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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL9A3_chr20_62812050_62846159 | 62839641 | A | ATGCCCTG others(41): Show |
intron_variant | MODIFIER | HG00639.hp1 NA18954.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0338 a0001c0005t0001g0319 |
2 | 230 | 0.0087 | 48 | c.186 others(65): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3590655 | G | GGGGGGCT others(41): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01081.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show |
17 | 376 | 0.0452 | 48 | c.-45 others(59): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4456 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3590664 | A | ATCCCCCC others(41): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 others(15): Show |
18 | 178 | 0.1011 | 48 | c.-45 others(59): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4447 | chr2 | TogoVar | |||||||
COLQ_chr3_15445133_15526706 | 15445712 | T | TTAGCAGA others(41): Show |
downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 380 | 0.0026 | 48 | c.*58 others(59): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 4420 | chr3 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116158501 | T | TCTCCTCT others(41): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 200 | 0.0050 | 48 | c.510 others(67): 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(41): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 24 | 0.0417 | 48 | c.462 others(67): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 62095809 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0272 | 1 | 284 | 0.0035 | 48 | c.463 others(67): 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(41): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0019 a0001c0001t0005g0038 |
2 | 41 | 0.0488 | 48 | c.*44 others(59): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 2154 | chr11 | TogoVar | |||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAAGAAA others(41): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0203 | 1 | 146 | 0.0068 | 48 | c.735 others(63): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | |||||||
COPZ2_chr17_48021167_48042797 | 48025459 | G | GGACGTGA others(41): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 394 | 0.0025 | 48 | c.*96 others(57): Show |
COPZ2 | ENSG00000005243.10 | transcript | ENST00000621465.5 | protein_coding | 707 | chr17 | TogoVar | |||||||
COQ8A_chr1_226935294_226992544 | 226955998 | A | ACACTCTC others(41): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 410 | 0.0024 | 48 | c.-9- others(63): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG01361.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0307 |
2 | 150 | 0.0133 | 48 | c.308 others(65): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPLX1_chr4_779957_831129 | 825979 | G | GCCGGGCC others(41): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0348 | 1 | 16 | 0.0625 | 48 | c.-80 others(61): Show |
CPLX1 | ENSG00000168993.15 | transcript | ENST00000304062.11 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
CPNE3_chr8_86509435_86566498 | 86524848 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0300 a0001c0002t0004g0336 a0001c0002t0006g0292 |
3 | 136 | 0.0221 | 48 | c.-10 others(65): Show |
CPNE3 | ENSG00000085719.13 | transcript | ENST00000517490.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587785 | C | CCGTGTCA others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 268 | 0.0037 | 48 | c.927 others(63): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587951 | C | CCGTGTCA others(41): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19005.hp1 |
a0002a0010 | a0002c0003a0010c0016 | a0002c0003t0003a0010c0016t0003 | a0002c0003t0003g0113 a0010c0016t0003g0114 |
2 | 270 | 0.0074 | 48 | c.928 others(63): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587977 | C | CCATGTCA others(41): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 272 | 0.0037 | 48 | c.928 others(63): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89588069 | C | CGTGTCAC others(41): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 283 | 0.0035 | 48 | c.928 others(63): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588069 | C | CGTGTCAC others(41): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 283 | 0.0035 | 48 | c.928 others(63): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | chr16 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588095 | C | CCGTGTCA others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0307 a0001c0002t0005g0283 |
2 | 233 | 0.0086 | 48 | c.928 others(63): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPO_chr2_206934518_206974474 | 206935784 | C | CCCATCCA others(41): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(94): Show |
a0001a0002a0007 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0042 others(78): Show |
97 | 361 | 0.2687 | 48 | c.-38 others(59): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 3733 | chr2 | TogoVar | |||||||
CPPED1_chr16_12654799_12808887 | 12766256 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 248 | 0.0040 | 48 | c.289 others(67): Show |
CPPED1 | ENSG00000103381.12 | transcript | ENST00000381774.9 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
CPS1_chr2_210551599_210684107 | 210564100 | C | CCCTAAAA others(41): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0324 | 1 | 338 | 0.0030 | 48 | c.126 others(65): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPS1_chr2_210551599_210684107 | 210597829 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0009 | a0002c0009t0003 | a0002c0009t0003g0159 | 1 | 334 | 0.0030 | 48 | c.136 others(67): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF6_chr12_69234569_69279358 | 69236456 | T | TTATATAT others(41): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 371 | 0.0027 | 48 | c.-31 others(59): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3112 | chr12 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49702025 | T | TAAATATA others(41): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 285 | 0.0035 | 48 | c.693 others(63): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | chr19 | TogoVar | |||||||
CPTP_chr1_1319802_1333896 | 1324172 | G | GGGGCTCG others(41): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0001 a0001c0001t0023g0001 |
26 | 153 | 0.1699 | 48 | c.-10 others(59): Show |
CPTP | ENSG00000224051.7 | transcript | ENST00000343938.9 | protein_coding | 629 | chr1 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8605634 | T | TATCCATC others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 NA21309.hp1 |
a0001a0004 | a0001c0058a0004c0017 | a0001c0058t0002a0004c0017t0002 | a0001c0058t0002g0070 a0004c0017t0002g0218 |
2 | 338 | 0.0059 | 48 | c.710 others(63): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8605634 | T | TATCCATT others(41): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0261 | 1 | 337 | 0.0030 | 48 | c.710 others(63): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8605634 | T | TATCCATT others(41): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01433.hp1 others(6): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0012a0002c0009others(3): Show | a0001c0001t0001a0001c0012t0002a0002c0009t0002others(3): Show | a0001c0001t0001g0110 a0001c0001t0001g0168 a0001c0012t0002g0036 others(5): Show |
9 | 345 | 0.0261 | 48 | c.710 others(63): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CRACDL_chr2_98788846_98941225 | 98795040 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0032 | 1 | 285 | 0.0035 | 48 | c.275 others(65): Show |
CRACDL | ENSG00000196872.12 | transcript | ENST00000397899.7 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
CRB2_chr9_123351197_123383753 | 123364312 | G | GGTTGTTC others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02109.hp2 others(8): Show |
a0002a0006a0010others(2): Show | a0002c0036a0002c0037a0002c0042others(4): Show | a0002c0036t0013a0002c0037t0024a0002c0042t0013others(5): Show | a0002c0036t0013g0170 a0002c0037t0024g0103 a0002c0042t0013g0171 others(6): Show |
11 | 430 | 0.0256 | 48 | c.418 others(65): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123364318 | T | TCGGGCAG others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
a0001a0002a0007others(5): Show | a0001c0005a0002c0001a0002c0021others(13): Show | a0001c0005t0001a0002c0001t0001a0002c0001t0002others(16): Show | a0001c0005t0001g0222 a0002c0001t0001g0001 a0002c0001t0001g0006 others(59): Show |
110 | 430 | 0.2558 | 48 | c.418 others(65): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRB2_chr9_123351197_123383753 | 123364322 | G | GCAGTGGG others(41): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0033 | a0002c0033t0002 | a0002c0033t0002g0065 | 1 | 430 | 0.0023 | 48 | c.418 others(65): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CREB3L2_chr7_137869979_138007086 | 137899096 | A | AGAAGGAA others(41): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0032 | 1 | 155 | 0.0065 | 48 | c.104 others(67): Show |
CREB3L2 | ENSG00000182158.16 | transcript | ENST00000330387.11 | protein_coding | 8/11 | chr7 | TogoVar | |||||||
CREB3L3_chr19_4148631_4178054 | 4163351 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0034 | 1 | 242 | 0.0041 | 48 | c.577 others(65): Show |
CREB3L3 | ENSG00000060566.14 | transcript | ENST00000078445.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28560969 | T | TGTGTGCG others(41): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0114 | 1 | 113 | 0.0088 | 48 | c.292 others(65): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREB5_chr7_28407518_28830894 | 28561011 | T | TGTGCGCG others(41): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0119 | 1 | 175 | 0.0057 | 48 | c.292 others(65): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CCTTTCTT others(41): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 110 | 0.0091 | 48 | c.853 others(63): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCCTT others(41): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0031 | a0002c0031t0007 | a0002c0031t0007g0154 | 1 | 110 | 0.0091 | 48 | c.853 others(63): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 |
a0008a0009 | a0008c0026a0009c0020 | a0008c0026t0006a0009c0020t0006 | a0008c0026t0006g0037 a0009c0020t0006g0013 |
2 | 111 | 0.0180 | 48 | c.853 others(63): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240904603 | T | TCACAGGT others(41): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0020a0001c0022others(23): Show | a0001c0001t0002a0001c0001t0004a0001c0020t0002others(24): Show | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 others(98): Show |
101 | 344 | 0.2936 | 48 | c.-19 others(59): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1732 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240904616 | C | CGGATGCC others(41): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(162): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0020a0001c0024others(52): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0133 others(161): Show |
165 | 232 | 0.7112 | 48 | c.-18 others(59): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1719 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240904616 | C | CGGATGCC others(41): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02723.hp1 others(5): Show |
a0011a0014a0023others(4): Show | a0011c0043a0014c0014a0023c0055others(4): Show | a0011c0043t0001a0014c0014t0001a0023c0055t0001others(4): Show | a0011c0043t0001g0017 a0014c0014t0001g0019 a0014c0014t0001g0023 others(5): Show |
8 | 75 | 0.1067 | 48 | c.-18 others(59): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1719 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240904641 | G | GCCCTGCC others(41): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0015 | a0015c0015 | a0015c0015t0001 | a0015c0015t0001g0030 | 1 | 69 | 0.0145 | 48 | c.-18 others(59): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1694 | chr2 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 10 | 0.1000 | 48 | c.684 others(67): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0036 | a0001c0001t0028g0016 a0001c0001t0036g0018 |
2 | 11 | 0.1818 | 48 | c.684 others(67): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02615.hp2 NA18984.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0001a0002c0002t0031 | a0001c0001t0004g0006 a0002c0002t0001g0225 a0002c0002t0031g0235 |
3 | 12 | 0.2500 | 48 | c.684 others(67): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647496 | T | TTGTCCTC others(41): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0133 | 1 | 261 | 0.0038 | 48 | c.*53 others(59): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2152 | chr15 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106361953 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp2 HG01099.hp1 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0022a0002c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0114 a0001c0001t0001g0119 others(18): Show |
21 | 203 | 0.1034 | 48 | c.173 others(63): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |