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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLRN1_chr3_150921567_150977727 | 150969313 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0151 a0001c0001t0003g0164 |
2 | 295 | 0.0068 | 35 | c.253 others(52): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLRN1_chr3_150921567_150977727 | 150969313 | A | ATATATAT others(28): Show |
intron_variant | MODIFIER | HG03831.hp1 NA18939.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0176 a0001c0001t0003g0019 |
3 | 296 | 0.0101 | 35 | c.253 others(52): Show |
CLRN1 | ENSG00000163646.12 | transcript | ENST00000327047.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 139998336 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 5 | 0.2000 | 35 | c.109 others(54): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140251584 | G | GTTCCTTT others(28): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02559.hp2 |
a0001 | a0001c0014a0001c0018 | a0001c0014t0032a0001c0018t0002 | a0001c0014t0032g0028 a0001c0018t0002g0006 |
2 | 18 | 0.1111 | 35 | c.232 others(54): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19175882 | A | AGGCACAG others(28): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0247 | 1 | 45 | 0.0222 | 35 | c.*41 others(46): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 3590 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19291811 | T | TGCCCCGC others(28): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0299 | 1 | 344 | 0.0029 | 35 | c.-17 others(44): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 93 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19291821 | C | CCTGCCCC others(28): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(42): Show |
a0001a0005a0010others(2): Show | a0001c0002a0001c0003a0005c0007others(3): Show | a0001c0002t0001a0001c0003t0001a0005c0007t0004others(3): Show | a0001c0002t0001g0005 a0001c0002t0001g0010 a0001c0002t0001g0093 others(40): Show |
45 | 242 | 0.1860 | 35 | c.-18 others(44): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 103 | chr22 | TogoVar | |||||||
CLTCL1_chr22_19174473_19296719 | 19291835 | G | GCCCCGCC others(28): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0003 | a0001c0003t0001g0133 a0001c0003t0001g0153 a0001c0003t0001g0154 others(4): Show |
8 | 72 | 0.1111 | 35 | c.-19 others(44): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 117 | chr22 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 627023 | G | GAGAGAGA others(28): Show |
intron_variant | MODIFIER | HG03654.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0387 |
2 | 134 | 0.0149 | 35 | c.424 others(48): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAGAA others(28): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19007.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0070 | a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0070g0050 |
3 | 159 | 0.0189 | 35 | c.565 others(52): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CMC4_chrX_155056622_155076136 | 155075291 | C | CCCCTGAA others(28): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 156 | 0.0128 | 35 | c.-46 others(46): Show |
CMC4 | ENSG00000182712.16 | transcript | ENST00000369484.8 | protein_coding | 4156 | chrX | TogoVar | |||||||
CMKLR1_chr12_108283046_108344311 | 108339186 | T | TCATTCAA others(28): Show |
5_prime_UTR_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0381 | 1 | 398 | 0.0025 | 35 | c.-48 others(44): Show |
CMKLR1 | ENSG00000174600.14 | transcript | ENST00000550402.6 | protein_coding | 1/4 | 45596 | chr12 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87137048 | T | TTATATAT others(28): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0037 others(6): Show |
9 | 75 | 0.1200 | 35 | c.432 others(54): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNBD1_chr8_86861415_87387859 | 87352478 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 39 | 0.0256 | 35 | c.115 others(52): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154382594 | G | GAGGGGAG others(28): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0193 | a0001c0002t0193g0337 | 1 | 333 | 0.0030 | 35 | c.*23 others(48): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4920 | chr6 | TogoVar | |||||||
CNOT10_chr3_32680188_32778875 | 32754489 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 73 | 0.0137 | 35 | c.159 others(54): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT6L_chr4_77708387_77824368 | 77807276 | C | CAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0220 | 1 | 73 | 0.0137 | 35 | c.5+1 others(50): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
CNTLN_chr9_17130040_17508923 | 17278336 | C | CTTTAGAG others(28): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19043.hp1 |
a0001a0008 | a0001c0004a0008c0053 | a0001c0004t0003a0008c0053t0002 | a0001c0004t0003g0003 a0008c0053t0002g0004 |
2 | 216 | 0.0093 | 35 | c.983 others(52): Show |
CNTLN | ENSG00000044459.15 | transcript | ENST00000380647.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CNTN1_chr12_40687439_41077415 | 40813038 | C | CTTTCTTT others(28): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01346.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0005a0001c0003t0011 | a0001c0002t0001g0083 a0001c0002t0001g0198 a0001c0003t0005g0071 others(2): Show |
5 | 55 | 0.0909 | 35 | c.-76 others(54): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | chr12 | TogoVar | |||||||
CNTN1_chr12_40687439_41077415 | 40844069 | A | ATTTTTTT others(28): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0005a0001c0003t0011 | a0001c0002t0001g0197 a0001c0003t0005g0070 a0001c0003t0005g0071 others(2): Show |
5 | 30 | 0.1667 | 35 | c.-76 others(54): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2120405 | A | AAATATAT others(28): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0103 | 1 | 45 | 0.0222 | 35 | c.-14 others(56): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 2/24 | chr3 | TogoVar | |||||||
CNTN4_chr3_2093866_3062959 | 2340704 | T | TAGAGAGA others(28): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0009 | a0001c0009t0014 | a0001c0009t0014g0039 | 1 | 101 | 0.0099 | 35 | c.-89 others(52): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2340704 | T | TAGAGAGA others(28): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02074.hp1 |
a0001 | a0001c0002a0001c0009 | a0001c0002t0002a0001c0009t0004 | a0001c0002t0002g0102 a0001c0009t0004g0005 |
2 | 102 | 0.0196 | 35 | c.-89 others(52): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2340706 | T | TAGAGAGA others(28): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0009 | a0009c0012 | a0009c0012t0009 | a0009c0012t0009g0093 | 1 | 88 | 0.0114 | 35 | c.-89 others(52): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99201351 | T | TTCCTTCC others(28): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0052 a0001c0001t0003g0022 |
2 | 9 | 0.2222 | 35 | c.-20 others(58): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99338923 | T | TATATATA others(28): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 64 | 0.0156 | 35 | c.-71 others(54): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1122376 | A | AAGGGAGG others(28): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0004t0002a0001c0005t0001others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0082 others(13): Show |
16 | 119 | 0.1345 | 35 | c.-82 others(54): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245302 | A | ATATATAA others(28): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0214 | 1 | 221 | 0.0045 | 35 | c.358 others(54): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245307 | T | TAACATAT others(28): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0097 | 1 | 214 | 0.0047 | 35 | c.358 others(54): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146500125 | T | TCAGATTA others(28): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02486.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0007a0001c0003t0023a0001c0004t0003others(5): Show | a0001c0001t0007g0020 a0001c0003t0023g0030 a0001c0004t0003g0035 others(6): Show |
9 | 40 | 0.2250 | 35 | c.98- others(54): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 146665783 | T | TAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 15 | 0.0667 | 35 | c.98- others(54): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147084005 | A | ACATAATG others(28): Show |
intron_variant | MODIFIER | HG02717.hp1 NA20129.hp1 |
a0001a0002 | a0001c0006a0002c0017 | a0001c0006t0009a0002c0017t0015 | a0001c0006t0009g0028 a0002c0017t0015g0037 |
2 | 39 | 0.0513 | 35 | c.551 others(54): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147586523 | G | GAAGAGGG others(28): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0006a0001c0002t0001a0001c0003t0011 | a0001c0001t0006g0009 a0001c0002t0001g0007 a0001c0003t0011g0023 |
3 | 23 | 0.1304 | 35 | c.189 others(56): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 147586523 | G | GAAGAGGG others(28): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03139.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0005a0001c0011t0016 | a0001c0004t0005g0004 a0001c0011t0016g0019 |
2 | 22 | 0.0909 | 35 | c.189 others(56): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02258.hp2 HG04204.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0064 a0002c0002t0002g0043 |
2 | 105 | 0.0190 | 35 | c.133 others(54): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(28): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 104 | 0.0096 | 35 | c.133 others(54): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76522687 | C | CTTTCTTT others(28): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 164 | 0.0061 | 35 | c.275 others(52): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43708671 | G | GTCTCTTA others(28): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0345 | 1 | 382 | 0.0026 | 35 | c.-39 others(54): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
COBLL1_chr2_164675188_164846823 | 164687213 | C | CTTTTTTT others(28): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0018 | a0018c0034 | a0018c0034t0032 | a0018c0034t0032g0030 | 1 | 206 | 0.0049 | 35 | c.330 others(54): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 13/13 | chr2 | TogoVar | |||||||
COG3_chr13_45459939_45541701 | 45486338 | A | AGGGAGAG others(28): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18964.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0126 a0001c0001t0001g0134 |
3 | 154 | 0.0195 | 35 | c.844 others(50): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | chr13 | TogoVar | |||||||
COL14A1_chr8_120120102_120378573 | 120348241 | A | ATATGTAT others(28): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 | 1 | 216 | 0.0046 | 35 | c.507 others(54): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 98979963 | C | CGTAGGCA others(28): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 308 | 0.0032 | 35 | c.101 others(52): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45508442 | A | AGTGGGTG others(28): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp1 HG02109.hp2 others(8): Show |
a0001a0007a0013others(4): Show | a0001c0019a0001c0066a0007c0018others(6): Show | a0001c0019t0003a0001c0066t0005a0007c0018t0005others(6): Show | a0001c0019t0003g0119 a0001c0066t0005g0036 a0007c0018t0005g0045 others(8): Show |
11 | 287 | 0.0383 | 35 | c.324 others(52): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69996934 | G | GTGTGTGT others(28): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 HG02622.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0006a0002c0003t0012a0002c0004t0001others(4): Show | a0001c0001t0006g0107 a0002c0003t0012g0010 a0002c0004t0001g0008 others(9): Show |
12 | 180 | 0.0667 | 35 | c.102 others(56): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL19A1_chr6_69861556_70217468 | 69996938 | G | GTATATAT others(28): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0032 | 1 | 132 | 0.0076 | 35 | c.102 others(56): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(28): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01099.hp1 HG02622.hp2 others(3): Show |
a0001a0002a0014 | a0001c0017a0002c0011a0002c0023others(2): Show | a0001c0017t0005a0002c0011t0001a0002c0011t0012others(3): Show | a0001c0017t0005g0151 a0002c0011t0001g0018 a0002c0011t0012g0139 others(3): Show |
6 | 55 | 0.1091 | 35 | c.355 others(52): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL22A1_chr8_138583235_138919041 | 138636532 | A | AAAGGAAA others(28): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01099.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0122 a0001c0001t0003g0003 a0001c0001t0006g0115 others(6): Show |
9 | 58 | 0.1552 | 35 | c.355 others(52): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 48/64 | chr8 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178518658 | G | GGGCGGCC others(28): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 227 | 0.0044 | 35 | c.361 others(54): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178518658 | G | GGGCGGCG others(28): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02647.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0003a0001c0001t0005a0002c0003t0002others(3): Show | a0001c0001t0003g0006 a0001c0001t0003g0212 a0001c0001t0003g0213 others(5): Show |
8 | 234 | 0.0342 | 35 | c.361 others(54): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL24A1_chr1_85724233_86161772 | 85799248 | A | AAAGAAAG others(28): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 236 | 0.0042 | 35 | c.395 others(56): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar |