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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF365_chr10_62369369_62407450 | 62370977 | T | TCATATGT others(416): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 423 | c.-34 others(434): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3391 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370977 | T | TCATATGT others(416): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0069 | 1 | 350 | 0.0029 | 423 | c.-34 others(434): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3391 | chr10 | TogoVar | |||||||
ZNF787_chr19_56082366_56126295 | 56105887 | G | GCCGCGCC others(416): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 410 | 0.0024 | 423 | c.-10 others(440): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975305 | A | ATAGATAA others(417): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 306 | 0.0033 | 424 | c.130 others(443): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975362 | T | TATAAATA others(417): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0110 | 1 | 306 | 0.0033 | 424 | c.130 others(443): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975438 | T | TATAAATA others(417): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 306 | 0.0033 | 424 | c.130 others(443): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975506 | G | GATAAATA others(417): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0061 | a0002c0061t0005 | a0002c0061t0005g0220 | 1 | 306 | 0.0033 | 424 | c.130 others(443): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975564 | T | TATATTTA others(417): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18947.hp2 NA19010.hp2 |
a0001 | a0001c0005a0001c0006a0001c0007 | a0001c0005t0030a0001c0006t0002a0001c0007t0001 | a0001c0005t0030g0106 a0001c0006t0002g0112 a0001c0007t0001g0291 |
3 | 306 | 0.0098 | 424 | c.130 others(443): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975591 | A | ATAAATAT others(417): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19064.hp1 |
a0001 | a0001c0007a0001c0015 | a0001c0007t0001a0001c0015t0002 | a0001c0007t0001g0289 a0001c0015t0002g0290 |
2 | 306 | 0.0065 | 424 | c.130 others(441): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975591 | A | ATAAATAT others(417): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18939.hp1 NA18943.hp2 others(9): Show |
a0001a0015 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0005t0017others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0005t0001g0105 others(9): Show |
12 | 306 | 0.0392 | 424 | c.130 others(441): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975591 | A | ATAAATAT others(417): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0113 | 1 | 306 | 0.0033 | 424 | c.130 others(441): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(417): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0064 | 1 | 276 | 0.0036 | 424 | c.535 others(441): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(417): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0008 | a0008c0036 | a0008c0036t0004 | a0008c0036t0004g0063 | 1 | 276 | 0.0036 | 424 | c.535 others(441): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277906 | C | CCCCCCCC others(417): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 HG02300.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0002a0003c0029 | a0001c0001t0001a0003c0002t0001a0003c0029t0001 | a0001c0001t0001g0066 a0001c0001t0001g0115 a0003c0002t0001g0059 others(1): Show |
4 | 276 | 0.0145 | 424 | c.535 others(441): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277979 | C | CCTCCGAG others(417): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0053 | a0001c0053t0002 | a0001c0053t0002g0148 | 1 | 276 | 0.0036 | 424 | c.535 others(441): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14780543 | G | GGTTTCAC others(417): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01346.hp1 HG01433.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0008a0001c0011others(13): Show | a0001c0001t0001a0001c0008t0017a0001c0011t0009others(16): Show | a0001c0001t0001g0120 a0001c0008t0017g0127 a0001c0008t0017g0136 others(23): Show |
26 | 218 | 0.1193 | 424 | c.-24 others(435): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 1984 | chr19 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(417): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0013 | a0004c0013t0036 | a0004c0013t0036g0015 | 1 | 262 | 0.0038 | 424 | c.106 others(443): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113418980 | T | TTCCCTCC others(417): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0005 | a0005c0011 | a0005c0011t0033 | a0005c0011t0033g0077 | 1 | 262 | 0.0038 | 424 | c.106 others(443): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581421 | T | TATACGTA others(417): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0077 | 1 | 169 | 0.0059 | 424 | c.48- others(441): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AHRR_chr5_316714_443285 | 391340 | C | CGGGCGCA others(417): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18906.hp2 |
a0004 | a0004c0003 | a0004c0003t0009a0004c0003t0023 | a0004c0003t0009g0233 a0004c0003t0023g0228 |
2 | 268 | 0.0075 | 424 | c.351 others(443): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85088046 | G | GTATTTAT others(417): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0104 | a0001c0001t0104g0027 | 1 | 256 | 0.0039 | 424 | c.*39 others(433): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 9/9 | 394 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144687000 | C | CGAGCACT others(417): Show |
upstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 246 | 0.0041 | 424 | c.-13 others(435): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1155 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687357 | C | CGAGCACT others(417): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 246 | 0.0041 | 424 | c.-17 others(435): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1512 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687515 | C | CGTGACCA others(417): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0001 | 1 | 246 | 0.0041 | 424 | c.-19 others(435): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1670 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687637 | G | GGTGAGCA others(417): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 246 | 0.0041 | 424 | c.-20 others(435): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1792 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687793 | A | ACCCCGTG others(417): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 | 1 | 246 | 0.0041 | 424 | c.-21 others(435): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1948 | chr8 | TogoVar | |||||||
ASH1L_chr1_155330268_155567803 | 155444916 | C | CTTGTTTG others(417): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0007 | 1 | 182 | 0.0055 | 424 | c.508 others(443): Show |
ASH1L | ENSG00000116539.14 | transcript | ENST00000392403.8 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1449723 | C | CCATCACC others(417): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18988.hp1 NA19011.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0140 a0003c0002t0001g0141 a0003c0002t0001g0142 |
3 | 185 | 0.0162 | 424 | c.93+ others(439): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
BAG3_chr10_119646380_119682819 | 119675887 | T | TCCTGCCC others(417): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 420 | 0.0024 | 424 | c.910 others(439): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BRF1_chr14_105204286_105306001 | 105276667 | C | CGGCCCTC others(417): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 a0001c0001t0002g0068 |
2 | 72 | 0.0278 | 424 | c.266 others(441): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105276945 | G | AGAGCTGG others(417): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0005 | a0001c0001t0003g0065 a0001c0002t0005g0061 |
2 | 72 | 0.0278 | 424 | c.266 others(441): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
C1QTNF12_chr1_1237453_1251722 | 1245105 | C | CCCCCACT others(417): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18955.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0050 a0002c0002t0002g0104 a0002c0002t0002g0116 |
3 | 328 | 0.0092 | 424 | c.178 others(439): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
CACNA1I_chr22_39565753_39694735 | 39602014 | T | TTCCCTCC others(417): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0008 | a0008c0012 | a0008c0012t0004 | a0008c0012t0004g0059 | 1 | 236 | 0.0042 | 424 | c.482 others(441): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39602014 | T | TTCCCTCC others(417): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0146 | 1 | 236 | 0.0042 | 424 | c.482 others(441): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209189 | T | TTTCCTTC others(417): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 142 | 0.0070 | 424 | c.244 others(443): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(417): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 330 | 0.0030 | 424 | c.907 others(439): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(417): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03139.hp1 |
a0001 | a0001c0009 | a0001c0009t0011 | a0001c0009t0011g0030 a0001c0009t0011g0033 |
2 | 330 | 0.0061 | 424 | c.907 others(439): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CAMKK2_chr12_121232692_121301709 | 121255266 | A | ATATATAT others(417): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0260 | 1 | 330 | 0.0030 | 424 | c.907 others(439): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(417): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 284 | 0.0035 | 424 | c.411 others(441): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCR9_chr3_45881543_45908174 | 45890269 | A | ATATTTAT others(417): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0119 | 1 | 424 | 0.0024 | 424 | c.-29 others(441): Show |
CCR9 | ENSG00000173585.18 | transcript | ENST00000357632.7 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(417): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0150 |
2 | 388 | 0.0052 | 424 | c.487 others(441): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CFAP107_chr1_12741200_12768699 | 12762351 | A | AGGGGGTG others(417): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0003 | 1 | 336 | 0.0030 | 424 | c.*14 others(435): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 4/4 | 1488 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNOT1_chr16_58514951_58634826 | 58586397 | G | GGGGAGGG others(417): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 308 | 0.0033 | 424 | c.637 others(439): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
CNOT1_chr16_58514951_58634826 | 58586399 | G | GGAGGGGA others(417): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 308 | 0.0033 | 424 | c.637 others(439): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 7/48 | chr16 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CCCTCCCT others(417): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 223 | 0.0045 | 424 | c.-42 others(435): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246576200 | A | ACTCCAGC others(417): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 320 | 0.0031 | 424 | c.-52 others(441): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110201319 | G | GGGAGGAG others(417): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03139.hp1 NA21309.hp1 |
a0003a0004 | a0003c0038a0004c0035 | a0003c0038t0001a0004c0035t0001 | a0003c0038t0001g0196 a0003c0038t0001g0228 a0004c0035t0001g0103 |
3 | 344 | 0.0087 | 424 | c.108 others(441): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 19/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(417): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0307 | 1 | 344 | 0.0029 | 424 | c.85- others(441): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL5A3_chr19_9954561_10015504 | 9970419 | G | GCTGTGGG others(417): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 HG03453.hp1 others(2): Show |
a0027a0035 | a0027c0039a0027c0059a0035c0080others(1): Show | a0027c0039t0014a0027c0059t0015a0035c0080t0015others(1): Show | a0027c0039t0014g0182 a0027c0039t0014g0192 a0027c0059t0015g0183 others(2): Show |
5 | 412 | 0.0121 | 424 | c.393 others(441): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89597875 | A | ACCCACCC others(417): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0010 | 1 | 348 | 0.0029 | 424 | c.*12 others(435): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 630 | chr16 | TogoVar |