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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIP2A_chr3_108544864_108594438 | 108569168 | C | CTATATAT others(41): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0333a0001c0001t0004g0349 | 2 | 372 | 0.0054 | 48 | c.111 others(65): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180a0001c0001t0002g0256 | 2 | 372 | 0.0054 | 48 | c.111 others(65): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19000.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252a0001c0001t0002g0253a0001c0001t0002g0254 | 3 | 372 | 0.0081 | 48 | c.111 others(65): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02080.hp1 HG03209.hp2 HG03831.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0165a0001c0001t0002g0173a0001c0001t0002g0221others(5): Show | 8 | 372 | 0.0215 | 48 | c.111 others(65): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 372 | 0.0027 | 48 | c.111 others(65): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 9/20 | chr3 | TogoVar | ||||||
CLCC1_chr1_108924505_108968484 | 108956874 | T | TGGGAGGC others(41): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03239.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0037 | a0001c0002t0002g0090a0001c0002t0002g0166a0001c0002t0002g0280others(1): Show | 4 | 394 | 0.0102 | 48 | c.-12 others(65): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
CLEC1A_chr12_10064554_10103985 | 10088427 | T | TAACTGTT others(41): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18612.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0315a0002c0002t0002g0316 | 2 | 384 | 0.0052 | 48 | c.214 others(63): Show |
CLEC1A | ENSG00000150048.10 | transcript | ENST00000315330.8 | protein_coding | 2/5 | chr12 | TogoVar | ||||||
CLIC5_chr6_45893456_46020860 | 46006129 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0093a0001c0001t0017g0094 | 2 | 340 | 0.0059 | 48 | c.63+ others(63): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
CLIP2_chr7_74284407_74410935 | 74361205 | T | TTCCTTCC others(41): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 278 | 0.0036 | 48 | c.131 others(65): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0233 | 1 | 254 | 0.0039 | 48 | c.28+ others(65): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0296 | 1 | 320 | 0.0031 | 48 | c.602 others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | NA18983.hp2 NA19060.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0011a0003c0003t0003 | a0001c0001t0002g0122a0001c0001t0011g0120a0003c0003t0003g0297 | 3 | 320 | 0.0094 | 48 | c.602 others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 320 | 0.0031 | 48 | c.602 others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03239.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0033 | a0001c0001t0003g0228a0001c0001t0008g0271a0001c0001t0033g0198 | 3 | 320 | 0.0094 | 48 | c.602 others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537706 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0290a0001c0001t0006g0070 | 2 | 320 | 0.0063 | 48 | c.602 others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10654384 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG02293.hp1 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0046 | a0001c0001t0008g0253a0001c0001t0046g0251 | 2 | 320 | 0.0063 | 48 | c.11+ others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10654393 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0116 | 1 | 320 | 0.0031 | 48 | c.11+ others(65): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65145958 | A | AAAATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 190 | 0.0053 | 48 | c.*48 others(59): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2260 | chr15 | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151743028 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0059 | 1 | 336 | 0.0030 | 48 | c.590 others(61): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151743028 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01256.hp1 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0007a0001c0004t0003g0008a0001c0004t0003g0050 | 9 | 336 | 0.0268 | 48 | c.590 others(61): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | ||||||
CNGA2_chrX_151729746_151750564 | 151743028 | G | GTGTGTGT others(41): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0018a0001c0004t0003g0058a0001c0004t0003g0060others(1): Show | 5 | 336 | 0.0149 | 48 | c.590 others(61): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879799 | C | CTTTCTTT others(41): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0087 | 1 | 360 | 0.0028 | 48 | c.*43 others(59): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2540 | chr16 | TogoVar | ||||||
CNGB1_chr16_57877340_57976128 | 57879805 | T | TTCCCTCC others(41): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0012 | a0012c0119 | a0012c0119t0023 | a0012c0119t0023g0091 | 1 | 360 | 0.0028 | 48 | c.*43 others(59): Show |
CNGB1 | ENSG00000070729.14 | transcript | ENST00000251102.13 | protein_coding | 2534 | chr16 | TogoVar | ||||||
CNPY1_chr7_155496129_155551559 | 155527030 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0268 | 1 | 426 | 0.0024 | 48 | c.100 others(67): Show |
CNPY1 | ENSG00000146910.14 | transcript | ENST00000636446.2 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2400412 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0107 | 1 | 116 | 0.0086 | 48 | c.-89 others(67): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2400416 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0106 | 1 | 116 | 0.0086 | 48 | c.-89 others(67): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99369169 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 66 | 0.0152 | 48 | c.-71 others(67): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146721380 | C | CTATATAT others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0004a0001c0012 | a0001c0004t0003a0001c0004t0005a0001c0012t0004 | a0001c0004t0003g0035a0001c0004t0003g0036a0001c0004t0005g0004others(1): Show | 4 | 40 | 0.1000 | 48 | c.98- others(65): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 146895217 | T | TTTCCTTC others(41): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0017 | 1 | 40 | 0.0250 | 48 | c.402 others(67): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 147586543 | A | AAGGAAGG others(41): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0005 | 1 | 40 | 0.0250 | 48 | c.189 others(69): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148222495 | T | TATGAATG others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0014 | a0004c0014t0021 | a0004c0014t0021g0022 | 1 | 40 | 0.0250 | 48 | c.324 others(67): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CNTNAP3B_chr9_41885536_42134426 | 41934112 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0057 | 1 | 108 | 0.0093 | 48 | c.223 others(67): Show |
CNTNAP3B | ENSG00000154529.15 | transcript | ENST00000377561.7 | protein_coding | 14/23 | chr9 | TogoVar | ||||||
CNTNAP4_chr16_76272401_76565757 | 76470482 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0251 | 1 | 274 | 0.0037 | 48 | c.165 others(67): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CNTNAP5_chr2_124020287_124926219 | 124786507 | A | AAAAGAAA others(41): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0012 | 1 | 64 | 0.0156 | 48 | c.275 others(67): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COBLL1_chr2_164675188_164846823 | 164805344 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0014 | 1 | 212 | 0.0047 | 48 | c.41+ others(65): Show |
COBLL1 | ENSG00000082438.18 | transcript | ENST00000652658.2 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45486339 | C | CGGGAGAG others(41): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0138 | 2 | 342 | 0.0059 | 48 | c.844 others(63): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG6_chr13_39650662_39757628 | 39706255 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | NA19064.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0113 | 2 | 370 | 0.0054 | 48 | c.128 others(67): Show |
COG6 | ENSG00000133103.17 | transcript | ENST00000455146.8 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL13A1_chr10_69796906_69964144 | 69810376 | G | GAGAGAGA others(41): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02165.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0085a0001c0001t0001g0126a0001c0001t0001g0127others(1): Show | 4 | 324 | 0.0124 | 48 | c.294 others(65): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 1/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120200046 | A | AAAGCATA others(41): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0024 | a0001c0024t0003 | a0001c0024t0003g0104 | 1 | 218 | 0.0046 | 48 | c.877 others(63): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45491465 | G | GTAGAGGC others(41): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 292 | 0.0034 | 48 | c.215 others(65): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 22/41 | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500221 | A | ATAGTGTG others(41): Show |
intron_variant | MODIFIER | HG03710.hp2 NA18953.hp1 |
a0002a0010 | a0002c0083a0010c0014 | a0002c0083t0001a0010c0014t0001 | a0002c0083t0001g0237a0010c0014t0001g0279 | 2 | 292 | 0.0069 | 48 | c.268 others(67): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500221 | A | ATAGTGTG others(41): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0025 | a0001c0025t0002 | a0001c0025t0002g0164 | 1 | 292 | 0.0034 | 48 | c.268 others(67): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL20A1_chr20_63288186_63339806 | 63306165 | A | AGGAAGTT others(41): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19043.hp1 |
a0004a0011 | a0004c0006a0011c0045 | a0004c0006t0004a0011c0045t0047 | a0004c0006t0004g0115a0011c0045t0047g0178 | 2 | 290 | 0.0069 | 48 | c.496 others(63): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL22A1_chr8_138583235_138919041 | 138676454 | A | AAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02647.hp1 NA19043.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0026a0003c0013 | a0001c0002t0001a0001c0002t0005a0001c0026t0001others(1): Show | a0001c0002t0001g0102a0001c0002t0005g0151a0001c0026t0001g0061others(1): Show | 4 | 158 | 0.0253 | 48 | c.315 others(65): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178294413 | T | TCCCAAAT others(41): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02809.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0003a0001c0001t0006a0002c0003t0003others(2): Show | a0001c0001t0003g0067a0001c0001t0003g0210a0001c0001t0003g0214others(4): Show | 7 | 236 | 0.0297 | 48 | c.407 others(65): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101434169 | C | CCCTTCCT others(41): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0108 | 1 | 174 | 0.0058 | 48 | c.282 others(67): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114175039 | T | TGCTTAGT others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(268): Show |
a0001a0002a0003others(52): Show | a0001c0002a0001c0003a0001c0010others(162): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0012others(215): Show | a0001c0002t0001g0121a0001c0002t0007g0133a0001c0002t0012g0119others(267): Show | 271 | 308 | 0.8799 | 48 | c.190 others(67): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 3/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL27A1_chr9_114150537_114317511 | 114253295 | A | AAAAGAAA others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0008 | a0008c0029 | a0008c0029t0017 | a0008c0029t0017g0148 | 1 | 308 | 0.0033 | 48 | c.314 others(65): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 27/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110170133 | G | GGAAGGAA others(41): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0030 | a0002c0030t0008 | a0002c0030t0008g0189 | 1 | 344 | 0.0029 | 48 | c.374 others(65): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 42/51 | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253311 | T | TGTATGTA others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 NA18963.hp2 others(1): Show |
a0001a0002a0003 | a0001c0007a0002c0011a0002c0018others(1): Show | a0001c0007t0001a0002c0011t0001a0002c0018t0001others(1): Show | a0001c0007t0001g0070a0002c0011t0001g0184a0002c0018t0001g0197others(1): Show | 4 | 344 | 0.0116 | 48 | c.85- others(65): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar |