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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHCT1_chr17_60417489_60436426 | 60420069 | GTTTAT | G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp1 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0035a0001c0004t0001g0037others(18): Show | 80 | 322 | 0.2485 | -5 | c.-25 others(16): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2419 | chr17 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147298705 | ATTTAT | A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02257.hp1 others(13): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003a0004c0005t0002g0060a0004c0005t0002g0061others(9): Show | 16 | 418 | 0.0383 | -5 | c.*31 others(16): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 2944 | chr1 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883856 | TATATA | T | intron_variant | MODIFIER | HG01099.hp2 HG02074.hp1 HG02647.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0094a0001c0001t0001g0095a0001c0001t0001g0171others(7): Show | 10 | 334 | 0.0299 | -5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883857 | ATATAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00738.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0047a0001c0001t0001g0138others(35): Show | 40 | 334 | 0.1198 | -5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98883859 | ATATTT | A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG04204.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0090a0001c0001t0001g0147a0001c0001t0001g0159others(4): Show | 7 | 334 | 0.0210 | -5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98903308 | TTGTTA | T | intron_variant | MODIFIER | HG04199.hp1 NA18947.hp2 NA18950.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0018 | a0002c0002t0007g0008a0002c0002t0007g0009a0002c0002t0007g0010others(2): Show | 5 | 334 | 0.0150 | -5 | c.373 others(20): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92965565 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0007a0001c0001t0003g0274a0001c0001t0005g0179others(6): Show | 9 | 306 | 0.0294 | -5 | c.200 others(24): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 92999083 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00642.hp2 others(49): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0016a0001c0001t0006g0266others(49): Show | 52 | 306 | 0.1699 | -5 | c.400 others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 93010319 | CTTCTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00639.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(11): Show | a0001c0001t0001g0016a0001c0001t0020g0113a0001c0002t0001g0234others(35): Show | 38 | 306 | 0.1242 | -5 | c.459 others(24): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 35/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD2_chr15_92895324_93032996 | 93015531 | TAACTG | T | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0141a0001c0002t0001g0091a0001c0002t0001g0286others(9): Show | 13 | 306 | 0.0425 | -5 | c.490 others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 37/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHD3_chr17_7883789_7917755 | 7912881 | CTTAGA | C | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18944.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0003a0001c0011t0001g0003 | 3 | 366 | 0.0082 | -5 | c.*12 others(16): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 127 | chr17 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6574479 | CTTAAT | C | intron_variant | MODIFIER | HG00438.hp1 NA18944.hp1 NA18951.hp2 others(6): Show |
a0002 | a0002c0001a0002c0012 | a0002c0001t0001a0002c0012t0001 | a0002c0001t0001g0012a0002c0001t0001g0022a0002c0001t0001g0164others(3): Show | 9 | 374 | 0.0241 | -5 | c.536 others(24): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 37/39 | chr12 | TogoVar | ||||||
CHD4_chr12_6565082_6612379 | 6607669 | CCAACA | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01255.hp1 others(14): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0032a0001c0002t0001g0033a0001c0002t0001g0232others(14): Show | 17 | 374 | 0.0455 | -5 | c.-45 others(14): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 291 | chr12 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0007 | a0001c0001t0002g0195a0001c0001t0002g0196a0001c0001t0002g0227others(13): Show | 16 | 324 | 0.0494 | -5 | c.612 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41448110 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0072a0001c0001t0001g0088others(13): Show | 16 | 324 | 0.0494 | -5 | c.368 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 23/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41478991 | AAAAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp2 HG02451.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0003t0001a0005c0007t0001 | a0001c0001t0001g0211a0001c0003t0001g0284a0001c0003t0001g0285others(12): Show | 15 | 324 | 0.0463 | -5 | c.246 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41501995 | CTAATT | C | intron_variant | MODIFIER | HG02004.hp1 HG02273.hp1 HG03490.hp1 others(6): Show |
a0002a0007a0019 | a0002c0004a0007c0012a0019c0027 | a0002c0004t0004a0007c0012t0004a0019c0027t0001 | a0002c0004t0004g0311a0002c0004t0004g0312a0002c0004t0004g0313others(6): Show | 9 | 324 | 0.0278 | -5 | c.853 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | ||||||
CHD6_chr20_41397083_41623377 | 41562840 | TGGGTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(56): Show |
a0001a0003a0006 | a0001c0001a0003c0006a0006c0009 | a0001c0001t0002a0001c0001t0006a0003c0006t0002others(1): Show | a0001c0001t0002g0149a0001c0001t0002g0195a0001c0001t0002g0196others(56): Show | 59 | 324 | 0.1821 | -5 | c.-23 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60686348 | TAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(140): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0002a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(140): Show | 143 | 236 | 0.6059 | -5 | 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 | 60714406 | GCCCCC | G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02055.hp2 others(25): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0012others(11): Show | a0001c0001t0003g0021a0001c0001t0003g0022a0001c0001t0003g0027others(25): Show | 28 | 236 | 0.1186 | -5 | c.-17 others(26): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD7_chr8_60673740_60873028 | 60863003 | AAAAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01109.hp2 others(35): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0006others(11): Show | a0001c0001t0003g0021a0001c0001t0003g0078a0001c0001t0003g0080others(35): Show | 38 | 236 | 0.1610 | -5 | c.807 others(22): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHD8_chr14_21380199_21461123 | 21387979 | GTTAAA | G | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0239a0001c0009t0001g0240 | 2 | 260 | 0.0077 | -5 | c.718 others(24): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 37/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21442680 | AGAGGG | A | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0001t0005a0001c0014t0001 | a0001c0001t0003g0128a0001c0001t0003g0130a0001c0001t0003g0142others(13): Show | 16 | 260 | 0.0615 | -5 | c.-21 others(26): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21454162 | AAAAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(67): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0070a0001c0001t0001g0096a0001c0001t0001g0097others(67): Show | 70 | 260 | 0.2692 | -5 | c.-21 others(24): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53151193 | TCCCTC | T | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0096a0001c0001t0003g0105others(8): Show | 11 | 238 | 0.0462 | -5 | c.-16 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53172378 | TTAAAA | T | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0048a0002c0002t0001g0049 | 2 | 238 | 0.0084 | -5 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53194899 | TAATAA | T | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 |
a0001a0006 | a0001c0005a0006c0009 | a0001c0005t0004a0006c0009t0004 | a0001c0005t0004g0097a0006c0009t0004g0107 | 2 | 238 | 0.0084 | -5 | c.145 others(26): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204023 | CAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0012 | a0001c0005t0004g0078a0001c0005t0004g0104a0001c0005t0004g0231others(7): Show | 10 | 238 | 0.0420 | -5 | c.145 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204045 | AAAAAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(38): Show |
a0002a0004a0007 | a0002c0002a0002c0019a0004c0006others(1): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0014others(3): Show | a0002c0002t0001g0009a0002c0002t0001g0010a0002c0002t0001g0012others(38): Show | 41 | 238 | 0.1723 | -5 | c.145 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHD9_chr16_53049991_53332497 | 53204047 | AAATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG02027.hp2 HG02129.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0017 | a0001c0003t0002g0015a0001c0003t0002g0028a0001c0003t0002g0033others(5): Show | 8 | 238 | 0.0336 | -5 | c.145 others(24): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 2/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53816840 | GTTTTT | G | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01081.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0094a0001c0001t0095a0002c0002t0005others(14): Show | a0001c0001t0094g0103a0001c0001t0095g0104a0002c0002t0005g0011others(36): Show | 40 | 392 | 0.1020 | -5 | c.*93 others(14): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 9/9 | 932 | chr3 | TogoVar | |||||
CHDH_chr3_53807335_53851419 | 53835323 | AAGCTC | A | intron_variant | MODIFIER | NA18939.hp2 NA18946.hp2 NA18984.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0002c0002t0003a0002c0002t0107others(1): Show | a0001c0001t0009g0106a0002c0002t0003g0004a0002c0002t0003g0279others(4): Show | 10 | 392 | 0.0255 | -5 | c.-60 others(22): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53850800 | CAAAAT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(143): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0198others(213): Show | 242 | 392 | 0.6174 | -5 | c.-48 others(16): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 4382 | chr3 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125658685 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02735.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0005a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0005g0008a0001c0001t0005g0045a0001c0001t0005g0050others(6): Show | 12 | 384 | 0.0313 | -5 | c.*33 others(16): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 1539 | chr11 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28729540 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0007others(3): Show | a0001c0001t0001a0001c0004t0001a0003c0007t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(204): Show | 208 | 384 | 0.5417 | -5 | c.320 others(22): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
CHEK2_chr22_28682743_28746820 | 28730316 | CAGAAG | C | intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 HG03540.hp2 |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0007c0010t0001 | a0001c0001t0001g0376a0001c0001t0001g0377a0007c0010t0001g0375 | 3 | 384 | 0.0078 | -5 | c.319 others(22): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 2/14 | chr22 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132845080 | TTAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(245): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(10): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0033others(86): Show | a0001c0001t0006g0126a0001c0001t0006g0132a0001c0001t0006g0134others(234): Show | 248 | 378 | 0.6561 | -5 | c.173 others(22): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 15/17 | chr12 | TogoVar | ||||||
CHGA_chr14_92918150_92940285 | 92935307 | CAACTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(46): Show |
a0003a0011a0014others(1): Show | a0003c0004a0011c0014a0014c0031others(1): Show | a0003c0004t0001a0011c0014t0001a0014c0031t0001others(1): Show | a0003c0004t0001g0005a0003c0004t0001g0014a0003c0004t0001g0041others(12): Show | 49 | 447 | 0.1096 | -5 | c.*42 others(14): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 23 | chr14 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5910014 | TAATAC | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0002others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(78): Show | 124 | 440 | 0.2818 | -5 | c.-16 others(16): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1495 | chr20 | TogoVar | ||||||
CHGB_chr20_5906510_5930353 | 5913608 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(86): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0016a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(29): Show | 89 | 440 | 0.2023 | -5 | c.49+ others(20): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHGB_chr20_5906510_5930353 | 5918810 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(83): Show |
a0002a0004a0008others(3): Show | a0002c0002a0004c0004a0008c0008others(3): Show | a0002c0002t0002a0002c0002t0003a0004c0004t0001others(4): Show | a0002c0002t0002g0002a0002c0002t0002g0019a0002c0002t0002g0022others(25): Show | 86 | 440 | 0.1955 | -5 | c.190 others(22): Show |
CHGB | ENSG00000089199.10 | transcript | ENST00000378961.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHI3L2_chr1_111222713_111248440 | 111229681 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(84): Show |
a0001a0007a0008 | a0001c0001a0001c0013a0007c0008others(1): Show | a0001c0001t0001a0001c0013t0001a0007c0008t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0017a0001c0001t0001g0019others(17): Show | 87 | 434 | 0.2005 | -5 | c.41- others(18): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHI3L2_chr1_111222713_111248440 | 111245803 | ATCCTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp2 others(124): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0006 | a0001c0001t0002a0001c0001t0003a0003c0005t0001others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0002g0014others(37): Show | 127 | 434 | 0.2926 | -5 | c.*25 others(16): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 2364 | chr1 | TogoVar | ||||||
CHI3L2_chr1_111222713_111248440 | 111245813 | TTCCTC | T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp1 HG02970.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0005a0004c0006t0005 | a0001c0001t0003g0016a0001c0001t0003g0096a0001c0001t0005g0044others(3): Show | 8 | 434 | 0.0184 | -5 | c.*26 others(16): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 2374 | chr1 | TogoVar | ||||||
CHIC1_chrX_73558197_73692111 | 73576415 | AACATT | A | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0080 | 2 | 208 | 0.0096 | -5 | c.297 others(20): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC1_chrX_73558197_73692111 | 73594142 | CTTTGT | C | intron_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0002g0078a0001c0001t0002g0103a0001c0001t0002g0172others(14): Show | 17 | 208 | 0.0817 | -5 | c.507 others(22): Show |
CHIC1 | ENSG00000204116.12 | transcript | ENST00000373502.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHIC2_chr4_54004789_54069605 | 54032643 | AATTAC | A | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0215a0001c0002t0001g0216a0001c0002t0001g0217others(1): Show | 4 | 244 | 0.0164 | -5 | c.330 others(24): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54039881 | TAAAAG | T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0020others(15): Show | 20 | 244 | 0.0820 | -5 | c.330 others(22): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 3/5 | chr4 | TogoVar | ||||||
CHIC2_chr4_54004789_54069605 | 54052976 | ATTATC | A | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0020others(15): Show | 20 | 244 | 0.0820 | -5 | c.120 others(22): Show |
CHIC2 | ENSG00000109220.11 | transcript | ENST00000263921.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
CHID1_chr11_862859_915810 | 902668 | AGGGTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(128): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(6): Show | a0001c0001t0001g0192a0001c0001t0001g0269a0001c0001t0001g0282others(112): Show | 131 | 386 | 0.3394 | -5 | c.261 others(20): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 3/12 | chr11 | TogoVar |