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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL1A2_chr7_94389895_94436227 | 94393484 | A | ACGCACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02486.hp1 HG02683.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0043a0001c0001t0002g0127a0001c0002t0001g0001others(9): Show | 17 | 438 | 0.0388 | 8 | c.-15 others(19): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1410 | chr7 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94396314 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01943.hp1 HG01975.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0062a0001c0003t0001g0232a0001c0003t0002g0008others(3): Show | 13 | 438 | 0.0297 | 8 | c.70+ others(23): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56053862 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 HG01106.hp1 HG01106.hp2 others(12): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0002a0001c0022others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0256a0001c0001t0003g0029others(12): Show | 15 | 264 | 0.0568 | 8 | c.*37 others(19): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56097858 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02647.hp2 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0131a0001c0001t0003g0029a0001c0001t0003g0081others(3): Show | 6 | 264 | 0.0227 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098532 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01074.hp2 others(20): Show |
a0001a0012 | a0001c0001a0012c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0142others(20): Show | 23 | 264 | 0.0871 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098628 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03225.hp2 |
a0004 | a0004c0004 | a0004c0004t0002a0004c0004t0004 | a0004c0004t0002g0103a0004c0004t0002g0106a0004c0004t0004g0026 | 3 | 264 | 0.0114 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098646 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0131a0001c0001t0003g0081a0001c0001t0006g0019 | 3 | 264 | 0.0114 | 8 | c.181 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56129675 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0011 | a0001c0001t0005g0154a0001c0001t0008g0036a0001c0001t0008g0041others(3): Show | 6 | 264 | 0.0227 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56129699 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01346.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0145a0001c0001t0001g0223a0001c0001t0001g0224others(5): Show | 8 | 264 | 0.0303 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56129699 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
a0001a0003a0009others(2): Show | a0001c0001a0001c0015a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0101a0001c0001t0001g0110others(78): Show | 82 | 264 | 0.3106 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56130165 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01928.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0005a0001c0001t0009a0001c0001t0018others(5): Show | a0001c0001t0005g0258a0001c0001t0009g0034a0001c0001t0009g0039others(12): Show | 15 | 264 | 0.0568 | 8 | c.154 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148338 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01071.hp1 others(19): Show |
a0001a0006a0008others(1): Show | a0001c0001a0001c0002a0006c0011others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0002others(4): Show | a0001c0001t0001g0132a0001c0001t0001g0259a0001c0001t0001g0260others(19): Show | 22 | 264 | 0.0833 | 8 | c.143 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56150514 | T | TCTCACAC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03540.hp2 HG04228.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0007t0002others(2): Show | a0001c0001t0001g0107a0001c0001t0012g0002a0001c0007t0002g0261others(2): Show | 5 | 264 | 0.0189 | 8 | c.143 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56165915 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02451.hp2 HG02559.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0107a0001c0001t0001g0179a0001c0001t0003g0043others(6): Show | 9 | 264 | 0.0341 | 8 | c.127 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 7/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206693 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02698.hp1 NA18945.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0019 | a0001c0002t0002g0168a0001c0002t0002g0169a0001c0002t0019g0094 | 3 | 264 | 0.0114 | 8 | c.-38 others(27): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643609 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02145.hp2 others(11): Show |
a0001a0002a0004 | a0001c0006a0001c0008a0001c0046others(4): Show | a0001c0006t0002a0001c0008t0001a0001c0008t0002others(8): Show | a0001c0006t0002g0032a0001c0008t0001g0041a0001c0008t0002g0096others(11): Show | 14 | 158 | 0.0886 | 8 | c.350 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0116others(24): Show | 27 | 158 | 0.1709 | 8 | c.350 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643651 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01943.hp2 HG02970.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0014a0001c0015a0001c0044others(4): Show | a0001c0014t0004a0001c0015t0001a0001c0044t0002others(6): Show | a0001c0014t0004g0018a0001c0015t0001g0068a0001c0044t0002g0065others(8): Show | 11 | 158 | 0.0696 | 8 | c.350 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138652735 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00741.hp2 others(19): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0014others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0001g0053a0001c0001t0001g0116a0001c0001t0001g0121others(19): Show | 22 | 158 | 0.1392 | 8 | c.333 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138660787 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02559.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0001c0008others(14): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0002others(18): Show | a0001c0002t0001g0100a0001c0006t0001g0113a0001c0008t0002g0093others(20): Show | 23 | 158 | 0.1456 | 8 | c.324 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664194 | T | TGCGCGCG others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01981.hp1 others(5): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0002c0029others(4): Show | a0001c0001t0001a0002c0003t0003a0002c0029t0002others(4): Show | a0001c0001t0001g0116a0001c0001t0001g0123a0002c0003t0003g0001others(5): Show | 8 | 158 | 0.0506 | 8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676413 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001a0002a0004 | a0001c0008a0002c0004a0002c0005others(2): Show | a0001c0008t0002a0002c0004t0008a0002c0005t0009others(2): Show | a0001c0008t0002g0133a0002c0004t0008g0023a0002c0004t0008g0099others(3): Show | 6 | 158 | 0.0380 | 8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138710606 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00597.hp2 others(107): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0006others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(69): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(107): Show | 110 | 158 | 0.6962 | 8 | c.251 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 30/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138726498 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02809.hp1 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0002a0001c0008a0001c0014others(6): Show | a0001c0002t0001a0001c0008t0001a0001c0008t0002others(7): Show | a0001c0002t0001g0049a0001c0008t0001g0041a0001c0008t0002g0096others(7): Show | 10 | 158 | 0.0633 | 8 | c.214 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138744481 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03139.hp1 HG03209.hp1 |
a0001 | a0001c0012a0001c0016a0001c0056 | a0001c0012t0005a0001c0016t0001a0001c0056t0004 | a0001c0012t0005g0143a0001c0016t0001g0132a0001c0056t0004g0039 | 3 | 158 | 0.0190 | 8 | c.208 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 22/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138795528 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG02258.hp1 others(2): Show |
a0001a0004a0016 | a0001c0001a0004c0019a0004c0040others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0019t0014others(2): Show | a0001c0001t0001g0101a0001c0001t0002g0017a0004c0019t0014g0154others(2): Show | 5 | 158 | 0.0317 | 8 | c.159 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 12/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138805496 | T | TGTGTGAT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp2 HG02622.hp2 others(6): Show |
a0001a0002 | a0001c0012a0001c0017a0001c0026others(4): Show | a0001c0012t0001a0001c0012t0002a0001c0017t0007others(5): Show | a0001c0012t0001g0037a0001c0012t0002g0059a0001c0017t0007g0147others(6): Show | 9 | 158 | 0.0570 | 8 | c.149 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138845516 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG02280.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0006a0001c0008others(13): Show | a0001c0001t0001a0001c0006t0002a0001c0008t0002others(14): Show | a0001c0001t0001g0101a0001c0006t0002g0032a0001c0008t0002g0093others(15): Show | 18 | 158 | 0.1139 | 8 | c.659 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 3/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902737 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG02055.hp1 HG04228.hp2 others(1): Show |
a0001a0002a0005 | a0001c0012a0001c0015a0002c0003others(1): Show | a0001c0012t0002a0001c0015t0001a0002c0003t0001others(1): Show | a0001c0012t0002g0059a0001c0015t0001g0077a0002c0003t0001g0076others(1): Show | 4 | 158 | 0.0253 | 8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902739 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG03710.hp2 NA20129.hp2 |
a0002a0003 | a0002c0004a0003c0033 | a0002c0004t0001a0003c0033t0002 | a0002c0004t0001g0127a0003c0033t0002g0015 | 2 | 158 | 0.0127 | 8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACACTC others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02451.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0004c0006t0003 | a0001c0001t0003g0214a0004c0006t0003g0139a0004c0006t0003g0143others(1): Show | 4 | 236 | 0.0170 | 8 | c.105 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178249716 | A | ACACTCTC others(1): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19002.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0005 | a0001c0001t0004g0054a0001c0001t0004g0201a0002c0003t0005g0068 | 3 | 236 | 0.0127 | 8 | c.105 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 18/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178258262 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02896.hp2 HG03491.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0077a0002c0002t0001g0104a0002c0003t0001g0129 | 3 | 236 | 0.0127 | 8 | c.730 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 12/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178261006 | A | ATCTGTAG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(71): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0021others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002a0001c0001t0003g0123a0001c0001t0003g0170others(71): Show | 74 | 236 | 0.3136 | 8 | c.702 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 11/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269287 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0004t0004others(4): Show | a0001c0001t0004g0011a0001c0001t0004g0087a0001c0001t0005g0072others(5): Show | 8 | 236 | 0.0339 | 8 | c.469 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269426 | T | TCCACCCA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01167.hp2 others(20): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0199a0001c0001t0002g0058others(20): Show | 23 | 236 | 0.0975 | 8 | c.469 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269591 | A | AATCCATC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01106.hp1 others(76): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0021others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0028a0001c0001t0002g0056a0001c0001t0002g0083others(76): Show | 79 | 236 | 0.3348 | 8 | c.468 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269795 | G | GCATCCAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(109): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0002a0001c0001t0001g0076a0001c0001t0001g0199others(109): Show | 112 | 236 | 0.4746 | 8 | c.468 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178269808 | C | CATCCATC others(1): Show |
intron_variant | MODIFIER | NA18990.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078a0001c0001t0005g0222 | 2 | 236 | 0.0085 | 8 | c.468 others(23): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 6/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178300721 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01070.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0002g0056a0001c0001t0002g0083a0001c0001t0002g0153others(49): Show | 52 | 236 | 0.2203 | 8 | c.406 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178311503 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0009a0003c0005 | a0001c0001t0003a0002c0009t0006a0003c0005t0002 | a0001c0001t0003g0006a0002c0009t0006g0232a0003c0005t0002g0168others(1): Show | 4 | 236 | 0.0170 | 8 | c.362 others(25): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178319887 | C | CCGCCCTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(77): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0002a0001c0001t0002g0028a0001c0001t0002g0056others(77): Show | 80 | 236 | 0.3390 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358020 | G | GTATGCGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0013 | a0002c0003t0005g0092a0002c0003t0013g0114 | 2 | 236 | 0.0085 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178358719 | A | ATGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG01517.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0004a0001c0004t0002a0001c0004t0005others(4): Show | a0001c0001t0004g0081a0001c0001t0004g0084a0001c0001t0004g0174others(8): Show | 11 | 236 | 0.0466 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178365136 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00621.hp1 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0002g0055a0001c0001t0002g0150others(27): Show | 30 | 236 | 0.1271 | 8 | c.362 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178487287 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG03130.hp1 HG03516.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0004g0201a0001c0001t0005g0009a0001c0001t0007g0008others(3): Show | 6 | 236 | 0.0254 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178487288 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01928.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0005a0002c0002t0001a0002c0003t0004others(1): Show | a0001c0001t0005g0107a0002c0002t0001g0001a0002c0003t0004g0099others(2): Show | 5 | 236 | 0.0212 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178487288 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01261.hp1 HG02145.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0004a0002c0002t0001a0002c0003t0002others(6): Show | a0001c0001t0004g0203a0002c0002t0001g0075a0002c0002t0001g0191others(8): Show | 11 | 236 | 0.0466 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498255 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02965.hp2 NA19060.hp2 |
a0002a0003 | a0002c0002a0002c0003a0003c0005 | a0002c0002t0001a0002c0003t0002a0003c0005t0003 | a0002c0002t0001g0191a0002c0003t0002g0211a0003c0005t0003g0125 | 3 | 236 | 0.0127 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178523157 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18971.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0002 | a0001c0001t0004g0011a0002c0003t0002g0206 | 2 | 236 | 0.0085 | 8 | c.361 others(27): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar |