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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPHB1_chr3_134790260_135265467 | 134916112 | TAGCTAGA others(75): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG06807.hp1 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0013 | a0001c0005t0003g0131a0001c0005t0013g0129a0001c0005t0013g0130 | 3 | 134 | 0.0224 | -82 | c.59- others(97): Show |
EPHB1 | ENSG00000154928.19 | transcript | ENST00000398015.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ERC1_chr12_986223_1500931 | 1122223 | ATCTCTAT others(75): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0109 | 1 | 162 | 0.0062 | -82 | c.156 others(101): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ERICH1_chr8_659200_736224 | 675101 | AGTGAGGA others(75): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(43): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0010a0001c0001t0001g0101a0001c0001t0001g0192others(43): Show | 46 | 378 | 0.1217 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675204 | CCCCCTCG others(75): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG04228.hp1 HG04228.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101a0001c0001t0002g0244a0001c0001t0002g0266others(4): Show | 7 | 378 | 0.0185 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675240 | CGAGGACA others(75): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 378 | 0.0027 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675259 | GCCCCTCG others(75): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0239 | 1 | 378 | 0.0027 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675295 | CGAGGACA others(75): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 378 | 0.0027 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675314 | GCCCCTCG others(75): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG01515.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0335a0001c0002t0002g0336 | 2 | 378 | 0.0053 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675433 | CGAGGACA others(75): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 378 | 0.0027 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675488 | CGAGGACA others(75): Show |
C | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0335 | 1 | 378 | 0.0027 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 675707 | TGAGGACA others(75): Show |
T | intron_variant | MODIFIER | HG02572.hp2 NA20129.hp2 |
a0001a0009 | a0001c0009a0009c0012 | a0001c0009t0001a0009c0012t0001 | a0001c0009t0001g0120a0009c0012t0001g0119 | 2 | 378 | 0.0053 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 676281 | GTGAGGAC others(75): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0272 | 3 | 378 | 0.0079 | -82 | c.305 others(99): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245444 | ATATATAT others(75): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG03471.hp2 HG03834.hp1 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0004a0004c0006t0057 | a0002c0002t0004g0215a0002c0002t0004g0257a0004c0006t0057g0232 | 3 | 396 | 0.0076 | -82 | c.432 others(99): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128585045 | AAAGAAAG others(75): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0223 | 1 | 286 | 0.0035 | -82 | c.-15 others(99): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ETS1_chr11_128453765_128592558 | 128585064 | GAAAGAAA others(75): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042 | 1 | 286 | 0.0035 | -82 | c.-15 others(99): Show |
ETS1 | ENSG00000134954.14 | transcript | ENST00000392668.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601450 | CCACACAC others(75): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 272 | 0.0037 | -82 | c.743 others(99): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601890 | CCACACAC others(75): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0229a0001c0001t0003g0234 | 2 | 272 | 0.0074 | -82 | c.743 others(99): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 601930 | CCACACAC others(75): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 | 1 | 272 | 0.0037 | -82 | c.743 others(99): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 602050 | CCACACAC others(75): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 272 | 0.0037 | -82 | c.743 others(99): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | ||||||
EXOC6B_chr2_72170984_72831033 | 72401524 | CATATATA others(75): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0005 | 1 | 104 | 0.0096 | -82 | c.198 others(103): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar | ||||||
EZR_chr6_158760748_158824368 | 158803572 | TATATATA others(75): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp1 HG01258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0006a0001c0001t0002g0202a0001c0001t0002g0203others(4): Show | 8 | 312 | 0.0256 | -82 | c.13- others(99): Show |
EZR | ENSG00000092820.19 | transcript | ENST00000367075.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45327999 | TGGAGGCC others(75): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG02135.hp1 HG02257.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0003a0003c0004t0010others(1): Show | a0003c0004t0001g0173a0003c0004t0001g0174a0003c0004t0003g0227others(4): Show | 7 | 416 | 0.0168 | -82 | c.522 others(96): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328087 | CCTTTGGC others(75): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG02027.hp1 others(26): Show |
a0002a0005 | a0002c0003a0005c0005 | a0002c0003t0003a0002c0003t0006a0005c0005t0003 | a0002c0003t0003g0009a0002c0003t0003g0028a0002c0003t0003g0029others(21): Show | 29 | 416 | 0.0697 | -82 | c.522 others(97): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM118A_chr22_45304934_45346955 | 45328312 | ATGGGCTG others(75): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0173a0003c0004t0001g0174 | 2 | 416 | 0.0048 | -82 | c.522 others(97): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
FAM161A_chr2_61819848_61859060 | 61848886 | TTATATAT others(75): Show |
T | intron_variant | MODIFIER | HG03579.hp1 HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186a0001c0001t0002g0187a0001c0001t0002g0276 | 3 | 400 | 0.0075 | -82 | c.183 others(99): Show |
FAM161A | ENSG00000170264.13 | transcript | ENST00000404929.6 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9021256 | ATATATAT others(75): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG01243.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001a0001c0001t0002g0005a0001c0001t0002g0053others(2): Show | 11 | 258 | 0.0426 | -82 | c.*40 others(93): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2975 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022045 | ACATTATG others(75): Show |
A | downstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 258 | 0.0039 | -82 | c.*32 others(93): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2186 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022073 | ACATTATG others(75): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG02257.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012 | 5 | 258 | 0.0194 | -82 | c.*32 others(93): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2158 | chrX | TogoVar | ||||||
FAM9B_chrX_9019232_9039127 | 9022241 | TTATATTA others(75): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 258 | 0.0039 | -82 | c.*30 others(93): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 1990 | chrX | TogoVar | ||||||
FAN1_chr15_30898915_30948108 | 30929745 | CATATATA others(75): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0165 | 1 | 303 | 0.0033 | -82 | c.278 others(99): Show |
FAN1 | ENSG00000198690.10 | transcript | ENST00000362065.9 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
FAT1_chr4_186582794_186728856 | 186627009 | AGAATGAA others(75): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp2 NA18957.hp2 others(1): Show |
a0003a0009 | a0003c0003a0009c0010 | a0003c0003t0001a0009c0010t0007 | a0003c0003t0001g0214a0003c0003t0001g0216a0003c0003t0001g0230others(1): Show | 4 | 338 | 0.0118 | -82 | c.481 others(101): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 9/26 | chr4 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132563808 | CTGAACCC others(75): Show |
C | intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 348 | 0.0029 | -82 | c.646 others(99): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | chr12 | TogoVar | ||||||
FGFRL1_chr4_1006626_1031898 | 1021031 | GCGGGGTG others(75): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0035a0001c0002t0009g0036a0001c0002t0009g0091 | 5 | 414 | 0.0121 | -82 | c.80- others(97): Show |
FGFRL1 | ENSG00000127418.15 | transcript | ENST00000510644.6 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60131000 | TACATATG others(75): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0034a0001c0002t0001g0030 | 2 | 46 | 0.0435 | -82 | c.104 others(103): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 5/9 | chr3 | TogoVar | ||||||
FMN1_chr15_32760544_33199714 | 32949954 | TATATATA others(75): Show |
T | intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0007a0008 | a0007c0019a0008c0009 | a0007c0019t0026a0008c0009t0046 | a0007c0019t0026g0080a0008c0009t0046g0115 | 2 | 196 | 0.0102 | -82 | c.313 others(103): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 9/20 | chr15 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240365154 | CACATATA others(75): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03540.hp1 |
a0008a0074 | a0008c0055a0074c0058 | a0008c0055t0001a0074c0058t0001 | a0008c0055t0001g0079a0074c0058t0001g0143 | 2 | 174 | 0.0115 | -82 | c.485 others(101): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMO2_chr1_171180300_171217686 | 171210717 | TGTACTTC others(75): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(358): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0015a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(34): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(207): Show | 361 | 366 | 0.9863 | -82 | c.*17 others(93): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1737 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
FNDC11_chr20_63549159_63561695 | 63559445 | GGTCAGGT others(75): Show |
G | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 416 | 0.0048 | -82 | c.*28 others(93): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2751 | chr20 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82576046 | CGTGTGCT others(75): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0242 | 1 | 308 | 0.0033 | -82 | c.909 others(99): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
FOXN3_chr14_89151177_89422233 | 89361427 | CACCACCT others(75): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0102a0001c0001t0019g0004 | 2 | 230 | 0.0087 | -82 | c.544 others(101): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126275803 | CTTCATCT others(75): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0098 | 1 | 390 | 0.0026 | -82 | c.744 others(92): Show |
p.Ser others(5): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 7/11 | 797/1951 | 744/1461 | 248/486 | chr11 | TogoVar | ||
FRK_chr6_115926149_116065891 | 115958684 | GAAAGAAA others(75): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG02165.hp2 HG02717.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0002c0002t0005 | a0001c0001t0001g0178a0001c0001t0001g0183a0001c0001t0014g0261others(1): Show | 4 | 274 | 0.0146 | -82 | c.800 others(99): Show |
FRK | ENSG00000111816.8 | transcript | ENST00000606080.2 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
FRMD3_chr9_83239622_83543401 | 83541943 | TTATTATT others(75): Show |
T | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 242 | 0.0041 | -82 | c.-37 others(93): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 3543 | chr9 | TogoVar | ||||||
FTHL17_chrX_31066233_31077041 | 31067412 | GTATATAC others(75): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 3 | 336 | 0.0089 | -82 | c.*39 others(93): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3820 | chrX | TogoVar | ||||||
FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(75): Show |
T | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 374 | 0.0027 | -82 | c.204 others(99): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241807525 | ACCCTCCC others(75): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0044 | 1 | 314 | 0.0032 | -82 | c.*33 others(93): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3239 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807649 | CTCCCTCC others(75): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02155.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0188a0001c0001t0001g0193 | 3 | 314 | 0.0096 | -82 | c.*34 others(93): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3363 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807930 | CTCCCTCC others(75): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01981.hp2 HG01993.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(1): Show | a0001c0001t0001g0025a0001c0001t0002g0011a0001c0001t0002g0180others(3): Show | 6 | 314 | 0.0191 | -82 | c.*37 others(93): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3644 | chr2 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88823462 | GTGCCCAG others(75): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01255.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0164others(23): Show | 26 | 404 | 0.0644 | -82 | c.124 others(99): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 11/13 | chr16 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110266 | CAGAACTA others(75): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0014 | 1 | 214 | 0.0047 | -82 | c.143 others(101): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |