| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(786): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18986.hp1 NA18991.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0018 a0001c0003t0003g0271 |
4 | 5 | 0.8000 | 793 | c.138 others(812): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(786): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03540.hp1 |
a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0019 | 2 | 3 | 0.6667 | 793 | c.138 others(812): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(786): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02897.hp1 HG03492.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0012a0001c0003t0025a0002c0002t0002 | a0001c0001t0012g0112 a0001c0003t0025g0294 a0002c0002t0002g0067 others(2): Show |
5 | 6 | 0.8333 | 793 | c.138 others(812): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(786): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0054 |
2 | 94 | 0.0213 | 793 | c.*65 others(804): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(786): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 NA18986.hp2 NA18991.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 a0002c0002t0003g0152 a0002c0002t0003g0186 others(1): Show |
4 | 96 | 0.0417 | 793 | c.*65 others(804): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(786): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0042 a0001c0001t0009g0300 |
2 | 94 | 0.0213 | 793 | c.*65 others(804): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(786): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0058 others(2): Show |
6 | 98 | 0.0612 | 793 | c.*65 others(804): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(786): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0201 | 1 | 2 | 0.5000 | 793 | c.162 others(814): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| CNOT3_chr19_54132762_54160681 | 54133822 | T | TCTCACCT others(786): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 215 | 0.0047 | 793 | c.-42 others(804): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3939 | chr19 | TogoVar | |||||||
| COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(786): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0016a0001c0020 | a0001c0016t0003a0001c0020t0001 | a0001c0016t0003g0002 a0001c0016t0003g0109 a0001c0020t0001g0110 |
4 | 183 | 0.0219 | 793 | c.85- others(810): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(786): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 NA18948.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0016 |
2 | 186 | 0.0108 | 793 | c.-84 others(802): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(786): Show |
upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 185 | 0.0054 | 793 | c.-84 others(802): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(786): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02055.hp2 HG02738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0002g0001 |
8 | 192 | 0.0417 | 793 | c.-84 others(802): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(786): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 5 | 189 | 0.0265 | 793 | c.-84 others(802): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(786): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 HG01516.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0049 others(1): Show |
9 | 193 | 0.0466 | 793 | c.-84 others(802): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| DCLK2_chr4_150073445_150262438 | 150251153 | C | CCACACAT others(786): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 97 | 0.0103 | 793 | c.207 others(812): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
| DIP2C_chr10_269201_694668 | 478383 | G | GGAGGGGA others(786): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0083 | 1 | 57 | 0.0175 | 793 | c.158 others(810): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
| DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(786): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0099 | a0004c0099t0002 | a0004c0099t0002g0133 | 1 | 214 | 0.0047 | 793 | c.118 others(812): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
| DOCK8_chr9_209865_470255 | 320273 | G | GGACCGAA others(786): Show |
intron_variant | MODIFIER | HG03209.hp2 NA20300.hp1 |
a0009a0019 | a0009c0034a0019c0030 | a0009c0034t0015a0019c0030t0001 | a0009c0034t0015g0218 a0019c0030t0001g0220 |
2 | 167 | 0.0120 | 793 | c.827 others(810): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320432 | T | TCAGAGAT others(786): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0033 | 1 | 166 | 0.0060 | 793 | c.827 others(810): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 321774 | C | CCAGAGAT others(786): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0097 | 1 | 215 | 0.0047 | 793 | c.828 others(810): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DPEP1_chr16_89608642_89643433 | 89634737 | C | CCCTTCCT others(786): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 189 | 0.0053 | 793 | c.105 others(810): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| FAM120B_chr6_170301758_170412067 | 170377401 | G | GTGCACAC others(786): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02615.hp2 HG02976.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0037 others(14): Show |
19 | 284 | 0.0669 | 793 | c.228 others(814): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(786): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 12 | 0.0833 | 793 | c.617 others(810): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(786): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 NA18970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0077 a0001c0001t0001g0089 others(1): Show |
4 | 15 | 0.2667 | 793 | c.617 others(810): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(786): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0006a0001c0004t0009a0001c0004t0023 | a0001c0004t0006g0049 a0001c0004t0006g0078 a0001c0004t0006g0080 others(2): Show |
5 | 6 | 0.8333 | 793 | c.123 others(814): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113824248 | A | AGGAGCAC others(786): Show |
intron_variant | MODIFIER | NA19064.hp2 NA19091.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 a0001c0003t0001g0045 |
2 | 92 | 0.0217 | 793 | c.147 others(810): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
| GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(786): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0012 | a0012c0017 | a0012c0017t0002 | a0012c0017t0002g0042 | 1 | 134 | 0.0075 | 793 | c.-28 others(804): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
| IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAGA others(786): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0031 | 1 | 233 | 0.0043 | 793 | c.127 others(812): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
| ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(786): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0151 | 1 | 124 | 0.0081 | 793 | c.*65 others(804): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(786): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 | 1 | 71 | 0.0141 | 793 | c.683 others(812): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(786): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0092 | 1 | 6 | 0.1667 | 793 | c.368 others(810): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364601 | C | CACCCACA others(786): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0088 | 1 | 269 | 0.0037 | 793 | c.129 others(810): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(786): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0188 | 1 | 8 | 0.1250 | 793 | c.115 others(810): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(786): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 64 | 0.0156 | 793 | c.225 others(810): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
| NKAIN2_chr6_123798865_124830640 | 124687570 | T | TTCCATAC others(786): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 36 | 0.0278 | 793 | c.474 others(812): Show |
NKAIN2 | ENSG00000188580.16 | transcript | ENST00000368417.6 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(786): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0264 | 1 | 276 | 0.0036 | 793 | c.195 others(810): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
| NUP93_chr16_56725129_56855286 | 56739350 | C | CCCCCCCC others(786): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0229 a0001c0001t0004g0230 |
2 | 352 | 0.0057 | 793 | c.-14 others(810): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 948826 | G | GGCCTCCT others(786): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0004 | 1 | 222 | 0.0045 | 793 | c.360 others(812): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| PAK2_chr3_196734857_196837647 | 196811306 | T | TTCCCTCC others(786): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 98 | 0.0102 | 793 | c.773 others(808): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| PNPLA7_chr9_137454952_137555402 | 137502730 | G | GGGGGGAC others(786): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0019 | 1 | 113 | 0.0088 | 793 | c.147 others(812): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
| RAPGEF4_chr2_172730845_173057893 | 172989367 | C | CCAACCAA others(786): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0136 others(1): Show |
4 | 176 | 0.0227 | 793 | c.137 others(810): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SCARA5_chr8_27864883_27997673 | 27918978 | A | AGGAGGAG others(786): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0010 | a0010c0034 | a0010c0034t0008 | a0010c0034t0008g0305 | 1 | 217 | 0.0046 | 793 | c.916 others(810): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
| SCNN1D_chr1_1275436_1297025 | 1289847 | G | GTCTCTGC others(786): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 227 | 0.0044 | 793 | c.166 others(810): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(786): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 28 | 0.0357 | 793 | c.113 others(812): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(786): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 2 | 263 | 0.0076 | 793 | c.199 others(810): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2419018 | C | CCCTTCCT others(786): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0016 | a0016c0026 | a0016c0026t0002 | a0016c0026t0002g0102 | 1 | 3 | 0.3333 | 793 | c.215 others(810): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50028618 | G | GAAGACCC others(786): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0094 | 1 | 172 | 0.0058 | 793 | c.225 others(812): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(786): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 12 | 0.0833 | 793 | c.55+ others(808): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(787): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 201 | 0.0050 | 794 | c.130 others(813): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar |