| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CKAP5_chr11_46738048_46851280 | 46802557 | G | GACAGAC | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012a0001c0001t0003g0013a0001c0001t0003g0015 | 3 | 294 | 0.0102 | 6 | c.979 others(23): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 8/43 | chr11 | TogoVar | ||||||
| CKLF_chr16_66547576_66571068 | 66551189 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01433.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0048 | 7 | 392 | 0.0179 | 6 | c.-15 others(17): Show |
CKLF | ENSG00000217555.13 | transcript | ENST00000264001.9 | protein_coding | 1386 | chr16 | TogoVar | ||||||
| CKLF_chr16_66547576_66571068 | 66560798 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG02717.hp2 HG02896.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0030a0001c0001t0001g0033others(5): Show | 15 | 392 | 0.0383 | 6 | c.238 others(23): Show |
CKLF | ENSG00000217555.13 | transcript | ENST00000264001.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CKMT1A_chr15_43688859_43704222 | 43692102 | C | CTTAATG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0010others(8): Show | 94 | 392 | 0.2398 | 6 | c.-19 others(17): Show |
CKMT1A | ENSG00000223572.10 | transcript | ENST00000413453.7 | protein_coding | 1756 | chr15 | TogoVar | ||||||
| CKMT1A_chr15_43688859_43704222 | 43698531 | G | GAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG02109.hp2 HG04228.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0004 | a0001c0003t0001g0013a0001c0003t0002g0013a0001c0003t0002g0032others(1): Show | 4 | 392 | 0.0102 | 6 | c.101 others(23): Show |
CKMT1A | ENSG00000223572.10 | transcript | ENST00000413453.7 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
| CKMT2_chr5_81228322_81271398 | 81250940 | A | AACACAC | intron_variant | MODIFIER | HG01978.hp1 HG02258.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0093a0001c0001t0001g0163a0001c0001t0003g0208others(1): Show | 4 | 356 | 0.0112 | 6 | c.-20 others(21): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CKMT2_chr5_81228322_81271398 | 81257141 | A | AGTGTGT | intron_variant | MODIFIER | HG02523.hp2 HG03225.hp1 HG03471.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0054others(3): Show | 6 | 356 | 0.0169 | 6 | c.755 others(21): Show |
CKMT2 | ENSG00000131730.16 | transcript | ENST00000254035.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CKM_chr19_45301413_45327875 | 45301557 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp1 others(27): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0009 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0008a0001c0002t0001g0024a0001c0002t0001g0161others(23): Show | 30 | 392 | 0.0765 | 6 | c.*51 others(17): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 4855 | chr19 | TogoVar | ||||||
| CKM_chr19_45301413_45327875 | 45320890 | C | CTATTAT | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(8): Show | a0001c0001t0001g0079a0001c0001t0001g0080a0001c0001t0001g0082others(67): Show | 77 | 392 | 0.1964 | 6 | c.-18 others(23): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| CKM_chr19_45301413_45327875 | 45320895 | A | ATTATTT | intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0002t0001a0001c0014t0001 | a0001c0001t0001g0332a0001c0002t0001g0138a0001c0002t0001g0329others(3): Show | 6 | 392 | 0.0153 | 6 | c.-18 others(23): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121339131 | C | CCACACA | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01891.hp2 HG01943.hp2 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0064a0001c0001t0067a0001c0001t0068others(7): Show | a0001c0001t0064g0007a0001c0001t0067g0018a0001c0001t0068g0062others(13): Show | 16 | 214 | 0.0748 | 6 | c.*17 others(17): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 41/41 | 1729 | chr2 | TogoVar | |||||
| CLASP1_chr2_121332776_121654462 | 121383991 | G | GATATAT | intron_variant | MODIFIER | HG02027.hp1 HG02040.hp2 NA18999.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034 | a0001c0001t0002g0105a0001c0001t0002g0106a0001c0001t0002g0126others(1): Show | 4 | 214 | 0.0187 | 6 | c.343 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 33/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121384007 | T | TATACAC | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034a0001c0001t0035others(1): Show | a0001c0001t0002g0111a0001c0001t0034g0118a0001c0001t0035g0102others(1): Show | 4 | 214 | 0.0187 | 6 | c.343 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 33/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121384007 | T | TATATAC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0035others(3): Show | a0001c0001t0002g0101a0001c0001t0002g0107a0001c0001t0002g0109others(15): Show | 18 | 214 | 0.0841 | 6 | c.343 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 33/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121457454 | G | GACACAC | intron_variant | MODIFIER | NA18964.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0082 | a0001c0001t0002g0110a0001c0001t0082g0108 | 2 | 214 | 0.0094 | 6 | c.138 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 14/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121457458 | T | TACACAC | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0017a0001c0002t0029others(2): Show | a0001c0002t0010g0203a0001c0002t0017g0202a0001c0002t0017g0204others(4): Show | 7 | 214 | 0.0327 | 6 | c.138 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 14/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121517858 | C | CTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0044a0001c0002t0014a0001c0002t0030others(3): Show | a0001c0001t0044g0005a0001c0002t0014g0023a0001c0002t0030g0140others(3): Show | 6 | 214 | 0.0280 | 6 | c.547 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 6/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121536378 | G | GAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0011 | a0001c0002t0008g0195a0001c0002t0008g0196a0001c0002t0008g0197others(4): Show | 7 | 214 | 0.0327 | 6 | c.196 others(23): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121559879 | T | TATCATC | intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 HG03195.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0032a0002c0003t0033 | a0002c0003t0032g0141a0002c0003t0032g0208a0002c0003t0033g0170others(1): Show | 4 | 214 | 0.0187 | 6 | c.196 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121581260 | C | CTTTTTT | intron_variant | MODIFIER | HG02886.hp2 HG03130.hp1 HG03471.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0021a0001c0002t0030 | a0001c0002t0008g0195a0001c0002t0008g0196a0001c0002t0008g0197others(4): Show | 7 | 214 | 0.0327 | 6 | c.195 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 2/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121611441 | A | AGGAGTT | intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0032a0002c0003t0033 | a0002c0003t0032g0208a0002c0003t0033g0170a0002c0003t0033g0171 | 3 | 214 | 0.0140 | 6 | c.-28 others(25): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121630164 | C | CCCGCCT | intron_variant | MODIFIER | HG02896.hp1 HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0071 | a0001c0001t0027g0098a0001c0001t0027g0099a0001c0001t0071g0100 | 3 | 214 | 0.0140 | 6 | c.-28 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121630381 | A | AACACAC | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0001c0002t0006a0001c0002t0009others(8): Show | a0001c0002t0005g0147a0001c0002t0005g0193a0001c0002t0006g0163others(18): Show | 21 | 214 | 0.0981 | 6 | c.-28 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121633007 | C | CATATAT | intron_variant | MODIFIER | HG02257.hp1 HG02896.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027a0001c0001t0044 | a0001c0001t0002g0127a0001c0001t0027g0098a0001c0001t0027g0099others(1): Show | 4 | 214 | 0.0187 | 6 | c.-28 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121636338 | A | AAATAAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(47): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0027a0001c0001t0035others(25): Show | a0001c0001t0002g0101a0001c0001t0002g0105a0001c0001t0002g0106others(47): Show | 50 | 214 | 0.2336 | 6 | c.-28 others(27): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 1/40 | chr2 | TogoVar | ||||||
| CLASP1_chr2_121332776_121654462 | 121652897 | G | GTGAAAA | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0074a0001c0002t0014a0001c0002t0061 | a0001c0001t0074g0024a0001c0002t0014g0020a0001c0002t0014g0021others(3): Show | 6 | 214 | 0.0280 | 6 | c.-38 others(17): Show |
CLASP1 | ENSG00000074054.21 | transcript | ENST00000696935.1 | protein_coding | 3436 | chr2 | TogoVar | ||||||
| CLASP2_chr3_33491245_33723254 | 33505227 | A | AAACAAC | intron_variant | MODIFIER | HG00099.hp2 HG01243.hp1 HG01256.hp1 others(23): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0105a0001c0001t0001g0132others(23): Show | 26 | 278 | 0.0935 | 6 | c.431 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 37/38 | chr3 | TogoVar | ||||||
| CLASP2_chr3_33491245_33723254 | 33522336 | C | CTTTAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(273): Show | 276 | 278 | 0.9928 | 6 | c.378 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 34/38 | chr3 | TogoVar | ||||||
| CLASP2_chr3_33491245_33723254 | 33531775 | C | CAAAACA | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02647.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016a0001c0001t0004g0135a0001c0001t0004g0165others(8): Show | 11 | 278 | 0.0396 | 6 | c.378 others(25): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 34/38 | chr3 | TogoVar | ||||||
| CLASP2_chr3_33491245_33723254 | 33685342 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00609.hp2 others(29): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0110a0001c0001t0002g0008a0001c0001t0002g0018others(29): Show | 32 | 278 | 0.1151 | 6 | c.547 others(21): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 5/38 | chr3 | TogoVar | ||||||
| CLASP2_chr3_33491245_33723254 | 33695220 | A | ATTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(88): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0072others(88): Show | 91 | 278 | 0.3273 | 6 | c.274 others(23): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 2/38 | chr3 | TogoVar | ||||||
| CLASRP_chr19_45034045_45075956 | 45043195 | T | TTGTGTG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0012others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0012t0001others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(60): Show | 66 | 364 | 0.1813 | 6 | c.99+ others(21): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CLCA1_chr1_86463927_86505259 | 86486017 | G | GGAGAGA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0014a0001c0001t0001g0025others(101): Show | 146 | 440 | 0.3318 | 6 | c.954 others(21): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CLCA1_chr1_86463927_86505259 | 86487354 | T | TAATGCC | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02572.hp1 others(2): Show |
a0001a0019 | a0001c0002a0019c0031 | a0001c0002t0001a0019c0031t0001 | a0001c0002t0001g0063a0001c0002t0001g0064a0001c0002t0001g0065others(2): Show | 5 | 440 | 0.0114 | 6 | c.118 others(23): Show |
CLCA1 | ENSG00000016490.16 | transcript | ENST00000394711.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CLCA2_chr1_86419171_86461553 | 86427547 | T | TACACAC | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01168.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0021 | a0001c0001t0002a0001c0001t0005a0002c0003t0001others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0091a0001c0001t0005g0089others(6): Show | 19 | 414 | 0.0459 | 6 | c.325 others(21): Show |
CLCA2 | ENSG00000137975.8 | transcript | ENST00000370565.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CLCA2_chr1_86419171_86461553 | 86444879 | T | TTTGTTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(135): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0038a0001c0001t0001g0214a0001c0001t0002g0004others(69): Show | 138 | 414 | 0.3333 | 6 | c.171 others(23): Show |
CLCA2 | ENSG00000137975.8 | transcript | ENST00000370565.5 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CLCA4_chr1_86542078_86585754 | 86580219 | A | ACCTACT | conservative_inframe_insertion | MODERATE | HG01081.hp1 HG01257.hp2 HG02683.hp1 others(1): Show |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0016a0006c0007t0001g0064 | 4 | 334 | 0.0120 | 6 | c.265 others(15): Show |
p.Thr others(13): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 14/14 | 2704/3211 | 2662/2760 | 888/919 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CLCA4_chr1_86542078_86585754 | 86585736 | T | TCACACA | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01891.hp2 |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0101a0001c0008t0001g0116a0001c0008t0001g0174 | 3 | 334 | 0.0090 | 6 | c.*53 others(17): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 4983 | chr1 | TogoVar | ||||||
| CLCA4_chr1_86542078_86585754 | 86585738 | T | TCACACA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG01243.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0016 | a0001c0001t0001a0005c0016t0001 | a0001c0001t0001g0014a0001c0001t0001g0188a0005c0016t0001g0023 | 6 | 334 | 0.0180 | 6 | c.*53 others(17): Show |
CLCA4 | ENSG00000016602.9 | transcript | ENST00000370563.3 | protein_coding | 4985 | chr1 | TogoVar | ||||||
| CLCC1_chr1_108924505_108968484 | 108954817 | C | CGTGTGT | intron_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG01515.hp2 others(9): Show |
a0001a0002 | a0001c0012a0002c0003a0002c0004 | a0001c0012t0001a0002c0003t0008a0002c0003t0009others(4): Show | a0001c0012t0001g0180a0002c0003t0008g0237a0002c0003t0008g0238others(7): Show | 12 | 394 | 0.0305 | 6 | c.-11 others(23): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| CLCC1_chr1_108924505_108968484 | 108961284 | T | TAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02630.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003a0002c0003t0004others(1): Show | a0001c0001t0001g0203a0001c0001t0001g0210a0002c0003t0003g0016others(8): Show | 13 | 394 | 0.0330 | 6 | c.-12 others(23): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| CLCC1_chr1_108924505_108968484 | 108966767 | A | AACACAC | upstream_gene_variant | MODIFIER | NA18947.hp2 NA18974.hp1 NA18974.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0146a0001c0002t0002g0002a0001c0002t0002g0153others(1): Show | 4 | 394 | 0.0102 | 6 | c.-35 others(17): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 3284 | chr1 | TogoVar | ||||||
| CLCF1_chr11_67359168_67378598 | 67372616 | C | CGGCGGG | intron_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02055.hp1 others(24): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0030others(6): Show | 27 | 308 | 0.0877 | 6 | c.16+ others(19): Show |
CLCF1 | ENSG00000175505.11 | transcript | ENST00000312438.8 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
| CLCN1_chr7_143311111_143357083 | 143320553 | T | TTCTCTC | intron_variant | MODIFIER | HG02976.hp2 HG03130.hp1 HG03195.hp2 others(2): Show |
a0001a0013a0014 | a0001c0001a0001c0004a0013c0024others(1): Show | a0001c0001t0001a0001c0004t0001a0013c0024t0001others(1): Show | a0001c0001t0001g0112a0001c0001t0001g0379a0001c0004t0001g0045others(2): Show | 5 | 414 | 0.0121 | 6 | c.302 others(19): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CLCN1_chr7_143311111_143357083 | 143326008 | T | TTTTTTG | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0006a0001c0029others(5): Show | a0001c0001t0001a0001c0006t0001a0001c0029t0001others(5): Show | a0001c0001t0001g0120a0001c0001t0001g0379a0001c0006t0001g0385others(6): Show | 9 | 414 | 0.0217 | 6 | c.853 others(23): Show |
CLCN1 | ENSG00000188037.14 | transcript | ENST00000343257.7 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CLCN3_chr4_169615578_169728673 | 169720526 | T | TTCTCTC | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG03540.hp1 NA18906.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0012a0002c0005t0012 | a0001c0001t0012g0259a0001c0001t0012g0262a0001c0001t0012g0264others(1): Show | 4 | 288 | 0.0139 | 6 | c.*55 others(15): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 13/13 | 563 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
| CLCN3_chr4_169615578_169728673 | 169726257 | C | CATATAT | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02572.hp1 HG02615.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0015others(2): Show | a0001c0001t0005g0244a0001c0001t0005g0254a0001c0001t0005g0255others(9): Show | 13 | 288 | 0.0451 | 6 | c.*62 others(17): Show |
CLCN3 | ENSG00000109572.16 | transcript | ENST00000513761.6 | protein_coding | 2585 | chr4 | TogoVar | ||||||
| CLCN4_chrX_10151975_10242660 | 10152051 | C | CATCCGT | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 264 | 0.0038 | 6 | c.-53 others(17): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 4923 | chrX | TogoVar | ||||||
| CLCN4_chrX_10151975_10242660 | 10161124 | G | GCTCTCT | intron_variant | MODIFIER | HG01346.hp2 HG02027.hp1 HG02074.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0230a0001c0001t0001g0232a0001c0001t0001g0233others(7): Show | 10 | 264 | 0.0379 | 6 | c.-12 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CLCN4_chrX_10151975_10242660 | 10180767 | C | CAAAAAA | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 264 | 0.0038 | 6 | c.-11 others(23): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar |