view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPP9_chr19_4670227_4728842 | 4672032 | TATATATT others(55): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0063 | 1 | 314 | 0.0032 | -62 | c.*44 others(73): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3194 | chr19 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4672405 | TTATATAT others(55): Show |
T | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0137 | 1 | 314 | 0.0032 | -62 | c.*40 others(73): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 2821 | chr19 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4720120 | GGAGGTTC others(55): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 314 | 0.0032 | -62 | c.-35 others(77): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
DPYD_chr1_97072743_97926034 | 97130774 | TTCCTTTC others(55): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 52 | 0.0192 | -62 | c.262 others(83): Show |
DPYD | ENSG00000188641.14 | transcript | ENST00000370192.8 | protein_coding | 20/22 | chr1 | TogoVar | |||||||
DYNC2I2_chr9_128628653_128661847 | 128656391 | AACGGTGG others(55): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034a0001c0003t0001g0309a0001c0003t0001g0310 | 4 | 368 | 0.0109 | -62 | c.186 others(76): Show |
DYNC2I2 | ENSG00000119333.12 | transcript | ENST00000372715.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
EFCAB9_chr5_172189172_172208454 | 172189807 | GAGAGAGA others(55): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0042a0001c0001t0001g0053others(28): Show | 49 | 408 | 0.1201 | -62 | c.-43 others(73): Show |
EFCAB9 | ENSG00000214360.5 | transcript | ENST00000398186.5 | protein_coding | 4364 | chr5 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378255 | GCTGGGAT others(55): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273 | 1 | 384 | 0.0026 | -62 | c.215 others(79): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378315 | TTCCTGGG others(55): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp1 others(43): Show |
a0002a0012 | a0002c0002a0012c0021 | a0002c0002t0001a0002c0002t0006a0012c0021t0001 | a0002c0002t0001g0001a0002c0002t0001g0014a0002c0002t0001g0015others(37): Show | 46 | 384 | 0.1198 | -62 | c.215 others(79): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2378497 | CGCGAGTG others(55): Show |
C | intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215 | 1 | 384 | 0.0026 | -62 | c.215 others(79): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3M_chr11_32578831_32611264 | 32593235 | GTAAAGAT others(55): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 344 | 0.0029 | -62 | c.534 others(77): Show |
EIF3M | ENSG00000149100.13 | transcript | ENST00000531120.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EIF4A1_chr17_7567825_7584006 | 7571850 | TATATATA others(55): Show |
T | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 436 | 0.0023 | -62 | c.-99 others(71): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 974 | chr17 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20981555 | CATACATA others(55): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(201): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0009a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(201): Show | 204 | 312 | 0.6539 | -62 | c.199 others(77): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20981678 | GTATACAT others(55): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0182 | 2 | 312 | 0.0064 | -62 | c.199 others(77): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 8/36 | chr1 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927704 | TACACACA others(55): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157a0001c0001t0003g0159 | 2 | 314 | 0.0064 | -62 | c.196 others(79): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306230 | AGGGGAGA others(55): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00642.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0049others(37): Show | 42 | 320 | 0.1313 | -62 | c.-8- others(79): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819070 | GGAGGGGA others(55): Show |
G | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 258 | 0.0039 | -62 | c.-85 others(81): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796748 | TTATATGT others(55): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(78): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0086others(76): Show | 81 | 332 | 0.2440 | -62 | c.-43 others(73): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3796 | chr14 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667410 | GGTGATGG others(55): Show |
G | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0358 | 1 | 418 | 0.0024 | -62 | c.*68 others(73): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2907 | chr18 | TogoVar | |||||||
ERC1_chr12_986223_1500931 | 1085143 | TATTATTA others(55): Show |
T | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0003 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1086484 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0045a0001c0001t0067a0002c0002t0047 | a0001c0001t0045g0066a0001c0001t0067g0121a0002c0002t0047g0104 | 3 | 162 | 0.0185 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1087007 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0132 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1087527 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0085a0002c0002t0127 | a0002c0002t0085g0142a0002c0002t0127g0155 | 2 | 162 | 0.0124 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1087907 | TATTATTA others(55): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0132 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1087973 | ATTATTAT others(55): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp1 HG02109.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0006a0002c0002t0078a0005c0010t0082 | a0002c0002t0006g0122a0002c0002t0006g0125a0002c0002t0078g0128others(1): Show | 4 | 162 | 0.0247 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1088115 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG02280.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0110a0001c0001t0111 | a0001c0001t0110g0013a0001c0001t0111g0017 | 2 | 162 | 0.0124 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1088245 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0105 | a0002c0002t0105g0148 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1089795 | TATTATTA others(55): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0009 | a0009c0008 | a0009c0008t0041 | a0009c0008t0041g0140 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1089808 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1090718 | GTTGTTGT others(55): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0024 | 1 | 162 | 0.0062 | -62 | c.108 others(81): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55720133 | CTTCTTCT others(55): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 74 | 0.0135 | -62 | c.271 others(83): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 55720179 | TTCTTCTT others(55): Show |
T | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 74 | 0.0135 | -62 | c.271 others(83): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 700101 | CCGCACAC others(55): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 378 | 0.0027 | -62 | c.170 others(79): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073432 | CTATATAT others(55): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250a0001c0001t0001g0255 | 2 | 442 | 0.0045 | -62 | c.58+ others(77): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ERICH5_chr8_98059568_98098609 | 98073454 | ATATATGT others(55): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0370 | 1 | 442 | 0.0023 | -62 | c.58+ others(77): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238110353 | TCCCATTT others(55): Show |
T | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0043 | a0001c0043t0004 | a0001c0043t0004g0118 | 1 | 408 | 0.0025 | -62 | c.855 others(79): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ETNPPL_chr4_108737053_108768053 | 108747132 | ATATATAT others(55): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp1 HG03942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123a0001c0001t0001g0180a0001c0001t0001g0216others(3): Show | 6 | 378 | 0.0159 | -62 | c.108 others(79): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747147 | TAATATAT others(55): Show |
T | intron_variant | MODIFIER | NA18612.hp1 NA18943.hp2 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0219a0001c0001t0001g0235others(2): Show | 6 | 378 | 0.0159 | -62 | c.108 others(79): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747148 | AATATATA others(55): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02074.hp1 HG02523.hp2 others(5): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0037a0001c0001t0001g0121a0001c0001t0001g0122others(5): Show | 8 | 378 | 0.0212 | -62 | c.108 others(79): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747164 | TTATATAT others(55): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03017.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0198a0001c0001t0001g0213others(3): Show | 6 | 378 | 0.0159 | -62 | c.108 others(79): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747180 | AATATATA others(55): Show |
A | intron_variant | MODIFIER | HG01934.hp1 NA18969.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0176 | 3 | 378 | 0.0079 | -62 | c.108 others(79): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETNPPL_chr4_108737053_108768053 | 108747194 | TTATATAT others(55): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199a0001c0001t0001g0222a0001c0001t0001g0223others(1): Show | 4 | 378 | 0.0106 | -62 | c.108 others(79): Show |
ETNPPL | ENSG00000164089.9 | transcript | ENST00000296486.8 | protein_coding | 9/12 | chr4 | TogoVar | |||||||
ETS1_chr11_128453765_128592558 | 128585062 | AAGAAAGA others(55): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0173a0001c0001t0001g0174a0001c0001t0002g0001others(9): Show | 13 | 286 | 0.0455 | -62 | c.-15 others(79): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ETV3_chr1_157116191_157143395 | 157126852 | AAGAGCTG others(55): Show |
A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 404 | 0.0025 | -62 | c.401 others(77): Show |
ETV3 | ENSG00000117036.12 | transcript | ENST00000368192.9 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
EVA1C_chr21_32407706_32520387 | 32477781 | CCCTCCCC others(55): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02258.hp1 HG02818.hp1 others(1): Show |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0001a0003c0012t0001 | a0001c0002t0001g0060a0003c0012t0001g0143a0003c0012t0001g0144others(1): Show | 4 | 346 | 0.0116 | -62 | c.634 others(81): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EXPH5_chr11_108500435_108598768 | 108586556 | CCTTTCCT others(55): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(62): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0002c0028others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(20): Show | a0001c0001t0001g0140a0001c0001t0001g0157a0001c0001t0001g0167others(61): Show | 65 | 314 | 0.2070 | -62 | c.119 others(79): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EZR_chr6_158760748_158824368 | 158803544 | TGTATATA others(55): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01255.hp1 HG02738.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0117a0001c0001t0001g0126others(2): Show | 5 | 312 | 0.0160 | -62 | c.13- others(79): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | |||||||
FA2H_chr16_74707969_74779820 | 74775880 | GCAGCCTC others(55): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(61): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0001c0006others(4): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(16): Show | a0001c0003t0001g0308a0001c0003t0001g0315a0001c0003t0001g0316others(58): Show | 64 | 388 | 0.1650 | -62 | c.-11 others(73): Show |
FA2H | ENSG00000103089.9 | transcript | ENST00000219368.8 | protein_coding | 1061 | chr16 | TogoVar | |||||||
FAM20A_chr17_68530116_68606367 | 68571939 | AATATATA others(55): Show |
A | intron_variant | MODIFIER | NA18959.hp2 NA19059.hp1 NA19064.hp1 |
a0001a0002 | a0001c0004a0002c0008 | a0001c0004t0004a0002c0008t0001 | a0001c0004t0004g0045a0001c0004t0004g0048a0002c0008t0001g0034 | 3 | 380 | 0.0079 | -62 | c.405 others(81): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1640715 | GTGGCCCC others(55): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02886.hp1 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0030 | a0002c0003t0030g0135a0002c0003t0030g0147 | 2 | 350 | 0.0057 | -62 | c.*51 others(71): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 5/5 | 516 | chr4 | TogoVar | ||||||
FAM53A_chr4_1634887_1689313 | 1640769 | TGGCAGCC others(55): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0222 | 1 | 350 | 0.0029 | -62 | c.*46 others(71): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 5/5 | 462 | chr4 | TogoVar |