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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(465): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0016 | a0006c0016t0012 | a0006c0016t0012g0201 | 1 | 228 | 0.0044 | 472 | c.259 others(493): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1558590 | G | GTGGGTGC others(465): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0046 | 1 | 106 | 0.0094 | 472 | c.100 others(493): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167976167 | C | CAGGAGGC others(465): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 326 | 0.0031 | 472 | c.*62 others(483): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 4145 | chr6 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(465): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0020 | a0020c0042 | a0020c0042t0001 | a0020c0042t0001g0337 | 1 | 350 | 0.0029 | 472 | c.248 others(487): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(465): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01258.hp1 HG01346.hp2 others(26): Show |
a0002a0005a0009 | a0002c0002a0002c0014a0005c0005others(1): Show | a0002c0002t0001a0002c0002t0022a0002c0014t0001others(3): Show | a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 others(26): Show |
29 | 350 | 0.0829 | 472 | c.248 others(487): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729611 | T | TGAGGGGA others(465): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 350 | 0.0029 | 472 | c.248 others(487): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(465): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 268 | 0.0037 | 472 | c.136 others(489): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693729 | A | ACCACCTC others(465): Show |
downstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 296 | 0.0034 | 472 | c.*67 others(483): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4917 | chr20 | TogoVar | |||||||
ATP13A3_chr3_194397677_194492002 | 194421136 | A | ATATATAT others(465): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 304 | 0.0033 | 472 | c.331 others(491): Show |
ATP13A3 | ENSG00000133657.17 | transcript | ENST00000645319.2 | protein_coding | 30/33 | chr3 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176907 | G | GTATACAT others(465): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 342 | 0.0029 | 472 | c.366 others(489): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(465): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 342 | 0.0029 | 472 | c.366 others(489): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(465): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0023 | 1 | 142 | 0.0070 | 472 | c.244 others(491): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(465): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0132 | 1 | 142 | 0.0070 | 472 | c.244 others(491): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CCDC170_chr6_151489017_151626193 | 151499142 | A | ATACTAGG others(465): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG06807.hp1 others(2): Show |
a0003a0007 | a0003c0004a0003c0008a0007c0011 | a0003c0004t0007a0003c0008t0007a0007c0011t0008 | a0003c0004t0007g0113 a0003c0004t0007g0114 a0003c0008t0007g0112 others(2): Show |
5 | 320 | 0.0156 | 472 | c.57+ others(487): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC170_chr6_151489017_151626193 | 151499142 | A | ATACTAGG others(465): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02257.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0002a0002c0003others(3): Show | a0001c0005t0058a0002c0002t0045a0002c0003t0014others(5): Show | a0001c0005t0058g0124 a0002c0002t0045g0120 a0002c0003t0014g0118 others(6): Show |
9 | 320 | 0.0281 | 472 | c.57+ others(487): Show |
CCDC170 | ENSG00000120262.10 | transcript | ENST00000239374.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC178_chr18_32932406_33445721 | 33116804 | A | ATTAGGTC others(465): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18960.hp1 NA18988.hp2 others(1): Show |
a0002a0012 | a0002c0002a0012c0004 | a0002c0002t0001a0012c0004t0001 | a0002c0002t0001g0019 a0002c0002t0001g0021 a0002c0002t0001g0033 others(1): Show |
4 | 58 | 0.0690 | 472 | c.223 others(493): Show |
CCDC178 | ENSG00000166960.17 | transcript | ENST00000383096.8 | protein_coding | 20/22 | chr18 | TogoVar | |||||||
CCDC183_chr9_136791338_136812741 | 136802876 | G | GGGGGCCC others(465): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 398 | 0.0025 | 472 | c.666 others(487): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803290 | C | CCCAGGGC others(465): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 398 | 0.0025 | 472 | c.666 others(487): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(465): Show |
intron_variant | MODIFIER | NA18968.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0323 a0001c0001t0001g0358 |
2 | 396 | 0.0051 | 472 | c.349 others(487): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(465): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 256 | 0.0039 | 472 | c.-45 others(493): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11107986 | A | ACTTCCCT others(465): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01074.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0183 a0001c0001t0002g0172 a0001c0001t0003g0007 others(20): Show |
23 | 194 | 0.1186 | 472 | c.75- others(489): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11107987 | C | CTTCCCTC others(465): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0005 | a0001c0005t0053 | a0001c0005t0053g0185 | 1 | 194 | 0.0052 | 472 | c.75- others(489): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575597 | T | CGTATATA others(465): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 372 | 0.0027 | 472 | c.894 others(487): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(465): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0054 | 1 | 182 | 0.0055 | 472 | c.267 others(489): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(465): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 182 | 0.0055 | 472 | c.267 others(489): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110481803 | T | TTGCTGGA others(465): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0034 | a0002c0034t0012 | a0002c0034t0012g0328 | 1 | 372 | 0.0027 | 472 | c.275 others(489): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978428 | T | TTATATAT others(465): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0063 | 1 | 94 | 0.0106 | 472 | c.-2+ others(489): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924115 | C | CCCCCCAC others(465): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0012 | a0012c0080 | a0012c0080t0001 | a0012c0080t0001g0178 | 1 | 350 | 0.0029 | 472 | c.488 others(489): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924445 | C | CCCCCACA others(465): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 350 | 0.0029 | 472 | c.489 others(489): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924568 | C | CCTCACAC others(465): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0336 | 1 | 350 | 0.0029 | 472 | c.489 others(489): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(465): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0029 | a0008c0029t0011 | a0008c0029t0011g0054 | 1 | 126 | 0.0079 | 472 | c.416 others(493): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4174757 | T | TGAGGAAG others(465): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0032 | a0032c0024 | a0032c0024t0077 | a0032c0024t0077g0104 | 1 | 126 | 0.0079 | 472 | c.416 others(493): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(465): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 367 | 0.0027 | 472 | c.-42 others(483): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397733 | T | TGGGGGTG others(465): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 472 | c.-42 others(483): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4151 | chr16 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(465): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02074.hp1 HG02165.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0269 a0001c0001t0001g0296 a0001c0001t0001g0307 others(2): Show |
5 | 336 | 0.0149 | 472 | c.348 others(489): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(465): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01261.hp1 NA18948.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032 | a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0265 others(6): Show |
9 | 336 | 0.0268 | 472 | c.348 others(489): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(465): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01515.hp2 NA18945.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0012 | a0001c0001t0001g0251 a0001c0001t0001g0273 a0001c0001t0001g0286 others(5): Show |
8 | 336 | 0.0238 | 472 | c.348 others(489): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397118 | G | GGCCAGAG others(465): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0293 | 1 | 336 | 0.0030 | 472 | c.348 others(489): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875272 | C | CCACCCGC others(465): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0029 | a0029c0045 | a0029c0045t0001 | a0029c0045t0001g0242 | 1 | 320 | 0.0031 | 472 | c.*39 others(483): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2470 | chr20 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634589 | T | TCCTTTCC others(465): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 250 | 0.0040 | 472 | c.105 others(489): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634700 | C | CCCTTTCC others(465): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 250 | 0.0040 | 472 | c.105 others(489): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556341 | A | ATATATAT others(465): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0109 | 1 | 316 | 0.0032 | 472 | c.355 others(491): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675822 | A | ATATGTGT others(465): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0205 | 1 | 398 | 0.0025 | 472 | c.477 others(491): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EPHA8_chr1_22558489_22608595 | 22599827 | G | GAAGGGGA others(465): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG02258.hp2 others(8): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0066others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(5): Show | a0001c0001t0001g0202 a0001c0001t0003g0186 a0001c0001t0003g0190 others(8): Show |
11 | 342 | 0.0322 | 472 | c.238 others(489): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71680620 | C | CTTCCTCC others(465): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 76 | 0.0132 | 472 | c.150 others(491): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77248111 | T | TGTGGGTT others(465): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0048 | a0001c0004t0048g0325 | 1 | 366 | 0.0027 | 472 | c.-24 others(483): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1736 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77248111 | T | TGTGGGTT others(465): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02717.hp1 |
a0001 | a0001c0004 | a0001c0004t0052 | a0001c0004t0052g0323 a0001c0004t0052g0324 |
2 | 366 | 0.0055 | 472 | c.-24 others(483): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1736 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77248111 | T | TGTGGGTT others(465): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG03098.hp2 |
a0001 | a0001c0004 | a0001c0004t0028a0001c0004t0048 | a0001c0004t0028g0320 a0001c0004t0028g0321 a0001c0004t0048g0322 |
3 | 366 | 0.0082 | 472 | c.-24 others(483): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1736 | chr18 | TogoVar | |||||||
GMEB2_chr20_63582605_63632101 | 63607574 | C | CCACATCC others(465): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 330 | 0.0030 | 472 | c.132 others(489): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53073903 | A | ATATATAT others(465): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0015 | a0005c0015t0002 | a0005c0015t0002g0164 | 1 | 208 | 0.0048 | 472 | c.-97 others(489): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar |