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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH8_chr6_38710311_39035792 | 38756890 | T | TGTGCCAC others(6115): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0026 | a0026c0091 | a0026c0091t0001 | a0026c0091t0001g0156 | 1 | 284 | 0.0035 | 6122 | c.151 others(6139): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 10/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6115): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0087 | 1 | 92 | 0.0109 | 6122 | c.559 others(6139): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6115): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18968.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0034a0001c0010t0037 | a0001c0001t0034g0088 a0001c0010t0037g0085 |
2 | 92 | 0.0217 | 6122 | c.559 others(6139): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
REELD1_chr4_146209538_146237267 | 146220471 | T | TTAATTTT others(6115): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0050 | 1 | 434 | 0.0023 | 6122 | c.209 others(6139): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T | TCAAAGTA others(6116): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 92 | 0.0109 | 6123 | c.559 others(6140): Show |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6116): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 120 | 0.0083 | 6123 | c.*89 others(6134): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6116): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0080 | 1 | 120 | 0.0083 | 6123 | c.*89 others(6134): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
REELD1_chr4_146209538_146237267 | 146220471 | T | TTAATTTT others(6116): Show |
intron_variant | MODIFIER | NA18957.hp1 NA19010.hp1 |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0004 | a0005c0005t0001g0029 a0005c0005t0004g0029 |
2 | 434 | 0.0046 | 6123 | c.209 others(6140): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
REELD1_chr4_146209538_146237267 | 146220471 | T | TTAATTTT others(6116): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0052 | 1 | 434 | 0.0023 | 6123 | c.209 others(6140): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225205873 | T | TAGAAAAT others(6117): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 240 | 0.0042 | 6124 | c.597 others(6139): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 39/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6117): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02647.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0040 a0001c0001t0006g0084 a0001c0001t0006g0085 others(1): Show |
4 | 120 | 0.0333 | 6124 | c.*89 others(6135): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6117): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 120 | 0.0083 | 6124 | c.*89 others(6135): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 225205873 | T | TAGAAAAT others(6118): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 240 | 0.0042 | 6125 | c.597 others(6140): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 39/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225205873 | T | TAGAAAAT others(6118): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 240 | 0.0042 | 6125 | c.597 others(6140): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 39/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FCN1_chr9_134898232_134922912 | 134918662 | T | TAGAAATA others(6118): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0283 | a0001c0001t0283g0124 | 1 | 434 | 0.0023 | 6125 | c.-79 others(6134): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 751 | chr9 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6118): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 120 | 0.0083 | 6125 | c.*89 others(6136): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230357591 | T | TGACTGTA others(6118): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0137 | 1 | 336 | 0.0030 | 6125 | c.108 others(6140): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTCCCTCC others(6119): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 223 | 0.0045 | 6126 | c.-42 others(6137): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTCCCTCC others(6119): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 227 | 0.0044 | 6126 | c.*23 others(6137): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
RBFOX2_chr22_35733736_36033824 | 35735298 | T | TCCACCTG others(6119): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 120 | 0.0083 | 6126 | c.*89 others(6137): Show |
RBFOX2 | ENSG00000100320.24 | transcript | ENST00000695854.1 | protein_coding | 3437 | chr22 | TogoVar | |||||||
TENM1_chrX_124370903_125209312 | 124918742 | T | TAAAGATA others(6119): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0120 | 1 | 140 | 0.0071 | 6126 | c.218 others(6145): Show |
TENM1 | ENSG00000009694.14 | transcript | ENST00000422452.4 | protein_coding | 4/34 | chrX | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251186 | C | CCACATCC others(6120): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 116 | 0.0086 | 6127 | c.207 others(6146): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
REELD1_chr4_146209538_146237267 | 146220485 | T | TTTTTTTT others(6120): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0060 | 1 | 434 | 0.0023 | 6127 | c.209 others(6144): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
REELD1_chr4_146209538_146237267 | 146220485 | T | TTTTTTTT others(6120): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0061 | 1 | 434 | 0.0023 | 6127 | c.209 others(6144): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
REELD1_chr4_146209538_146237267 | 146220485 | T | TTTTTTTT others(6121): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0062 | 1 | 434 | 0.0023 | 6128 | c.209 others(6145): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | chr4 | TogoVar | |||||||
LAMA2_chr6_128878138_129521566 | 128982982 | T | TGTGCCAC others(6122): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0005 | a0008c0005t0003 | a0008c0005t0003g0035 | 1 | 88 | 0.0114 | 6129 | c.113 others(6148): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 1/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62154459 | T | TGAAAACA others(6122): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0090 | a0001c0003t0090g0062 | 1 | 342 | 0.0029 | 6129 | c.549 others(6142): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 7/30 | chr18 | TogoVar | |||||||
FST_chr5_53475629_53492134 | 53488714 | A | ATCAATCA others(6123): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 462 | 0.0022 | 6130 | c.*26 others(6141): Show |
FST | ENSG00000134363.12 | transcript | ENST00000256759.8 | protein_coding | 1581 | chr5 | TogoVar | |||||||
RSPO3_chr6_127113671_127204481 | 127123237 | T | TAGAAAAA others(6123): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 310 | 0.0032 | 6130 | c.97+ others(6145): Show |
RSPO3 | ENSG00000146374.14 | transcript | ENST00000356698.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(6125): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0110 | a0001c0110t0001 | a0001c0110t0001g0164 | 1 | 282 | 0.0036 | 6132 | c.299 others(6147): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
SLCO1B3_chr12_20805705_20921911 | 20861140 | T | TAAGAATT others(6125): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 284 | 0.0035 | 6132 | c.481 others(6145): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891192 | T | TTTACTTC others(6125): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 354 | 0.0028 | 6132 | c.10- others(6145): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PGM5_chr9_68351611_68536061 | 68423190 | T | TGCAAGTA others(6126): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 246 | 0.0041 | 6133 | c.104 others(6154): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK5_chr20_54470593_54656169 | 54627118 | T | TAAGAATA others(6127): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0032 | 1 | 130 | 0.0077 | 6134 | c.736 others(6153): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586538 | C | CAAAGGTG others(6128): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 308 | 0.0033 | 6135 | c.157 others(6152): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6128): Show |
intron_variant | MODIFIER | NA18994.hp1 NA18999.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0153 a0002c0003t0001g0180 |
2 | 378 | 0.0053 | 6135 | c.127 others(6154): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6128): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0197 | 1 | 378 | 0.0027 | 6135 | c.127 others(6154): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84086465 | T | TTTGAGTA others(6129): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0049 | 1 | 272 | 0.0037 | 6136 | c.197 others(6155): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 20/21 | chrX | TogoVar | |||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6129): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0323 | 1 | 328 | 0.0031 | 6136 | c.124 others(6155): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6129): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18953.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0216 a0002c0002t0001g0251 |
2 | 328 | 0.0061 | 6136 | c.124 others(6155): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6129): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 | 1 | 328 | 0.0031 | 6136 | c.124 others(6155): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6129): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0223 | 1 | 328 | 0.0031 | 6136 | c.124 others(6155): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLCO1B3_chr12_20805705_20921911 | 20861140 | T | TAAGAATT others(6129): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0202 | 1 | 284 | 0.0035 | 6136 | c.481 others(6149): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T | TTATAGAT others(6129): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0175 | 1 | 378 | 0.0027 | 6136 | c.127 others(6155): Show |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
REELD1_chr4_146209538_146237267 | 146220471 | T | TTAATTTT others(6130): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0051 | 1 | 434 | 0.0023 | 6137 | c.209 others(6154): Show |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6130): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 | 1 | 328 | 0.0031 | 6137 | c.124 others(6156): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6130): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0320 | 1 | 328 | 0.0031 | 6137 | c.124 others(6156): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6130): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0266 | 1 | 328 | 0.0031 | 6137 | c.124 others(6156): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6130): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0224 | 1 | 328 | 0.0031 | 6137 | c.124 others(6156): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SLCO1B3_chr12_20805705_20921911 | 20861140 | T | TAAGAATT others(6130): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156 | 1 | 284 | 0.0035 | 6137 | c.481 others(6150): Show |
SLCO1B3 | ENSG00000111700.13 | transcript | ENST00000381545.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |