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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLMN_chr14_95176940_95324908 | 95245210 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp2 others(13): Show |
a0001a0009a0011 | a0001c0001a0001c0002a0009c0019others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(6): Show | a0001c0001t0001g0094a0001c0001t0001g0142a0001c0001t0001g0143others(13): Show | 16 | 276 | 0.0580 | 15 | c.83- others(32): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123107534 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01943.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0039a0001c0001t0005g0068a0001c0001t0005g0087others(9): Show | 12 | 254 | 0.0472 | 15 | c.29- others(30): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123125504 | C | CTCCCTTC others(8): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0077 | 1 | 254 | 0.0039 | 15 | c.29- others(32): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150416 | T | TAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0248 | 1 | 254 | 0.0039 | 15 | c.28+ others(32): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0205 | 1 | 254 | 0.0039 | 15 | c.28+ others(32): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLMP_chr11_123064872_123200248 | 123182302 | A | AGATTCCA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0184 | 1 | 254 | 0.0039 | 15 | c.28+ others(32): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10489669 | C | CTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02015.hp2 HG02074.hp2 others(7): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0011a0001c0001t0026a0001c0001t0050others(2): Show | a0001c0001t0011g0020a0001c0001t0011g0033a0001c0001t0011g0035others(7): Show | 10 | 320 | 0.0313 | 15 | c.*79 others(24): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 19/19 | 797 | chr4 | TogoVar | |||||
CLNK_chr4_10481395_10689768 | 10535264 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0320 | 1 | 320 | 0.0031 | 15 | c.603 others(32): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10537676 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0136 | 1 | 320 | 0.0031 | 15 | c.602 others(32): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10655375 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0202a0001c0001t0004g0026 | 2 | 320 | 0.0063 | 15 | c.11+ others(32): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10677837 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | NA18999.hp1 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008 | a0001c0001t0005g0270a0001c0001t0008g0271 | 2 | 320 | 0.0063 | 15 | c.-43 others(32): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10677837 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(60): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(24): Show | a0001c0001t0003g0005a0001c0001t0003g0191a0001c0001t0003g0216others(60): Show | 63 | 320 | 0.1969 | 15 | c.-43 others(32): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10689745 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG01934.hp2 HG02148.hp2 others(9): Show |
a0001a0009 | a0001c0001a0001c0010a0009c0009 | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(6): Show | a0001c0001t0003g0203a0001c0001t0003g0204a0001c0001t0003g0205others(9): Show | 12 | 320 | 0.0375 | 15 | c.-51 others(26): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 4978 | chr4 | TogoVar | ||||||
CLNS1A_chr11_77609530_77642794 | 77637243 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0023 | 2 | 408 | 0.0049 | 15 | c.125 others(30): Show |
CLNS1A | ENSG00000074201.9 | transcript | ENST00000525428.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55445582 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0104a0001c0001t0001g0124a0001c0001t0001g0144others(9): Show | 12 | 338 | 0.0355 | 15 | c.154 others(32): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55498603 | C | CTTATTAT others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0074 | a0002c0003t0074g0291 | 1 | 338 | 0.0030 | 15 | c.-13 others(34): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55503978 | T | TAAAAGAA others(8): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 338 | 0.0030 | 15 | c.-13 others(34): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 2/22 | chr4 | TogoVar | ||||||
CLOCK_chr4_55422903_55551909 | 55530774 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG03540.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0015a0001c0001t0016others(5): Show | a0001c0001t0003g0016a0001c0001t0015g0060a0001c0001t0016g0003others(8): Show | 11 | 338 | 0.0325 | 15 | c.-29 others(36): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
CLPB_chr11_72280495_72439531 | 72286223 | G | GTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00738.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0063a0001c0001t0078others(6): Show | a0001c0001t0005g0032a0001c0001t0005g0042a0001c0001t0005g0047others(11): Show | 14 | 206 | 0.0680 | 15 | c.*71 others(26): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 17/17 | 7143 | chr11 | TogoVar | |||||
CLPB_chr11_72280495_72439531 | 72286231 | T | TTTTTTTT others(8): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp1 NA18952.hp1 NA18967.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0012a0001c0001t0013a0001c0001t0122others(2): Show | a0001c0001t0012g0186a0001c0001t0012g0190a0001c0001t0013g0182others(5): Show | 9 | 206 | 0.0437 | 15 | c.*71 others(26): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 17/17 | 7135 | chr11 | TogoVar | |||||
CLPB_chr11_72280495_72439531 | 72371533 | A | AAAAATAA others(8): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01934.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0015a0001c0002t0098a0001c0009t0071 | a0001c0001t0015g0169a0001c0002t0098g0181a0001c0009t0071g0167 | 3 | 206 | 0.0146 | 15 | c.736 others(32): Show |
CLPB | ENSG00000162129.15 | transcript | ENST00000294053.9 | protein_coding | 5/16 | chr11 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35775043 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00621.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004 | 11 | 460 | 0.0239 | 15 | c.-15 others(26): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1554 | chr6 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35775043 | A | AAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 HG02071.hp1 NA18950.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 6 | 460 | 0.0130 | 15 | c.-15 others(26): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1554 | chr6 | TogoVar | ||||||
CLPSL2_chr6_35771598_35784552 | 35775043 | A | AAAAAACA others(8): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 460 | 0.0044 | 15 | c.-15 others(26): Show |
CLPSL2 | ENSG00000196748.10 | transcript | ENST00000403376.4 | protein_coding | 1554 | chr6 | TogoVar | ||||||
CLSTN1_chr1_9723926_9828965 | 9747176 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp2 NA18983.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0063a0003c0004t0002g0069 | 2 | 270 | 0.0074 | 15 | c.985 others(32): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 139998336 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG03098.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0009t0022others(4): Show | a0001c0001t0001g0048a0001c0001t0014g0032a0001c0009t0022g0049others(4): Show | 7 | 110 | 0.0636 | 15 | c.109 others(34): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140251584 | G | GTTCCTTT others(8): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01261.hp1 HG02280.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(7): Show | a0001c0001t0001g0019a0001c0001t0001g0037a0001c0001t0001g0045others(12): Show | 15 | 110 | 0.1364 | 15 | c.232 others(34): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140311287 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0107 | 1 | 110 | 0.0091 | 15 | c.233 others(34): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLSTN2_chr3_139930185_140582397 | 140528636 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01496.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0013others(4): Show | a0001c0001t0005g0026a0001c0001t0005g0089a0001c0001t0011g0031others(5): Show | 8 | 110 | 0.0727 | 15 | c.134 others(34): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CLTB_chr5_176387501_176421539 | 176408657 | G | GGACTATA others(8): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 406 | 0.0025 | 15 | c.234 others(32): Show |
CLTB | ENSG00000175416.16 | transcript | ENST00000310418.9 | protein_coding | 2/5 | chr5 | TogoVar | ||||||
CLTCL1_chr22_19174473_19296719 | 19190596 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03654.hp1 NA18970.hp1 others(1): Show |
a0004a0010 | a0004c0006a0010c0016 | a0004c0006t0005a0010c0016t0006 | a0004c0006t0005g0010a0004c0006t0005g0011a0010c0016t0006g0311others(1): Show | 4 | 346 | 0.0116 | 15 | c.432 others(32): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 27/32 | chr22 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2701820 | G | GCCTCAGG others(8): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19011.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0185a0001c0005t0001g0249 | 2 | 420 | 0.0048 | 15 | c.619 others(28): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 4/25 | chr17 | TogoVar | ||||||
CLUH_chr17_2684387_2716764 | 2713537 | T | TGTGTGTA others(8): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0310 | 1 | 420 | 0.0024 | 15 | c.-18 others(26): Show |
CLUH | ENSG00000132361.18 | transcript | ENST00000651024.2 | protein_coding | 1774 | chr17 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 627004 | A | AGAAAGAA others(8): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 414 | 0.0024 | 15 | c.424 others(28): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 630672 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0108 | 1 | 414 | 0.0024 | 15 | c.857 others(32): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLUL1_chr18_591988_655182 | 645810 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0064a0001c0001t0004g0140 | 2 | 414 | 0.0048 | 15 | c.139 others(32): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CLU_chr8_27591917_27619700 | 27593372 | A | AGTTACGT others(8): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG01943.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0026a0001c0001t0002g0012a0001c0001t0002g0021others(11): Show | 14 | 458 | 0.0306 | 15 | c.*48 others(26): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | ||||||
CLU_chr8_27591917_27619700 | 27607339 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0094a0001c0001t0002g0091 | 2 | 458 | 0.0044 | 15 | c.247 others(30): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CLVS1_chr8_61282970_61506629 | 61357489 | C | CTTTTATT others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0180 | 1 | 184 | 0.0054 | 15 | c.456 others(34): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61357494 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0124a0001c0001t0002g0029others(6): Show | 9 | 184 | 0.0489 | 15 | c.456 others(34): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61357501 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137a0001c0001t0001g0158 | 2 | 184 | 0.0109 | 15 | c.456 others(34): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS1_chr8_61282970_61506629 | 61392842 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0002g0027a0001c0001t0002g0074others(1): Show | 4 | 184 | 0.0217 | 15 | c.630 others(34): Show |
CLVS1 | ENSG00000177182.11 | transcript | ENST00000325897.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123002586 | T | TAATAAAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(190): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(171): Show | 193 | 336 | 0.5744 | 15 | c.389 others(32): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAGAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(85): Show | 101 | 336 | 0.3006 | 15 | c.565 others(32): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CLVS2_chr6_122991235_123077925 | 123075349 | C | CTTTCTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0276 | 1 | 336 | 0.0030 | 15 | c.*11 others(28): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2425 | chr6 | TogoVar | ||||||
CLVS2_chr6_122991235_123077925 | 123075380 | C | CCCCTTCC others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0016others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0008g0001others(10): Show | 17 | 336 | 0.0506 | 15 | c.*11 others(28): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 2456 | chr6 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99601833 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 218 | 0.0046 | 15 | c.-48 others(26): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 4856 | chr13 | TogoVar | ||||||
CLYBL_chr13_99601690_99897570 | 99675323 | A | ATATACTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0053a0001c0001t0001g0059others(68): Show | 71 | 218 | 0.3257 | 15 | c.62+ others(32): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99716169 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0086 | 2 | 218 | 0.0092 | 15 | c.63- others(32): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CLYBL_chr13_99601690_99897570 | 99720402 | T | TTTTTCAT others(8): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 218 | 0.0046 | 15 | c.63- others(32): Show |
CLYBL | ENSG00000125246.16 | transcript | ENST00000339105.9 | protein_coding | 1/8 | chr13 | TogoVar |