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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERAP1_chr5_96769484_96812945 | 96787781 | ATATTATA others(38): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0200 | 1 | 416 | 0.0024 | -45 | c.167 others(62): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 11/18 | chr5 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073500 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG03491.hp2 HG03492.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0088 a0001c0001t0001g0109 others(4): Show |
8 | 442 | 0.0181 | -45 | c.58+ others(60): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
ETDB_chrX_135113955_135125526 | 135114243 | TAATTCAT others(38): Show |
T | downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 314 | 0.0032 | -45 | c.*47 others(56): Show |
ETDB | ENSG00000224107.5 | transcript | ENST00000423661.1 | protein_coding | 4711 | chrX | TogoVar | |||||||
ETS2_chr21_38800929_38829955 | 38816012 | AGGGAGGG others(38): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG04184.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0189 a0001c0002t0002g0281 |
2 | 426 | 0.0047 | -45 | c.506 others(60): Show |
ETS2 | ENSG00000157557.13 | transcript | ENST00000360938.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76020080 | CTAAACCT others(38): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02970.hp1 HG02976.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0167 others(1): Show |
4 | 404 | 0.0099 | -45 | c.101 others(62): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 9/21 | chr17 | TogoVar | |||||||
EXOC3_chr5_438176_472290 | 443220 | GGGCGGCG others(38): Show |
G | 5_prime_UTR_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0083 | 1 | 418 | 0.0024 | -45 | c.-11 others(53): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1/13 | 2933 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133823865 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 102 | 0.0098 | -45 | c.173 others(64): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | chr7 | TogoVar | |||||||
FAM107B_chr10_14513557_14779897 | 14629401 | ATATATTT others(38): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0180 a0001c0001t0013g0033 |
2 | 272 | 0.0074 | -45 | c.469 others(64): Show |
FAM107B | ENSG00000065809.14 | transcript | ENST00000181796.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
FAM114A1_chr4_38862806_38950739 | 38880107 | GTAGAATA others(38): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp1 others(73): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0019 a0001c0001t0001g0050 a0001c0001t0001g0099 others(68): Show |
76 | 372 | 0.2043 | -45 | c.348 others(62): Show |
FAM114A1 | ENSG00000197712.12 | transcript | ENST00000358869.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAM13A_chr4_88720960_89062185 | 88913192 | AGAGGAAG others(38): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 | 1 | 208 | 0.0048 | -45 | c.760 others(62): Show |
FAM13A | ENSG00000138640.15 | transcript | ENST00000264344.10 | protein_coding | 5/23 | chr4 | TogoVar | |||||||
FAM162B_chr6_116747197_116770719 | 116770322 | TTGGATAA others(38): Show |
T | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 474 | 0.0021 | -45 | c.-47 others(56): Show |
FAM162B | ENSG00000183807.8 | transcript | ENST00000368557.6 | protein_coding | 4604 | chr6 | TogoVar | |||||||
FAM168A_chr11_73395487_73603112 | 73412164 | CTCATCTT others(38): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 NA18965.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0001c0001t0022a0001c0001t0024others(1): Show | a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0022g0061 others(3): Show |
6 | 180 | 0.0333 | -45 | c.278 others(60): Show |
FAM168A | ENSG00000054965.11 | transcript | ENST00000356467.5 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
FAM174B_chr15_92612448_92660775 | 92631271 | TATTATAT others(38): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01993.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0058 | a0001c0001t0007g0248 a0001c0001t0007g0250 a0001c0001t0058g0249 |
3 | 394 | 0.0076 | -45 | c.345 others(60): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM178B_chr2_96870885_96991580 | 96945520 | AGCGGCTT others(38): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0025 | a0002c0025t0005 | a0002c0025t0005g0157 | 1 | 250 | 0.0040 | -45 | c.107 others(64): Show |
FAM178B | ENSG00000168754.15 | transcript | ENST00000490605.3 | protein_coding | 8/16 | chr2 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13673837 | CCTGATTA others(38): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(220): Show |
253 | 326 | 0.7761 | -45 | c.474 others(62): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FAM234A_chr16_229821_271096 | 261971 | CTCTCTTC others(38): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(160): Show |
a0001a0003a0004others(7): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0354 a0001c0001t0002g0126 a0001c0001t0002g0128 others(155): Show |
163 | 408 | 0.3995 | -45 | c.709 others(59): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929774 | ATATATTA others(38): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0033 |
2 | 303 | 0.0066 | -45 | c.278 others(62): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58217142 | GATTTATA others(38): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 390 | 0.0026 | -45 | c.374 others(62): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132487537 | CTCCCTGG others(38): Show |
C | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0049 | 1 | 348 | 0.0029 | -45 | c.-30 others(56): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 2613 | chr12 | TogoVar | |||||||
FBXL19_chr16_30918572_30953783 | 30918903 | CCTTCTTC others(38): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0103 |
3 | 238 | 0.0126 | -45 | c.-55 others(56): Show |
FBXL19 | ENSG00000099364.18 | transcript | ENST00000338343.10 | protein_coding | 4668 | chr16 | TogoVar | |||||||
FBXW11_chr5_171856549_172011638 | 172010689 | TATATATA others(38): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01081.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0085 a0001c0001t0001g0086 others(18): Show |
21 | 158 | 0.1329 | -45 | c.-42 others(56): Show |
FBXW11 | ENSG00000072803.18 | transcript | ENST00000517395.6 | protein_coding | 4052 | chr5 | TogoVar | |||||||
FCAR_chr19_54869235_54896420 | 54887018 | TCCCAGCA others(38): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0097 | 1 | 441 | 0.0023 | -45 | c.362 others(60): Show |
FCAR | ENSG00000186431.19 | transcript | ENST00000355524.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
FCHSD1_chr5_141634302_141656418 | 141655182 | TACACACA others(38): Show |
T | upstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 428 | 0.0023 | -45 | c.-38 others(56): Show |
FCHSD1 | ENSG00000197948.11 | transcript | ENST00000435817.7 | protein_coding | 3765 | chr5 | TogoVar | |||||||
FCMR_chr1_206898317_206926941 | 206926278 | GGCCATAT others(38): Show |
G | upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 380 | 0.0026 | -45 | c.-44 others(56): Show |
FCMR | ENSG00000162894.12 | transcript | ENST00000367091.8 | protein_coding | 4338 | chr1 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850482 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0004g0088 a0001c0001t0008g0152 a0001c0001t0009g0203 others(11): Show |
14 | 266 | 0.0526 | -45 | c.408 others(64): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850507 | TATATATA others(38): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0233 | 1 | 266 | 0.0038 | -45 | c.408 others(64): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180615180 | CGGAGCAC others(38): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03195.hp1 others(1): Show |
a0002a0033 | a0002c0003a0033c0035 | a0002c0003t0001a0002c0003t0010a0033c0035t0010 | a0002c0003t0001g0375 a0002c0003t0010g0043 a0002c0003t0010g0178 others(1): Show |
4 | 388 | 0.0103 | -45 | c.322 others(64): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180615551 | CGGTCACC others(38): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002a0010 | a0002c0003a0010c0038 | a0002c0003t0002a0010c0038t0002 | a0002c0003t0002g0325 a0010c0038t0002g0336 |
2 | 388 | 0.0052 | -45 | c.321 others(62): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180615871 | TGCCGGTC others(38): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0286 | 1 | 388 | 0.0026 | -45 | c.321 others(62): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FMO3_chr1_171085905_171122819 | 171096620 | AATATACT others(38): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0006a0004c0005others(1): Show | a0001c0002t0001a0002c0006t0001a0004c0005t0001others(1): Show | a0001c0002t0001g0061 a0002c0006t0001g0020 a0004c0005t0001g0003 others(24): Show |
44 | 404 | 0.1089 | -45 | c.132 others(62): Show |
FMO3 | ENSG00000007933.13 | transcript | ENST00000367755.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82729818 | AGGTAGGT others(38): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(25): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0033 others(6): Show |
28 | 426 | 0.0657 | -45 | c.*26 others(56): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 1806 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82539254 | CTAATCTC others(38): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 308 | 0.0033 | -45 | c.419 others(64): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82539298 | CGTAATCT others(38): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0017 others(145): Show |
148 | 308 | 0.4805 | -45 | c.419 others(64): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360819 | ACCACCTC others(38): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0103 | 1 | 230 | 0.0044 | -45 | c.544 others(64): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360903 | TCCACCAC others(38): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 230 | 0.0044 | -45 | c.544 others(64): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361155 | TCCAGCAC others(38): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 230 | 0.0044 | -45 | c.544 others(64): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361368 | TCCAGCAC others(38): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066 | 1 | 230 | 0.0044 | -45 | c.544 others(64): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89362297 | CCACCACC others(38): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0058 | 1 | 230 | 0.0044 | -45 | c.544 others(64): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FREM2_chr13_38682077_38892131 | 38813473 | TCTCTCTC others(38): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02965.hp1 |
a0001 | a0001c0012a0001c0016 | a0001c0012t0050a0001c0016t0008 | a0001c0012t0050g0258 a0001c0016t0008g0249 |
2 | 262 | 0.0076 | -45 | c.601 others(66): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FSCN2_chr17_81523377_81542130 | 81532287 | GTGGTGAT others(38): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 432 | 0.0023 | -45 | c.827 others(62): Show |
FSCN2 | ENSG00000186765.12 | transcript | ENST00000417245.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FSHR_chr2_48957157_49159515 | 49127742 | TTCTTCTT others(38): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0022 | 1 | 350 | 0.0029 | -45 | c.152 others(64): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161415736 | GTATGATA others(38): Show |
G | intron_variant | MODIFIER | NA18979.hp2 NA18990.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0073 a0001c0001t0002g0010 a0001c0001t0003g0116 |
3 | 142 | 0.0211 | -45 | c.184 others(66): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161992862 | ATATATAT others(38): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 142 | 0.0070 | -45 | c.160 others(64): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 3/15 | chr4 | TogoVar | |||||||
FUNDC2_chrX_155021844_155065304 | 155057034 | CCTCATCC others(38): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0162 | 1 | 267 | 0.0038 | -45 | c.*23 others(56): Show |
FUNDC2 | ENSG00000165775.18 | transcript | ENST00000369498.8 | protein_coding | 5/5 | 2363 | chrX | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50330535 | TCATACAC others(38): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02717.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0007 a0001c0001t0007g0119 a0001c0001t0007g0120 others(2): Show |
5 | 366 | 0.0137 | -45 | c.1-2 others(60): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337084 | TATATATA others(38): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 366 | 0.0027 | -45 | c.-1+ others(62): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26703741 | CCCAAGTA others(38): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0190 | 1 | 204 | 0.0049 | -45 | c.240 others(64): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89292779 | CGTATATA others(38): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0006 a0001c0001t0001g0032 a0001c0001t0001g0037 others(181): Show |
187 | 366 | 0.5109 | -45 | c.220 others(62): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88839207 | ACAGGTCA others(38): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 404 | 0.0025 | -45 | c.423 others(62): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71336001 | CTTCTTCC others(38): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0002g0015 others(4): Show |
7 | 76 | 0.0921 | -45 | c.422 others(60): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |