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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD1_chr5_98848985_98934007 | 98911146 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0027 | 1 | 119 | 0.0084 | 15 | c.54- others(30): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01928.hp1 HG03139.hp1 NA18951.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0012 a0001c0001t0001g0050 a0001c0001t0001g0277 others(3): Show |
6 | 124 | 0.0484 | 15 | c.54- others(30): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01358.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0103 a0001c0001t0001g0232 a0001c0001t0001g0246 others(19): Show |
22 | 122 | 0.1803 | 15 | c.53+ others(30): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92932835 | G | GCAACCTC others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(246): Show |
253 | 304 | 0.8322 | 15 | c.443 others(32): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 5/38 | chr15 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92999083 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0287 | 1 | 10 | 0.1000 | 15 | c.400 others(32): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(8): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01168.hp2 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0081 a0001c0001t0001g0127 a0001c0001t0001g0198 others(4): Show |
7 | 106 | 0.0660 | 15 | c.-36 others(26): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6580704 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0075 | 1 | 253 | 0.0040 | 15 | c.490 others(32): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6580704 | G | GGAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0051 | 1 | 253 | 0.0040 | 15 | c.490 others(32): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6140967 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01256.hp1 HG01496.hp2 others(15): Show |
a0001a0002a0004 | a0001c0005a0001c0007a0001c0008others(6): Show | a0001c0005t0059a0001c0007t0003a0001c0007t0044others(9): Show | a0001c0005t0059g0098 a0001c0007t0003g0043 a0001c0007t0003g0139 others(15): Show |
18 | 76 | 0.2368 | 15 | c.243 others(34): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 15/41 | chr1 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41431776 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01346.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 others(15): Show |
18 | 228 | 0.0789 | 15 | c.406 others(34): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 27/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03041.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0001 | a0001c0001t0002g0230 a0001c0001t0002g0239 a0001c0005t0001g0257 others(1): Show |
4 | 124 | 0.0323 | 15 | c.853 others(32): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41565651 | A | AGTACAAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(170): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0055 a0001c0001t0001g0202 a0001c0001t0001g0203 others(170): Show |
173 | 322 | 0.5373 | 15 | c.-23 others(34): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21442636 | A | AAGGGGAG others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03490.hp2 HG04204.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0161 a0001c0001t0001g0202 a0001c0001t0003g0248 others(1): Show |
4 | 255 | 0.0157 | 15 | c.-21 others(36): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21454162 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 others(17): Show |
20 | 73 | 0.2740 | 15 | c.-21 others(34): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53053120 | T | TCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0142 | 1 | 402 | 0.0025 | 15 | c.-54 others(24): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 224 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53053120 | T | TCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 236 | 0.0042 | 15 | c.-21 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1870 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53068992 | C | CTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0161 | 1 | 230 | 0.0043 | 15 | c.-16 others(36): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53090931 | T | TGCAGGGA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(181): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0025 others(181): Show |
184 | 236 | 0.7797 | 15 | c.-16 others(36): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53107459 | C | CAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0098 a0001c0001t0001g0230 others(4): Show |
7 | 101 | 0.0693 | 15 | c.-16 others(36): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53310857 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03516.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0153 a0001c0001t0003g0030 a0001c0001t0003g0096 others(1): Show |
4 | 85 | 0.0471 | 15 | c.722 others(34): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53810758 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0022a0001c0001t0073others(1): Show | a0001c0001t0013g0002 a0001c0001t0022g0227 a0001c0001t0073g0052 others(1): Show |
6 | 110 | 0.0545 | 15 | c.*70 others(26): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 1576 | chr3 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28698228 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(37): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0005t0001 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(36): Show |
40 | 142 | 0.2817 | 15 | c.100 others(34): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28705968 | A | AAAACTAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(160): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(159): Show |
163 | 175 | 0.9314 | 15 | c.847 others(32): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28705991 | A | ACTAAACT others(8): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 382 | 0.0026 | 15 | c.847 others(32): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 7/14 | chr22 | TogoVar | |||||||
CHEK2_chr22_28682743_28746820 | 28729540 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 101 | 0.0099 | 15 | c.320 others(32): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | |||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0001 | 1 | 42 | 0.0238 | 15 | c.-27 others(26): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5910069 | C | CAATACAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG03130.hp1 |
a0002a0011 | a0002c0002a0011c0011 | a0002c0002t0002a0011c0011t0001 | a0002c0002t0002g0136 a0011c0011t0001g0024 |
2 | 434 | 0.0046 | 15 | c.-15 others(26): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1440 | chr20 | TogoVar | |||||||
CHGB_chr20_5906510_5930353 | 5918163 | A | AAACAAAC others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 415 | 0.0024 | 15 | c.190 others(32): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01516.hp2 HG02165.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0001 | a0001c0001t0005g0050 a0002c0003t0001g0037 a0002c0003t0001g0111 |
4 | 107 | 0.0374 | 15 | c.41- others(28): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54034577 | T | TATTTTTT others(8): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 242 | 0.0041 | 15 | c.330 others(34): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 239595 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0014 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0003g0276 others(2): Show |
5 | 178 | 0.0281 | 15 | c.-17 others(34): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | chr3 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 333124 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(53): Show |
a0001a0002a0007others(3): Show | a0001c0001a0002c0002a0002c0028others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(53): Show |
56 | 138 | 0.4058 | 15 | c.385 others(32): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHMP2B_chr3_87222309_87260556 | 87257942 | C | CAATAATA others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0125 others(7): Show |
35 | 192 | 0.1823 | 15 | c.*41 others(26): Show |
CHMP2B | ENSG00000083937.10 | transcript | ENST00000263780.9 | protein_coding | 2387 | chr3 | TogoVar | |||||||
CHMP4B_chr20_33806348_33859366 | 33830933 | G | GGTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 113 | 0.0088 | 15 | c.191 others(34): Show |
CHMP4B | ENSG00000101421.4 | transcript | ENST00000217402.3 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
CHMP4B_chr20_33806348_33859366 | 33830933 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(57): Show |
95 | 207 | 0.4589 | 15 | c.191 others(34): Show |
CHMP4B | ENSG00000101421.4 | transcript | ENST00000217402.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHMP4C_chr8_81727448_81764515 | 81730211 | T | TCTCCCCT others(8): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 406 | 0.0025 | 15 | c.-24 others(26): Show |
CHMP4C | ENSG00000164695.5 | transcript | ENST00000297265.5 | protein_coding | 2236 | chr8 | TogoVar | |||||||
CHMP7_chr8_23238637_23266999 | 23252195 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00738.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0107 others(33): Show |
46 | 124 | 0.3710 | 15 | c.471 others(32): Show |
CHMP7 | ENSG00000147457.14 | transcript | ENST00000397677.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0235 | 1 | 113 | 0.0088 | 15 | c.*83 others(26): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0019 a0001c0001t0003g0081 |
2 | 46 | 0.0435 | 15 | c.116 others(34): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 86013733 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02886.hp1 HG02896.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0044 a0001c0001t0001g0106 a0001c0001t0001g0110 others(7): Show |
10 | 189 | 0.0529 | 15 | c.116 others(34): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 2/14 | chrX | TogoVar | |||||||
CHN1_chr2_174793809_175010381 | 174847773 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 70 | 0.0143 | 15 | c.550 others(30): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29233825 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0129 a0001c0001t0001g0222 a0001c0001t0005g0209 others(19): Show |
22 | 67 | 0.3284 | 15 | c.49+ others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252578 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01169.hp2 NA18948.hp1 NA19060.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0009a0002c0004t0007 | a0001c0001t0001g0015 a0001c0001t0009g0037 a0002c0004t0007g0041 |
3 | 119 | 0.0252 | 15 | c.49+ others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252581 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 230 | 0.0043 | 15 | c.49+ others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29252586 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0069 a0001c0001t0001g0083 a0001c0001t0001g0222 others(32): Show |
35 | 227 | 0.1542 | 15 | c.49+ others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29268322 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 229 | 0.0044 | 15 | c.49+ others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
CHN2_chr7_29189775_29519328 | 29396459 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0178 | 1 | 90 | 0.0111 | 15 | c.177 others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29437597 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18998.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0062 a0001c0001t0003g0193 |
3 | 162 | 0.0185 | 15 | c.576 others(34): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29442934 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02148.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0008a0002c0003t0004 | a0001c0001t0001g0075 a0001c0001t0008g0218 a0002c0003t0004g0195 |
3 | 91 | 0.0330 | 15 | c.577 others(34): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29473482 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0033 | 1 | 125 | 0.0080 | 15 | c.577 others(32): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | chr7 | TogoVar |