g0190 a0030c0037t0001g0235 |
2 | 290 | 0.0069 | -18 | c.246 others(35): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 20/31 | chr22 | TogoVar | |||||||
EFCAB7_chr1_63518525_63577693 | 63562445 | TTATTTAT others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(17): Show |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0026 others(12): Show |
20 | 374 | 0.0535 | -18 | c.149 others(35): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32860493 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0261 | 1 | 284 | 0.0035 | -18 | c.-11 others(35): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFCAB8_chr20_32853923_32966845 | 32963056 | CACTTGAT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 NA18961.hp2 NA18962.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0002 | a0001c0001t0001g0163 a0001c0001t0009g0114 a0002c0002t0002g0038 others(1): Show |
4 | 284 | 0.0141 | -18 | c.*14 others(29): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 1212 | chr20 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19908592 | GAGAGAGA others(11): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 344 | 0.0029 | -18 | c.128 others(37): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EFHB_chr3_19874472_19939217 | 19934299 | TTCTCTCT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 344 | 0.0029 | -18 | c.-29 others(27): Show |
EFHB | ENSG00000163576.18 | transcript | ENST00000295824.14 | protein_coding | 83 | chr3 | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44209019 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02040.hp1 HG02280.hp1 HG02572.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0215 a0001c0001t0003g0136 a0001c0001t0003g0171 others(6): Show |
9 | 221 | 0.0407 | -18 | c.175 others(39): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44251597 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0148 a0001c0001t0012g0032 a0001c0001t0012g0033 |
3 | 221 | 0.0136 | -18 | c.607 others(35): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 4/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44282629 | GGGGGGGG others(11): Show |
G | intron_variant | MODIFIER | HG02165.hp2 NA18939.hp2 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0118 a0002c0002t0007g0216 |
2 | 221 | 0.0091 | -18 | c.232 others(35): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44294249 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0061 | 1 | 221 | 0.0045 | -18 | c.231 others(37): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 2/14 | chrX | TogoVar | |||||||
EFL1_chr15_82125233_82267734 | 82185169 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02273.hp2 HG02895.hp1 others(1): Show |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0188 a0004c0006t0001g0189 a0004c0006t0001g0191 others(1): Show |
4 | 368 | 0.0109 | -18 | c.175 others(39): Show |
EFL1 | ENSG00000140598.16 | transcript | ENST00000268206.12 | protein_coding | 15/19 | chr15 | TogoVar | |||||||
EFNA1_chr1_155122876_155139899 | 155129539 | ACACACAC others(11): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 350 | 0.0029 | -18 | c.92+ others(33): Show |
EFNA1 | ENSG00000169242.12 | transcript | ENST00000368407.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482808 | CTCTCTGT others(11): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0140 | 1 | 190 | 0.0053 | -18 | c.126 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482856 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(3): Show | a0001c0001t0002g0069 a0001c0001t0002g0120 a0001c0001t0003g0183 others(4): Show |
7 | 190 | 0.0368 | -18 | c.126 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482858 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02723.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0032 a0001c0001t0004g0040 a0001c0001t0004g0073 others(9): Show |
12 | 190 | 0.0632 | -18 | c.126 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482860 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0124 a0001c0001t0001g0133 a0001c0001t0001g0136 others(25): Show |
28 | 190 | 0.1474 | -18 | c.126 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107482862 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01361.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(5): Show | a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0002g0152 others(6): Show |
9 | 190 | 0.0474 | -18 | c.126 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107606538 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0015 | 1 | 190 | 0.0053 | -18 | c.125 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107631256 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0046 | a0001c0001t0004g0040 a0001c0001t0011g0038 a0001c0001t0046g0037 |
3 | 190 | 0.0158 | -18 | c.125 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNA5_chr5_107371894_107675937 | 107660261 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0090 | a0001c0001t0004g0040 a0001c0001t0011g0038 a0001c0001t0090g0039 |
3 | 190 | 0.0158 | -18 | c.125 others(37): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNB1_chrX_68824021_68847160 | 68831504 | CGTTGTGA others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0043 a0001c0001t0002g0127 a0001c0001t0003g0007 others(17): Show |
33 | 335 | 0.0985 | -18 | c.128 others(35): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EFNB1_chrX_68824021_68847160 | 68838160 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011 | a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0115 others(2): Show |
7 | 335 | 0.0209 | -18 | c.129 others(33): Show |
EFNB1 | ENSG00000090776.6 | transcript | ENST00000204961.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132008846 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 2 | 412 | 0.0049 | -18 | c.236 others(37): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132010405 | GAGATATA others(11): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | -18 | c.236 others(35): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3A_chr8_131899093_132018642 | 132010407 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02056.hp2 | a0009 | a0009c0017 | a0009c0017t0002 | a0009c0017t0002g0317 | 1 | 412 | 0.0024 | -18 | c.236 others(35): Show |
EFR3A | ENSG00000132294.15 | transcript | ENST00000254624.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25124277 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0049a0001c0001t0051 | a0001c0001t0019g0123 a0001c0001t0019g0124 a0001c0001t0049g0059 others(1): Show |
4 | 306 | 0.0131 | -18 | c.485 others(35): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25128960 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0005 | a0005c0014 | a0005c0014t0045 | a0005c0014t0045g0272 | 1 | 306 | 0.0033 | -18 | c.635 others(33): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EFR3B_chr2_25037076_25164135 | 25129343 | CGGGGGCG others(11): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02970.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0048a0001c0001t0051a0001c0003t0027 | a0001c0001t0048g0218 a0001c0001t0051g0125 a0001c0003t0027g0184 |
3 | 306 | 0.0098 | -18 | c.636 others(33): Show |
EFR3B | ENSG00000084710.14 | transcript | ENST00000403714.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFL6_chrX_13564601_13638575 | 13577296 | TTTTATAT others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp2 HG03195.hp2 others(2): Show |
a0001a0002a0010 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0002a0001c0008t0001a0002c0003t0004others(1): Show | a0001c0001t0002g0038 a0001c0008t0001g0295 a0002c0003t0004g0051 others(2): Show |
5 | 302 | 0.0166 | -18 | c.74+ others(33): Show |
EGFL6 | ENSG00000198759.12 | transcript | ENST00000361306.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EGFL7_chr9_136657916_136677678 | 136662481 | CCAAGCTC others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0016 | 1 | 432 | 0.0023 | -18 | c.-97 others(27): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 434 | chr9 | TogoVar | |||||||
EGFLAM_chr5_38253559_38470480 | 38349952 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0005 | 1 | 190 | 0.0053 | -18 | c.292 others(33): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EGFLAM_chr5_38253559_38470480 | 38357299 | CCAGGCAA others(11): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0048 | 1 | 190 | 0.0053 | -18 | c.545 others(35): Show |
EGFLAM | ENSG00000164318.18 | transcript | ENST00000322350.10 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55027989 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0018a0001c0005t0003 | a0001c0001t0018g0012 a0001c0001t0018g0013 a0001c0001t0018g0014 others(1): Show |
4 | 250 | 0.0160 | -18 | c.88+ others(33): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EGF_chr4_109907883_110018766 | 109919287 | GTCTCTCT others(11): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG02015.hp1 others(38): Show |
a0001a0003a0017 | a0001c0001a0001c0016a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0016t0002others(5): Show | a0001c0001t0002g0072 a0001c0001t0004g0019 a0001c0016t0002g0039 others(37): Show |
41 | 388 | 0.1057 | -18 | c.127 others(35): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
EGLN1_chr1_231358756_231427287 | 231359053 | ATTATATA others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03195.hp1 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0114 a0002c0002t0005g0115 a0002c0002t0005g0119 |
3 | 338 | 0.0089 | -18 | c.*73 others(29): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4702 | chr1 | TogoVar | |||||||
EGLN1_chr1_231358756_231427287 | 231359054 | TTATATAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp2 HG01952.hp2 HG03688.hp1 others(8): Show |
a0001a0005a0009 | a0001c0001a0005c0005a0009c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0250 a0001c0001t0001g0308 others(7): Show |
11 | 338 | 0.0325 | -18 | c.*73 others(29): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4701 | chr1 | TogoVar | |||||||
EGLN1_chr1_231358756_231427287 | 231359093 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0304 | 1 | 338 | 0.0030 | -18 | c.*73 others(29): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 4662 | chr1 | TogoVar | |||||||
EGLN1_chr1_231358756_231427287 | 231412011 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 338 | 0.0030 | -18 | c.891 others(35): Show |
EGLN1 | ENSG00000135766.9 | transcript | ENST00000366641.4 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
EHBP1_chr2_62700713_63051487 | 62820737 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 198 | 0.0051 | -18 | c.313 others(35): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62830153 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG01175.hp2 HG01257.hp1 HG02040.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(8): Show |
11 | 198 | 0.0556 | -18 | c.495 others(33): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 62975887 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 198 | 0.0051 | -18 | c.246 others(37): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHBP1_chr2_62700713_63051487 | 63026294 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 198 | 0.0051 | -18 | c.310 others(39): Show |
EHBP1 | ENSG00000115504.15 | transcript | ENST00000431489.6 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |