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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(832): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0041 | 1 | 2 | 0.5000 | 839 | c.-12 others(858): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(832): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03209.hp1 |
a0003 | a0003c0014 | a0003c0014t0031 | a0003c0014t0031g0019 a0003c0014t0031g0022 |
2 | 43 | 0.0465 | 839 | c.916 others(856): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(832): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0032 | 1 | 42 | 0.0238 | 839 | c.916 others(856): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 434567 | A | AGTGAGAT others(832): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0006a0001c0005t0006a0003c0008t0006 | a0001c0001t0006g0042 a0001c0001t0006g0048 a0001c0001t0006g0052 others(2): Show |
5 | 6 | 0.8333 | 839 | c.111 others(856): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92047039 | T | TATAAATA others(832): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 162 | 0.0062 | 839 | c.647 others(858): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(832): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0104 | 1 | 2 | 0.5000 | 839 | c.227 others(858): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852527 | C | CCACCCCC others(832): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0343 | 1 | 254 | 0.0039 | 839 | c.646 others(856): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377604 | T | TCTCCCCT others(832): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0005 | a0005c0010 | a0005c0010t0002 | a0005c0010t0002g0081 | 1 | 82 | 0.0122 | 839 | c.-25 others(858): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939654 | A | AACACACA others(832): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 124 | 0.0081 | 839 | c.*11 others(850): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 953 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(832): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 298 | 0.0034 | 839 | c.-23 others(856): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(832): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0106 | 1 | 98 | 0.0102 | 839 | c.41- others(856): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530465 | T | TAATAATA others(832): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 83 | 0.0120 | 839 | c.392 others(856): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975252 | T | TATATTTA others(833): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0003 | a0003c0051 | a0003c0051t0001 | a0003c0051t0001g0077 | 1 | 153 | 0.0065 | 840 | c.130 others(859): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111499 | A | AACCTGCC others(833): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0317 | 1 | 197 | 0.0051 | 840 | c.401 others(857): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111870 | T | TCCAGACC others(833): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0309 | 1 | 229 | 0.0044 | 840 | c.401 others(857): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133112019 | A | ACACCTCC others(833): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0033 | 1 | 216 | 0.0046 | 840 | c.401 others(857): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864141 | A | ACCTTCCC others(833): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18994.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0171 a0001c0003t0002g0183 |
2 | 162 | 0.0123 | 840 | c.225 others(857): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864141 | A | ACCTTCCC others(833): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0174 | 1 | 161 | 0.0062 | 840 | c.225 others(857): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9406508 | C | CGTCTTCC others(833): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0171 | 1 | 171 | 0.0058 | 840 | c.*31 others(851): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 831 | chr2 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(833): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031 | 1 | 223 | 0.0045 | 840 | c.*36 others(851): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0202 | 1 | 246 | 0.0041 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 246 | 0.0041 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 246 | 0.0041 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078446 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0122 | 1 | 246 | 0.0041 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3376 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078476 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 295 | 0.0034 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3346 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078476 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0225 | 1 | 295 | 0.0034 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3346 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078476 | G | GGCTGAGG others(833): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 a0001c0001t0003g0297 |
2 | 296 | 0.0068 | 840 | c.*44 others(851): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3346 | chr1 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218540 | G | GCTCCCGC others(833): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0077 | 1 | 177 | 0.0056 | 840 | c.108 others(859): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44182166 | T | TCACACAC others(833): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 37 | 0.0270 | 840 | c.193 others(857): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82215697 | C | CCCCCACA others(833): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0083 | 1 | 56 | 0.0179 | 840 | c.-29 others(851): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 2856 | chr17 | TogoVar | |||||||
CDH23_chr10_71391920_71820947 | 71688911 | C | CCAGGGGT others(833): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0102 | a0102c0083 | a0102c0083t0016 | a0102c0083t0016g0145 | 1 | 83 | 0.0120 | 840 | c.205 others(859): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 19/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(833): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18987.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0026g0134 |
3 | 40 | 0.0750 | 840 | c.248 others(857): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337562 | A | ATGGATGG others(833): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0014 | a0014c0030 | a0014c0030t0002 | a0014c0030t0002g0056 | 1 | 168 | 0.0060 | 840 | c.342 others(859): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356591 | T | TGAGGGGA others(833): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02056.hp2 HG02280.hp1 others(4): Show |
a0001a0002a0024 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0082 a0001c0001t0001g0154 a0001c0001t0001g0183 others(4): Show |
7 | 221 | 0.0317 | 840 | c.351 others(859): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356591 | T | TGAGGGGA others(833): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 215 | 0.0047 | 840 | c.351 others(859): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648069 | G | GACCCAGT others(833): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 298 | 0.0034 | 840 | c.253 others(855): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(833): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0223 | 1 | 2 | 0.5000 | 840 | c.162 others(861): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178525070 | A | AGGACCCG others(833): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0211 | 1 | 216 | 0.0046 | 840 | c.361 others(859): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178525250 | A | AGGACCCG others(833): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0096 | 1 | 173 | 0.0058 | 840 | c.361 others(859): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0186 | 1 | 134 | 0.0075 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02109.hp2 others(2): Show |
a0001a0003 | a0001c0016a0003c0007a0003c0018 | a0001c0016t0007a0003c0007t0006a0003c0007t0020others(1): Show | a0001c0016t0007g0224 a0001c0016t0007g0225 a0003c0007t0006g0119 others(2): Show |
5 | 138 | 0.0362 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0007 | a0003c0007t0030 | a0003c0007t0030g0352 | 1 | 134 | 0.0075 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 |
a0001a0003 | a0001c0001a0003c0105 | a0001c0001t0001a0003c0105t0011 | a0001c0001t0001g0001 a0003c0105t0011g0168 |
3 | 136 | 0.0221 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0010 | a0003c0010t0004 | a0003c0010t0004g0002 | 2 | 135 | 0.0148 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0347 | 1 | 134 | 0.0075 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0007 | a0003c0007t0005 | a0003c0007t0005g0169 | 1 | 134 | 0.0075 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0140 | 1 | 245 | 0.0041 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(833): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01257.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0037a0001c0046others(12): Show | a0001c0001t0003a0001c0037t0020a0001c0046t0009others(14): Show | a0001c0001t0003g0124 a0001c0037t0020g0069 a0001c0046t0009g0171 others(15): Show |
18 | 262 | 0.0687 | 840 | c.180 others(859): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(833): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01106.hp1 others(29): Show |
a0001a0008a0013 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(24): Show | a0001c0001t0001g0212 a0001c0001t0002g0243 a0001c0001t0009g0109 others(28): Show |
32 | 34 | 0.9412 | 840 | c.110 others(857): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134685430 | C | CCATCCAT others(833): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0064a0001c0065 | a0001c0001t0004a0001c0064t0019a0001c0065t0003 | a0001c0001t0004g0102 a0001c0064t0019g0010 a0001c0065t0003g0009 |
3 | 5 | 0.6000 | 840 | c.110 others(857): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |