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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ELOF1_chr19_11548046_11564230 | 11550971 | ACACGACC | A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0033 | a0001c0001t0004g0005 a0001c0001t0004g0114 a0001c0001t0005g0006 others(1): Show |
8 | 410 | 0.0195 | -7 | c.*27 others(18): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 2074 | chr19 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10978299 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG02602.hp2 HG02818.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0009 | a0001c0002t0001g0021 a0001c0002t0001g0285 a0001c0002t0001g0290 others(4): Show |
8 | 352 | 0.0227 | -7 | c.*54 others(18): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 2459 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 10990617 | CACCAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 others(1): Show |
4 | 378 | 0.0106 | -7 | c.506 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 5/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11004416 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(2): Show | a0001c0001t0006g0003 a0001c0001t0006g0020 a0001c0001t0006g0023 others(18): Show |
28 | 361 | 0.0776 | -7 | c.255 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11029223 | CAAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0006a0001c0001t0017a0001c0001t0019others(1): Show | a0001c0001t0006g0003 a0001c0001t0006g0020 a0001c0001t0006g0023 others(14): Show |
21 | 95 | 0.2211 | -7 | c.3+1 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL2_chr6_10975759_11049305 | 11032342 | CAAAAAAA | C | intron_variant | MODIFIER | HG01361.hp2 HG02486.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0297 a0001c0001t0012g0298 a0001c0001t0012g0299 others(3): Show |
6 | 11 | 0.5455 | -7 | c.3+1 others(22): Show |
ELOVL2 | ENSG00000197977.4 | transcript | ENST00000354666.4 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306208 | AAGGGGAG | A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01167.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0061 others(12): Show |
16 | 312 | 0.0513 | -7 | c.-8- others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306312 | AGGGAGAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011 | a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0176 others(33): Show |
36 | 89 | 0.4045 | -7 | c.-8- others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306359 | AGAGAGAG | A | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp2 HG01169.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0160 a0001c0001t0001g0161 |
4 | 317 | 0.0126 | -7 | c.-8- others(24): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084050 | TATATATG | T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0121 others(16): Show |
19 | 331 | 0.0574 | -7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084362 | CATATATG | C | intron_variant | MODIFIER | HG02622.hp2 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0072 | a0001c0001t0026g0216 a0001c0001t0026g0330 a0001c0001t0072g0074 |
3 | 336 | 0.0089 | -7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL6_chr4_110040846_110203615 | 110084497 | TATATATC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02258.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(12): Show | a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(23): Show |
26 | 336 | 0.0774 | -7 | c.221 others(26): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60795975 | TAAGAACA | T | intron_variant | MODIFIER | HG01175.hp2 HG02735.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023 | a0001c0001t0006g0143 a0001c0001t0006g0163 a0001c0001t0006g0202 others(1): Show |
4 | 256 | 0.0156 | -7 | c.-35 others(24): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60800030 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02132.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0147 a0001c0001t0002g0204 others(4): Show |
7 | 74 | 0.0946 | -7 | c.-85 others(22): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP1_chr9_108862517_108939124 | 108872803 | TGAAAAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp2 HG02015.hp2 others(18): Show |
a0002a0003a0018others(1): Show | a0002c0003a0002c0034a0003c0004others(2): Show | a0002c0003t0001a0002c0003t0007a0002c0003t0013others(4): Show | a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0033 others(16): Show |
21 | 288 | 0.0729 | -7 | c.393 others(26): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | |||||||
ELP3_chr8_28088139_28196153 | 28106539 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG02109.hp1 HG02109.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(6): Show |
14 | 64 | 0.2188 | -7 | c.259 others(22): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ELP3_chr8_28088139_28196153 | 28158485 | AAATAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(153): Show |
187 | 396 | 0.4722 | -7 | c.119 others(22): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31561436 | ATTATTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01071.hp1 others(48): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0018 others(48): Show |
51 | 268 | 0.1903 | -7 | c.381 others(26): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ELP4_chr11_31504767_31795324 | 31634630 | AGATAACT | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01071.hp1 others(83): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0018 others(83): Show |
86 | 268 | 0.3209 | -7 | c.927 others(24): Show |
ELP4 | ENSG00000109911.19 | transcript | ENST00000640961.2 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50493072 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0036a0001c0002t0040others(3): Show | a0001c0002t0004g0006 a0001c0002t0036g0034 a0001c0002t0040g0004 others(4): Show |
8 | 157 | 0.0510 | -7 | c.*10 others(20): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 2202 | chr19 | TogoVar | |||||||
EMC3_chr3_9957682_9991841 | 9978145 | TAAAAAAA | T | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01981.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0232 others(9): Show |
15 | 23 | 0.6522 | -7 | c.156 others(22): Show |
EMC3 | ENSG00000125037.13 | transcript | ENST00000245046.7 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
EMCN_chr4_100390341_100523022 | 100475659 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01255.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(5): Show | a0001c0001t0002g0194 a0001c0001t0006g0128 a0001c0001t0006g0132 others(15): Show |
18 | 166 | 0.1084 | -7 | c.188 others(22): Show |
EMCN | ENSG00000164035.10 | transcript | ENST00000296420.9 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
EMID1_chr22_29200896_29264597 | 29207494 | CTCAGAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG02717.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0001 a0002c0002t0004g0026 a0002c0002t0004g0027 others(2): Show |
6 | 346 | 0.0173 | -7 | c.101 others(24): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2849910 | CTTTTTTG | C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0016others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(18): Show | a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0005g0257 others(23): Show |
27 | 450 | 0.0600 | -7 | c.257 others(24): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EMILIN2_chr18_2842006_2921003 | 2881424 | GGGCTCCA | G | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp2 HG02976.hp2 others(5): Show |
a0001a0002a0015others(1): Show | a0001c0001a0001c0002a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0034a0001c0001t0052others(5): Show | a0001c0001t0001g0040 a0001c0001t0034g0426 a0001c0001t0052g0210 others(5): Show |
8 | 450 | 0.0178 | -7 | c.258 others(24): Show |
EMILIN2 | ENSG00000132205.11 | transcript | ENST00000254528.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99889240 | GCAGCAGC | G | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02280.hp2 others(16): Show |
a0001a0005 | a0001c0003a0005c0011 | a0001c0003t0001a0001c0003t0005a0001c0003t0007others(1): Show | a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0217 others(16): Show |
19 | 286 | 0.0664 | -7 | c.519 others(24): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 4/21 | chr14 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99900181 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0003a0005others(1): Show | a0001c0003a0001c0005a0003c0002others(6): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0005others(23): Show | a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0008 others(115): Show |
119 | 226 | 0.5265 | -7 | c.898 others(22): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML2_chr19_45604400_45644397 | 45635583 | CTTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01070.hp1 others(34): Show |
a0003a0005a0011 | a0003c0003a0005c0005a0011c0024 | a0003c0003t0001a0003c0003t0004a0003c0003t0007others(2): Show | a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 others(28): Show |
37 | 302 | 0.1225 | -7 | c.180 others(24): Show |
EML2 | ENSG00000125746.18 | transcript | ENST00000245925.8 | protein_coding | 3/18 | chr19 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42217853 | TCTAAATA | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 a0001c0001t0007g0014 a0001c0001t0007g0015 |
5 | 356 | 0.0140 | -7 | c.26- others(24): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
EML4_chr2_42164353_42337548 | 42306484 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(82): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0001c0010others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(14): Show | a0001c0001t0002g0186 a0001c0001t0003g0118 a0001c0001t0003g0119 others(79): Show |
85 | 174 | 0.4885 | -7 | c.196 others(26): Show |
EML4 | ENSG00000143924.19 | transcript | ENST00000318522.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML5_chr14_88607431_88797953 | 88719327 | AGTGAGCT | A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(101): Show |
a0001a0008a0009 | a0001c0001a0008c0011a0009c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0086 others(99): Show |
104 | 330 | 0.3152 | -7 | c.118 others(26): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 8/43 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796592 | ATTATATG | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01257.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0007 | a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0006g0003 others(4): Show |
8 | 313 | 0.0256 | -7 | c.-40 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3640 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796670 | ATATTATG | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0017a0001c0003t0004a0001c0003t0018others(1): Show | a0001c0001t0017g0010 a0001c0003t0004g0310 a0001c0003t0004g0311 others(5): Show |
8 | 330 | 0.0242 | -7 | c.-41 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3718 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796803 | TTATATAC | T | upstream_gene_variant | MODIFIER | HG00438.hp1 NA18973.hp1 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0003g0028 |
3 | 330 | 0.0091 | -7 | c.-43 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3851 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796853 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01099.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(7): Show | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0280 others(33): Show |
37 | 330 | 0.1121 | -7 | c.-43 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3901 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796885 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(64): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0006a0001c0001t0022a0001c0001t0024others(10): Show | a0001c0001t0006g0208 a0001c0001t0022g0203 a0001c0001t0022g0204 others(64): Show |
67 | 330 | 0.2030 | -7 | c.-43 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3933 | chr14 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796983 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02145.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0026a0001c0001t0027 | a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0014g0006 others(4): Show |
7 | 330 | 0.0212 | -7 | c.-44 others(18): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 4031 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54806612 | CAAAAAAA | C | intron_variant | MODIFIER | HG01978.hp1 HG04204.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0004a0001c0004t0007others(1): Show | a0001c0001t0001g0147 a0001c0002t0004g0066 a0001c0002t0004g0075 others(2): Show |
5 | 9 | 0.5556 | -7 | c.198 others(24): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54914557 | GAAGAGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(223): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0048 a0001c0001t0001g0063 a0001c0001t0001g0076 others(223): Show |
226 | 262 | 0.8626 | -7 | c.349 others(26): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 25/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EMP2_chr16_10523422_10585598 | 10532758 | CTTTTTTT | C | 3_prime_UTR_variant | MODIFIER | NA18947.hp2 NA18963.hp2 NA18978.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0113 | a0001c0001t0013g0057 a0001c0001t0013g0062 a0001c0001t0013g0065 others(4): Show |
7 | 233 | 0.0300 | -7 | c.*14 others(16): Show |
EMP2 | ENSG00000213853.10 | transcript | ENST00000359543.8 | protein_coding | 5/5 | 140 | chr16 | TogoVar | ||||||
EMSY_chr11_76440018_76558031 | 76494654 | CCTTCCTT | C | intron_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG03491.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 a0001c0002t0001g0027 a0001c0002t0001g0035 others(8): Show |
11 | 303 | 0.0363 | -7 | c.115 others(26): Show |
EMSY | ENSG00000158636.17 | transcript | ENST00000695367.1 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ENAH_chr1_225481829_225658123 | 225585215 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01169.hp1 others(26): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0004 | a0001c0001t0003a0001c0001t0015a0001c0001t0017others(13): Show | a0001c0001t0003g0010 a0001c0001t0003g0069 a0001c0001t0003g0070 others(26): Show |
29 | 38 | 0.7632 | -7 | c.6-1 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225590446 | AAAAAAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0023a0001c0001t0054others(2): Show | a0001c0001t0011g0099 a0001c0001t0023g0290 a0001c0001t0054g0199 others(2): Show |
5 | 306 | 0.0163 | -7 | c.6-2 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225604621 | CAAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01261.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(5): Show | a0001c0001t0002g0017 a0001c0001t0002g0090 a0001c0001t0002g0091 others(23): Show |
26 | 234 | 0.1111 | -7 | c.6-3 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENAH_chr1_225481829_225658123 | 225642026 | TAAAAATA | T | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp1 HG01071.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0246 a0001c0001t0003g0257 a0001c0001t0003g0274 others(59): Show |
62 | 306 | 0.2026 | -7 | c.5+1 others(22): Show |
ENAH | ENSG00000154380.19 | transcript | ENST00000366843.7 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
ENDOD1_chr11_95084846_95137645 | 95136599 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG01106.hp1 others(66): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013a0002c0002t0024others(2): Show | a0002c0002t0002g0004 a0002c0002t0002g0014 a0002c0002t0002g0016 others(59): Show |
69 | 278 | 0.2482 | -7 | c.*70 others(18): Show |
ENDOD1 | ENSG00000149218.5 | transcript | ENST00000278505.5 | protein_coding | 3955 | chr11 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127824512 | CTTTTTTT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0110 others(4): Show |
7 | 123 | 0.0569 | -7 | c.992 others(20): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 7/14 | chr9 | TogoVar | |||||||
ENG_chr9_127810016_127859658 | 127857245 | ACAAGACC | A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 others(3): Show |
6 | 342 | 0.0175 | -7 | c.-28 others(18): Show |
ENG | ENSG00000106991.14 | transcript | ENST00000373203.9 | protein_coding | 2588 | chr9 | TogoVar | |||||||
ENHO_chr9_34516043_34527990 | 34526690 | TCCCTCCC | T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00673.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 19 | 414 | 0.0459 | -7 | c.-40 others(18): Show |
ENHO | ENSG00000168913.7 | transcript | ENST00000399775.3 | protein_coding | 3701 | chr9 | TogoVar | |||||||
ENO2_chr12_6909580_6928697 | 6913551 | GTTTGTTT | G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03225.hp2 HG03516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006 | a0001c0001t0003g0009 a0001c0001t0003g0069 a0001c0001t0004g0014 others(1): Show |
6 | 188 | 0.0319 | -7 | c.-11 others(18): Show |
ENO2 | ENSG00000111674.9 | transcript | ENST00000229277.6 | protein_coding | 1028 | chr12 | TogoVar |