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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A2_chr21_46093112_46134801 | 46134443 | T | TAGGGTCA others(29): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0044 | 1 | 372 | 0.0027 | 36 | c.*49 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4643 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134491 | C | CAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA20805.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0198a0003c0004t0004g0219 | 2 | 372 | 0.0054 | 36 | c.*50 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4691 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134491 | C | CAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0045 | 1 | 372 | 0.0027 | 36 | c.*50 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4691 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134501 | G | GTCAGGTT others(29): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 NA19000.hp2 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0002 | a0001c0002t0002g0333a0003c0004t0002g0328 | 2 | 372 | 0.0054 | 36 | c.*50 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4701 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134605 | C | CAGGGTCA others(29): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0298 | 1 | 372 | 0.0027 | 36 | c.*51 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4805 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134641 | G | GAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02083.hp2 HG02965.hp1 others(3): Show |
a0001a0002a0003 | a0001c0006a0001c0022a0001c0026others(2): Show | a0001c0006t0008a0001c0022t0006a0001c0026t0006others(2): Show | a0001c0006t0008g0303a0001c0022t0006g0050a0001c0026t0006g0049others(3): Show | 6 | 372 | 0.0161 | 36 | c.*51 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4841 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46134801 | 46134671 | C | CAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 372 | 0.0027 | 36 | c.*51 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4871 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134443 | T | TAGGGTCA others(29): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0063 | a0003c0063t0001 | a0003c0063t0001g0046 | 1 | 364 | 0.0028 | 36 | c.*18 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1596 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134491 | C | CAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 NA20805.hp2 |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0194a0004c0005t0004g0215 | 2 | 364 | 0.0055 | 36 | c.*19 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1644 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134491 | C | CAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0047 | 1 | 364 | 0.0028 | 36 | c.*19 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1644 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134501 | G | GTCAGGTT others(29): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 NA19000.hp2 |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0009a0003c0010t0002 | a0001c0002t0009g0330a0003c0010t0002g0325 | 2 | 364 | 0.0055 | 36 | c.*19 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1654 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134605 | C | CAGGGTCA others(29): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0297 | 1 | 364 | 0.0028 | 36 | c.*20 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1758 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134641 | G | GAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02083.hp2 HG02965.hp1 others(2): Show |
a0001a0002a0003 | a0001c0007a0001c0035a0001c0045others(2): Show | a0001c0007t0001a0001c0035t0001a0001c0045t0001others(2): Show | a0001c0007t0001g0302a0001c0035t0001g0052a0001c0045t0001g0051others(2): Show | 5 | 364 | 0.0137 | 36 | c.*20 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1794 | chr21 | TogoVar | ||||||
COL6A2_chr21_46093112_46137848 | 46134671 | C | CAGGGTGA others(29): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 364 | 0.0028 | 36 | c.*21 others(47): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1824 | chr21 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99669146 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0150 | 1 | 262 | 0.0038 | 36 | c.-12 others(57): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL9A2_chr1_40295489_40322286 | 40318295 | C | CATACATA others(29): Show |
upstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 438 | 0.0023 | 36 | c.-10 others(47): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1010 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 homoSapiens_chm13v2.hp1 |
a0002a0007 | a0002c0002a0007c0009 | a0002c0002t0001a0007c0009t0001 | a0002c0002t0001g0117a0007c0009t0001g0028 | 2 | 438 | 0.0046 | 36 | c.-11 others(47): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 NA19012.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 2 | 438 | 0.0046 | 36 | c.-11 others(47): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(29): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0071 | 1 | 438 | 0.0023 | 36 | c.-11 others(47): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3647669 | C | CCTCTCCT others(29): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 378 | 0.0027 | 36 | c.*35 others(47): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3026 | chr2 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 312207 | G | GATATATA others(29): Show |
downstream_gene_variant | MODIFIER | HG01261.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0001a0002a0003 | a0001c0004a0002c0001a0003c0002 | a0001c0004t0243a0002c0001t0002a0002c0001t0073others(2): Show | a0001c0004t0243g0275a0002c0001t0002g0208a0002c0001t0073g0117others(2): Show | 5 | 366 | 0.0137 | 36 | c.*78 others(47): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 4529 | chr18 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116212522 | G | GTGTGTGT others(29): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01243.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089a0001c0002t0001g0127a0001c0002t0001g0142others(5): Show | 8 | 350 | 0.0229 | 36 | c.510 others(55): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62063868 | A | AATATATA others(29): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0159 | 2 | 286 | 0.0070 | 36 | c.462 others(55): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD1_chr2_61900674_62141058 | 62095807 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01358.hp2 HG01516.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0018others(21): Show | 24 | 286 | 0.0839 | 36 | c.463 others(55): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36270137 | T | TAGAGAGA others(29): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG03041.hp1 HG03130.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0005a0003c0003t0005 | a0001c0001t0003g0001a0001c0001t0003g0214a0001c0001t0005g0151others(1): Show | 4 | 448 | 0.0089 | 36 | c.*44 others(47): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 2154 | chr11 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40697851 | T | TATAGAGA others(29): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0224 | 1 | 410 | 0.0024 | 36 | c.114 others(55): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40697851 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0243 | 1 | 410 | 0.0024 | 36 | c.114 others(55): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
COQ8B_chr19_40686530_40721886 | 40697875 | G | GAGAGAGA others(29): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0261 | 1 | 410 | 0.0024 | 36 | c.114 others(55): Show |
COQ8B | ENSG00000123815.13 | transcript | ENST00000324464.8 | protein_coding | 12/14 | chr19 | TogoVar | ||||||
CORO2A_chr9_98115975_98197637 | 98154352 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | HG02300.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0093a0001c0001t0003g0281 | 2 | 342 | 0.0059 | 36 | c.201 others(53): Show |
CORO2A | ENSG00000106789.13 | transcript | ENST00000375077.5 | protein_coding | 2/11 | chr9 | TogoVar | ||||||
CPA2_chr7_130261863_130294798 | 130267773 | C | CTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 400 | 0.0025 | 36 | c.71+ others(49): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPA2_chr7_130261863_130294798 | 130267773 | C | CTCTTTCT others(29): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 2 | 400 | 0.0050 | 36 | c.71+ others(49): Show |
CPA2 | ENSG00000158516.12 | transcript | ENST00000222481.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPAMD8_chr19_16887951_17031810 | 17001457 | G | GGAGAGGA others(29): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00741.hp2 others(58): Show |
a0002a0007a0013others(33): Show | a0002c0017a0002c0018a0002c0019others(48): Show | a0002c0017t0001a0002c0018t0001a0002c0019t0001others(48): Show | a0002c0017t0001g0112a0002c0017t0001g0113a0002c0017t0001g0162others(58): Show | 61 | 278 | 0.2194 | 36 | c.758 others(51): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 9/41 | chr19 | TogoVar | ||||||
CPB2_chr13_46048186_46110033 | 46108157 | T | TTATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 NA18992.hp1 NA19005.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100a0002c0002t0002g0111a0002c0002t0002g0136 | 3 | 330 | 0.0091 | 36 | c.-31 others(47): Show |
CPB2 | ENSG00000080618.17 | transcript | ENST00000181383.10 | protein_coding | 3125 | chr13 | TogoVar | ||||||
CPEB3_chr10_92041692_92296078 | 92121349 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0193 | 1 | 278 | 0.0036 | 36 | c.145 others(57): Show |
CPEB3 | ENSG00000107864.15 | transcript | ENST00000265997.5 | protein_coding | 6/9 | chr10 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121117077 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0005 | 1 | 140 | 0.0071 | 36 | c.919 others(53): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 332 | 0.0030 | 36 | c.308 others(53): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(29): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0021a0001c0001t0001g0051others(1): Show | 4 | 332 | 0.0121 | 36 | c.308 others(53): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG others(29): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0019a0001c0001t0007g0320 | 2 | 416 | 0.0048 | 36 | c.-50 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG others(29): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0276 | 1 | 416 | 0.0024 | 36 | c.-50 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG others(29): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0334a0001c0001t0009g0303 | 2 | 416 | 0.0048 | 36 | c.-50 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826466 | C | CGGGGCGG others(29): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 416 | 0.0024 | 36 | c.-50 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 338 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826471 | C | CGGGGGCG others(29): Show |
upstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0317 | 1 | 416 | 0.0024 | 36 | c.-50 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 343 | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 826477 | C | CGGGGGTG others(29): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 416 | 0.0024 | 36 | c.-51 others(45): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 349 | chr4 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871410 | G | GGAGAGAG others(29): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 HG02523.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006 | a0001c0001t0002g0065a0001c0001t0003g0010a0001c0001t0003g0054others(1): Show | 4 | 378 | 0.0106 | 36 | c.-38 others(45): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 167 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871417 | G | GAGAGAGA others(29): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0025 | a0001c0001t0013g0007a0001c0001t0025g0007 | 2 | 378 | 0.0053 | 36 | c.-37 others(45): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 160 | chr5 | TogoVar | ||||||
CPLX2_chr5_175866578_175889021 | 175871458 | A | AGAGAGAG others(29): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 378 | 0.0027 | 36 | c.-33 others(45): Show |
CPLX2 | ENSG00000145920.15 | transcript | ENST00000393745.8 | protein_coding | 119 | chr5 | TogoVar | ||||||
CPM_chr12_68846175_68938171 | 68847196 | T | TTATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0152 | 2 | 340 | 0.0059 | 36 | c.*92 others(47): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 3978 | chr12 | TogoVar | ||||||
CPNE3_chr8_86509435_86566498 | 86524848 | T | TTTTCTTT others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01070.hp1 others(14): Show |
a0001a0002a0007others(1): Show | a0001c0002a0002c0005a0007c0011others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0303a0001c0002t0001g0310a0001c0002t0002g0309others(14): Show | 17 | 340 | 0.0500 | 36 | c.-10 others(53): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131801335 | A | ACATATAT others(29): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 94 | 0.0106 | 36 | c.181 others(55): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978428 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01081.hp1 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0050others(12): Show | 15 | 94 | 0.1596 | 36 | c.-2+ others(53): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar |