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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 276 | 0.0036 | 45 | c.229 others(62): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18985.hp2 |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0001a0003c0004t0001 | a0001c0005t0001g0133 a0003c0004t0001g0146 |
2 | 277 | 0.0072 | 45 | c.229 others(62): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149 | 1 | 276 | 0.0036 | 45 | c.229 others(62): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20980229 | T | TATTATAT others(38): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0040 | a0040c0092 | a0040c0092t0001 | a0040c0092t0001g0043 | 1 | 232 | 0.0043 | 45 | c.772 others(62): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 49/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020349 | T | TGTGTATA others(38): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02896.hp1 |
a0001a0028 | a0001c0022a0028c0073 | a0001c0022t0001a0028c0073t0001 | a0001c0022t0001g0162 a0028c0073t0001g0155 |
2 | 231 | 0.0087 | 45 | c.563 others(62): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21020351 | T | TGTATATA others(38): Show |
intron_variant | MODIFIER | HG03486.hp1 NA20300.hp2 |
a0001 | a0001c0011a0001c0095 | a0001c0011t0001a0001c0095t0001 | a0001c0011t0001g0121 a0001c0095t0001g0079 |
2 | 232 | 0.0086 | 45 | c.563 others(62): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | |||||||
DNAH3_chr16_20928111_21155846 | 21067772 | G | GGGGGGGA others(38): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0017 |
2 | 171 | 0.0117 | 45 | c.324 others(62): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 23/61 | chr16 | TogoVar | |||||||
DNAJB13_chr11_73946026_73975281 | 73974851 | A | AGAAAGAG others(38): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp1 others(124): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0298 a0001c0002t0001g0104 a0001c0002t0001g0105 others(93): Show |
127 | 434 | 0.2926 | 45 | c.*47 others(56): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 4571 | chr11 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157357213 | T | TTCGTTCG others(38): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show |
5 | 314 | 0.0159 | 45 | c.-26 others(62): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 1/9 | chr7 | TogoVar | |||||||
DNAJC13_chr3_132412502_132544032 | 132543149 | C | CCTGAAGT others(38): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 316 | 0.0032 | 45 | c.*48 others(56): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 4118 | chr3 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(38): Show |
downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 233 | 0.0043 | 45 | c.*29 others(56): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(38): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 233 | 0.0043 | 45 | c.*29 others(56): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNAJC4_chr11_64225548_64239281 | 64237126 | G | GAGAGAGA others(38): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 233 | 0.0043 | 45 | c.*29 others(56): Show |
DNAJC4 | ENSG00000110011.14 | transcript | ENST00000628077.3 | protein_coding | 2846 | chr11 | TogoVar | |||||||
DNLZ_chr9_136354483_136368744 | 136355530 | G | GTGACACG others(38): Show |
downstream_gene_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0008 | 1 | 416 | 0.0024 | 45 | c.*64 others(56): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 3952 | chr9 | TogoVar | |||||||
DNM3_chr1_171836498_172417717 | 172337866 | T | TTTTATTT others(38): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0132 | 1 | 42 | 0.0238 | 45 | c.189 others(66): Show |
DNM3 | ENSG00000197959.15 | transcript | ENST00000627582.3 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300707 | A | ACATATAT others(38): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0061 | a0001c0001t0027g0011 a0001c0001t0061g0010 |
2 | 272 | 0.0074 | 45 | c.73- others(58): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 127093214 | C | CTTTCTTT others(38): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0135 | 1 | 131 | 0.0076 | 45 | c.244 others(66): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127093240 | T | TTTCTTTC others(38): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0088 | 1 | 133 | 0.0075 | 45 | c.244 others(66): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 23/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 127347832 | G | GCCTTCCC others(38): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0035 | a0002c0035t0003 | a0002c0035t0003g0053 | 1 | 93 | 0.0108 | 45 | c.322 others(64): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 31/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51168932 | G | GTATAGAC others(38): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0164 | 1 | 210 | 0.0048 | 45 | c.103 others(64): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400070 | T | TCACCACC others(38): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0252 | 1 | 209 | 0.0048 | 45 | c.323 others(62): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400356 | C | CACCATCA others(38): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0021 | a0021c0126 | a0021c0126t0002 | a0021c0126t0002g0122 | 1 | 233 | 0.0043 | 45 | c.323 others(64): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400356 | C | CACCATCA others(38): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0062 | a0001c0062t0002 | a0001c0062t0002g0163 | 1 | 233 | 0.0043 | 45 | c.323 others(64): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | chr9 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89630617 | A | AGCGGGGC others(38): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0085 | 1 | 248 | 0.0040 | 45 | c.104 others(60): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89630625 | C | CTGGGGGT others(38): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 219 | 0.0046 | 45 | c.104 others(60): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89630625 | C | CTGGGGGT others(38): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(25): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(25): Show |
