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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148137671 | A | AGGAAGGA others(21): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 40 | 0.0250 | 28 | c.255 others(47): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 41979666 | T | TTTTTAAA others(21): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0030 | a0030c0035 | a0030c0035t0007 | a0030c0035t0007g0023 | 1 | 108 | 0.0093 | 28 | c.147 others(47): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 9/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 42030750 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0055 | 1 | 108 | 0.0093 | 28 | c.391 others(47): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
CNTNAP3B_chr9_41885536_42134426 | 42034186 | G | GTATCTAT others(21): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03831.hp2 |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0003a0010c0013t0003 | a0001c0001t0003g0096a0010c0013t0003g0108 | 2 | 108 | 0.0185 | 28 | c.391 others(47): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 3/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76460773 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0011 | a0002c0011t0005 | a0002c0011t0005g0139 | 1 | 274 | 0.0037 | 28 | c.133 others(47): 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(21): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0011 | a0011c0045 | a0011c0045t0014 | a0011c0045t0014g0075 | 1 | 274 | 0.0037 | 28 | c.133 others(47): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76470482 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0023 | 1 | 274 | 0.0037 | 28 | c.165 others(47): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP4_chr16_76272401_76565757 | 76522634 | C | CTTCCTTC others(21): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0012 | 1 | 274 | 0.0037 | 28 | c.275 others(45): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124485631 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG02922.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0002a0001c0002t0005a0001c0002t0010others(2): Show | a0001c0002t0002g0031a0001c0002t0005g0045a0001c0002t0010g0032others(2): Show | 5 | 64 | 0.0781 | 28 | c.106 others(49): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124571527 | C | CTTTTTCT others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 64 | 0.0156 | 28 | c.175 others(47): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124625427 | C | CATAGTAT others(21): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03130.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0004a0001c0001t0018a0001c0002t0001others(1): Show | a0001c0001t0004g0052a0001c0001t0018g0021a0001c0002t0001g0064others(1): Show | 4 | 64 | 0.0625 | 28 | c.187 others(49): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124655937 | G | GAGAAAGA others(21): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 64 | 0.0156 | 28 | c.207 others(47): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124812135 | T | TTTATATA others(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02897.hp2 NA19000.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0024a0001c0001t0002g0049a0001c0002t0002g0034 | 3 | 64 | 0.0469 | 28 | c.321 others(49): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124871277 | C | CTTATTTA others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0006a0001c0002t0001g0064a0001c0002t0002g0060 | 3 | 64 | 0.0469 | 28 | c.343 others(47): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124871281 | C | CTTATTTA others(21): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 64 | 0.0156 | 28 | c.343 others(47): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COA1_chr7_43634257_43734523 | 43644740 | A | AGATAGAT others(21): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253a0001c0001t0001g0258 | 2 | 384 | 0.0052 | 28 | c.264 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644740 | A | AGATAGAT others(21): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18971.hp2 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265a0001c0001t0001g0267a0001c0001t0001g0276 | 3 | 384 | 0.0078 | 28 | c.264 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644799 | C | CAGAGAGA others(21): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 384 | 0.0026 | 28 | c.264 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43644817 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0358 | 3 | 384 | 0.0078 | 28 | c.264 others(43): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 4/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43664103 | A | AAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01175.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0125a0001c0001t0001g0126others(4): Show | 7 | 384 | 0.0182 | 28 | c.-38 others(47): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COA1_chr7_43634257_43734523 | 43710375 | A | AAAAAAAA others(21): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0374 | 1 | 384 | 0.0026 | 28 | c.-39 others(47): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
COBLL1_chr2_164675188_164846823 | 164818769 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0062 | a0001c0002t0062g0023 | 1 | 212 | 0.0047 | 28 | c.41+ others(45): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51070392 | A | AACACACA others(21): Show |
intron_variant | MODIFIER | HG02004.hp1 NA19064.hp2 homoSapiens_chm13v2.hp1 |
a0001a0003a0005 | a0001c0004a0003c0001a0005c0005 | a0001c0004t0001a0003c0001t0001a0005c0005t0003 | a0001c0004t0001g0193a0003c0001t0001g0220a0005c0005t0003g0087 | 3 | 230 | 0.0130 | 28 | c.109 others(49): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51098224 | C | CTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01433.hp1 HG01934.hp2 others(12): Show |
a0002a0003a0004others(4): Show | a0002c0007a0002c0019a0002c0065others(8): Show | a0002c0007t0001a0002c0019t0001a0002c0065t0001others(9): Show | a0002c0007t0001g0176a0002c0007t0001g0179a0002c0019t0001g0031others(12): Show | 15 | 230 | 0.0652 | 28 | c.958 others(47): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 6/12 | chr7 | TogoVar | ||||||
COCH_chr14_30869559_30895618 | 30882120 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0102 | 2 | 478 | 0.0042 | 28 | c.629 others(45): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39706261 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG02293.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0001g0192others(5): Show | 8 | 370 | 0.0216 | 28 | c.128 others(47): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL11A1_chr1_102871473_103113522 | 102878475 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0100 | 1 | 184 | 0.0054 | 28 | c.527 others(45): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 66/66 | chr1 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75140655 | C | CAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0019 | a0001c0019t0005 | a0001c0019t0005g0048 | 1 | 206 | 0.0049 | 28 | c.495 others(47): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 27/65 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208150 | C | CTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0024 | a0024c0020 | a0024c0020t0007 | a0024c0020t0007g0047 | 1 | 206 | 0.0049 | 28 | c.-24 others(39): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2098 | chr6 | TogoVar | ||||||
COL12A1_chr6_75079326_75211053 | 75208152 | C | CTCTCTCT others(21): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 1 | 206 | 0.0049 | 28 | c.-24 others(39): Show |
COL12A1 | ENSG00000111799.22 | transcript | ENST00000322507.13 | protein_coding | 2100 | chr6 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0309 | 1 | 324 | 0.0031 | 28 | c.294 others(45): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120173564 | C | CATCTATC others(21): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp2 HG01884.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(7): Show | a0001c0001t0001g0081a0001c0001t0003g0043a0001c0003t0001g0050others(8): Show | 11 | 218 | 0.0505 | 28 | c.436 others(45): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120202989 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0207 | 1 | 218 | 0.0046 | 28 | c.878 others(43): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0010 | a0010c0075 | a0010c0075t0007 | a0010c0075t0007g0002 | 1 | 310 | 0.0032 | 28 | c.100 others(45): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0050a0001c0001t0002g0308a0002c0003t0002g0012 | 3 | 310 | 0.0097 | 28 | c.100 others(45): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98950590 | T | TCCTTCCT others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03540.hp1 |
a0004a0007 | a0004c0005a0007c0008 | a0004c0005t0001a0007c0008t0002 | a0004c0005t0001g0307a0007c0008t0002g0306 | 2 | 310 | 0.0065 | 28 | c.100 others(45): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99066599 | G | GTTTTTTT others(21): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0014 | a0014c0020 | a0014c0020t0001 | a0014c0020t0001g0131 | 1 | 310 | 0.0032 | 28 | c.365 others(45): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 39/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL16A1_chr1_31647263_31709017 | 31707385 | T | TTTTCTTT others(21): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0078 | 1 | 342 | 0.0029 | 28 | c.-35 others(39): Show |
COL16A1 | ENSG00000084636.18 | transcript | ENST00000373672.8 | protein_coding | 3369 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45405287 | G | GCTGCGGG others(21): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03688.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0213a0001c0004t0001g0214 | 2 | 292 | 0.0069 | 28 | c.11+ others(39): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 1/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437463 | C | CACAGGCA others(21): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03041.hp1 |
a0002 | a0002c0021 | a0002c0021t0002 | a0002c0021t0002g0001a0002c0021t0002g0148 | 2 | 292 | 0.0069 | 28 | c.107 others(47): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490467 | T | TGGGTTCC others(21): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp1 |
a0013a0014 | a0013c0102a0014c0039 | a0013c0102t0004a0014c0039t0009 | a0013c0102t0004g0196a0014c0039t0009g0197a0014c0039t0009g0198 | 3 | 292 | 0.0103 | 28 | c.203 others(45): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 20/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490472 | C | CCCTGGGC others(21): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0032 | a0032c0052 | a0032c0052t0002 | a0032c0052t0002g0077 | 1 | 292 | 0.0034 | 28 | c.203 others(45): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 20/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500153 | A | ATGTGGGT others(21): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03098.hp1 |
a0004a0027 | a0004c0100a0027c0070 | a0004c0100t0001a0027c0070t0001 | a0004c0100t0001g0039a0027c0070t0001g0012 | 2 | 292 | 0.0069 | 28 | c.268 others(47): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69921481 | T | TATATATT others(21): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0146 | 1 | 182 | 0.0055 | 28 | c.267 others(45): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63339738 | A | ACATCATA others(21): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01358.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0083a0006c0010t0001g0190a0006c0010t0001g0191others(1): Show | 4 | 290 | 0.0138 | 28 | c.*90 others(39): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 4933 | chr20 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098596 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0011 | a0011c0021 | a0011c0021t0020 | a0011c0021t0020g0095 | 1 | 264 | 0.0038 | 28 | c.181 others(47): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56148368 | G | GAGAGAGA others(21): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 | 1 | 264 | 0.0038 | 28 | c.143 others(47): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 10/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138643647 | T | TAGATAGA others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0060 | a0002c0060t0004 | a0002c0060t0004g0106 | 1 | 158 | 0.0063 | 28 | c.350 others(47): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 47/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCACACAC others(21): Show |
intron_variant | MODIFIER | HG03704.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0124a0001c0002t0002g0043 | 2 | 158 | 0.0127 | 28 | c.318 others(45): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138663012 | T | TCTCACAC others(21): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02630.hp1 others(5): Show |
a0001a0004 | a0001c0012a0001c0018a0001c0024others(4): Show | a0001c0012t0002a0001c0018t0004a0001c0024t0004others(5): Show | a0001c0012t0002g0059a0001c0018t0004g0086a0001c0024t0004g0136others(5): Show | 8 | 158 | 0.0506 | 28 | c.318 others(45): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 42/64 | chr8 | TogoVar |