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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20320375 | A | ATATATAT | intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0009 | a0002c0009t0002a0002c0009t0003 | a0002c0009t0002g0104a0002c0009t0002g0106a0002c0009t0003g0107 | 3 | 236 | 0.0127 | 7 | c.342 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20320401 | G | GTAATATA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp2 others(52): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0006a0001c0026others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0028a0001c0001t0001g0078a0001c0001t0001g0079others(52): Show | 55 | 236 | 0.2331 | 7 | c.342 others(28): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP65_chr2_218997846_219046516 | 219012071 | C | CCACCAAA | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02647.hp2 others(2): Show |
a0004a0005 | a0004c0004a0005c0043a0005c0044others(1): Show | a0004c0004t0001a0005c0043t0001a0005c0044t0001others(1): Show | a0004c0004t0001g0093a0004c0004t0001g0094a0005c0043t0001g0053others(2): Show | 5 | 322 | 0.0155 | 7 | c.395 others(26): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 24/34 | chr2 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1945842 | A | AAAAGAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(79): Show |
a0001a0008a0010others(15): Show | a0001c0001a0001c0006a0001c0020others(24): Show | a0001c0001t0001a0001c0006t0001a0001c0020t0001others(24): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0022others(79): Show | 82 | 278 | 0.2950 | 7 | c.236 others(24): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 20/38 | chr1 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132458357 | G | GGTGGGGT | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01192.hp1 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0068a0001c0001t0001g0074others(25): Show | 28 | 322 | 0.0870 | 7 | c.196 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP77_chr9_132405211_132578319 | 132469838 | A | ATTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp2 HG02109.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0002a0001c0005t0002 | a0001c0001t0001g0152a0001c0001t0001g0168a0001c0001t0001g0222others(3): Show | 6 | 322 | 0.0186 | 7 | c.196 others(26): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119738332 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01109.hp2 HG02015.hp1 others(17): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0022 | a0001c0001t0001a0001c0002t0006a0009c0022t0005 | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0001t0001g0119others(17): Show | 20 | 386 | 0.0518 | 7 | c.146 others(24): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP91_chr3_119698022_119772102 | 119766234 | T | TCCCACAG | 3_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01106.hp2 HG01884.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0004a0001c0003t0004a0002c0004t0004others(2): Show | a0001c0001t0004g0012a0001c0001t0004g0160a0001c0003t0004g0305others(13): Show | 18 | 386 | 0.0466 | 7 | c.*11 others(18): Show |
CFAP91 | ENSG00000183833.16 | transcript | ENST00000273390.9 | protein_coding | 18/18 | 15146 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CFDP1_chr16_75288710_75438503 | 75346582 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01515.hp2 others(10): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0003c0004t0001 | a0001c0002t0001g0029a0001c0002t0001g0037a0001c0002t0001g0038others(10): Show | 13 | 314 | 0.0414 | 7 | c.651 others(26): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CFHR2_chr1_196938738_196964622 | 196943183 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG02145.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0048others(4): Show | 13 | 370 | 0.0351 | 7 | c.-69 others(16): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 554 | chr1 | TogoVar | ||||||
CFHR4_chr1_196883052_196923633 | 196885562 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027a0002c0002t0001g0059a0002c0002t0001g0061 | 4 | 350 | 0.0114 | 7 | c.-25 others(18): Show |
CFHR4 | ENSG00000134365.15 | transcript | ENST00000608469.6 | protein_coding | 2489 | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753507 | A | ATATATAT | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp1 others(66): Show |
a0001a0004a0005others(3): Show | a0001c0002a0004c0005a0005c0007others(3): Show | a0001c0002t0001a0001c0002t0004a0004c0005t0001others(4): Show | a0001c0002t0001g0001a0001c0002t0001g0008a0001c0002t0001g0022others(65): Show | 69 | 354 | 0.1949 | 7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753507 | A | ATGTATAT | intron_variant | MODIFIER | NA18956.hp2 NA18969.hp2 NA18991.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037a0001c0002t0001g0040a0001c0002t0001g0081others(1): Show | 4 | 354 | 0.0113 | 7 | c.905 others(24): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA | intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0003g0148 | 3 | 354 | 0.0085 | 7 | c.904 others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109762189 | T | TAAAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG02027.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0174a0001c0001t0001g0276a0001c0002t0001g0051others(7): Show | 10 | 354 | 0.0283 | 7 | c.483 others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109800048 | A | ATTTTTGG | intron_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02886.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0001 | a0001c0002t0002g0012a0003c0004t0001g0149a0003c0004t0001g0150 | 3 | 354 | 0.0085 | 7 | c.57+ others(22): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34718777 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG01891.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(7): Show | a0001c0001t0005g0005a0001c0001t0011g0011a0001c0001t0014g0016others(7): Show | 26 | 431 | 0.0603 | 7 | c.-42 others(18): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4185 | chr14 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114047 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG02071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0001g0019a0001c0001t0005g0068a0001c0001t0009g0047others(6): Show | 9 | 234 | 0.0385 | 7 | c.-25 others(18): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2116 | chr2 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73442404 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02165.hp1 HG02559.hp1 others(23): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0006a0001c0002t0008a0001c0002t0013others(10): Show | a0001c0002t0006g0117a0001c0002t0006g0119a0001c0002t0006g0120others(20): Show | 26 | 410 | 0.0634 | 7 | c.878 others(24): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00673.hp2 others(52): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0006others(3): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(17): Show | a0001c0002t0002g0323a0001c0002t0006g0010a0001c0002t0007g0015others(49): Show | 55 | 410 | 0.1342 | 7 | c.-13 others(18): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01123.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0008g0014others(12): Show | 41 | 422 | 0.0972 | 7 | c.-39 others(18): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01070.hp2 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(12): Show | 63 | 358 | 0.1760 | 7 | c.*51 others(18): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57437619 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02004.hp2 HG02132.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0025others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(2): Show | a0001c0001t0001g0049a0001c0001t0001g0226a0001c0001t0002g0182others(3): Show | 6 | 294 | 0.0204 | 7 | c.-15 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(77): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0011others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0059a0001c0001t0001g0065a0001c0001t0001g0073others(77): Show | 80 | 294 | 0.2721 | 7 | c.240 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57481064 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp2 others(22): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0008a0004c0004others(3): Show | a0002c0002t0003a0002c0002t0018a0002c0008t0003others(6): Show | a0002c0002t0003g0031a0002c0002t0003g0068a0002c0002t0003g0081others(22): Show | 25 | 294 | 0.0850 | 7 | c.240 others(28): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGRRF1_chr14_54504906_54544292 | 54506695 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02071.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0015others(24): Show | 34 | 338 | 0.1006 | 7 | c.-32 others(18): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 3210 | chr14 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4399319 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01109.hp1 others(6): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0008 | a0001c0001t0004a0001c0003t0003a0006c0008t0003 | a0001c0001t0004g0327a0001c0003t0003g0013a0001c0003t0003g0283others(5): Show | 9 | 384 | 0.0234 | 7 | c.-34 others(18): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3320 | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT | intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG02056.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028a0002c0002t0002g0059a0002c0002t0002g0060others(10): Show | 13 | 384 | 0.0339 | 7 | c.104 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHCHD3_chr7_132779870_133087090 | 132824314 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01261.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0076a0001c0001t0001g0077others(11): Show | 14 | 310 | 0.0452 | 7 | c.524 others(26): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132879716 | T | TAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01175.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0023a0001c0001t0001g0061others(7): Show | 10 | 310 | 0.0323 | 7 | c.453 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0118a0001c0001t0001g0131others(7): Show | 10 | 216 | 0.0463 | 7 | c.412 others(26): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHCT1_chr17_60417489_60436426 | 60422013 | T | TACCCAGC | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0002t0001g0030others(24): Show | 78 | 322 | 0.2422 | 7 | c.-58 others(16): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 475 | chr17 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147288322 | C | CATAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0001a0001c0006t0001 | a0001c0001t0001g0308a0001c0001t0001g0309a0001c0001t0001g0316others(4): Show | 7 | 418 | 0.0168 | 7 | c.232 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHD1L_chr1_147237684_147300762 | 147288339 | A | AGAAAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(65): Show |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0001a0002c0002t0001 | a0001c0007t0001g0029a0001c0007t0001g0146a0001c0007t0001g0147others(48): Show | 68 | 418 | 0.1627 | 7 | c.232 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | chr1 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147288346 | A | AAAAAAAG | intron_variant | MODIFIER | HG00544.hp2 HG01099.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0003a0001c0009t0003a0001c0010t0003others(1): Show | a0001c0001t0003g0214a0001c0001t0003g0215a0001c0001t0003g0216others(9): Show | 12 | 418 | 0.0287 | 7 | c.232 others(24): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 19/22 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp2 HG01243.hp1 others(26): Show |
a0002a0003 | a0002c0002a0003c0009 | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(5): Show | a0002c0002t0002g0074a0002c0002t0002g0077a0002c0002t0002g0079others(26): Show | 29 | 334 | 0.0868 | 7 | c.53+ others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92909073 | G | GACACACC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0027others(90): Show | 94 | 306 | 0.3072 | 7 | c.62+ others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92965565 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0008a0001c0017t0009 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0271others(3): Show | 6 | 306 | 0.0196 | 7 | c.200 others(26): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD4_chr12_6565082_6612379 | 6580727 | A | AAAAAAAG | intron_variant | MODIFIER | HG02145.hp2 HG03453.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0002t0002a0001c0013t0002 | a0001c0002t0001g0267a0001c0002t0002g0055a0001c0002t0002g0057others(3): Show | 6 | 374 | 0.0160 | 7 | c.490 others(24): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02970.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0025a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0202a0001c0001t0001g0206a0001c0001t0001g0215others(8): Show | 11 | 324 | 0.0340 | 7 | c.853 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41580645 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp2 HG01358.hp1 others(12): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0055a0001c0001t0001g0222a0001c0001t0001g0275others(12): Show | 15 | 324 | 0.0463 | 7 | c.-23 others(26): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60679204 | C | CGGGGCGA | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG03041.hp2 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0006a0001c0008t0010 | a0001c0002t0006g0234a0001c0002t0006g0235a0001c0008t0010g0236 | 3 | 236 | 0.0127 | 7 | c.-17 others(24): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60680408 | G | GCGGGGGC | intron_variant | MODIFIER | NA18962.hp2 NA18986.hp1 NA19057.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0034a0001c0001t0045 | a0001c0001t0004g0045a0001c0001t0004g0127a0001c0001t0034g0126others(1): Show | 4 | 236 | 0.0170 | 7 | c.-17 others(26): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | chr8 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21457628 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG03471.hp2 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0016 | a0001c0001t0001a0002c0002t0001a0005c0016t0003 | a0001c0001t0001g0132a0001c0001t0001g0155a0002c0002t0001g0119others(2): Show | 5 | 260 | 0.0192 | 7 | c.-18 others(18): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1506 | chr14 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204044 | A | ATATATAT | intron_variant | MODIFIER | HG02970.hp1 HG03688.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0032a0001c0005t0005g0061 | 2 | 238 | 0.0084 | 7 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53204046 | A | ATATATAT | intron_variant | MODIFIER | HG04184.hp2 NA18981.hp2 NA19068.hp1 others(1): Show |
a0001a0009 | a0001c0005a0009c0018 | a0001c0005t0005a0009c0018t0005 | a0001c0005t0005g0089a0001c0005t0005g0135a0001c0005t0005g0151others(1): Show | 4 | 238 | 0.0168 | 7 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | chr16 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92920654 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0007others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0007t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0015others(11): Show | 28 | 447 | 0.0626 | 7 | c.-27 others(18): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 2495 | chr14 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111226679 | A | ATTTTTAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(150): Show | 433 | 434 | 0.9977 | 7 | c.-10 others(18): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1033 | chr1 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111229681 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01106.hp1 HG01123.hp1 others(51): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0001t0003g0010a0001c0001t0003g0093a0001c0001t0003g0096others(21): Show | 54 | 434 | 0.1244 | 7 | c.41- others(20): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHKA_chr11_68047859_68126388 | 68113081 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00621.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0001g0164a0001c0001t0001g0165a0001c0001t0001g0229others(15): Show | 18 | 276 | 0.0652 | 7 | c.350 others(24): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 1/11 | chr11 | TogoVar |