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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRDM16_chr1_3064203_3443621 | 3260742 | A | ATGATGGT others(928): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03669.hp2 HG03834.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0027 | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(4): Show | a0001c0001t0001g0158a0001c0001t0001g0179a0001c0001t0003g0168others(6): Show | 9 | 210 | 0.0429 | 935 | c.438 others(954): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80963717 | C | CGTCCCCT others(928): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0008 | a0001c0008t0036 | a0001c0008t0036g0002 | 1 | 196 | 0.0051 | 935 | c.394 others(952): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 33/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
S1PR4_chr19_3173769_3185332 | 3178129 | C | CTCGGGCT others(928): Show |
upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0000 | 1 | 418 | 0.0024 | 935 | c.-66 others(944): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 639 | chr19 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(928): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 268 | 0.0037 | 935 | c.*73 others(946): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(928): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011a0001c0002t0002g0027 | 2 | 268 | 0.0075 | 935 | c.*73 others(946): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(928): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 HG03927.hp1 NA18962.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0026a0001c0002t0002g0046a0001c0002t0002g0054 | 3 | 268 | 0.0112 | 935 | c.*73 others(946): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(928): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 | 1 | 112 | 0.0089 | 935 | c.638 others(950): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(928): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(23): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0042a0001c0001t0001g0049a0001c0001t0001g0071others(23): Show | 26 | 112 | 0.2321 | 935 | c.638 others(950): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 46878326 | A | AGAGAGAA others(928): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01884.hp1 HG02257.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0074a0001c0001t0002g0009a0001c0001t0002g0015others(7): Show | 10 | 112 | 0.0893 | 935 | c.638 others(950): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328678 | A | AGTGTGTG others(928): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0228 | 1 | 432 | 0.0023 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 3 | 432 | 0.0069 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 432 | 0.0023 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18966.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 3 | 432 | 0.0069 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | NA19006.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116a0001c0001t0001g0117 | 2 | 432 | 0.0046 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 432 | 0.0023 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 432 | 0.0023 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(928): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 | 1 | 432 | 0.0023 | 935 | c.199 others(952): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828754 | G | GGGAGGAA others(928): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 94 | 0.0106 | 935 | c.79+ others(952): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(928): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0147 | 1 | 330 | 0.0030 | 935 | c.-35 others(946): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(928): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00673.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0041a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0041g0031a0001c0002t0001g0003a0001c0002t0001g0026others(22): Show | 27 | 330 | 0.0818 | 935 | c.-35 others(946): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(928): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(131): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(67): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(129): Show | 134 | 330 | 0.4061 | 935 | c.-35 others(946): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(928): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 NA18979.hp2 NA18993.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030a0001c0002t0001g0040a0001c0002t0001g0041 | 3 | 330 | 0.0091 | 935 | c.-35 others(946): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
TMEM192_chr4_165065608_165117860 | 165116330 | T | TTATGCAA others(928): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0108 | 1 | 330 | 0.0030 | 935 | c.-35 others(946): Show |
TMEM192 | ENSG00000170088.14 | transcript | ENST00000306480.11 | protein_coding | 3471 | chr4 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204252 | T | TATGATGA others(928): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0061 | 1 | 174 | 0.0058 | 935 | c.41- others(952): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917306 | G | GTTCGGCT others(928): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0289 | 1 | 344 | 0.0029 | 935 | c.218 others(952): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063893 | G | GGGGGAGG others(928): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0038 | 1 | 167 | 0.0060 | 935 | c.*53 others(946): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2262 | chr13 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 646444 | T | TTGGCTCC others(928): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0055 | a0001c0002t0055g0084 | 1 | 232 | 0.0043 | 935 | c.608 others(952): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 7/21 | chr17 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(929): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0175 | 1 | 248 | 0.0040 | 936 | c.387 others(955): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(929): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04184.hp2 NA19005.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0008a0001c0003t0002a0002c0004t0002 | a0001c0001t0008g0247a0001c0003t0002g0114a0002c0004t0002g0159 | 3 | 248 | 0.0121 | 936 | c.387 others(955): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(929): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0193 | 1 | 248 | 0.0040 | 936 | c.387 others(955): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(929): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 248 | 0.0040 | 936 | c.387 others(955): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456223 | A | AGTATGTA others(929): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 182 | 0.0055 | 936 | c.505 others(955): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(929): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0094 | 1 | 182 | 0.0055 | 936 | c.505 others(955): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(929): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0074 | a0001c0002t0074g0316 | 1 | 318 | 0.0031 | 936 | c.225 others(953): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406423 | T | TTGTCACT others(929): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0094 | 1 | 210 | 0.0048 | 936 | c.*30 others(947): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 746 | chr2 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140160 | T | TGCCCGGC others(929): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 226 | 0.0044 | 936 | c.217 others(955): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(929): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0177 | 1 | 226 | 0.0044 | 936 | c.217 others(955): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(929): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0204 | 1 | 226 | 0.0044 | 936 | c.217 others(955): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(929): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 936 | c.*36 others(947): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(929): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 391 | 0.0026 | 936 | c.*36 others(947): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(929): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0088a0001c0002t0002g0098 | 2 | 418 | 0.0048 | 936 | c.*51 others(947): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(929): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0279 | 1 | 418 | 0.0024 | 936 | c.*51 others(947): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(929): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02717.hp1 |
a0002 | a0002c0004 | a0002c0004t0025a0002c0004t0056 | a0002c0004t0025g0195a0002c0004t0025g0199a0002c0004t0056g0200 | 3 | 270 | 0.0111 | 936 | c.162 others(957): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385530 | C | CGTGGATA others(929): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0229 | 1 | 372 | 0.0027 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0002 | a0002c0035 | a0002c0035t0012 | a0002c0035t0012g0328 | 1 | 372 | 0.0027 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 372 | 0.0027 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0023 | a0023c0099 | a0023c0099t0006 | a0023c0099t0006g0058 | 1 | 372 | 0.0027 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0086 | a0002c0086t0002 | a0002c0086t0002g0279 | 1 | 372 | 0.0027 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01256.hp1 HG01261.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0004a0001c0001t0046a0001c0002t0003others(13): Show | a0001c0001t0004g0348a0001c0001t0046g0283a0001c0002t0003g0051others(16): Show | 19 | 372 | 0.0511 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385930 | T | TTACAGTG others(929): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp1 others(18): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0005a0001c0001t0023a0001c0002t0001others(16): Show | a0001c0001t0005g0154a0001c0001t0023g0329a0001c0002t0001g0193others(18): Show | 21 | 372 | 0.0565 | 936 | c.180 others(955): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |