view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP5_chr2_124020287_124926219 | 124706893 | G | GGAAGAAG others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 64 | 0.0156 | 30 | c.207 others(51): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CNTNAP5_chr2_124020287_124926219 | 124707060 | G | GAGGAGGA others(23): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0017a0001c0002t0005 | a0001c0001t0005g0040a0001c0001t0017g0012a0001c0002t0005g0045 | 3 | 64 | 0.0469 | 30 | c.207 others(51): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644817 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 384 | 0.0026 | 30 | c.264 others(45): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 384 | 0.0026 | 30 | c.-38 others(49): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA1_chr7_43634257_43734523 | 43710375 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0373a0001c0001t0001g0376 | 2 | 384 | 0.0052 | 30 | c.-39 others(49): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COA6_chr1_234368456_234390080 | 234383064 | G | GAGGGAGG others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01358.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0118a0001c0001t0001g0121others(1): Show | 4 | 406 | 0.0099 | 30 | c.373 others(45): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164803582 | T | TAAATAAA others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18906.hp1 |
a0008 | a0008c0011 | a0008c0011t0025 | a0008c0011t0025g0011a0008c0011t0025g0012 | 2 | 212 | 0.0094 | 30 | c.41+ others(47): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805328 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 212 | 0.0047 | 30 | c.41+ others(47): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164805332 | T | TATATAAA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0046 | a0001c0002t0010g0017a0001c0002t0010g0018a0001c0002t0046g0016 | 3 | 212 | 0.0142 | 30 | c.41+ others(47): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51070392 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG03704.hp2 HG03710.hp1 NA19010.hp1 others(1): Show |
a0001a0003a0009 | a0001c0004a0003c0001a0009c0012 | a0001c0004t0001a0003c0001t0001a0009c0012t0001 | a0001c0004t0001g0197a0003c0001t0001g0203a0009c0012t0001g0194others(1): Show | 4 | 230 | 0.0174 | 30 | c.109 others(51): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18906.hp2 NA18945.hp1 others(1): Show |
a0003a0005a0012 | a0003c0001a0005c0006a0012c0024 | a0003c0001t0002a0005c0006t0003a0012c0024t0016 | a0003c0001t0002g0054a0005c0006t0003g0036a0005c0006t0003g0196others(1): Show | 4 | 230 | 0.0174 | 30 | c.958 others(49): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | |||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0394 | 1 | 478 | 0.0021 | 30 | c.629 others(47): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486339 | C | CGGGAGAG others(23): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01261.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0096a0001c0001t0001g0130 | 3 | 342 | 0.0088 | 30 | c.844 others(45): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45513185 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0148 | 1 | 342 | 0.0029 | 30 | c.180 others(49): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45513217 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0150 | 1 | 342 | 0.0029 | 30 | c.180 others(49): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 102878475 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0154 | 1 | 184 | 0.0054 | 30 | c.527 others(47): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208156 | C | CTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 206 | 0.0049 | 30 | c.-24 others(41): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2104 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208160 | C | CTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 206 | 0.0049 | 30 | c.-24 others(41): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2108 | chr6 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208164 | C | CTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0014 | a0014c0025 | a0014c0025t0001 | a0014c0025t0001g0069 | 1 | 206 | 0.0049 | 30 | c.-24 others(41): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2112 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69855778 | G | GGGGAGGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(82): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(22): Show | a0001c0001t0001g0011a0001c0001t0001g0029a0001c0001t0001g0040others(82): Show | 85 | 324 | 0.2624 | 30 | c.365 others(49): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69949931 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0098 | 1 | 324 | 0.0031 | 30 | c.205 others(49): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 38/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69949933 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0223a0001c0002t0001g0224 | 2 | 324 | 0.0062 | 30 | c.205 others(49): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 38/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69949967 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 NA18942.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0094a0001c0001t0002g0034a0001c0002t0002g0285others(3): Show | 6 | 324 | 0.0185 | 30 | c.205 others(49): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 38/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120138114 | C | CTCTATCA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0173a0001c0001t0002g0186 | 2 | 218 | 0.0092 | 30 | c.-37 others(47): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120166875 | A | AGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 218 | 0.0046 | 30 | c.350 others(47): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200048 | A | AGCATATA others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0010 | a0003c0010t0007 | a0003c0010t0007g0073 | 1 | 218 | 0.0046 | 30 | c.877 others(45): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL16A1_chr1_31647263_31709017 | 31707338 | C | CCTTTTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp2 HG01071.hp2 others(14): Show |
a0001a0003a0022 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0002g0142a0001c0001t0002g0241others(12): Show | 17 | 342 | 0.0497 | 30 | c.-35 others(41): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3322 | chr1 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45437463 | C | CACAGGCA others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 |
a0001a0029 | a0001c0013a0029c0071 | a0001c0013t0014a0029c0071t0002 | a0001c0013t0014g0210a0029c0071t0002g0134 | 2 | 292 | 0.0069 | 30 | c.107 others(49): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45490490 | C | CCTCCCGG others(23): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 292 | 0.0034 | 30 | c.203 others(47): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 20/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098026 | T | TATAAATA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0101a0001c0001t0001g0161a0001c0001t0001g0162others(4): Show | 7 | 264 | 0.0265 | 30 | c.181 others(49): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 1 | 264 | 0.0038 | 30 | c.143 others(49): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636480 | A | AGAAAGGA others(23): Show |
intron_variant | MODIFIER | HG03492.hp2 NA19060.hp1 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0003a0002c0009t0015 | a0002c0005t0003g0007a0002c0009t0015g0146 | 2 | 158 | 0.0127 | 30 | c.355 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG02717.hp2 others(6): Show |
a0001a0002a0006 | a0001c0010a0001c0012a0001c0017others(4): Show | a0001c0010t0001a0001c0012t0001a0001c0017t0005others(5): Show | a0001c0010t0001g0027a0001c0012t0001g0037a0001c0017t0005g0152others(6): Show | 9 | 158 | 0.0570 | 30 | c.355 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp1 HG01261.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0003others(2): Show | a0001c0001t0001g0050a0001c0002t0003g0009a0002c0003t0003g0001others(3): Show | 6 | 158 | 0.0380 | 30 | c.355 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258236 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0066 | 1 | 236 | 0.0042 | 30 | c.730 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0045 | 1 | 236 | 0.0042 | 30 | c.730 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178448110 | A | ACAGTCCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0001 | a0001c0001t0004g0021a0001c0004t0001g0094 | 2 | 236 | 0.0085 | 30 | c.361 others(51): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178448120 | T | TTGTTCTG others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01433.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0004t0005others(6): Show | a0001c0001t0004g0035a0001c0001t0004g0039a0001c0001t0005g0072others(8): Show | 11 | 236 | 0.0466 | 30 | c.361 others(51): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178548012 | C | CACACACC others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0146 | 1 | 236 | 0.0042 | 30 | c.361 others(49): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178556625 | T | TTAAAATA others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 NA18973.hp2 others(1): Show |
a0001a0003a0012 | a0001c0001a0003c0005a0003c0007others(1): Show | a0001c0001t0003a0003c0005t0002a0003c0007t0001others(1): Show | a0001c0001t0003g0073a0003c0005t0002g0163a0003c0007t0001g0013others(1): Show | 4 | 236 | 0.0170 | 30 | c.361 others(47): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85906264 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 |
a0001a0009 | a0001c0005a0009c0044 | a0001c0005t0003a0009c0044t0011 | a0001c0005t0003g0218a0009c0044t0011g0110 | 2 | 238 | 0.0084 | 30 | c.277 others(47): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 28/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85997055 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18951.hp2 |
a0001a0008 | a0001c0001a0008c0006 | a0001c0001t0003a0008c0006t0001 | a0001c0001t0003g0157a0008c0006t0001g0050 | 2 | 238 | 0.0084 | 30 | c.231 others(49): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108835861 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 130 | 0.0077 | 30 | c.165 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 31/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108961568 | C | CCTGTTCT others(23): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG02896.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0010a0001c0003t0023 | a0001c0002t0003g0010a0001c0002t0010g0030a0001c0003t0023g0127 | 3 | 130 | 0.0231 | 30 | c.492 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109096499 | C | CAGGCTAT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01175.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0059a0001c0001t0002g0056a0001c0001t0002g0058others(21): Show | 24 | 130 | 0.1846 | 30 | c.368 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109250369 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 130 | 0.0077 | 30 | c.367 others(49): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385367 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01515.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0002c0003t0001 | a0001c0001t0014g0142a0002c0003t0001g0140 | 2 | 174 | 0.0115 | 30 | c.158 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101494127 | C | CGTTTTAT others(23): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03139.hp1 HG03492.hp1 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0006a0002c0004t0001a0002c0004t0024 | a0001c0002t0006g0041a0002c0004t0001g0129a0002c0004t0024g0095 | 3 | 174 | 0.0172 | 30 | c.386 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101494127 | C | CGTTTTGT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 NA20300.hp1 |
a0001a0003 | a0001c0001a0003c0018 | a0001c0001t0011a0003c0018t0019 | a0001c0001t0011g0108a0003c0018t0019g0005 | 2 | 174 | 0.0115 | 30 | c.386 others(49): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7374038 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0034 | a0034c0040 | a0034c0040t0002 | a0034c0040t0002g0040 | 1 | 196 | 0.0051 | 30 | c.236 others(47): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 31/34 | chr7 | TogoVar |