| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CLIC4_chr1_24740447_24849321 | 24820067 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02257.hp1 NA18959.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0024a0001c0001t0001g0055others(2): Show | 5 | 344 | 0.0145 | 30 | c.308 others(47): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CLIC4_chr1_24740447_24849321 | 24820067 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0068 | 2 | 344 | 0.0058 | 30 | c.308 others(47): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CLIC5_chr6_45893456_46020860 | 45958441 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 340 | 0.0029 | 30 | c.64- others(45): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 45958443 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02486.hp2 others(4): Show |
a0001a0007 | a0001c0001a0007c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0003g0232others(4): Show | 7 | 340 | 0.0206 | 30 | c.64- others(45): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 45958443 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00558.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0017others(17): Show | 20 | 340 | 0.0588 | 30 | c.64- others(45): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 45958445 | T | TATACACA others(23): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp2 HG01346.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0050a0001c0001t0001g0136a0001c0001t0001g0186others(8): Show | 11 | 340 | 0.0324 | 30 | c.64- others(45): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 46005980 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 340 | 0.0029 | 30 | c.63+ others(45): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLIP1_chr12_122266469_122427669 | 122293002 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0026 | 1 | 234 | 0.0043 | 30 | c.359 others(49): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 20/25 | chr12 | TogoVar | ||||||
| CLIP1_chr12_122266469_122427669 | 122379943 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184a0001c0001t0002g0186 | 2 | 234 | 0.0086 | 30 | c.85+ others(43): Show |
CLIP1 | ENSG00000130779.22 | transcript | ENST00000620786.5 | protein_coding | 2/25 | chr12 | TogoVar | ||||||
| CLMN_chr14_95176940_95324908 | 95245178 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 276 | 0.0036 | 30 | c.83- others(47): Show |
CLMN | ENSG00000165959.12 | transcript | ENST00000298912.9 | protein_coding | 1/12 | chr14 | TogoVar | ||||||
| CLMP_chr11_123064872_123200248 | 123093595 | A | ACCCAAAG others(23): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp1 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0021a0001c0001t0001g0022a0001c0001t0001g0024others(68): Show | 71 | 254 | 0.2795 | 30 | c.186 others(47): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 2/6 | chr11 | TogoVar | ||||||
| CLMP_chr11_123064872_123200248 | 123113305 | T | TTGTCTTT others(23): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0006 | 1 | 254 | 0.0039 | 30 | c.29- others(47): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| CLMP_chr11_123064872_123200248 | 123150480 | A | AAAGAAAG others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0226 | 1 | 254 | 0.0039 | 30 | c.28+ others(47): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| CLN6_chr15_68201992_68234728 | 68229762 | A | AGCGGGGC others(23): Show |
upstream_gene_variant | MODIFIER | HG02273.hp1 HG02523.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0001g0172 | 3 | 324 | 0.0093 | 30 | c.-17 others(39): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 35 | chr15 | TogoVar | ||||||
| CLN6_chr15_68201992_68234728 | 68229767 | A | AGCGGAGC others(23): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01934.hp1 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0110a0001c0001t0001g0162 | 5 | 324 | 0.0154 | 30 | c.-18 others(39): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | ||||||
| CLN6_chr15_68201992_68234728 | 68229767 | A | AGCGGAGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG02015.hp1 HG02015.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0112others(3): Show | 7 | 324 | 0.0216 | 30 | c.-18 others(39): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | ||||||
| CLN6_chr15_68201992_68234728 | 68229767 | A | AGGGAGGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01192.hp1 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0034a0001c0001t0001g0113 | 4 | 324 | 0.0124 | 30 | c.-18 others(39): Show |
CLN6 | ENSG00000128973.13 | transcript | ENST00000249806.11 | protein_coding | 40 | chr15 | TogoVar | ||||||
| CLNK_chr4_10481395_10689768 | 10535264 | A | AAAGAAAG others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 1 | 320 | 0.0031 | 30 | c.603 others(47): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
| CLNK_chr4_10481395_10689768 | 10654384 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0035 | a0001c0001t0013g0255a0001c0001t0035g0194 | 2 | 320 | 0.0063 | 30 | c.11+ others(47): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
| CLNK_chr4_10481395_10689768 | 10654389 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0276a0001c0001t0001g0283a0001c0001t0001g0293others(25): Show | 28 | 320 | 0.0875 | 30 | c.11+ others(47): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
| CLOCK_chr4_55422903_55551909 | 55445582 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0154 | 1 | 338 | 0.0030 | 30 | c.154 others(47): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 18/22 | chr4 | TogoVar | ||||||
| CLSTN1_chr1_9723926_9828965 | 9778223 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0008 | 1 | 270 | 0.0037 | 30 | c.92- others(45): Show |
CLSTN1 | ENSG00000171603.18 | transcript | ENST00000377298.9 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
| CLSTN2_chr3_139930185_140582397 | 139998336 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02970.hp1 |
a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0087a0005c0011t0002g0101 | 2 | 110 | 0.0182 | 30 | c.109 others(49): 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(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG02145.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0006a0001c0001t0013a0001c0003t0019others(5): Show | a0001c0001t0006g0040a0001c0001t0013g0090a0001c0003t0019g0062others(5): Show | 8 | 110 | 0.0727 | 30 | c.232 others(49): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CLSTN2_chr3_139930185_140582397 | 140353220 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0085 | 1 | 110 | 0.0091 | 30 | c.233 others(49): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CLSTN2_chr3_139930185_140582397 | 140419650 | C | CACGTATA others(23): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0082 | 1 | 110 | 0.0091 | 30 | c.638 others(47): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CLTA_chr9_36185921_36217059 | 36216327 | A | ATGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | NA18984.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 400 | 0.0050 | 30 | c.*45 others(41): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | ||||||
| CLTA_chr9_36185921_36217059 | 36216327 | A | ATGTGTGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0007a0001c0002t0003g0003 | 2 | 400 | 0.0050 | 30 | c.*45 others(41): Show |
CLTA | ENSG00000122705.18 | transcript | ENST00000345519.10 | protein_coding | 4269 | chr9 | TogoVar | ||||||
| CLTCL1_chr22_19174473_19296719 | 19190596 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 NA19084.hp2 |
a0001a0022 | a0001c0004a0022c0023 | a0001c0004t0004a0022c0023t0004 | a0001c0004t0004g0258a0022c0023t0004g0314 | 2 | 346 | 0.0058 | 30 | c.432 others(47): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 27/32 | chr22 | TogoVar | ||||||
| CLUL1_chr18_591988_655182 | 627009 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01192.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0189a0001c0001t0001g0193others(2): Show | 5 | 414 | 0.0121 | 30 | c.424 others(43): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CLUL1_chr18_591988_655182 | 627009 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0317 | 1 | 414 | 0.0024 | 30 | c.424 others(43): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CLUL1_chr18_591988_655182 | 627013 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0226a0001c0001t0001g0287a0001c0001t0002g0323 | 3 | 414 | 0.0073 | 30 | c.424 others(43): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CLUL1_chr18_591988_655182 | 627030 | A | AAGAAGAA others(23): Show |
intron_variant | MODIFIER | HG02148.hp1 HG03492.hp2 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160a0001c0001t0001g0165a0001c0001t0001g0199others(2): Show | 5 | 414 | 0.0121 | 30 | c.424 others(43): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CLU_chr8_27591917_27619700 | 27593372 | A | AGTTACGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0185 | 2 | 458 | 0.0044 | 30 | c.*48 others(41): Show |
CLU | ENSG00000120885.22 | transcript | ENST00000316403.15 | protein_coding | 3544 | chr8 | TogoVar | ||||||
| CLVS2_chr6_122991235_123077925 | 123040769 | A | AAAAAGAA others(23): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18972.hp2 NA18998.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0082a0001c0001t0002g0229a0001c0001t0012g0051others(4): Show | 7 | 336 | 0.0208 | 30 | c.565 others(47): Show |
CLVS2 | ENSG00000146352.13 | transcript | ENST00000275162.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CMC1_chr3_28236619_28330142 | 28258060 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0260 | 1 | 338 | 0.0030 | 30 | c.20- others(45): Show |
CMC1 | ENSG00000187118.14 | transcript | ENST00000466830.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMC2_chr16_80961448_81011885 | 80971599 | C | CATATATA others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0044a0001c0001t0057others(3): Show | a0001c0001t0010g0004a0001c0001t0010g0057a0001c0001t0044g0252others(5): Show | 11 | 408 | 0.0270 | 30 | c.*44 others(41): Show |
CMC2 | ENSG00000103121.9 | transcript | ENST00000219400.8 | protein_coding | 4/4 | 4493 | chr16 | TogoVar | |||||
| CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0005 | a0001c0005t0043 | a0001c0005t0043g0252 | 1 | 268 | 0.0037 | 30 | c.826 others(47): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CMIP_chr16_81439808_81716762 | 81667799 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0070 | 1 | 268 | 0.0037 | 30 | c.826 others(47): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CMSS1_chr3_99812862_100186732 | 100117878 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 232 | 0.0043 | 30 | c.65- others(47): Show |
CMSS1 | ENSG00000184220.12 | transcript | ENST00000421999.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM4_chr16_66609750_66701743 | 66683189 | A | ATACGTAT others(23): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 320 | 0.0031 | 30 | c.186 others(49): Show |
CMTM4 | ENSG00000183723.13 | transcript | ENST00000394106.7 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
| CMTM7_chr3_32386853_32460528 | 32430681 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 368 | 0.0027 | 30 | c.160 others(49): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 344 | 0.0029 | 30 | c.148 others(49): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0021 | 1 | 344 | 0.0029 | 30 | c.148 others(49): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 344 | 0.0029 | 30 | c.148 others(49): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMTM8_chr3_32233680_32375321 | 32319074 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0195 | 1 | 344 | 0.0029 | 30 | c.148 others(49): Show |
CMTM8 | ENSG00000170293.9 | transcript | ENST00000307526.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNBD1_chr8_86861415_87387859 | 87129069 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19002.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0053a0003c0004t0001g0148 | 2 | 152 | 0.0132 | 30 | c.432 others(49): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CNBD1_chr8_86861415_87387859 | 87190877 | A | ATACATGT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0014others(33): Show | 36 | 152 | 0.2368 | 30 | c.432 others(49): Show |
CNBD1 | ENSG00000176571.13 | transcript | ENST00000518476.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CNDP1_chr18_74529500_74592212 | 74590360 | G | GCCCCCCC others(23): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0016 | 1 | 390 | 0.0026 | 30 | c.*57 others(41): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 3149 | chr18 | TogoVar | ||||||
| CNGA2_chrX_151729746_151750564 | 151743041 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 336 | 0.0030 | 30 | c.590 others(43): Show |
CNGA2 | ENSG00000183862.6 | transcript | ENST00000329903.5 | protein_coding | 6/6 | chrX | TogoVar |