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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(434): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01515.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0010others(6): Show | a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0002t0001g0073 others(8): Show |
11 | 182 | 0.0604 | 441 | c.267 others(458): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATG others(434): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0117 | 1 | 182 | 0.0055 | 441 | c.267 others(458): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(434): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0038 | 1 | 230 | 0.0044 | 441 | c.724 others(460): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(434): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0006 | a0001c0006t0052 | a0001c0006t0052g0186 | 1 | 230 | 0.0044 | 441 | c.724 others(460): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 321702 | C | CTGTTAGA others(434): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 88 | 0.0114 | 441 | c.392 others(460): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478270 | A | AGGGGAGG others(434): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 1 | 88 | 0.0114 | 441 | c.158 others(458): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400240 | A | ACCTCCCC others(434): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0038 | a0038c0166 | a0038c0166t0018 | a0038c0166t0018g0001 | 1 | 256 | 0.0039 | 441 | c.323 others(458): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634556 | T | TCCTTTCC others(434): Show |
intron_variant | MODIFIER | NA19074.hp1 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0195 a0002c0002t0003g0196 |
2 | 250 | 0.0080 | 441 | c.105 others(458): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154778649 | A | ACCACAAC others(434): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0018 | a0001c0018t0009 | a0001c0018t0009g0023 | 1 | 38 | 0.0263 | 441 | c.113 others(460): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 10/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1282737 | A | AGGGTGTG others(434): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 294 | 0.0034 | 441 | c.-34 others(452): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 3135 | chr19 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2378433 | C | CGCGAGCT others(434): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0202 | 1 | 384 | 0.0026 | 441 | c.215 others(458): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(434): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0212 | 1 | 288 | 0.0035 | 441 | c.190 others(460): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99928008 | G | GTGATGGT others(434): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0091 | 1 | 288 | 0.0035 | 441 | c.190 others(460): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
FBN2_chr5_128252909_128543245 | 128539754 | C | CATATATA others(434): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0008 | a0001c0008t0025 | a0001c0008t0025g0115 | 1 | 236 | 0.0042 | 441 | c.-21 others(452): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1510 | chr5 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252992 | C | CCACCACC others(434): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 366 | 0.0027 | 441 | c.666 others(458): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113826663 | C | CGCAGGCA others(434): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0128 | 1 | 143 | 0.0070 | 441 | c.147 others(458): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(434): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 290 | 0.0035 | 441 | c.972 others(456): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(434): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 290 | 0.0035 | 441 | c.972 others(456): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPBP1_chr5_57169059_57269673 | 57249839 | T | TCCCGTCC others(434): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 290 | 0.0035 | 441 | c.972 others(456): Show |
GPBP1 | ENSG00000062194.16 | transcript | ENST00000506184.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GRIN2D_chr19_48388668_48449931 | 48415369 | C | CGGCACGG others(434): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 366 | 0.0027 | 441 | c.158 others(458): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 7/13 | chr19 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 321754 | A | AAAAAAAA others(434): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 NA18999.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0098 a0003c0004t0002g0095 |
2 | 155 | 0.0129 | 441 | c.-29 others(452): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2959 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 321755 | A | AAAAAAAA others(434): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0003 | a0003c0038 | a0003c0038t0001 | a0003c0038t0001g0097 | 1 | 155 | 0.0065 | 441 | c.-29 others(452): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2960 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 321755 | A | AAAAAAAA others(434): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0090 | 1 | 155 | 0.0065 | 441 | c.-29 others(452): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2960 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322341 | A | AAAAAAAA others(434): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 155 | 0.0065 | 441 | c.-35 others(452): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3546 | chrX | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60042736 | C | CGGCTGTG others(434): Show |
3_prime_UTR_variant | MODIFIER | NA18968.hp2 NA19007.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0002 | 3 | 250 | 0.0120 | 441 | c.*82 others(450): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 826 | chr17 | TogoVar | ||||||
