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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COA3_chr17_42792625_42803704 | 42801507 | AAAAATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 310 | 0.0032 | -13 | c.-28 others(24): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2804 | chr17 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801511 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG06807.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0004g0004 | 6 | 310 | 0.0194 | -13 | c.-28 others(24): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2808 | chr17 | TogoVar | ||||||
COA3_chr17_42792625_42803704 | 42801531 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 310 | 0.0032 | -13 | c.-28 others(24): Show |
COA3 | ENSG00000183978.8 | transcript | ENST00000328434.8 | protein_coding | 2828 | chr17 | TogoVar | ||||||
COA4_chr11_73867667_73881846 | 73880687 | GAAAAAAA others(6): Show |
G | upstream_gene_variant | MODIFIER | NA18953.hp2 NA18961.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0005a0001c0001t0001g0049a0001c0001t0007g0051 | 4 | 394 | 0.0102 | -13 | c.-39 others(24): Show |
COA4 | ENSG00000181924.7 | transcript | ENST00000355693.5 | protein_coding | 3842 | chr11 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234370412 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 2 | 406 | 0.0049 | -13 | c.-30 others(24): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 3043 | chr1 | TogoVar | ||||||
COA6_chr1_234368456_234390080 | 234377059 | CGAGAGAG others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0026a0001c0001t0001g0029others(41): Show | 136 | 406 | 0.3350 | -13 | c.372 others(30): Show |
COA6 | ENSG00000168275.16 | transcript | ENST00000366615.10 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164677386 | ACCAGCAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02055.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0034 | a0001c0001t0033g0052a0001c0002t0034g0034 | 2 | 212 | 0.0094 | -13 | c.*85 others(24): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2801 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51018906 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02258.hp2 others(5): Show |
a0001a0006a0015 | a0001c0004a0001c0015a0006c0008others(2): Show | a0001c0004t0001a0001c0015t0001a0006c0008t0004others(2): Show | a0001c0004t0001g0183a0001c0015t0001g0169a0006c0008t0004g0102others(5): Show | 8 | 230 | 0.0348 | -13 | c.376 others(32): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51036336 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(42): Show |
a0001a0003a0008others(9): Show | a0001c0004a0003c0001a0003c0011others(11): Show | a0001c0004t0001a0003c0001t0001a0003c0001t0002others(16): Show | a0001c0004t0001g0119a0001c0004t0001g0193a0001c0004t0001g0195others(42): Show | 45 | 230 | 0.1957 | -13 | c.140 others(32): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 8/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51264672 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02258.hp2 others(11): Show |
a0001a0003a0006others(3): Show | a0001c0004a0003c0001a0003c0040others(4): Show | a0001c0004t0006a0003c0001t0005a0003c0040t0002others(5): Show | a0001c0004t0006g0081a0001c0004t0006g0109a0003c0001t0005g0099others(11): Show | 14 | 230 | 0.0609 | -13 | c.42- others(30): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30890191 | AGAGAAAC others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0286 | 1 | 478 | 0.0021 | -13 | c.*40 others(22): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 12/12 | 403 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||
COG3_chr13_45459939_45541701 | 45486332 | CGGGAGAC others(6): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02895.hp2 others(2): Show |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0195a0003c0006t0004g0196a0003c0006t0004g0197others(2): Show | 5 | 342 | 0.0146 | -13 | c.844 others(28): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45508068 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0005 | a0002c0005t0012 | a0002c0005t0012g0148 | 1 | 342 | 0.0029 | -13 | c.159 others(32): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45526076 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0005 | a0002c0005t0014 | a0002c0005t0014g0206 | 1 | 342 | 0.0029 | -13 | c.223 others(32): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45532560 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(94): Show |
a0001a0006a0007 | a0001c0002a0001c0011a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0009others(4): Show | a0001c0002t0001g0008a0001c0002t0001g0009a0001c0002t0001g0203others(92): Show | 97 | 342 | 0.2836 | -13 | c.245 others(32): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70500365 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 354 | 0.0028 | -13 | c.119 others(30): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 9/18 | chr16 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70528464 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 354 | 0.0028 | -13 | c.-49 others(24): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 4911 | chr16 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75080592 | GCAGTAGG others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0034 | 1 | 206 | 0.0049 | -13 | c.*59 others(24): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 3733 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69804809 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0073a0001c0001t0001g0080a0001c0001t0001g0083others(73): Show | 76 | 324 | 0.2346 | -13 | c.294 others(30): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69936165 | GAAGGAAG others(6): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00639.hp1 others(75): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0031others(75): Show | 78 | 324 | 0.2407 | -13 | c.177 others(30): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31654971 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02523.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0002 | a0001c0003t0002g0228a0002c0002t0002g0053 | 2 | 342 | 0.0059 | -13 | c.429 others(30): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 67/70 | chr1 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104034388 | ACTTGGGA others(6): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0263 | 1 | 336 | 0.0030 | -13 | c.376 others(28): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 51/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104089512 | GTCCTATA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0112 | 1 | 336 | 0.0030 | -13 | c.-38 others(24): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 3633 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45476982 | TGGCTCTG others(6): Show |
T | intron_variant | MODIFIER | NA18964.hp2 NA18969.hp1 NA18975.hp1 others(2): Show |
a0003 | a0003c0009a0003c0015a0003c0045 | a0003c0009t0001a0003c0015t0001a0003c0045t0006 | a0003c0009t0001g0171a0003c0015t0001g0168a0003c0015t0001g0189others(2): Show | 5 | 292 | 0.0171 | -13 | c.929 others(28): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 6/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69974828 | TTTGAGAC others(6): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0168 | 1 | 182 | 0.0055 | -13 | c.102 others(34): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69982348 | TTCCTGCC others(6): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
a0002 | a0002c0004a0002c0006a0002c0009 | a0002c0004t0001a0002c0006t0003a0002c0009t0004 | a0002c0004t0001g0161a0002c0006t0003g0065a0002c0006t0003g0066others(1): Show | 4 | 182 | 0.0220 | -13 | c.102 others(34): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94423569 | CTTTTTGT others(6): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0014 | a0014c0036 | a0014c0036t0001 | a0014c0036t0001g0180 | 1 | 438 | 0.0023 | -13 | c.256 others(30): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 40/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94429215 | TCCAAGGA others(6): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0009 | a0009c0028 | a0009c0028t0002 | a0009c0028t0002g0207 | 1 | 438 | 0.0023 | -13 | c.374 others(22): Show |
p.Ser others(6): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 51/52 | 3877/5072 | 3740/4101 | 1247/1366 | chr7 | TogoVar | ||
COL20A1_chr20_63288186_63339806 | 63295281 | CGTCTTCC others(6): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0025 | a0025c0028 | a0025c0028t0021 | a0025c0028t0021g0024 | 1 | 290 | 0.0035 | -13 | c.82+ others(25): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63317138 | CCCTGAAC others(6): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 290 | 0.0035 | -13 | c.266 others(30): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 21/35 | chr20 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138652735 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0006a0001c0010a0001c0016others(1): Show | a0001c0006t0001a0001c0010t0001a0001c0016t0001others(1): Show | a0001c0006t0001g0062a0001c0010t0001g0128a0001c0016t0001g0132others(1): Show | 4 | 158 | 0.0253 | -13 | c.333 others(32): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138805165 | GGGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 158 | 0.0063 | -13 | c.149 others(32): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 10/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178304505 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0128 | 1 | 236 | 0.0042 | -13 | c.406 others(30): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178306152 | GAGGGAGG others(6): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 236 | 0.0042 | -13 | c.406 others(28): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178379850 | CAGCCTGG others(6): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0129 | 1 | 236 | 0.0042 | -13 | c.362 others(32): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178403118 | AAAAATAA others(6): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0120 | 1 | 236 | 0.0042 | -13 | c.362 others(32): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178440690 | ACTGTAAC others(6): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 236 | 0.0042 | -13 | c.361 others(34): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178510673 | TAAAATAA others(6): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(150): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0021others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0076a0001c0001t0002g0048others(150): Show | 153 | 236 | 0.6483 | -13 | c.361 others(32): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85948523 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0006 | a0006c0047 | a0006c0047t0005 | a0006c0047t0005g0010 | 1 | 238 | 0.0042 | -13 | c.256 others(34): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86009365 | CATTTTGT others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01243.hp1 others(36): Show |
a0002a0004a0006others(14): Show | a0002c0003a0004c0002a0006c0017others(21): Show | a0002c0003t0004a0004c0002t0001a0004c0002t0002others(29): Show | a0002c0003t0004g0131a0004c0002t0001g0151a0004c0002t0001g0154others(36): Show | 39 | 238 | 0.1639 | -13 | c.231 others(32): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 19/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 86097449 | CCCCTCCT others(6): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0004 | a0004c0002 | a0004c0002t0004 | a0004c0002t0004g0206 | 1 | 238 | 0.0042 | -13 | c.160 others(32): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 5/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108807828 | ATGTAATT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0012 | 1 | 130 | 0.0077 | -13 | c.*60 others(24): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 896 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108886465 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18998.hp1 NA19086.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0091a0001c0001t0002g0116a0001c0009t0002g0097 | 3 | 130 | 0.0231 | -13 | c.976 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108913261 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01346.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0004a0001c0003t0008others(2): Show | a0001c0003t0001g0107a0001c0003t0004g0026a0001c0003t0008g0036others(2): Show | 5 | 130 | 0.0385 | -13 | c.780 others(30): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 13/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990230 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 | 1 | 130 | 0.0077 | -13 | c.439 others(32): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990232 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0027others(5): Show | a0001c0001t0003g0025a0001c0001t0003g0032a0001c0001t0020g0035others(6): Show | 9 | 130 | 0.0692 | -13 | c.439 others(32): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990234 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0123a0001c0005t0002g0124 | 2 | 130 | 0.0154 | -13 | c.439 others(32): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108990238 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 130 | 0.0077 | -13 | c.439 others(32): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109083448 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 130 | 0.0077 | -13 | c.368 others(32): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101360311 | AGGAGAGG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp2 HG03195.hp2 NA20129.hp1 others(1): Show |
a0002a0003 | a0002c0007a0003c0018 | a0002c0007t0004a0003c0018t0019 | a0002c0007t0004g0007a0002c0007t0004g0008a0002c0007t0004g0009others(1): Show | 4 | 174 | 0.0230 | -13 | c.-27 others(24): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2563 | chr7 | TogoVar |