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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRK_chr17_1415693_1461232 | 1427030 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0038 | a0001c0002t0038g0044 | 1 | 404 | 0.0025 | 19 | c.778 others(36): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1212969 | T | TCCCTCCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02976.hp2 HG03453.hp2 |
a0001a0013a0015 | a0001c0002a0013c0023a0015c0029 | a0001c0002t0002a0013c0023t0006a0015c0029t0003 | a0001c0002t0002g0022a0013c0023t0006g0023a0015c0029t0003g0025 | 3 | 167 | 0.0180 | 19 | c.-33 others(28): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 321 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1212974 | C | CCCCTTTT others(12): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 | 1 | 167 | 0.0060 | 19 | c.-34 others(28): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 326 | chrX | TogoVar | ||||||
CRLF2_chrX_1185490_1217649 | 1213245 | T | TCCCCTCC others(12): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0091 | 1 | 167 | 0.0060 | 19 | c.-61 others(28): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 597 | chrX | TogoVar | ||||||
CRLS1_chr20_6001123_6045053 | 6011572 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG01167.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0001g0032others(14): Show | 21 | 366 | 0.0574 | 19 | c.444 others(36): Show |
CRLS1 | ENSG00000088766.12 | transcript | ENST00000378863.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CRMP1_chr4_5815764_5898086 | 5837654 | A | AAAATAAA others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01071.hp1 others(21): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(6): Show | a0001c0002t0001g0069a0001c0002t0002g0002a0001c0002t0002g0004others(19): Show | 24 | 314 | 0.0764 | 19 | c.131 others(36): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 9/13 | chr4 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240923783 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0057 | a0057c0031 | a0057c0031t0001 | a0057c0031t0001g0107 | 1 | 350 | 0.0029 | 19 | c.488 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923800 | G | GCCCCCAA others(12): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0032 | a0032c0051 | a0032c0051t0001 | a0032c0051t0001g0073 | 1 | 350 | 0.0029 | 19 | c.488 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923905 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0251 | 1 | 350 | 0.0029 | 19 | c.488 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240923922 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 350 | 0.0029 | 19 | c.488 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924220 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp2 |
a0020a0058 | a0020c0028a0058c0027 | a0020c0028t0001a0058c0027t0003 | a0020c0028t0001g0027a0058c0027t0003g0026 | 2 | 350 | 0.0057 | 19 | c.489 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924272 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0060 | a0001c0060t0001 | a0001c0060t0001g0150 | 1 | 350 | 0.0029 | 19 | c.489 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924444 | G | GCCCCTCA others(12): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0222 | 1 | 350 | 0.0029 | 19 | c.489 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924512 | C | CAGCCCCC others(12): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0301 | 1 | 350 | 0.0029 | 19 | c.489 others(36): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924814 | C | CTCACACT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp1 |
a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0238a0001c0024t0002g0342 | 2 | 350 | 0.0057 | 19 | c.489 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240924878 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(24): Show |
a0001a0002a0008others(5): Show | a0001c0001a0001c0022a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0156a0001c0001t0001g0191a0001c0001t0002g0277others(24): Show | 27 | 350 | 0.0771 | 19 | c.489 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924878 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 350 | 0.0029 | 19 | c.489 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CROCC2_chr2_240901336_240998311 | 240924912 | G | GCCCCCCA others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 350 | 0.0029 | 19 | c.489 others(34): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16387066 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 290 | 0.0035 | 19 | c.535 others(38): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389913 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG04199.hp1 NA18946.hp1 NA18966.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0167a0001c0001t0004g0197a0001c0001t0005g0190others(3): Show | 6 | 290 | 0.0207 | 19 | c.535 others(38): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03098.hp1 NA19062.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0174a0001c0001t0005g0169a0001c0001t0006g0157others(1): Show | 4 | 290 | 0.0138 | 19 | c.535 others(38): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0043 | 1 | 290 | 0.0035 | 19 | c.535 others(38): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 204 | 0.0049 | 19 | c.224 others(36): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016 | 1 | 204 | 0.0049 | 19 | c.224 others(36): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03225.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0022a0001c0004t0001g0007 | 2 | 204 | 0.0098 | 19 | c.224 others(36): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122875438 | A | ATATATAT others(12): Show |
downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002 | 1 | 428 | 0.0023 | 19 | c.*40 others(30): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2796 | chr11 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02965.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0128a0001c0001t0001g0129a0001c0001t0001g0219others(1): Show | 4 | 274 | 0.0146 | 19 | c.127 others(38): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 274 | 0.0037 | 19 | c.*93 others(30): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90641685 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0025 | 1 | 276 | 0.0036 | 19 | c.165 others(36): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647303 | A | ACCCCTAC others(12): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG04199.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0038a0001c0001t0001g0039a0002c0002t0001g0193 | 3 | 276 | 0.0109 | 19 | c.*51 others(30): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1959 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647482 | C | CTCCTCCA others(12): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 276 | 0.0073 | 19 | c.*53 others(30): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2138 | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47835620 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0274 | 1 | 344 | 0.0029 | 19 | c.101 others(34): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47844574 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0286 | 1 | 344 | 0.0029 | 19 | c.*46 others(30): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1251 | chr19 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45844931 | T | TAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010a0001c0001t0006g0104 | 2 | 368 | 0.0054 | 19 | c.-25 others(30): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2543 | chr11 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAAGAAAG others(12): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 464 | 0.0022 | 19 | c.-91 others(28): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106361970 | T | TTTCTTTC others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG02280.hp1 |
a0002a0025 | a0002c0003a0025c0062 | a0002c0003t0006a0002c0003t0010a0025c0062t0015 | a0002c0003t0006g0233a0002c0003t0010g0234a0025c0062t0015g0232 | 3 | 272 | 0.0110 | 19 | c.173 others(34): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0007 | a0007c0007t0003 | a0007c0007t0003g0270 | 1 | 272 | 0.0037 | 19 | c.173 others(38): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422340 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0028 | a0028c0043 | a0028c0043t0013 | a0028c0043t0013g0230 | 1 | 272 | 0.0037 | 19 | c.174 others(38): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG2_chr1_26316865_26359130 | 26333014 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01258.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136a0002c0002t0001g0151a0002c0002t0001g0177 | 3 | 376 | 0.0080 | 19 | c.418 others(38): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG03491.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0004a0001c0003t0001g0007a0001c0003t0001g0076 | 4 | 452 | 0.0089 | 19 | c.*17 others(30): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01261.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0201a0001c0002t0001g0208 | 2 | 250 | 0.0080 | 19 | c.634 others(36): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017a0001c0003t0001g0018 | 2 | 250 | 0.0080 | 19 | c.634 others(36): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG06807.hp1 NA20752.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0128a0001c0001t0001g0130 | 3 | 250 | 0.0120 | 19 | c.634 others(36): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20470910 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 250 | 0.0040 | 19 | c.276 others(38): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03492.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332a0001c0001t0001g0333 | 2 | 360 | 0.0056 | 19 | c.332 others(36): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184114 | G | GTGTGTGT others(12): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 19 | c.-34 others(30): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150084396 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0158 | 1 | 406 | 0.0025 | 19 | c.49+ others(34): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG01109.hp2 others(32): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0002g0342a0001c0001t0004g0333a0001c0001t0005g0324others(31): Show | 35 | 406 | 0.0862 | 19 | c.49+ others(34): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314264 | A | ACAGCATC others(12): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00639.hp1 others(56): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0053others(56): Show | 59 | 159 | 0.3711 | 19 | c.*47 others(30): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4330 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314268 | C | CATCTGCC others(12): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0117a0001c0001t0004g0154 | 2 | 159 | 0.0126 | 19 | c.*47 others(30): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4334 | chrX | TogoVar |