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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRPPA_chr7_16082525_16426538 | 16389918 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0205 | 1 | 290 | 0.0035 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389922 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG04115.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0050 | a0001c0001t0001g0109a0001c0001t0006g0082a0001c0001t0050g0081 | 3 | 290 | 0.0103 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0158 | 1 | 290 | 0.0035 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0251 | 1 | 290 | 0.0035 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 290 | 0.0035 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16389928 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0053 | 1 | 290 | 0.0035 | 17 | c.535 others(36): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAP_chr3_33109014_33152773 | 33121411 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02809.hp1 NA20300.hp2 |
a0001 | a0001c0007 | a0001c0007t0018 | a0001c0007t0018g0201a0001c0007t0018g0202a0001c0007t0018g0266 | 3 | 408 | 0.0074 | 17 | c.621 others(32): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRTAP_chr3_33109014_33152773 | 33143649 | A | ATGTAGTG others(10): Show |
3_prime_UTR_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0001 | 1 | 408 | 0.0025 | 17 | c.*12 others(28): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 7/7 | 1221 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
CRTC3_chr15_90524923_90650345 | 90567691 | A | ATAAATAA others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 276 | 0.0036 | 17 | c.232 others(36): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90613104 | G | GCGGGGGA others(10): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02615.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0012a0002c0002t0015 | a0002c0002t0012g0136a0002c0002t0012g0138a0002c0002t0015g0026others(1): Show | 4 | 276 | 0.0145 | 17 | c.578 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90613104 | G | GCGGGGGA others(10): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0223a0001c0001t0003g0016a0001c0001t0003g0017others(73): Show | 76 | 276 | 0.2754 | 17 | c.578 others(34): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90635652 | A | ACTCTGTC others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0025 | 1 | 276 | 0.0036 | 17 | c.126 others(36): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47844574 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01243.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0019a0001c0001t0065 | a0001c0001t0005g0026a0001c0001t0005g0106a0001c0001t0005g0285others(3): Show | 6 | 344 | 0.0174 | 17 | c.*46 others(28): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1251 | chr19 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 106998659 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0268 | 1 | 320 | 0.0031 | 17 | c.113 others(34): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 7/12 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45847200 | C | CGCGGACA others(10): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 17 | c.-29 others(26): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 274 | chr11 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45875811 | G | GCATCCTC others(10): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 368 | 0.0027 | 17 | c.*2+ others(32): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26618485 | T | TTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01169.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(8): Show | 23 | 402 | 0.0572 | 17 | c.-35 others(28): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 3477 | chr22 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26619135 | C | CAGAAGGT others(10): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 402 | 0.0025 | 17 | c.-28 others(28): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 2827 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26618485 | T | TTTTCTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0031a0001c0001t0001g0033others(7): Show | 22 | 426 | 0.0516 | 17 | c.-52 others(26): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 459 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26619135 | C | CAGAAGGT others(10): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 426 | 0.0024 | 17 | c.-11 others(28): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 1109 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106377621 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0262 | 1 | 272 | 0.0037 | 17 | c.173 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106438607 | T | TAATCCAT others(10): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0067 | a0067c0079 | a0067c0079t0002 | a0067c0079t0002g0006 | 1 | 272 | 0.0037 | 17 | c.174 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106492676 | T | TATCATAT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02647.hp2 others(5): Show |
a0003a0009a0012others(3): Show | a0003c0038a0009c0012a0012c0015others(4): Show | a0003c0038t0007a0009c0012t0002a0012c0015t0003others(4): Show | a0003c0038t0007g0144a0009c0012t0002g0272a0012c0015t0003g0241others(5): Show | 8 | 272 | 0.0294 | 17 | c.313 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106535757 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0201 | 1 | 272 | 0.0037 | 17 | c.471 others(36): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG2_chr1_26316865_26359130 | 26333014 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02572.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150a0002c0002t0001g0176a0002c0002t0001g0302 | 3 | 376 | 0.0080 | 17 | c.418 others(36): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02615.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0004a0001c0001t0003g0005a0001c0001t0004g0012others(2): Show | 6 | 452 | 0.0133 | 17 | c.*17 others(28): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0112a0001c0001t0001g0143others(8): Show | 11 | 250 | 0.0440 | 17 | c.634 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01175.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0166a0001c0001t0001g0188a0001c0003t0001g0019others(1): Show | 4 | 250 | 0.0160 | 17 | c.634 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20505359 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18953.hp2 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0001g0039a0001c0001t0001g0067others(2): Show | 5 | 250 | 0.0200 | 17 | c.149 others(34): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184114 | G | GTGTGTGT others(10): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 HG02647.hp2 HG04228.hp2 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0001a0001c0001t0001g0102a0006c0011t0001g0119 | 3 | 334 | 0.0090 | 17 | c.-34 others(28): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152709601 | A | AGAAAGAG others(10): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 211 | 0.0047 | 17 | c.-49 others(26): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 329 | chrX | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152709632 | A | AGAGAGAG others(10): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 211 | 0.0047 | 17 | c.-52 others(26): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 360 | chrX | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41568134 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0086 | 1 | 288 | 0.0035 | 17 | c.-12 others(36): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49047564 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02735.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0317a0001c0001t0001g0318a0001c0002t0001g0356others(4): Show | 7 | 386 | 0.0181 | 17 | c.-12 others(34): 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(10): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 386 | 0.0026 | 17 | c.229 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49097938 | A | ATTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0236 | 2 | 386 | 0.0052 | 17 | c.*15 others(28): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | ||||||
CSF1R_chr5_150048295_150091554 | 150085277 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01099.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(11): Show | a0001c0001t0002g0246a0001c0001t0002g0256a0001c0001t0002g0261others(19): Show | 23 | 406 | 0.0567 | 17 | c.49+ others(32): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1281079 | T | TCCTTCTC others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02559.hp1 others(10): Show |
a0001a0002a0004 | a0001c0005a0002c0003a0002c0004others(3): Show | a0001c0005t0005a0002c0003t0001a0002c0003t0002others(5): Show | a0001c0005t0005g0009a0001c0005t0005g0136a0002c0003t0001g0007others(10): Show | 13 | 159 | 0.0818 | 17 | c.-26 others(34): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1282031 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0034 | 1 | 159 | 0.0063 | 17 | c.-26 others(32): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1294453 | C | CACAGAAA others(10): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02886.hp2 |
a0004a0008 | a0004c0010a0008c0016 | a0004c0010t0003a0004c0010t0006a0008c0016t0009 | a0004c0010t0003g0158a0004c0010t0006g0033a0008c0016t0009g0015 | 3 | 159 | 0.0189 | 17 | c.774 others(27): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1314378 | T | TGCACCTG others(10): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 159 | 0.0063 | 17 | c.*48 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4444 | chrX | TogoVar | ||||||
CSF3_chr17_40010440_40022813 | 40013783 | C | CTGGGCCA others(10): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 2 | 434 | 0.0046 | 17 | c.-16 others(28): Show |
CSF3 | ENSG00000108342.13 | transcript | ENST00000394149.8 | protein_coding | 1656 | chr17 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19485759 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02293.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0009 | a0001c0002t0008g0232a0001c0002t0009g0056 | 2 | 238 | 0.0084 | 17 | c.634 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19541553 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0023a0002c0003t0005 | a0001c0002t0023g0096a0002c0003t0005g0100a0002c0003t0005g0113others(1): Show | 4 | 238 | 0.0168 | 17 | c.-29 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19599472 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0007 | a0001c0007t0031 | a0001c0007t0031g0029 | 1 | 238 | 0.0042 | 17 | c.-29 others(36): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19667031 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0052 | 1 | 238 | 0.0042 | 17 | c.-39 others(38): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18941.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0157a0001c0002t0008g0156 | 2 | 394 | 0.0051 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 NA18950.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046a0001c0002t0001g0047a0001c0002t0001g0048 | 6 | 394 | 0.0152 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp1 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0013 | a0001c0002t0001g0005a0001c0002t0001g0164a0001c0002t0001g0165others(8): Show | 24 | 394 | 0.0609 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSK_chr15_74777080_74808197 | 74786013 | T | TTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179a0001c0002t0001g0180a0001c0002t0001g0181 | 3 | 394 | 0.0076 | 17 | c.-66 others(34): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |