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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1171): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 322 | 0.0031 | 1178 | c.-93 others(1195): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289263 | C | CCGTGTCC others(1171): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0119 | 1 | 290 | 0.0035 | 1178 | c.166 others(1197): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934388 | C | CATATATA others(1171): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 324 | 0.0031 | 1178 | c.115 others(1195): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1171): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0246 | 1 | 324 | 0.0031 | 1178 | c.115 others(1195): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1171): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 373 | 0.0027 | 1178 | c.115 others(1195): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1171): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 373 | 0.0027 | 1178 | c.115 others(1195): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1171): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0007 | a0001c0007t0014 | a0001c0007t0014g0139 | 1 | 373 | 0.0027 | 1178 | c.115 others(1195): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1171): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0137 | 1 | 373 | 0.0027 | 1178 | c.115 others(1195): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414498 | G | GGAGAAGG others(1171): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 373 | 0.0027 | 1178 | c.115 others(1195): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27107220 | T | TACACACA others(1171): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 2 | 234 | 0.0086 | 1178 | c.128 others(1195): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27107220 | T | TACACACA others(1171): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00558.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0002others(4): Show | a0001c0001t0002g0074a0001c0001t0006g0004a0001c0001t0006g0140others(54): Show | 59 | 234 | 0.2521 | 1178 | c.128 others(1195): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1171): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0233 | 1 | 256 | 0.0039 | 1178 | c.365 others(1195): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
TNFRSF18_chr1_1198508_1211592 | 1201812 | C | CGAGCCCA others(1171): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 386 | 0.0026 | 1178 | c.*20 others(1189): Show |
TNFRSF18 | ENSG00000186891.14 | transcript | ENST00000379268.7 | protein_coding | 1695 | chr1 | TogoVar | ||||||
USP28_chr11_113792875_113880572 | 113824100 | T | TAAAAAAA others(1171): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0348 | 1 | 364 | 0.0028 | 1178 | c.118 others(1195): Show |
USP28 | ENSG00000048028.12 | transcript | ENST00000696973.1 | protein_coding | 11/25 | chr11 | TogoVar | ||||||
ZBTB42_chr14_104796101_104809712 | 104808072 | C | CAGCACCC others(1171): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 99 | 0.0101 | 1178 | c.*56 others(1189): Show |
ZBTB42 | ENSG00000179627.10 | transcript | ENST00000342537.8 | protein_coding | 3361 | chr14 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1172): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 238 | 0.0042 | 1179 | c.787 others(1194): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585351 | T | TGAGGGAG others(1172): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0321 | 1 | 354 | 0.0028 | 1179 | c.-22 others(1196): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585380 | T | TGAGGGAG others(1172): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0153 | 1 | 354 | 0.0028 | 1179 | c.-22 others(1196): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939808 | A | AAAAGAAA others(1172): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 258 | 0.0039 | 1179 | c.403 others(1194): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1172): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 258 | 0.0039 | 1179 | c.403 others(1194): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1172): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 258 | 0.0039 | 1179 | c.403 others(1194): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1172): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0161 | 1 | 272 | 0.0037 | 1179 | c.109 others(1198): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1172): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0004 | a0004c0029 | a0004c0029t0002 | a0004c0029t0002g0097 | 1 | 272 | 0.0037 | 1179 | c.109 others(1198): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657126 | G | GGGGGTGG others(1172): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 272 | 0.0037 | 1179 | c.109 others(1198): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134657126 | G | GGGGGTGG others(1172): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0005 | a0005c0062 | a0005c0062t0011 | a0005c0062t0011g0026 | 1 | 272 | 0.0037 | 1179 | c.109 others(1198): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(1172): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 418 | 0.0024 | 1179 | c.737 others(1192): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232265 | C | CGCCCACC others(1172): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 396 | 0.0025 | 1179 | c.513 others(1194): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DECR2_chr16_396885_417482 | 397716 | G | GTGAGGGA others(1172): Show |
upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 367 | 0.0027 | 1179 | c.-42 others(1190): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4168 | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323698 | G | GTGTGTAG others(1172): Show |
upstream_gene_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0092 | 1 | 155 | 0.0065 | 1179 | c.-49 others(1190): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4903 | chrX | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1172): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0037 | 1 | 186 | 0.0054 | 1179 | c.956 others(1196): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1172): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 194 | 0.0052 | 1179 | c.-12 others(1198): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876824 | G | GGTTAGGG others(1172): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 274 | 0.0037 | 1179 | c.224 others(1198): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397716 | G | GTGAGGGA others(1172): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 356 | 0.0028 | 1179 | c.91+ others(1192): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1172): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 360 | 0.0028 | 1179 | c.456 others(1194): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1172): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0157 | 1 | 282 | 0.0036 | 1179 | c.*26 others(1190): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1172): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0125 | 1 | 134 | 0.0075 | 1179 | c.-28 others(1198): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(1172): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0043 | 1 | 376 | 0.0027 | 1179 | c.101 others(1198): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(1172): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0221 | 1 | 376 | 0.0027 | 1179 | c.101 others(1198): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(1172): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0175 | 1 | 214 | 0.0047 | 1179 | c.206 others(1198): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GGAGAAGG others(1172): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0172 | 1 | 214 | 0.0047 | 1179 | c.206 others(1198): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(1172): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0128 | 1 | 373 | 0.0027 | 1179 | c.115 others(1196): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
SLC9A1_chr1_27093809_27160125 | 27107220 | T | TACACACA others(1172): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 | 1 | 234 | 0.0043 | 1179 | c.128 others(1196): Show |
SLC9A1 | ENSG00000090020.11 | transcript | ENST00000263980.8 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1172): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 322 | 0.0031 | 1179 | c.597 others(1196): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637435 | T | TTATATAT others(1172): Show |
downstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 268 | 0.0037 | 1179 | c.*72 others(1190): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3901 | chr10 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1172): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0242 | 1 | 256 | 0.0039 | 1179 | c.365 others(1196): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(1173): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008a0001c0001t0006g0009 | 2 | 268 | 0.0075 | 1180 | c.136 others(1197): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882566 | G | GCGGGGAG others(1173): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 288 | 0.0035 | 1180 | c.303 others(1199): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939844 | G | GAAGAAAA others(1173): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0098 | 1 | 258 | 0.0039 | 1180 | c.403 others(1195): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501102 | G | GGTTTGGT others(1173): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0028 | a0028c0097 | a0028c0097t0001 | a0028c0097t0001g0036 | 1 | 292 | 0.0034 | 1180 | c.268 others(1199): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88713210 | T | TGAGAGCC others(1173): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03704.hp1 HG04115.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059a0002c0003t0001g0063a0002c0003t0001g0065 | 3 | 418 | 0.0072 | 1180 | c.738 others(1193): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |