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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(712): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01070.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(18): Show | 49 | 274 | 0.1788 | 719 | c.*51 others(730): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | ||||||
ZFYVE28_chr4_2264597_2423645 | 2299660 | G | GGGAAAGG others(712): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0024 | 1 | 290 | 0.0035 | 719 | c.205 others(738): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370953 | G | GTGATATA others(712): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 350 | 0.0029 | 719 | c.-35 others(730): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3415 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126251885 | A | ATGGGATG others(713): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0046 | a0001c0003t0046g0046 | 1 | 252 | 0.0040 | 720 | c.260 others(739): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581415 | T | TACACGTA others(713): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 169 | 0.0059 | 720 | c.48- others(737): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AHCTF1_chr1_246834098_246936948 | 246868612 | A | AAAAAAAA others(713): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0147 | 1 | 376 | 0.0027 | 720 | c.308 others(737): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(713): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0239 | 1 | 462 | 0.0022 | 720 | c.564 others(735): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60349993 | C | CAGGGGAA others(713): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 334 | 0.0030 | 720 | c.838 others(735): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(713): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 334 | 0.0030 | 720 | c.838 others(735): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350083 | G | GAGGGGAA others(713): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 334 | 0.0030 | 720 | c.838 others(735): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(713): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0108 | 1 | 242 | 0.0041 | 720 | c.927 others(737): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(713): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0089 | 1 | 168 | 0.0060 | 720 | c.318 others(739): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79146069 | G | GGCTGCAT others(713): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03209.hp2 |
a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0169a0005c0016t0001g0171 | 2 | 298 | 0.0067 | 720 | c.726 others(737): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79146424 | T | TGGCGGTG others(713): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0241 | 1 | 298 | 0.0034 | 720 | c.726 others(737): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79308963 | T | TGAGGAGT others(713): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0101a0001c0004t0003g0102a0001c0004t0003g0103 | 3 | 298 | 0.0101 | 720 | c.177 others(739): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79309250 | C | CGGAGGAG others(713): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 298 | 0.0034 | 720 | c.177 others(739): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(713): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 391 | 0.0026 | 720 | c.*36 others(731): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(713): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 720 | c.*36 others(731): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1076881 | G | GGGGAGGC others(713): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 326 | 0.0031 | 720 | c.*60 others(731): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4941 | chr1 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278938 | G | GGGAGGGG others(713): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0105 | 1 | 410 | 0.0024 | 720 | c.465 others(735): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004602 | G | GTGATGAT others(713): Show |
intron_variant | MODIFIER | HG00673.hp2 NA18964.hp1 NA19079.hp2 |
a0003a0097 | a0003c0004a0097c0088 | a0003c0004t0000a0097c0088t0000 | a0003c0004t0000g0146a0003c0004t0000g0192a0097c0088t0000g0160 | 3 | 346 | 0.0087 | 720 | c.963 others(737): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218564 | C | CCTCCCGC others(713): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 278 | 0.0036 | 720 | c.108 others(739): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(713): Show |
intron_variant | MODIFIER | HG01516.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0314 | 2 | 338 | 0.0059 | 720 | c.300 others(737): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAMKK2_chr12_121232692_121301709 | 121255330 | T | TTATATAT others(713): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0079 | 1 | 330 | 0.0030 | 720 | c.907 others(735): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAMTA1_chr1_6780454_7774706 | 6940912 | A | AGGGGGTC others(713): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0054 | 1 | 58 | 0.0172 | 720 | c.234 others(741): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(713): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18947.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0113a0001c0001t0001g0226 | 3 | 284 | 0.0106 | 720 | c.712 others(737): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882453 | C | CGGGAGAA others(713): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061a0001c0001t0002g0062 | 2 | 288 | 0.0069 | 720 | c.303 others(739): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(713): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp1 others(1): Show |
a0001a0002a0023 | a0001c0021a0002c0003a0002c0013others(1): Show | a0001c0021t0068a0002c0003t0078a0002c0013t0074others(1): Show | a0001c0021t0068g0081a0002c0003t0078g0287a0002c0013t0074g0286others(1): Show | 4 | 334 | 0.0120 | 720 | c.-25 others(731): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(713): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0230 | 1 | 334 | 0.0030 | 720 | c.-25 others(731): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(713): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 334 | 0.0030 | 720 | c.-25 others(731): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CFAP47_chrX_35914734_36390317 | 35966332 | T | TGCTAATA others(713): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0014 | a0014c0070 | a0014c0070t0001 | a0014c0070t0001g0138 | 1 | 216 | 0.0046 | 720 | c.141 others(737): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337644 | A | ATGGATAG others(713): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
a0002a0008 | a0002c0009a0008c0020 | a0002c0009t0001a0002c0009t0002a0002c0009t0003others(1): Show | a0002c0009t0001g0105a0002c0009t0002g0104a0002c0009t0002g0106others(2): Show | 5 | 236 | 0.0212 | 720 | c.342 others(739): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CHL1_chr3_191763_414417 | 262064 | T | TAGATCTA others(713): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0245 | 1 | 290 | 0.0035 | 720 | c.-95 others(739): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHTF18_chr16_783620_803074 | 795584 | G | GCCCCCCC others(713): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0052 | 1 | 428 | 0.0023 | 720 | c.217 others(735): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CLN6_chr15_68201992_68234728 | 68221745 | A | AAGCGCCT others(713): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 324 | 0.0031 | 720 | c.84- others(735): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 1/6 | chr15 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525250 | A | AGGACCCG others(713): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0038 | 1 | 236 | 0.0042 | 720 | c.361 others(739): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0249 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG00609.hp2 NA19001.hp2 NA19010.hp1 others(2): Show |
a0001 | a0001c0004a0001c0008a0001c0015others(1): Show | a0001c0004t0004a0001c0004t0040a0001c0008t0001others(2): Show | a0001c0004t0004g0291a0001c0004t0040g0050a0001c0008t0001g0108others(2): Show | 5 | 372 | 0.0134 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19084.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0363a0001c0014t0001g0194 | 2 | 372 | 0.0054 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0013 | a0002c0013t0005 | a0002c0013t0005g0188 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0013 | a0002c0013t0006 | a0002c0013t0006g0118 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0008 | a0008c0023 | a0008c0023t0001 | a0008c0023t0001g0262 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | NA18961.hp1 NA18975.hp2 |
a0002a0005 | a0002c0087a0005c0021 | a0002c0087t0001a0005c0021t0001 | a0002c0087t0001g0256a0005c0021t0001g0211 | 2 | 372 | 0.0054 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0002 | a0002c0062 | a0002c0062t0047 | a0002c0062t0047g0298 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0008 | a0008c0023 | a0008c0023t0002 | a0008c0023t0002g0312 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp2 |
a0001a0013 | a0001c0037a0013c0042 | a0001c0037t0005a0013c0042t0002 | a0001c0037t0005g0185a0013c0042t0002g0313a0013c0042t0002g0314 | 3 | 372 | 0.0081 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18986.hp2 |
a0004a0006 | a0004c0009a0006c0033 | a0004c0009t0003a0006c0033t0012 | a0004c0009t0003g0062a0006c0033t0012g0335 | 2 | 372 | 0.0054 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0182 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0008 | a0001c0008t0007 | a0001c0008t0007g0214 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL4A2_chr13_110302284_110518209 | 110385410 | T | TGTGGATA others(713): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0089 | 1 | 372 | 0.0027 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |