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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHD1L_chr1_147237684_147300762 | 147276263 | A | G | splice_region_variant others(1): Show |
LOW | HG03831.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0061 | 1 | 418 | 0.0024 | 0 | c.153 others(6): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 14/22 | chr1 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147287627 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(58): Show |
a0003a0007a0013 | a0003c0003a0003c0012a0007c0015others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0012t0002others(2): Show | a0003c0003t0001g0013a0003c0003t0001g0163a0003c0003t0001g0182others(44): Show | 61 | 418 | 0.1459 | 0 | c.222 others(6): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 18/22 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98858398 | A | G | splice_region_variant others(1): Show |
LOW | HG01168.hp1 HG01169.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125a0002c0002t0002g0126 | 2 | 334 | 0.0060 | 0 | c.457 others(6): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 34/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98881276 | T | A | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG02622.hp1 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005 | a0001c0003t0002g0227a0001c0003t0002g0228a0001c0003t0005g0017 | 3 | 334 | 0.0090 | 0 | c.296 others(6): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 21/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92979132 | C | T | splice_region_variant others(1): Show |
LOW | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 306 | 0.0033 | 0 | c.272 others(6): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 21/38 | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7890741 | G | A | splice_region_variant others(1): Show |
LOW | NA21309.hp2 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0204 | 1 | 366 | 0.0027 | 0 | c.384 others(3): Show |
p.Lys others(6): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3/40 | 596/7385 | 384/6003 | 128/2000 | chr17 | TogoVar | ||
CHD3_chr17_7883789_7917755 | 7893935 | G | A | splice_region_variant others(1): Show |
LOW | NA18942.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0003 | 1 | 366 | 0.0027 | 0 | c.924 others(3): Show |
p.Ser others(6): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 6/40 | 1136/7385 | 924/6003 | 308/2000 | chr17 | TogoVar | ||
CHD4_chr12_6565082_6612379 | 6582286 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00733.hp1 others(54): Show |
a0001 | a0001c0002a0001c0004a0001c0013 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(2): Show | a0001c0002t0001g0258a0001c0002t0001g0267a0001c0002t0002g0004others(44): Show | 57 | 374 | 0.1524 | 0 | c.437 others(6): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6598219 | T | C | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02109.hp1 HG02622.hp2 others(5): Show |
a0003a0005 | a0003c0006a0005c0015 | a0003c0006t0002a0005c0015t0002 | a0003c0006t0002g0042a0003c0006t0002g0043a0003c0006t0002g0044others(5): Show | 8 | 374 | 0.0214 | 0 | c.168 others(6): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 11/39 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6598430 | G | A | splice_region_variant others(1): Show |
LOW | HG01346.hp2 HG01361.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135a0001c0002t0001g0255 | 2 | 374 | 0.0054 | 0 | c.148 others(6): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 10/39 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6601957 | C | T | splice_region_variant others(1): Show |
LOW | HG00733.hp1 HG01346.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0062a0001c0004t0002g0063 | 2 | 374 | 0.0054 | 0 | c.438 others(5): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 4/39 | chr12 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6121240 | G | A | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0008a0001c0010a0001c0024 | a0001c0008t0012a0001c0010t0012a0001c0024t0012 | a0001c0008t0012g0222a0001c0008t0012g0223a0001c0008t0012g0296others(2): Show | 6 | 320 | 0.0188 | 0 | c.478 others(6): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 32/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6124668 | T | TG | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG00408.hp1 HG00438.hp2 others(139): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(29): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0003g0146a0001c0001t0003g0150a0001c0001t0003g0159others(138): Show | 142 | 320 | 0.4438 | 1 | c.439 others(7): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 29/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6124668 | T | TGG | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(58): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(39): Show | a0001c0001t0003g0079a0001c0001t0003g0097a0001c0001t0003g0114others(58): Show | 61 | 320 | 0.1906 | 2 | c.439 others(15): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 29/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6128040 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02145.hp1 HG02559.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004a0001c0009others(3): Show | a0001c0001t0011a0001c0004t0011a0001c0009t0011others(4): Show | a0001c0001t0011g0232a0001c0001t0011g0234a0001c0001t0011g0297others(8): Show | 11 | 320 | 0.0344 | 0 | c.390 others(6): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 25/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6143934 | G | A | splice_region_variant others(1): Show |
LOW | HG02647.hp1 | a0001 | a0001c0009 | a0001c0009t0041 | a0001c0009t0041g0014 | 1 | 320 | 0.0031 | 0 | c.193 others(6): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 12/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6144162 | C | G | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00673.hp2 HG01099.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0054a0001c0001t0068a0001c0004t0003others(29): Show | a0001c0001t0054g0292a0001c0001t0068g0085a0001c0004t0003g0267others(46): Show | 49 | 320 | 0.1531 | 0 | c.180 others(6): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 11/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6149418 | G | A | splice_region_variant others(1): Show |
LOW | NA18947.hp1 NA19074.hp2 |
a0001 | a0001c0004 | a0001c0004t0004a0001c0004t0030 | a0001c0004t0004g0270a0001c0004t0030g0269 | 2 | 320 | 0.0063 | 0 | c.995 others(5): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6154905 | G | T | splice_region_variant others(1): Show |
LOW | HG04199.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0106 | 1 | 320 | 0.0031 | 0 | c.507 others(5): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 4/41 | chr1 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41533045 | C | T | splice_region_variant others(1): Show |
LOW | HG02698.hp1 HG03239.hp1 HG06807.hp2 |
a0004 | a0004c0013a0004c0026 | a0004c0013t0001a0004c0026t0001 | a0004c0013t0001g0001a0004c0013t0001g0002a0004c0026t0001g0003 | 3 | 324 | 0.0093 | 0 | c.554 others(5): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 3/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60816506 | G | A | splice_region_variant others(1): Show |
LOW | NA20300.hp1 | a0001 | a0001c0027 | a0001c0027t0027 | a0001c0027t0027g0185 | 1 | 236 | 0.0042 | 0 | c.261 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 8/37 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60823835 | T | C | splice_region_variant others(1): Show |
LOW | NA18952.hp2 NA19057.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033a0001c0001t0042 | a0001c0001t0001g0054a0001c0001t0033g0008a0001c0001t0042g0055 | 3 | 236 | 0.0127 | 0 | c.320 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 12/37 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60845246 | C | T | splice_region_variant others(1): Show |
LOW | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 236 | 0.0042 | 0 | c.505 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 22/37 | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60852714 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(31): Show |
a0001a0010 | a0001c0002a0001c0006a0001c0007others(4): Show | a0001c0002t0005a0001c0002t0006a0001c0002t0020others(10): Show | a0001c0002t0005g0098a0001c0002t0005g0101a0001c0002t0005g0111others(31): Show | 34 | 236 | 0.1441 | 0 | c.610 others(6): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 30/37 | chr8 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21402330 | A | G | splice_region_variant others(1): Show |
LOW | HG01891.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0254 | 1 | 260 | 0.0039 | 0 | c.388 others(6): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 19/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21406853 | C | A | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0077 | 1 | 260 | 0.0039 | 0 | c.290 others(6): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 14/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21414424 | G | A | splice_region_variant others(1): Show |
LOW | HG01261.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0125 | 1 | 260 | 0.0039 | 0 | c.202 others(6): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 8/37 | chr14 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53231512 | A | G | splice_region_variant others(1): Show |
LOW | HG02970.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0032 | 1 | 238 | 0.0042 | 0 | c.237 others(6): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 9/38 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53304631 | A | G | splice_region_variant others(1): Show |
LOW | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0097 | 1 | 238 | 0.0042 | 0 | c.661 others(6): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 31/38 | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53819047 | G | T | splice_region_variant others(1): Show |
LOW | HG01109.hp2 HG03704.hp1 |
a0002 | a0002c0002 | a0002c0002t0092a0002c0002t0167 | a0002c0002t0092g0116a0002c0002t0167g0327 | 2 | 392 | 0.0051 | 0 | c.126 others(6): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 7/8 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53819048 | A | T | splice_region_variant others(1): Show |
LOW | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0092 | a0002c0002t0092g0116 | 1 | 392 | 0.0026 | 0 | c.126 others(6): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 7/8 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53822641 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02486.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0052a0001c0007t0053a0001c0007t0151others(2): Show | a0001c0007t0052g0025a0001c0007t0053g0210a0001c0007t0151g0209others(2): Show | 6 | 392 | 0.0153 | 0 | c.705 others(3): Show |
p.Gly others(6): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 4/9 | 1172/7694 | 705/1785 | 235/594 | chr3 | TogoVar | ||
CHDH_chr3_53807335_53851419 | 53822645 | G | A | splice_region_variant others(1): Show |
LOW | HG02723.hp1 HG02922.hp1 HG02976.hp1 |
a0001 | a0001c0003 | a0001c0003t0031a0001c0003t0068 | a0001c0003t0031g0010a0001c0003t0068g0044 | 3 | 392 | 0.0077 | 0 | c.704 others(5): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28699830 | T | C | splice_region_variant others(1): Show |
LOW | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 384 | 0.0026 | 0 | c.100 others(6): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | ||||||
CHERP_chr19_16512894_16547437 | 16519613 | C | T | splice_region_variant others(1): Show |
LOW | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 330 | 0.0030 | 0 | c.255 others(6): Show |
CHERP | ENSG00000085872.15 | transcript | ENST00000546361.7 | protein_coding | 16/16 | chr19 | TogoVar | ||||||
CHERP_chr19_16512894_16547437 | 16520511 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(155): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0046others(123): Show | 158 | 330 | 0.4788 | 0 | c.220 others(6): Show |
CHERP | ENSG00000085872.15 | transcript | ENST00000546361.7 | protein_coding | 13/16 | chr19 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132887189 | C | T | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG02735.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0313a0003c0003t0001g0314a0003c0003t0001g0315others(1): Show | 4 | 378 | 0.0106 | 0 | c.133 others(5): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 2/17 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92929719 | G | A | missense_variant others(1): Show |
MODERATE | NA18970.hp2 | a0026 | a0026c0015 | a0026c0015t0001 | a0026c0015t0001g0003 | 1 | 447 | 0.0022 | 0 | c.259 others(3): Show |
p.Ala others(5): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 5/8 | 469/1985 | 259/1374 | 87/457 | chr14 | TogoVar | ||
CHGA_chr14_92918150_92940285 | 92931706 | C | T | splice_region_variant others(1): Show |
LOW | NA18960.hp1 NA18963.hp1 NA19070.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0024 | 3 | 447 | 0.0067 | 0 | c.808 others(5): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 6/7 | chr14 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92932372 | C | T | missense_variant others(1): Show |
MODERATE | HG01361.hp1 | a0020 | a0020c0029 | a0020c0029t0001 | a0020c0029t0001g0035 | 1 | 447 | 0.0022 | 0 | c.811 others(3): Show |
p.Arg others(6): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 7/8 | 1021/1985 | 811/1374 | 271/457 | chr14 | TogoVar | ||
CHI3L1_chr1_203173931_203191704 | 203185384 | G | A | splice_region_variant others(1): Show |
LOW | NA19012.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0083 | 1 | 468 | 0.0021 | 0 | c.57C others(2): Show |
p.Cys others(5): Show |
CHI3L1 | ENSG00000133048.13 | transcript | ENST00000255409.8 | protein_coding | 3/10 | 138/1747 | 57/1152 | 19/383 | chr1 | TogoVar | ||
CHI3L2_chr1_111222713_111248440 | 111230946 | G | C | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(172): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(57): Show | 175 | 434 | 0.4032 | 0 | c.272 others(5): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 3/10 | chr1 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111241320 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(90): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0013a0007c0008others(2): Show | a0001c0001t0001a0001c0013t0001a0007c0008t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(23): Show | 93 | 434 | 0.2143 | 0 | c.919 others(5): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 8/10 | chr1 | TogoVar | ||||||
CHIA_chr1_111285851_111325563 | 111312187 | C | T | splice_region_variant others(1): Show |
LOW | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 426 | 0.0024 | 0 | c.56- others(4): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
CHIA_chr1_111285851_111325563 | 111314532 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(248): Show |
a0002a0003a0004others(9): Show | a0002c0002a0003c0003a0004c0004others(14): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(23): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0010others(167): Show | 251 | 426 | 0.5892 | 0 | c.258 others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
CHIA_chr1_111285851_111325563 | 111320533 | AAGTCCTG others(29): Show |
A | splice_region_variant | LOW | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0048 | 1 | 426 | 0.0024 | -36 | c.*68 others(44): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 12/12 | chr1 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 869959 | G | A | splice_region_variant others(1): Show |
LOW | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 386 | 0.0026 | 0 | c.108 others(6): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 12/12 | chr11 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 900929 | C | G | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(258): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(218): Show | 261 | 386 | 0.6762 | 0 | c.439 others(5): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 5/12 | chr11 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 904857 | G | A | splice_region_variant | LOW | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0187 | 1 | 386 | 0.0026 | 0 | c.-41 others(3): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 2/13 | chr11 | TogoVar | ||||||
CHIT1_chr1_203211079_203234673 | 203217735 | T | C | splice_region_variant others(1): Show |
LOW | NA18944.hp1 NA18960.hp1 NA18961.hp1 others(7): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013a0003c0003t0001g0022 | 10 | 484 | 0.0207 | 0 | c.115 others(6): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/10 | chr1 | TogoVar |