28 | 246 | 0.1138 | 45 | c.104 others(60): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634913 | C | CCCTTCCT others(38): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 218 | 0.0046 | 45 | c.105 others(60): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635018 | C | CCCTTTCC others(38): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 200 | 0.0050 | 45 | c.105 others(60): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 55 | 0.0182 | 45 | c.312 others(64): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPH6_chr15_35365880_35551165 | 35496567 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0032 | 1 | 55 | 0.0182 | 45 | c.312 others(64): Show |
DPH6 | ENSG00000134146.12 | transcript | ENST00000256538.9 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154894431 | A | ACCAGGGA others(38): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0004 | 1 | 38 | 0.0263 | 45 | c.*19 others(56): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 147 | chr7 | TogoVar | |||||||
DPT_chr1_168690468_168734206 | 168725215 | A | ATTCCTTT others(38): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00642.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0056 a0001c0001t0001g0057 others(34): Show |
56 | 179 | 0.3128 | 45 | c.305 others(62): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
DPY19L4_chr8_94714900_94798836 | 94754374 | T | TTATTGCT others(38): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0247 | 1 | 288 | 0.0035 | 45 | c.612 others(62): Show |
DPY19L4 | ENSG00000156162.16 | transcript | ENST00000414645.6 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556265 | A | ATATATAG others(38): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0070 | 1 | 169 | 0.0059 | 45 | c.355 others(64): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0220 | 1 | 259 | 0.0039 | 45 | c.342 others(62): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAAAATAT others(38): Show |
intron_variant | MODIFIER | HG03942.hp1 HG04228.hp2 NA19000.hp1 others(1): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0007a0002c0005t0011 | a0002c0005t0001g0110 a0002c0005t0001g0271 a0002c0005t0007g0011 others(1): Show |
4 | 262 | 0.0153 | 45 | c.342 others(62): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421897 | A | AAATATAT others(38): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19001.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0219 a0002c0005t0001g0273 |
2 | 260 | 0.0077 | 45 | c.342 others(62): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(38): Show |
intron_variant | MODIFIER | HG01934.hp1 HG03239.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 a0001c0002t0001g0235 |
2 | 113 | 0.0177 | 45 | c.342 others(62): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DROSHA_chr5_31395494_31537093 | 31421917 | C | CATATATA others(38): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02976.hp1 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0001a0003c0006t0003 | a0001c0002t0001g0209 a0003c0006t0003g0292 |
2 | 130 | 0.0154 | 45 | c.342 others(62): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509104 | C | CCATATAT others(38): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0271 others(1): Show |
4 | 347 | 0.0115 | 45 | c.-18 others(64): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
DYNC1LI1_chr3_32520974_32575858 | 32537937 | A | ATAATTTA others(38): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 297 | 0.0034 | 45 | c.739 others(60): Show |
DYNC1LI1 | ENSG00000144635.9 | transcript | ENST00000273130.9 | protein_coding | 5/12 | chr3 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25870009 | C | CTGGGCAT others(38): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0154 | 1 | 218 | 0.0046 | 45 | c.101 others(64): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 10/15 | chr8 | TogoVar | |||||||
ECHDC3_chr10_11737382_11769070 | 11742311 | G | GGGGGCGG others(38): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG02056.hp2 others(20): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0002t0002a0004c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0002t0002g0001 a0001c0002t0002g0016 others(13): Show |
23 | 197 | 0.1168 | 45 | c.-26 others(54): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 70 | chr10 | TogoVar | |||||||
ECHDC3_chr10_11737382_11769070 | 11742311 | G | GGGGGCGG others(38): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01433.hp1 HG02647.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0204 |
3 | 177 | 0.0169 | 45 | c.-26 others(54): Show |
ECHDC3 | ENSG00000134463.15 | transcript | ENST00000379215.9 | protein_coding | 70 | chr10 | TogoVar | |||||||
ECSCR_chr5_139443560_139467743 | 139446465 | T | TTTTCTTT others(38): Show |
downstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 134 | 0.0075 | 45 | c.*24 others(56): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2094 | chr5 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 184 | 0.0054 | 45 | c.400 others(62): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769233 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 184 | 0.0054 | 45 | c.400 others(62): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EFHC2_chrX_44142872_44348672 | 44187135 | G | GATATATA others(38): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 89 | 0.0112 | 45 | c.175 others(64): Show |
EFHC2 | ENSG00000183690.13 | transcript | ENST00000420999.2 | protein_coding | 11/14 | chrX | TogoVar | |||||||
EHD3_chr2_31229152_31274451 | 31245553 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0191 | 1 | 335 | 0.0030 | 45 | c.404 others(62): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EHD3_chr2_31229152_31274451 | 31245553 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0192 | 1 | 335 | 0.0030 | 45 | c.404 others(62): Show |
EHD3 | ENSG00000013016.16 | transcript | ENST00000322054.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |