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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATP9B_chr18_79064394_79383283 | 79308963 | T | TGAGGAGT others(713): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02572.hp2 HG02818.hp2 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 |
3 | 267 | 0.0112 | 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 | 164 | 0.0061 | 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 | a0001c0002t0001g0004 | 1 | 299 | 0.0033 | 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 | 267 | 0.0037 | 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 | a0001c0001t0001g0043 | 1 | 287 | 0.0035 | 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 | a0001c0005t0004g0107 | 1 | 401 | 0.0025 | 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 |
a0003a0044 | a0003c0004a0044c0088 | a0003c0004t0001a0044c0088t0001 | a0003c0004t0001g0146 a0003c0004t0001g0192 a0044c0088t0001g0159 |
3 | 11 | 0.2727 | 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 | 233 | 0.0043 | 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 | a0001c0001t0001g0185 a0001c0001t0001g0307 |
2 | 104 | 0.0192 | 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 | a0004c0010t0001g0080 | 1 | 286 | 0.0035 | 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 | 5 | 0.2000 | 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 | a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0223 |
3 | 6 | 0.5000 | 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 | a0001c0001t0002g0061 a0001c0001t0002g0062 |
2 | 141 | 0.0142 | 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 |
a0001a0002a0021 | a0001c0021a0002c0003a0002c0013others(1): Show | a0001c0021t0068a0002c0003t0078a0002c0013t0074others(1): Show | a0001c0021t0068g0084 a0002c0003t0078g0287 a0002c0013t0074g0286 others(1): Show |
4 | 69 | 0.0580 | 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 | 66 | 0.0152 | 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 | 66 | 0.0152 | 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 | a0017 | a0017c0066 | a0017c0066t0001 | a0017c0066t0001g0137 | 1 | 210 | 0.0048 | 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 |
a0002a0010 | a0002c0009a0010c0020 | a0002c0009t0001a0002c0009t0002a0002c0009t0003others(1): Show | a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 others(2): Show |
5 | 135 | 0.0370 | 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 | 284 | 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 | a0003c0003t0001g0062 | 1 | 220 | 0.0045 | 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 | a0001c0001t0001g0139 | 1 | 322 | 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 | 173 | 0.0058 | 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 | 301 | 0.0033 | 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 | a0001c0004t0004g0291 a0001c0004t0040g0050 a0001c0008t0001g0108 others(2): Show |
5 | 305 | 0.0164 | 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 | a0001c0001t0001g0363 a0001c0014t0001g0194 |
2 | 302 | 0.0066 | 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 | 301 | 0.0033 | 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 | 301 | 0.0033 | 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 | 301 | 0.0033 | 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 | a0002c0087t0001g0257 a0005c0021t0001g0211 |
2 | 302 | 0.0066 | 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 | a0002c0062t0047g0299 | 1 | 301 | 0.0033 | 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 | a0008c0023t0002g0313 | 1 | 301 | 0.0033 | 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 |
a0001a0010 | a0001c0037a0010c0042 | a0001c0037t0005a0010c0042t0002 | a0001c0037t0005g0185 a0010c0042t0002g0314 a0010c0042t0002g0315 |
3 | 303 | 0.0099 | 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 | a0004c0009t0003g0062 a0006c0033t0012g0336 |
2 | 302 | 0.0066 | 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 | 301 | 0.0033 | 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 | 301 | 0.0033 | 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 | 301 | 0.0033 | 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 | HG01099.hp1 HG01496.hp1 HG02004.hp2 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0091 others(20): Show |
23 | 323 | 0.0712 | 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 | HG03710.hp2 | a0004 | a0004c0030 | a0004c0030t0001 | a0004c0030t0001g0179 | 1 | 301 | 0.0033 | 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.hp1 HG02056.hp1 HG02080.hp1 others(4): Show |
a0001a0006a0017 | a0001c0001a0001c0004a0001c0025others(3): Show | a0001c0001t0004a0001c0001t0006a0001c0004t0003others(4): Show | a0001c0001t0004g0290 a0001c0001t0006g0047 a0001c0004t0003g0058 others(4): Show |
7 | 307 | 0.0228 | 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 | HG00423.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0093 | 1 | 301 | 0.0033 | 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 | HG03225.hp1 | a0002 | a0002c0019 | a0002c0019t0006 | a0002c0019t0006g0131 | 1 | 301 | 0.0033 | 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 | HG03516.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 301 | 0.0033 | 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 | NA18955.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0244 | 1 | 301 | 0.0033 | 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 | 110385546 | T | TTACAGTG others(713): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0008 | a0008c0023 | a0008c0023t0009 | a0008c0023t0009g0015 | 1 | 134 | 0.0075 | 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 | 110385930 | T | TTACAGTG others(713): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0010a0001c0014t0026 | a0001c0001t0010g0036 a0001c0014t0026g0156 |
2 | 185 | 0.0108 | 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 | 110385930 | T | TTACAGTG others(713): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0343 | 1 | 184 | 0.0054 | 720 | c.180 others(739): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(713): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 177 | 0.0056 | 720 | c.925 others(735): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978243 | T | TTATATAT others(713): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 90 | 0.0111 | 720 | c.-2+ others(737): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240977880 | A | AGGAGCCC others(713): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0010 | a0010c0048 | a0010c0048t0001 | a0010c0048t0001g0202 | 1 | 342 | 0.0029 | 720 | c.440 others(739): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240980494 | T | TCCCAGGC others(713): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 168 | 0.0060 | 720 | c.440 others(739): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |