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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1011): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01081.hp1 others(10): Show |
a0001 | a0001c0001a0001c0006a0001c0020 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0024a0001c0001t0001g0190a0001c0001t0001g0191others(10): Show | 13 | 408 | 0.0319 | 1018 | c.-14 others(1037): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FAM234A_chr16_229821_271096 | 239175 | C | CTGTAGTC others(1011): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026a0001c0001t0005g0027 | 2 | 408 | 0.0049 | 1018 | c.-14 others(1037): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
GBP5_chr1_89251189_89277860 | 89267888 | T | TAAAAAAT others(1011): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0119 | 1 | 432 | 0.0023 | 1018 | c.319 others(1033): Show |
GBP5 | ENSG00000154451.15 | transcript | ENST00000370459.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 309734 | A | AAGGAACT others(1011): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 155 | 0.0065 | 1018 | c.112 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(1011): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0012 | 1 | 155 | 0.0065 | 1018 | c.112 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(1011): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01169.hp1 others(21): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(7): Show | a0001c0001t0001g0039a0001c0001t0002g0003a0001c0001t0002g0029others(20): Show | 24 | 155 | 0.1548 | 1018 | c.112 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 309871 | T | TGAAATGA others(1011): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0014 | 1 | 155 | 0.0065 | 1018 | c.112 others(1037): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 7/9 | chrX | TogoVar | ||||||
HBQ1_chr16_175459_186179 | 186102 | G | GGAGGAAC others(1011): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 1018 | c.*49 others(1029): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4924 | chr16 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATAT others(1011): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0234 | 1 | 394 | 0.0025 | 1018 | c.41- others(1033): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(1011): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0213 | 1 | 323 | 0.0031 | 1018 | c.-36 others(1029): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1011): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0076 | 1 | 282 | 0.0036 | 1018 | c.258 others(1035): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1011): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0036 | a0002c0001t0036g0161 | 1 | 282 | 0.0036 | 1018 | c.258 others(1035): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1011): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02074.hp2 |
a0002a0010 | a0002c0009a0010c0014 | a0002c0009t0002a0010c0014t0003 | a0002c0009t0002g0213a0010c0014t0003g0043 | 2 | 282 | 0.0071 | 1018 | c.258 others(1035): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1011): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0119 | 1 | 282 | 0.0036 | 1018 | c.258 others(1035): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(1011): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 114 | 0.0088 | 1018 | c.56- others(1035): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(1011): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0111 | 1 | 296 | 0.0034 | 1018 | c.368 others(1035): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(1011): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0061 | 1 | 296 | 0.0034 | 1018 | c.368 others(1035): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0128 | 1 | 286 | 0.0035 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0038 | 1 | 286 | 0.0035 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03831.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0168a0001c0002t0002g0169 | 2 | 286 | 0.0070 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0010others(72): Show | 75 | 286 | 0.2622 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 286 | 0.0035 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02572.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0070a0001c0001t0001g0239a0001c0001t0003g0082others(6): Show | 9 | 286 | 0.0315 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(131): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0045a0001c0001t0001g0054others(131): Show | 134 | 286 | 0.4685 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 286 | 0.0035 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 286 | 0.0035 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MSRA_chr8_10049292_10433891 | 10149871 | C | CCATCAGT others(1011): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0088a0001c0001t0001g0090a0001c0001t0003g0087 | 3 | 286 | 0.0105 | 1018 | c.143 others(1037): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 1/5 | chr8 | TogoVar | ||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1011): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0006a0002c0002a0002c0011others(7): Show | a0001c0006t0001a0002c0002t0001a0002c0011t0001others(7): Show | a0001c0006t0001g0036a0001c0006t0001g0037a0001c0006t0001g0139others(14): Show | 17 | 228 | 0.0746 | 1018 | c.252 others(1037): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NOTCH1_chr9_136489433_136551048 | 136535570 | G | GGGGGGGG others(1011): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0193 | 1 | 324 | 0.0031 | 1018 | c.140 others(1035): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535781 | A | AGGGGGGA others(1011): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0017 | a0017c0045 | a0017c0045t0003 | a0017c0045t0003g0309 | 1 | 324 | 0.0031 | 1018 | c.140 others(1035): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(1011): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 374 | 0.0027 | 1018 | c.-46 others(1029): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | ||||||
RABL6_chr9_136802948_136846187 | 136803145 | G | GCCGGGGG others(1011): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 NA18965.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059a0002c0002t0002g0072 | 2 | 330 | 0.0061 | 1018 | c.-50 others(1029): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4802 | chr9 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1011): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 334 | 0.0030 | 1018 | c.45- others(1033): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(1011): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 324 | 0.0031 | 1018 | c.115 others(1035): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724944 | G | GTGGTGGT others(1011): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0031 | a0001c0031t0026 | a0001c0031t0026g0144 | 1 | 168 | 0.0060 | 1018 | c.261 others(1035): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48638361 | C | CCCCCGAC others(1011): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 258 | 0.0039 | 1018 | c.113 others(1035): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1628706 | A | ATGAGGCG others(1011): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0257 | 1 | 352 | 0.0028 | 1018 | c.299 others(1035): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1012): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 182 | 0.0055 | 1019 | c.505 others(1038): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(1012): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 182 | 0.0055 | 1019 | c.505 others(1038): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(1012): Show |
upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0078 | 1 | 268 | 0.0037 | 1019 | c.-37 others(1030): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1012): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 318 | 0.0031 | 1019 | c.285 others(1038): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1012): Show |
intron_variant | MODIFIER | NA18980.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0037 | 2 | 318 | 0.0063 | 1019 | c.285 others(1038): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1012): Show |
intron_variant | MODIFIER | NA18950.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0177 | 2 | 318 | 0.0063 | 1019 | c.285 others(1038): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1012): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 318 | 0.0031 | 1019 | c.285 others(1038): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1012): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 318 | 0.0031 | 1019 | c.285 others(1038): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1633953 | A | AGTAGAGA others(1012): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 223 | 0.0045 | 1019 | c.787 others(1034): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ASMT_chrX_1610059_1648081 | 1633953 | A | AGTAGAGA others(1012): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0021others(2): Show | 5 | 223 | 0.0224 | 1019 | c.787 others(1034): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1012): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0179 | 1 | 290 | 0.0035 | 1019 | c.166 others(1038): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1012): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0001t0011a0001c0003t0004others(3): Show | a0001c0001t0006g0145a0001c0001t0011g0051a0001c0003t0004g0194others(5): Show | 8 | 290 | 0.0276 | 1019 | c.166 others(1038): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar | ||||||
ATP2B2_chr3_10319023_10510586 | 10365830 | T | TATGTGCA others(1012): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00642.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(37): Show | a0001c0001t0003g0198a0001c0001t0004g0187a0001c0001t0010g0286others(61): Show | 65 | 290 | 0.2241 | 1019 | c.166 others(1038): Show |
ATP2B2 | ENSG00000157087.20 | transcript | ENST00000360273.7 | protein_coding | 12/22 | chr3 | TogoVar |