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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP3_chr9_39059710_39293167 | 39217358 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0003 | 1 | 4 | 0.2500 | -24 | c.390 others(43): Show |
CNTNAP3 | ENSG00000106714.18 | transcript | ENST00000297668.11 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76373247 | GAATATAT others(17): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02896.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0014a0003c0003others(1): Show | a0001c0001t0006a0002c0014t0013a0003c0003t0001others(2): Show | a0001c0001t0006g0052a0002c0014t0013g0054a0003c0003t0001g0098others(3): Show | 6 | 274 | 0.0219 | -24 | c.390 others(43): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76373263 | TATATGTG others(17): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0251 | 1 | 274 | 0.0037 | -24 | c.390 others(43): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(17): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01358.hp1 HG02040.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(7): Show | a0001c0001t0001g0174a0001c0001t0001g0200a0001c0001t0001g0232others(10): Show | 13 | 274 | 0.0475 | -24 | c.391 others(43): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522686 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02717.hp2 others(13): Show |
a0002a0004a0007others(1): Show | a0002c0002a0002c0005a0002c0012others(3): Show | a0002c0002t0002a0002c0002t0005a0002c0005t0004others(8): Show | a0002c0002t0002g0145a0002c0002t0002g0157a0002c0002t0002g0206others(13): Show | 16 | 274 | 0.0584 | -24 | c.275 others(41): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124297810 | TTTATTAT others(17): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02897.hp2 HG03130.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0002g0024a0001c0001t0004g0052a0001c0001t0004g0053others(4): Show | 7 | 64 | 0.1094 | -24 | c.381 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124419896 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 64 | 0.0156 | -24 | c.529 others(41): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124510477 | GTATATAT others(17): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0050 | 2 | 64 | 0.0313 | -24 | c.132 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124565574 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 64 | 0.0156 | -24 | c.175 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 64 | 0.0156 | -24 | c.207 others(45): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124707123 | AAAGAAGA others(17): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 64 | 0.0156 | -24 | c.207 others(45): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124713318 | CCTTTCTT others(17): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0023 | 2 | 64 | 0.0313 | -24 | c.207 others(45): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124786386 | AGAAAGAA others(17): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 64 | 0.0156 | -24 | c.275 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124860428 | CTTCCTTC others(17): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0028 | 1 | 64 | 0.0156 | -24 | c.321 others(43): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43644743 | TAGATAGA others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0153 | 3 | 384 | 0.0078 | -24 | c.264 others(39): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691361 | GAGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG03139.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0122 | 2 | 384 | 0.0052 | -24 | c.-39 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691417 | AAGAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 384 | 0.0026 | -24 | c.-39 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43691421 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02293.hp1 NA18948.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056a0001c0001t0001g0058a0001c0001t0001g0103others(1): Show | 4 | 384 | 0.0104 | -24 | c.-39 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164805315 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0008 | a0008c0011 | a0008c0011t0025 | a0008c0011t0025g0011 | 1 | 212 | 0.0047 | -24 | c.41+ others(41): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164805319 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0008 | a0008c0011 | a0008c0011t0025 | a0008c0011t0025g0012 | 1 | 212 | 0.0047 | -24 | c.41+ others(41): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164805325 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 | 1 | 212 | 0.0047 | -24 | c.41+ others(41): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51108934 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0008 | a0006c0008t0004 | a0006c0008t0004g0105 | 1 | 230 | 0.0044 | -24 | c.958 others(43): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51156698 | TCACACAC others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00639.hp1 others(34): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0002c0003others(11): Show | a0001c0002t0002a0001c0004t0001a0002c0003t0001others(13): Show | a0001c0002t0002g0019a0001c0002t0002g0071a0001c0002t0002g0214others(34): Show | 37 | 230 | 0.1609 | -24 | c.784 others(43): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30893127 | ATTACAAA others(17): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp1 others(28): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0070a0001c0001t0001g0086others(25): Show | 31 | 478 | 0.0649 | -24 | c.*33 others(35): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 2510 | chr14 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30895274 | ACCAATTT others(17): Show |
A | downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0402 | 1 | 478 | 0.0021 | -24 | c.*54 others(35): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 4657 | chr14 | TogoVar | ||||||
COG1_chr17_73188055_73213507 | 73192822 | GCCCGCCC others(17): Show |
G | upstream_gene_variant | MODIFIER | NA18953.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0013 | 1 | 428 | 0.0023 | -24 | c.-24 others(33): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 232 | chr17 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45513248 | CATATAAT others(17): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02922.hp1 HG03098.hp2 |
a0002 | a0002c0005a0002c0007a0002c0016 | a0002c0005t0003a0002c0007t0002a0002c0016t0003 | a0002c0005t0003g0157a0002c0007t0002g0224a0002c0016t0003g0156 | 3 | 342 | 0.0088 | -24 | c.180 others(43): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG4_chr16_70475571_70528554 | 70497573 | AATATTTC others(17): Show |
A | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0262 | 1 | 354 | 0.0028 | -24 | c.131 others(41): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 10/18 | chr16 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69936079 | GGGAGGGA others(17): Show |
G | intron_variant | MODIFIER | HG02895.hp2 NA19043.hp2 |
a0002a0011 | a0002c0005a0011c0022 | a0002c0005t0002a0011c0022t0010 | a0002c0005t0002g0166a0011c0022t0010g0232 | 2 | 324 | 0.0062 | -24 | c.177 others(41): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120298597 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0019a0001c0007t0001a0001c0007t0009 | a0001c0003t0019g0076a0001c0007t0001g0083a0001c0007t0001g0216others(2): Show | 5 | 218 | 0.0229 | -24 | c.431 others(43): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 35/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03195.hp2 others(2): Show |
a0002a0006a0013 | a0002c0023a0006c0019a0013c0027others(1): Show | a0002c0023t0001a0002c0023t0004a0006c0019t0001others(2): Show | a0002c0023t0001g0286a0002c0023t0004g0030a0006c0019t0001g0300others(2): Show | 5 | 336 | 0.0149 | -24 | c.307 others(41): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437628 | ACACACTC others(17): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03453.hp1 HG03471.hp2 others(1): Show |
a0001a0008 | a0001c0022a0008c0101 | a0001c0022t0001a0008c0101t0005 | a0001c0022t0001g0008a0001c0022t0001g0021a0001c0022t0001g0131others(1): Show | 4 | 292 | 0.0137 | -24 | c.107 others(43): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56130165 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0158 | 1 | 264 | 0.0038 | -24 | c.154 others(43): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 12/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56206693 | AATAAATA others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0007a0001c0015others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0101a0001c0001t0001g0102others(126): Show | 130 | 264 | 0.4924 | -24 | c.-38 others(43): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138650670 | TTAGATAG others(17): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(83): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0006others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0080others(83): Show | 86 | 158 | 0.5443 | -24 | c.333 others(41): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178294359 | GCTCCCTC others(17): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0019a0008c0018others(1): Show | a0002c0002t0009a0007c0019t0005a0008c0018t0003others(1): Show | a0002c0002t0009g0225a0007c0019t0005g0160a0008c0018t0003g0215others(1): Show | 4 | 236 | 0.0170 | -24 | c.407 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178308004 | GGTGTCTG others(17): Show |
G | intron_variant | MODIFIER | HG00639.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0117 | 1 | 236 | 0.0042 | -24 | c.362 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178311485 | TGTGTGTG others(17): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG02257.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0003g0073a0001c0001t0003g0170a0001c0001t0006g0226others(21): Show | 24 | 236 | 0.1017 | -24 | c.362 others(41): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178408975 | TACACACA others(17): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 236 | 0.0042 | -24 | c.362 others(45): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178498205 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 HG03669.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0003a0003c0005t0002a0003c0005t0005 | a0001c0001t0003g0027a0003c0005t0002g0005a0003c0005t0005g0208 | 3 | 236 | 0.0127 | -24 | c.361 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178518920 | GCGGTCGG others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(94): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0076a0001c0001t0002g0049a0001c0001t0002g0055others(94): Show | 97 | 236 | 0.4110 | -24 | c.361 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178547802 | CACACACC others(17): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG01517.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0001others(3): Show | a0001c0001t0003g0194a0001c0001t0004g0037a0001c0004t0001g0094others(3): Show | 6 | 236 | 0.0254 | -24 | c.361 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178547833 | CCCCACAC others(17): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02523.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0004a0005c0008t0002 | a0001c0001t0004g0035a0005c0008t0002g0050 | 2 | 236 | 0.0085 | -24 | c.361 others(43): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85858621 | CTCCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0027 | a0003c0027t0008 | a0003c0027t0008g0064 | 1 | 238 | 0.0042 | -24 | c.330 others(43): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 37/59 | chr1 | TogoVar | ||||||
COL24A1_chr1_85724233_86161772 | 85875716 | GACACACA others(17): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00642.hp1 others(49): Show |
a0001a0002a0003others(16): Show | a0001c0001a0002c0003a0003c0007others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0159a0001c0001t0001g0193a0001c0001t0002g0178others(49): Show | 52 | 238 | 0.2185 | -24 | c.303 others(41): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 33/59 | chr1 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 108829387 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0098 | 1 | 130 | 0.0077 | -24 | c.171 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 32/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109254483 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 130 | 0.0077 | -24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL25A1_chr4_108803725_109307658 | 109265518 | CGTGTGTG others(17): Show |
C | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0024 | 1 | 130 | 0.0077 | -24 | c.367 others(43): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101366494 | TTTTTTTT others(17): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp1 NA18942.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0064a0001c0001t0002g0098a0002c0003t0001g0065 | 3 | 174 | 0.0172 | -24 | c.158 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101450744 | TTCTATAT others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00673.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(23): Show | a0001c0001t0002g0064a0001c0001t0002g0093a0001c0001t0002g0136others(60): Show | 63 | 174 | 0.3621 | -24 | c.385 others(41): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |