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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIP2A_chr3_108544864_108594438 | 108569181 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 211 | 0.0047 | 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 | a0001c0002t0002a0001c0002t0034 | a0001c0002t0002g0081 a0001c0002t0002g0143 a0001c0002t0002g0230 others(1): Show |
4 | 216 | 0.0185 | 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 | a0002c0002t0001g0288 a0002c0002t0002g0289 |
2 | 105 | 0.0190 | 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 | a0001c0001t0001g0108 a0001c0001t0017g0109 |
2 | 338 | 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 | 272 | 0.0037 | 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 | a0001c0001t0049 | a0001c0001t0049g0234 | 1 | 125 | 0.0080 | 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 | 15 | 0.0667 | 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 | a0001c0001t0002g0122 a0001c0001t0011g0120 a0003c0003t0003g0297 |
3 | 17 | 0.1765 | 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 | 15 | 0.0667 | 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 | a0001c0001t0003a0001c0001t0008a0001c0001t0032 | a0001c0001t0003g0228 a0001c0001t0008g0271 a0001c0001t0032g0198 |
3 | 17 | 0.1765 | 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 | a0001c0001t0004g0290 a0001c0001t0006g0070 |
2 | 16 | 0.1250 | 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 | a0001c0001t0008a0001c0001t0045 | a0001c0001t0008g0253 a0001c0001t0045g0251 |
2 | 223 | 0.0090 | 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 | 310 | 0.0032 | 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 | a0001c0001t0002g0140 | 1 | 165 | 0.0061 | 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 | a0001c0004t0003g0058 | 1 | 232 | 0.0043 | 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 | a0001c0004t0003g0008 a0001c0004t0003g0009 a0001c0004t0003g0051 |
9 | 240 | 0.0375 | 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 | a0001c0004t0003g0019 a0001c0004t0003g0057 a0001c0004t0003g0059 others(1): Show |
5 | 236 | 0.0212 | 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 | 227 | 0.0044 | 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 | a0007 | a0007c0119 | a0007c0119t0023 | a0007c0119t0023g0091 | 1 | 351 | 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 | a0001c0003t0001g0269 | 1 | 315 | 0.0032 | 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 | 115 | 0.0087 | 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 | 65 | 0.0154 | 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 | a0001c0004t0003g0035 a0001c0004t0003g0036 a0001c0004t0005g0004 others(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 | 23 | 0.0435 | 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 | a0003 | a0003c0014 | a0003c0014t0021 | a0003c0014t0021g0022 | 1 | 37 | 0.0270 | 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 | 83 | 0.0120 | 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 | 98 | 0.0102 | 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 | 29 | 0.0345 | 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 | a0001c0012t0001g0061 | 1 | 207 | 0.0048 | 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 | a0001c0001t0001g0124 a0001c0001t0001g0138 |
2 | 166 | 0.0120 | 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 | a0001c0001t0001g0006 a0001c0001t0001g0117 |
2 | 28 | 0.0714 | 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 | a0001c0001t0001g0085 a0001c0001t0001g0126 a0001c0001t0001g0127 others(1): Show |
4 | 243 | 0.0165 | 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 | 132 | 0.0076 | 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 | a0001c0001t0001g0267 | 1 | 108 | 0.0093 | 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 |
a0002a0009 | a0002c0080a0009c0014 | a0002c0080t0001a0009c0014t0001 | a0002c0080t0001g0240 a0009c0014t0001g0271 |
2 | 173 | 0.0116 | 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 | a0001c0025t0002g0132 | 1 | 172 | 0.0058 | 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 |
a0004a0031 | a0004c0006a0031c0045 | a0004c0006t0004a0031c0045t0047 | a0004c0006t0004g0115 a0031c0045t0047g0177 |
2 | 284 | 0.0070 | 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 | a0001c0002t0001g0102 a0001c0002t0005g0147 a0001c0026t0001g0063 others(1): Show |
4 | 89 | 0.0449 | 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 | a0001c0001t0003g0067 a0001c0001t0003g0210 a0001c0001t0003g0214 others(4): Show |
7 | 156 | 0.0449 | 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 | a0001c0001t0011g0107 | 1 | 77 | 0.0130 | 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(267): Show |
a0001a0002a0003others(52): Show | a0001c0002a0001c0003a0001c0010others(161): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0012others(214): Show | a0001c0002t0001g0121 a0001c0002t0007g0137 a0001c0002t0012g0119 others(266): Show |
270 | 306 | 0.8824 | 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 | a0009 | a0009c0029 | a0009c0029t0017 | a0009c0029t0017g0148 | 1 | 130 | 0.0077 | 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 | a0002c0030t0008g0187 | 1 | 239 | 0.0042 | 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 | a0001c0007t0001g0072 a0002c0011t0001g0182 a0002c0018t0001g0195 others(1): Show |
4 | 302 | 0.0132 | 48 | c.85- others(65): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110253336 | T | TGTATGTA others(41): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18941.hp2 NA18968.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0049others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0049t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0153 a0002c0002t0002g0302 others(2): Show |
5 | 338 | 0.0148 | 48 | c.85- others(65): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385459 | G | GTGGATAG others(41): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0113 | a0002c0113t0008 | a0002c0113t0008g0040 | 1 | 370 | 0.0027 | 48 | c.180 others(67): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385572 | G | GCAGTGTG others(41): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0061 | 1 | 352 | 0.0028 | 48 | c.180 others(67): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385666 | C | CTGCAGTG others(41): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0038 | a0002c0038t0001 | a0002c0038t0001g0212 | 1 | 300 | 0.0033 | 48 | c.180 others(67): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |