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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTC1_chr19_18678680_18787333 | 18786763 | C | CTTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 274 | 0.0037 | 20 | c.*93 others(31): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90567691 | A | AAAATAAA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01074.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 others(22): Show |
25 | 276 | 0.0906 | 20 | c.232 others(39): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90630756 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0068 | 1 | 276 | 0.0036 | 20 | c.126 others(39): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107009563 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0011 | 1 | 320 | 0.0031 | 20 | c.268 others(37): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
CRY1_chr12_106986364_107098549 | 107062033 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0269 a0001c0002t0003g0208 |
2 | 320 | 0.0063 | 20 | c.158 others(39): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
CRYBA4_chr22_26616963_26635669 | 26627334 | C | CCCCTCCC others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01258.hp1 HG03704.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0190 a0001c0001t0001g0220 others(5): Show |
10 | 402 | 0.0249 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02486.hp1 HG02738.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 others(1): Show |
4 | 402 | 0.0100 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0077 |
2 | 402 | 0.0050 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0082 |
2 | 402 | 0.0050 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 402 | 0.0025 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCCT others(13): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 402 | 0.0025 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | C | CCCTCCTT others(13): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 402 | 0.0025 | 20 | c.301 others(35): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAAGAAAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 NA19030.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0158 a0002c0003t0001g0140 |
2 | 464 | 0.0043 | 20 | c.-91 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 464 | 0.0022 | 20 | c.-91 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218820 | A | AAGAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01346.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0197 |
3 | 464 | 0.0065 | 20 | c.-87 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 818 | chr22 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25218847 | A | AGAAAGAA others(13): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02132.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0034 others(15): Show |
29 | 464 | 0.0625 | 20 | c.-84 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 791 | chr22 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG03098.hp2 |
a0013a0044a0048 | a0013c0017a0044c0082a0048c0035 | a0013c0017t0002a0044c0082t0001a0048c0035t0007 | a0013c0017t0002g0222 a0044c0082t0001g0237 a0048c0035t0007g0240 |
3 | 272 | 0.0110 | 20 | c.173 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422321 | G | GTTATTTA others(13): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01243.hp2 HG01891.hp2 others(21): Show |
a0002a0005a0007others(15): Show | a0002c0003a0005c0005a0007c0006others(15): Show | a0002c0003t0006a0005c0005t0008a0007c0006t0003others(16): Show | a0002c0003t0006g0052 a0005c0005t0008g0185 a0005c0005t0008g0243 others(21): Show |
24 | 272 | 0.0882 | 20 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01891.hp1 HG02145.hp2 |
a0007a0008a0036 | a0007c0006a0008c0010a0036c0049 | a0007c0006t0012a0008c0010t0004a0036c0049t0001 | a0007c0006t0012g0158 a0008c0010t0004g0178 a0036c0049t0001g0189 |
3 | 272 | 0.0110 | 20 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00733.hp1 others(54): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0002c0003others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0026 others(54): Show |
57 | 272 | 0.2096 | 20 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01074.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0009a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0001t0001g0058 others(28): Show |
31 | 272 | 0.1140 | 20 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106422344 | A | ATTTATTT others(13): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18946.hp1 NA18956.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0022a0006c0007 | a0001c0001t0001a0001c0022t0002a0006c0007t0004 | a0001c0001t0001g0032 a0001c0001t0001g0105 a0001c0022t0002g0126 others(1): Show |
4 | 272 | 0.0147 | 20 | c.174 others(39): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106447547 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 272 | 0.0037 | 20 | c.174 others(37): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97946586 | G | GTATATAT others(13): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0030 | a0030c0054 | a0030c0054t0011 | a0030c0054t0011g0258 | 1 | 316 | 0.0032 | 20 | c.*32 others(31): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1603 | chr3 | TogoVar | |||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG00741.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0057 a0001c0001t0002g0122 others(3): Show |
11 | 452 | 0.0243 | 20 | c.*17 others(31): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20466682 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0002t0001a0001c0005t0001 | a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0002t0001g0083 others(2): Show |
5 | 250 | 0.0200 | 20 | c.276 others(39): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20485685 | T | TAGAAAAG others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01934.hp1 HG01975.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0112 a0001c0001t0001g0118 others(15): Show |
18 | 250 | 0.0720 | 20 | c.276 others(37): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02922.hp1 HG03017.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045 a0001c0001t0001g0211 a0001c0001t0001g0216 others(5): Show |
8 | 360 | 0.0222 | 20 | c.332 others(37): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74702963 | T | TGTGTGTG others(13): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0005 | 1 | 372 | 0.0027 | 20 | c.*33 others(31): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 2522 | chr1 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184114 | G | GGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 334 | 0.0030 | 20 | c.-34 others(31): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184150 | T | TGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 334 | 0.0030 | 20 | c.-35 others(31): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3226 | chr12 | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152729992 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01243.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0101 others(4): Show |
14 | 318 | 0.0440 | 20 | c.17- others(35): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152730009 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 2 | 318 | 0.0063 | 20 | c.17- others(35): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 2/3 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709605 | A | AAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 211 | 0.0047 | 20 | c.-51 others(29): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 333 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152709629 | G | GAGAGAGA others(13): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 211 | 0.0047 | 20 | c.-51 others(29): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 357 | chrX | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0362 | 1 | 386 | 0.0026 | 20 | c.-12 others(37): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49065313 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0033 a0001c0001t0005g0012 |
2 | 386 | 0.0052 | 20 | c.229 others(35): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150083349 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0002c0003t0001 | a0001c0001t0006g0082 a0002c0003t0001g0179 |
2 | 406 | 0.0049 | 20 | c.50- others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084343 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG01358.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0018others(4): Show | a0001c0001t0002g0125 a0001c0002t0001g0310 a0001c0002t0018g0139 others(5): Show |
8 | 406 | 0.0197 | 20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084343 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0254 | 1 | 406 | 0.0025 | 20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150084390 | A | AGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG02486.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0006a0001c0005t0004a0001c0010t0001 | a0001c0001t0006g0237 a0001c0005t0004g0282 a0001c0010t0001g0328 |
3 | 406 | 0.0074 | 20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01167.hp2 HG02129.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0005t0004others(4): Show | a0001c0001t0002g0360 a0001c0001t0005g0355 a0001c0001t0005g0359 others(8): Show |
11 | 406 | 0.0271 | 20 | c.49+ others(35): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19408949 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01069.hp2 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(7): Show | a0001c0001t0002g0163 a0001c0002t0002g0009 a0001c0002t0002g0010 others(9): Show |
12 | 238 | 0.0504 | 20 | c.122 others(37): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513434 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 238 | 0.0042 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0016 | 1 | 238 | 0.0042 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18971.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0018 | a0001c0001t0001g0141 a0001c0010t0018g0191 |
2 | 238 | 0.0084 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 238 | 0.0042 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18952.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0018 | a0001c0001t0001g0145 a0001c0010t0018g0026 |
2 | 238 | 0.0084 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19513436 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03831.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0027 | a0001c0001t0001g0138 a0003c0005t0027g0229 |
2 | 238 | 0.0084 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 NA19043.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0003 | a0001c0002t0041a0001c0017t0023a0002c0003t0004others(1): Show | a0001c0002t0041g0031 a0001c0017t0023g0011 a0002c0003t0004g0104 others(2): Show |
5 | 238 | 0.0210 | 20 | c.-29 others(39): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar |