view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COG3_chr13_45459939_45541701 | 45500090 | GTGTGTAT others(11): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0001a0002c0012t0001 | a0001c0001t0001g0137 a0002c0012t0001g0102 |
2 | 340 | 0.0059 | -18 | c.148 others(37): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45500092 | GTGTATAT others(11): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0203 | 1 | 257 | 0.0039 | -18 | c.148 others(37): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COG4_chr16_70475571_70528554 | 70506600 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 352 | 0.0028 | -18 | c.106 others(37): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | |||||||
COG6_chr13_39650662_39757628 | 39706237 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 368 | 0.0027 | -18 | c.128 others(37): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL11A1_chr1_102871473_103113522 | 103027396 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG02647.hp2 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0001c0030others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0006t0001others(4): Show | a0001c0002t0001g0069 a0001c0002t0003g0048 a0001c0006t0001g0036 others(7): Show |
10 | 25 | 0.4000 | -18 | c.781 others(35): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 5/66 | chr1 | TogoVar | |||||||
COL12A1_chr6_75079326_75211053 | 75208168 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0196 | 1 | 156 | 0.0064 | -18 | c.-24 others(29): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2116 | chr6 | TogoVar | |||||||
COL13A1_chr10_69796906_69964144 | 69804809 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02027.hp1 HG02071.hp2 others(28): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0004a0001c0007others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0002t0001g0184 a0001c0002t0001g0207 a0001c0002t0001g0211 others(28): Show |
31 | 33 | 0.9394 | -18 | c.294 others(35): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69837040 | TGTTTGTG others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(26): Show | a0001c0001t0001g0002 a0001c0001t0001g0031 a0001c0001t0001g0039 others(98): Show |
101 | 322 | 0.3137 | -18 | c.364 others(37): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 2/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69877697 | TCTCACAC others(11): Show |
T | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 | 1 | 303 | 0.0033 | -18 | c.436 others(33): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 5/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120166875 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02523.hp1 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0169 | 1 | 42 | 0.0238 | -18 | c.350 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02258.hp2 HG03225.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0006t0002others(1): Show | a0001c0001t0002g0205 a0002c0002t0001g0040 a0002c0006t0002g0074 others(2): Show |
5 | 25 | 0.2000 | -18 | c.877 others(35): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98942542 | CTTCTTGC others(11): Show |
C | upstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0176 | 1 | 308 | 0.0032 | -18 | c.-15 others(29): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 1364 | chr9 | TogoVar | |||||||
COL15A1_chr9_98938907_99075787 | 99073048 | GGTGTGTG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01978.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0042 | 1 | 245 | 0.0041 | -18 | c.*31 others(29): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2262 | chr9 | TogoVar | |||||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01515.hp2 HG02280.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0025a0004c0009 | a0001c0001t0001a0001c0025t0006a0004c0009t0001 | a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0067 others(6): Show |
9 | 20 | 0.4500 | -18 | c.307 others(35): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45419268 | TGTAGTGA others(11): Show |
T | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0067 | 1 | 290 | 0.0034 | -18 | c.106 others(37): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45442728 | CCTGGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001a0008a0020others(2): Show | a0001c0035a0008c0038a0008c0101others(3): Show | a0001c0035t0001a0008c0038t0001a0008c0101t0002others(3): Show | a0001c0035t0001g0033 a0001c0035t0001g0145 a0008c0038t0001g0054 others(5): Show |
8 | 290 | 0.0276 | -18 | c.107 others(37): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45442957 | ATGTGGGT others(11): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0004 | a0004c0030 | a0004c0030t0002 | a0004c0030t0002g0148 | 1 | 290 | 0.0034 | -18 | c.107 others(37): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45442967 | TGGTGCTG others(11): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0033 a0001c0035t0001g0145 |
2 | 290 | 0.0069 | -18 | c.107 others(37): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45443092 | ATGTGGGC others(11): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01070.hp1 others(10): Show |
a0001a0005a0024others(1): Show | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0108 others(10): Show |
13 | 221 | 0.0588 | -18 | c.107 others(37): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45474275 | GTGGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0033 a0001c0035t0001g0145 |
2 | 290 | 0.0069 | -18 | c.738 others(33): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 4/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45496071 | CATGCCCT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(44): Show |
a0001a0005a0011others(2): Show | a0001c0003a0001c0004a0001c0005others(15): Show | a0001c0003t0001a0001c0004t0001a0001c0004t0003others(18): Show | a0001c0003t0001g0156 a0001c0003t0001g0261 a0001c0004t0001g0008 others(44): Show |
47 | 248 | 0.1895 | -18 | c.250 others(35): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 29/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45504502 | CGGCCCCC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG02257.hp1 HG02922.hp2 |
a0019a0025 | a0019c0067a0025c0042 | a0019c0067t0001a0025c0042t0001 | a0019c0067t0001g0012 a0025c0042t0001g0035 |
2 | 290 | 0.0069 | -18 | c.282 others(27): Show |
p.Gly others(13): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 34/42 | 2889/5408 | 2823/4020 | 941/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
COL18A1_chr21_45400165_45518720 | 45504511 | CGGCCCCC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG02717.hp1 |
a0001a0021 | a0001c0052a0021c0091 | a0001c0052t0002a0021c0091t0011 | a0001c0052t0002g0055 a0021c0091t0011g0053 |
2 | 9 | 0.2222 | -18 | c.282 others(27): Show |
p.Pro others(13): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 34/42 | 2895/5408 | 2829/4020 | 943/1339 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||
COL19A1_chr6_69861556_70217468 | 69921356 | AATCATAT others(11): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 173 | 0.0058 | -18 | c.267 others(35): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL1A2_chr7_94389895_94436227 | 94396927 | TACCGTAG others(11): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0081 | 1 | 436 | 0.0023 | -18 | c.71- others(31): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56115139 | TGGGGACT others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(151): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0015others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0101 a0001c0001t0001g0102 others(149): Show |
154 | 262 | 0.5878 | -18 | c.175 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 16/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56130194 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0007 | a0007c0010 | a0007c0010t0003 | a0007c0010t0003g0070 | 1 | 262 | 0.0038 | -18 | c.154 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG02896.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0008a0004c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0002c0008t0001others(3): Show | a0001c0002t0001g0099 a0001c0002t0001g0105 a0001c0002t0003g0080 others(6): Show |
9 | 60 | 0.1500 | -18 | c.-38 others(37): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138660803 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02486.hp2 others(5): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0002t0005a0001c0006t0001others(5): Show | a0001c0001t0002g0020 a0001c0002t0005g0147 a0001c0006t0001g0112 others(5): Show |
8 | 133 | 0.0602 | -18 | c.324 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138660899 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0088 | 1 | 145 | 0.0069 | -18 | c.324 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138692463 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0020 | a0003c0020t0003 | a0003c0020t0003g0014 | 1 | 10 | 0.1000 | -18 | c.275 others(37): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138725752 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0060 | a0002c0060t0004 | a0002c0060t0004g0107 | 1 | 14 | 0.0714 | -18 | c.214 others(35): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178246152 | AGTGCAGG others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(60): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0091 a0001c0001t0001g0199 a0001c0001t0002g0048 others(60): Show |
63 | 236 | 0.2669 | -18 | c.141 others(34): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 24/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358399 | GTGTATGT others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG01358.hp2 others(13): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0005t0002others(6): Show | a0001c0001t0002g0083 a0001c0001t0004g0092 a0001c0001t0004g0100 others(13): Show |
16 | 236 | 0.0678 | -18 | c.362 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178358757 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG02723.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0005a0002c0003t0003 | a0001c0001t0003g0215 a0001c0001t0005g0133 a0002c0003t0003g0094 |
3 | 236 | 0.0127 | -18 | c.362 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 NA18943.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0048 a0001c0001t0003g0142 a0002c0002t0001g0141 |
3 | 37 | 0.0811 | -18 | c.361 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178523145 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01168.hp1 HG01433.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0004a0001c0005t0005a0002c0002t0001others(2): Show | a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0005t0005g0074 others(3): Show |
6 | 230 | 0.0261 | -18 | c.361 others(37): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85813532 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0042 | a0042c0050 | a0042c0050t0001 | a0042c0050t0001g0052 | 1 | 26 | 0.0385 | -18 | c.395 others(37): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85875716 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0006 | a0006c0063 | a0006c0063t0002 | a0006c0063t0002g0233 | 1 | 29 | 0.0345 | -18 | c.303 others(35): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85945000 | GTGTTTTT others(11): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 198 | 0.0051 | -18 | c.256 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85945002 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG01993.hp1 | a0004 | a0004c0071 | a0004c0071t0001 | a0004c0071t0001g0152 | 1 | 65 | 0.0154 | -18 | c.256 others(39): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 24/59 | chr1 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108990229 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 126 | 0.0079 | -18 | c.439 others(37): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019365 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0048 others(77): Show |
80 | 129 | 0.6202 | -18 | c.421 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109019367 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 127 | 0.0079 | -18 | c.421 others(35): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109211290 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0058 a0001c0002t0001g0066 |
2 | 78 | 0.0256 | -18 | c.367 others(37): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109254469 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01884.hp1 HG02056.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(7): Show | a0001c0001t0001g0059 a0001c0001t0001g0115 a0001c0001t0001g0121 others(13): Show |
16 | 52 | 0.3077 | -18 | c.367 others(37): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109265518 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0022 | 1 | 40 | 0.0250 | -18 | c.367 others(37): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101366500 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02615.hp2 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0015a0001c0005t0002a0001c0005t0011others(3): Show | a0001c0001t0015g0132 a0001c0005t0002g0164 a0001c0005t0011g0161 others(4): Show |
7 | 172 | 0.0407 | -18 | c.158 others(35): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101463895 | TTCTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01074.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0001c0009others(7): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(13): Show | a0001c0001t0002g0174 a0001c0001t0005g0059 a0001c0001t0005g0080 others(25): Show |
28 | 172 | 0.1628 | -18 | c.385 others(37): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101473608 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01074.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0005a0001c0002t0006a0001c0005t0005others(8): Show | a0001c0001t0005g0059 a0001c0001t0005g0080 a0001c0001t0005g0144 others(18): Show |
21 | 79 | 0.2658 | -18 | c.385 others(37): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |