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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP1_chr18_3491032_4460307 | 3728322 | ATATATAC others(38): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0034 | 1 | 80 | 0.0125 | -45 | c.159 others(62): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 802065 | CCCTCCTG others(38): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG02258.hp2 HG02818.hp2 others(3): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0010a0001c0003t0006others(3): Show | a0001c0002t0001g0015 a0001c0002t0010g0008 a0001c0003t0006g0033 others(3): Show |
6 | 40 | 0.1500 | -45 | c.18+ others(62): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1215405 | AGGGTGCA others(38): Show |
A | intron_variant | MODIFIER | HG02071.hp1 HG02818.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0004others(1): Show | a0001c0002t0006a0002c0001t0002a0002c0001t0005others(2): Show | a0001c0002t0006g0011 a0002c0001t0002g0032 a0002c0001t0005g0035 others(2): Show |
5 | 40 | 0.1250 | -45 | c.74- others(62): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1405924 | CCTCCTTG others(38): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG03486.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0023a0001c0012t0012 | a0001c0002t0023g0005 a0001c0012t0012g0006 |
2 | 40 | 0.0500 | -45 | c.107 others(64): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(38): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(93): Show |
a0001a0007a0010 | a0001c0001a0001c0007a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0040a0001c0007t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(25): Show |
96 | 416 | 0.2308 | -45 | c.*23 others(54): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 239 | chr19 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 756074 | CGGTGCAG others(38): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0320 | 1 | 378 | 0.0027 | -45 | c.125 others(62): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225403850 | GGATCCCC others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01515.hp2 NA20752.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0001g0149 |
3 | 240 | 0.0125 | -45 | c.*45 others(56): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 4565 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78541029 | GTGGGTGG others(38): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0061 | a0061c0198 | a0061c0198t0008 | a0061c0198t0008g0108 | 1 | 252 | 0.0040 | -45 | c.253 others(64): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38874137 | TTCTCTTT others(38): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00733.hp1 others(26): Show |
a0001a0003a0005others(10): Show | a0001c0035a0001c0040a0003c0006others(17): Show | a0001c0035t0001a0001c0040t0002a0003c0006t0001others(17): Show | a0001c0035t0001g0166 a0001c0040t0002g0133 a0003c0006t0001g0095 others(26): Show |
29 | 284 | 0.1021 | -45 | c.762 others(62): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAJB5_chr9_34984745_35003428 | 34987862 | CATCCCTC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0031 |
2 | 450 | 0.0044 | -45 | c.-21 others(56): Show |
DNAJB5 | ENSG00000137094.16 | transcript | ENST00000682809.1 | protein_coding | 1882 | chr9 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229554857 | AAAGAGAA others(38): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0134 | 1 | 176 | 0.0057 | -45 | c.848 others(62): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
DNM1L_chr12_32674301_32750650 | 32717383 | AATATATA others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01123.hp1 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0013a0001c0002t0016others(1): Show | a0001c0002t0002g0001 a0001c0002t0002g0016 a0001c0002t0002g0020 others(21): Show |
25 | 230 | 0.1087 | -45 | c.620 others(62): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 50970846 | AAGTTTCT others(38): Show |
A | intron_variant | MODIFIER | HG03225.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0182 |
2 | 212 | 0.0094 | -45 | c.315 others(64): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | chr3 | TogoVar | |||||||
DOCK3_chr3_50669927_51389198 | 51041178 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 212 | 0.0047 | -45 | c.316 others(64): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOP1B_chr21_36151824_36299274 | 36257771 | GAGATGTA others(38): Show |
G | intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0228 | 1 | 292 | 0.0034 | -45 | c.526 others(64): Show |
DOP1B | ENSG00000142197.13 | transcript | ENST00000691173.1 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154431442 | CTTTCTTT others(38): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(13): Show | a0001c0001t0001g0019 a0001c0001t0005g0032 a0001c0001t0016g0005 others(13): Show |
16 | 38 | 0.4211 | -45 | c.244 others(64): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154778833 | TGTACAAC others(38): Show |
T | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0030 | 1 | 38 | 0.0263 | -45 | c.113 others(64): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | chr7 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97323550 | CATATATG others(38): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03491.hp1 NA19030.hp2 |
a0007a0011 | a0007c0008a0011c0011 | a0007c0008t0001a0007c0008t0002a0011c0011t0004 | a0007c0008t0001g0040 a0007c0008t0002g0038 a0011c0011t0004g0049 |
3 | 52 | 0.0577 | -45 | c.205 others(66): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 16/22 | chr1 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132187339 | CGGCCCTG others(38): Show |
C | intron_variant | MODIFIER | HG00735.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0198 a0001c0001t0008g0199 |
2 | 418 | 0.0048 | -45 | c.39+ others(58): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117486307 | AGTGGATG others(38): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0018 | a0001c0018t0002 | a0001c0018t0002g0087 | 1 | 194 | 0.0052 | -45 | c.236 others(64): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117486360 | TGAAAGTG others(38): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03098.hp1 NA18522.hp2 |
a0001a0002 | a0001c0011a0001c0023a0002c0062 | a0001c0011t0004a0001c0023t0001a0002c0062t0002 | a0001c0011t0004g0064 a0001c0023t0001g0062 a0002c0062t0002g0193 |
3 | 194 | 0.0155 | -45 | c.236 others(64): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 11/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117577437 | TTTCCTTC others(38): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG02056.hp2 others(20): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0009others(15): Show | a0001c0005t0001a0001c0007t0001a0001c0009t0002others(16): Show | a0001c0005t0001g0096 a0001c0005t0001g0099 a0001c0007t0001g0111 others(20): Show |
23 | 194 | 0.1186 | -45 | c.512 others(64): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31457540 | TTTCTTTC others(38): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02647.hp2 HG02818.hp2 others(1): Show |
a0001a0008 | a0001c0003a0001c0011a0008c0012 | a0001c0003t0028a0001c0011t0030a0008c0012t0027 | a0001c0003t0028g0201 a0001c0003t0028g0203 a0001c0011t0030g0243 others(1): Show |
4 | 346 | 0.0116 | -45 | c.216 others(60): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DSPP_chr4_87603529_87621873 | 87615783 | GATAGCAG others(38): Show |
G | disruptive_inframe_deletion | MODERATE | HG01928.hp1 | a0034 | a0034c0054 | a0034c0054t0001 | a0034c0054t0001g0026 | 1 | 450 | 0.0022 | -45 | c.313 others(54): Show |
p.Asp others(15): Show |
DSPP | ENSG00000152591.15 | transcript | ENST00000651931.1 | protein_coding | 5/5 | 3258/4331 | 3138/3906 | 1046/1301 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
DTD1_chr20_18583054_18771644 | 18708228 | TATTTTAT others(38): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0003 | 1 | 398 | 0.0025 | -45 | c.478 others(64): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | chr20 | TogoVar | |||||||
DTHD1_chr4_36276616_36352511 | 36332187 | AAAAATAA others(38): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00735.hp2 others(33): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0004a0001c0033others(5): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(11): Show | a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0206 others(33): Show |
36 | 308 | 0.1169 | -45 | c.234 others(64): Show |
DTHD1 | ENSG00000197057.10 | transcript | ENST00000639862.2 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DUT_chr15_48326429_48348373 | 48330409 | CTTAGTAC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00673.hp1 others(45): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0062 others(5): Show |
48 | 388 | 0.1237 | -45 | c.-11 others(56): Show |
DUT | ENSG00000128951.14 | transcript | ENST00000331200.8 | protein_coding | 1019 | chr15 | TogoVar | |||||||
DZIP1_chr13_95573202_95649706 | 95643211 | CGGGGAAT others(38): Show |
C | splice_region_variant | LOW | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0011 | 1 | 382 | 0.0026 | -45 | c.-42 others(54): Show |
DZIP1 | ENSG00000134874.18 | transcript | ENST00000376829.7 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133377838 | GAGCCAGC others(38): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0160 | 1 | 354 | 0.0028 | -45 | c.-45 others(56): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 4485 | chr10 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTATT others(38): Show |
G | upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0100 | 1 | 226 | 0.0044 | -45 | c.-40 others(56): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36271839 | CTATTCTA others(38): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(12): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0116 a0001c0001t0001g0175 a0001c0001t0001g0184 others(12): Show |
15 | 346 | 0.0434 | -45 | c.931 others(62): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3L_chr22_37844419_37894407 | 37891039 | ATTCTCCT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(82): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0002a0001c0003t0002a0001c0006t0002others(2): Show | a0001c0002t0002g0005 a0001c0002t0002g0014 a0001c0002t0002g0015 others(79): Show |
85 | 318 | 0.2673 | -45 | c.*25 others(56): Show |
EIF3L | ENSG00000100129.18 | transcript | ENST00000652021.1 | protein_coding | 1633 | chr22 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20816322 | GCGGGGGG others(38): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001a0005a0012others(1): Show | a0001c0001a0005c0007a0012c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0114 a0001c0001t0001g0199 a0001c0001t0001g0227 others(61): Show |
64 | 312 | 0.2051 | -45 | c.451 others(64): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 34/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3304492 | GTCCCATC others(38): Show |
G | intron_variant | MODIFIER | HG02572.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0027 a0001c0001t0004g0026 |
2 | 250 | 0.0080 | -45 | c.259 others(64): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELK4_chr1_205602943_205637011 | 205631509 | CCGGCCCC others(38): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02135.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0077 | a0001c0002t0002g0260 a0001c0002t0077g0259 |
2 | 424 | 0.0047 | -45 | c.-10 others(59): Show |
ELK4 | ENSG00000158711.14 | transcript | ENST00000357992.9 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306314 | GGAGAGGG others(38): Show |
G | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 320 | 0.0031 | -45 | c.-8- others(62): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306342 | GGAGAGGG others(38): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0303 | 1 | 320 | 0.0031 | -45 | c.-8- others(62): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819059 | GGGAGGGG others(38): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0163 | 1 | 258 | 0.0039 | -45 | c.-85 others(64): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819069 | GGGAGGGG others(38): Show |
G | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0130 | 1 | 258 | 0.0039 | -45 | c.-85 others(64): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819089 | GGGAGGGG others(38): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0101 a0001c0001t0005g0008 a0001c0001t0005g0011 others(10): Show |
14 | 258 | 0.0543 | -45 | c.-85 others(64): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796326 | ATTATATA others(38): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0013a0001c0010t0013 | a0001c0003t0013g0298 a0001c0003t0013g0299 a0001c0003t0013g0300 others(1): Show |
4 | 332 | 0.0121 | -45 | c.-38 others(56): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3374 | chr14 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54956237 | GTTTGTTT others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(244): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(33): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(96): Show | a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0063 others(244): Show |
247 | 264 | 0.9356 | -45 | c.448 others(64): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667208 | GTGATGGA others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0011 | 2 | 418 | 0.0048 | -45 | c.*70 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3109 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667411 | GTGATGGT others(38): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp1 NA20129.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0091 a0002c0002t0005g0132 a0002c0002t0005g0256 |
3 | 418 | 0.0072 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2906 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667418 | TGATGGTG others(38): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 418 | 0.0024 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2899 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667430 | AGATGGTG others(38): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02698.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0282 a0001c0001t0002g0088 a0001c0001t0002g0229 |
3 | 418 | 0.0072 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2887 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667454 | TGATGATG others(38): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0107 a0001c0001t0006g0226 |
2 | 418 | 0.0048 | -45 | c.*68 others(56): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2863 | chr18 | TogoVar | |||||||
EPHA3_chr3_89102621_89487134 | 89211725 | TTTCTTCT others(38): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 NA19010.hp1 |
a0002a0004a0006 | a0002c0003a0004c0007a0006c0010 | a0002c0003t0003a0004c0007t0005a0006c0010t0005 | a0002c0003t0003g0026 a0004c0007t0005g0004 a0006c0010t0005g0002 |
3 | 200 | 0.0150 | -45 | c.814 others(62): Show |
EPHA3 | ENSG00000044524.11 | transcript | ENST00000336596.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EPHA4_chr2_221413027_221577304 | 221566912 | AGGAGAAG others(38): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0285 a0001c0001t0011g0240 a0001c0001t0011g0241 |
3 | 294 | 0.0102 | -45 | c.159 others(62): Show |
EPHA4 | ENSG00000116106.12 | transcript | ENST00000281821.7 | protein_coding | 2/17 | chr2 | TogoVar | |||||||
EPHA5_chr4_65314567_65675489 | 65576034 | GAAAGAAA others(38): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0155 | 1 | 234 | 0.0043 | -45 | c.910 others(64): Show |
EPHA5 | ENSG00000145242.14 | transcript | ENST00000613740.5 | protein_coding | 3/16 | chr4 | TogoVar |