HNF1A_chr12_120973543_121007512 | 120987987 | G | GTCCATCC others(434): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 410 | 0.0024 | 441 | c.327 others(456): Show |
HNF1A | ENSG00000135100.19 | transcript | ENST00000257555.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280696 | T | TTTTATTT others(434): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0139 | 1 | 394 | 0.0025 | 441 | c.41- others(456): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399208 | G | GCACCACC others(434): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 314 | 0.0032 | 441 | c.-25 others(458): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442656 | C | CCATCACC others(434): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0005 | a0001c0005t0047 | a0001c0005t0047g0065 | 1 | 330 | 0.0030 | 441 | c.691 others(456): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | |||||||
KIF17_chr1_20659014_20723007 | 20712841 | G | GATATTAT others(434): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0369 | 1 | 414 | 0.0024 | 441 | c.480 others(456): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(434): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0004 | a0004c0092 | a0004c0092t0001 | a0004c0092t0001g0107 | 1 | 186 | 0.0054 | 441 | c.956 others(458): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507458 | A | ATAGGGAG others(434): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 260 | 0.0039 | 441 | c.624 others(458): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858029 | G | GAGTGGTG others(434): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0090 | 1 | 294 | 0.0034 | 441 | c.153 others(460): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGCG others(434): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0292 | 1 | 294 | 0.0034 | 441 | c.153 others(460): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRPAP1_chr4_3498612_3537422 | 3509283 | T | TTGAGACG others(434): Show |
3_prime_UTR_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0181 | a0001c0001t0181g0166 | 1 | 420 | 0.0024 | 441 | c.*36 others(452): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 3690 | chr4 | TogoVar | ||||||
LRPAP1_chr4_3498612_3537422 | 3509400 | G | GCCGACTG others(434): Show |
3_prime_UTR_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0184 | a0001c0001t0184g0096 | 1 | 420 | 0.0024 | 441 | c.*35 others(452): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 3573 | chr4 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(434): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 a0001c0001t0002g0159 |
2 | 390 | 0.0051 | 441 | c.112 others(458): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(434): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 390 | 0.0026 | 441 | c.112 others(458): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735555 | A | AATAGGCA others(434): Show |
intron_variant | MODIFIER | NA18988.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 2 | 390 | 0.0051 | 441 | c.112 others(458): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
METTL25B_chr1_156723469_156741960 | 156735557 | A | ATAGGCAG others(434): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 390 | 0.0026 | 441 | c.112 others(458): Show |
METTL25B | ENSG00000143303.12 | transcript | ENST00000368216.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877144 | T | TGGAGGTT others(434): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 274 | 0.0037 | 441 | c.224 others(460): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877171 | G | GGGAGGTT others(434): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0195 | 1 | 274 | 0.0037 | 441 | c.224 others(460): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MRPL21_chr11_68886278_68908832 | 68892196 | T | TGGGGTCA others(434): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 395 | 0.0025 | 441 | c.553 others(456): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 6/6 | chr11 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(434): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18747.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
3 | 364 | 0.0082 | 441 | c.*18 others(452): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(434): Show |
downstream_gene_variant | MODIFIER | NA18747.hp2 NA18941.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 364 | 0.0055 | 441 | c.*18 others(452): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735555 | A | AATAGGCA others(434): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 364 | 0.0055 | 441 | c.*18 others(452): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1747 | chr1 | TogoVar | |||||||
MRPL24_chr1_156732303_156746088 | 156735557 | A | ATAGGCAG others(434): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 364 | 0.0028 | 441 | c.*18 others(452): Show |
MRPL24 | ENSG00000143314.12 | transcript | ENST00000361531.6 | protein_coding | 1745 | chr1 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(434): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG02015.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 9 | 394 | 0.0228 | 441 | c.-8+ others(454): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MYL2_chr12_110905845_110925579 | 110905917 | A | ATATATAA others(434): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 368 | 0.0027 | 441 | c.*51 others(452): Show |
MYL2 | ENSG00000111245.17 | transcript | ENST00000228841.15 | protein_coding | 4927 | chr12 | TogoVar | |||||||
MYT1_chr20_64159452_64247253 | 64177570 | T | TGGGGACA others(434): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02602.hp1 HG03669.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0018a0001c0004t0004a0001c0006t0001 | a0001c0002t0018g0035 a0001c0004t0004g0031 a0001c0004t0004g0033 others(2): Show |
5 | 223 | 0.0224 | 441 | c.-98 others(460): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |