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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(834): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0083 | 1 | 123 | 0.0081 | 841 | c.213 others(860): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96089966 | C | CCATTGGT others(834): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0179 | 1 | 123 | 0.0081 | 841 | c.213 others(860): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAP3K15_chrX_19355059_19520508 | 19478087 | A | AGAGGGGG others(834): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 140 | 0.0071 | 841 | c.525 others(858): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(834): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 173 | 0.0058 | 841 | c.641 others(856): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446353 | G | GGAGTGAG others(834): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 173 | 0.0058 | 841 | c.641 others(856): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(834): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 8 | 0.1250 | 841 | c.641 others(856): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(834): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 8 | 0.1250 | 841 | c.250 others(856): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(834): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0304 | 1 | 210 | 0.0048 | 841 | c.-5+ others(856): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(834): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(32): Show |
35 | 98 | 0.3571 | 841 | c.166 others(860): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(834): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 64 | 0.0156 | 841 | c.166 others(860): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(834): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0203 | 1 | 4 | 0.2500 | 841 | c.279 others(856): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OR3A2_chr17_3271177_3391308 | 3327954 | C | CTTGTAGT others(834): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0293 | 1 | 268 | 0.0037 | 841 | c.-27 others(860): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 2/4 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(834): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0294 | 1 | 24 | 0.0417 | 841 | c.371 others(858): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398477 | C | CACACACC others(834): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 214 | 0.0047 | 841 | c.106 others(858): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPP2R3B_chrX_328933_391907 | 363668 | A | ACAGTGCA others(834): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0016 | 1 | 21 | 0.0476 | 841 | c.325 others(858): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 363668 | A | ACAGTGCA others(834): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0011 | a0005c0011t0005 | a0005c0011t0005g0025 | 1 | 21 | 0.0476 | 841 | c.325 others(858): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151855454 | T | TGCTCCAC others(834): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 92 | 0.0109 | 841 | c.114 others(860): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(834): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 19 | 0.0526 | 841 | c.24+ others(858): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(834): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0056 | a0001c0001t0009g0065 a0001c0001t0056g0064 |
2 | 20 | 0.1000 | 841 | c.24+ others(858): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(834): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0029 | a0001c0001t0027g0151 a0001c0001t0029g0043 a0001c0001t0029g0044 |
3 | 21 | 0.1429 | 841 | c.24+ others(858): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(834): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0010 | 1 | 19 | 0.0526 | 841 | c.24+ others(858): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RUFY4_chr2_218064253_218095584 | 218082955 | C | CTGTGTGT others(834): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 a0001c0002t0001g0089 |
4 | 176 | 0.0227 | 841 | c.135 others(858): Show |
RUFY4 | ENSG00000188282.13 | transcript | ENST00000697321.1 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(834): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0247 | 1 | 122 | 0.0082 | 841 | c.89- others(854): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7448887 | C | CCTCCCTT others(834): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0050 | 1 | 164 | 0.0061 | 841 | c.548 others(860): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(834): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01975.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0074 | a0001c0001t0008g0161 a0001c0001t0008g0176 a0001c0001t0074g0175 |
3 | 5 | 0.6000 | 841 | c.597 others(858): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(834): Show |
intron_variant | MODIFIER | HG03669.hp2 HG04204.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 |
3 | 5 | 0.6000 | 841 | c.597 others(858): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(834): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02148.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0053 a0001c0001t0002g0071 others(1): Show |
4 | 6 | 0.6667 | 841 | c.597 others(858): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(834): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0131 others(1): Show |
4 | 124 | 0.0323 | 841 | c.-78 others(860): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1291223 | G | GACGGCGC others(834): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0060 | 1 | 257 | 0.0039 | 841 | c.157 others(860): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129538951 | G | AATAGGTC others(834): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0068 | 1 | 82 | 0.0122 | 841 | c.969 others(858): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771924 | G | GAGATGAA others(834): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0111 | 1 | 264 | 0.0038 | 841 | c.389 others(860): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | chr8 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930852 | T | TAGGGAGG others(834): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 | 1 | 462 | 0.0022 | 841 | c.*47 others(852): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4517 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(834): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0134 | 1 | 98 | 0.0102 | 841 | c.41- others(858): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204371 | T | TATGATGA others(834): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0157 | 1 | 173 | 0.0058 | 841 | c.41- others(858): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ZNF30_chr19_34921903_34950168 | 34923077 | A | ATATATAA others(834): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0183 | 1 | 302 | 0.0033 | 841 | c.-42 others(852): Show |
ZNF30 | ENSG00000168661.15 | transcript | ENST00000601142.2 | protein_coding | 3825 | chr19 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251555 | A | AAGGGGAA others(835): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 63 | 0.0159 | 842 | c.927 others(859): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ASXL3_chr18_33573219_33756195 | 33718150 | T | TAAGTTCC others(835): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 218 | 0.0046 | 842 | c.880 others(861): Show |
ASXL3 | ENSG00000141431.14 | transcript | ENST00000269197.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758753 | A | ACTCATTC others(835): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0292 | 1 | 275 | 0.0036 | 842 | c.654 others(861): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(835): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 8 | 0.1250 | 842 | c.-70 others(851): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404874 | C | CGGGGTCC others(835): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0020 | 1 | 310 | 0.0032 | 842 | c.*22 others(853): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 570 | chr19 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(835): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0238 | 1 | 229 | 0.0044 | 842 | c.411 others(859): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(835): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0113 | 1 | 106 | 0.0094 | 842 | c.411 others(859): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(835): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0029 | a0029c0064 | a0029c0064t0002 | a0029c0064t0002g0101 | 1 | 3 | 0.3333 | 842 | c.830 others(859): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(835): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0004 | a0004c0006 | a0004c0006t0057 | a0004c0006t0057g0045 | 1 | 38 | 0.0263 | 842 | c.248 others(859): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(835): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01071.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(8): Show | a0001c0001t0001g0206 a0001c0001t0002g0225 a0001c0003t0004g0015 others(14): Show |
17 | 20 | 0.8500 | 842 | c.342 others(861): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(835): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02148.hp1 NA18947.hp1 others(1): Show |
a0001 | a0001c0001a0001c0027 | a0001c0001t0001a0001c0001t0002a0001c0027t0001 | a0001c0001t0001g0187 a0001c0001t0002g0161 a0001c0001t0002g0173 others(1): Show |
4 | 7 | 0.5714 | 842 | c.342 others(861): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(835): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0215 | 1 | 4 | 0.2500 | 842 | c.342 others(861): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500846 | G | GTGTGTGT others(835): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0038 | a0008c0038t0001 | a0008c0038t0001g0054 | 1 | 285 | 0.0035 | 842 | c.268 others(861): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(835): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0017 | 1 | 196 | 0.0051 | 842 | c.181 others(861): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255668 | C | CAGGAAGG others(835): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0004 | a0004c0017 | a0004c0017t0001 | a0004c0017t0001g0012 | 1 | 273 | 0.0037 | 842 | c.85- others(859): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar |