| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CBY1_chr22_38651638_38678850 | 38666192 | TTTGTGGT others(63): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01261.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0038a0001c0001t0001g0103others(5): Show | 12 | 384 | 0.0313 | -70 | c.-38 others(87): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CCDC42_chr17_8724935_8749836 | 8742010 | AGAGTGGA others(63): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 410 | 0.0024 | -70 | c.295 others(85): Show |
CCDC42 | ENSG00000161973.11 | transcript | ENST00000293845.8 | protein_coding | 3/6 | chr17 | TogoVar | ||||||
| CCL21_chr9_34704005_34715136 | 34713985 | CAGAAGGC others(63): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -70 | c.-39 others(81): Show |
CCL21 | ENSG00000137077.8 | transcript | ENST00000259607.7 | protein_coding | 3850 | chr9 | TogoVar | ||||||
| CDH13_chr16_82621969_83805640 | 83764620 | CCTGCTCA others(63): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(48): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(32): Show | a0001c0001t0002g0007a0001c0001t0002g0016a0001c0001t0002g0028others(48): Show | 51 | 110 | 0.4636 | -70 | c.168 others(91): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61406473 | TGGACCAC others(63): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02055.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0012a0001c0003t0001g0038a0001c0003t0002g0002others(5): Show | 8 | 106 | 0.0755 | -70 | c.169 others(91): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CEACAM20_chr19_44501159_44534675 | 44532499 | AAAAGAAA others(63): Show |
A | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0087 | 1 | 438 | 0.0023 | -70 | c.-30 others(81): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2825 | chr19 | TogoVar | ||||||
| CEMIP2_chr9_71678366_71773513 | 71728249 | ATGTATAT others(63): Show |
A | intron_variant | MODIFIER | HG04199.hp2 HG04204.hp2 NA18945.hp2 |
a0005 | a0005c0004 | a0005c0004t0001a0005c0004t0022 | a0005c0004t0001g0231a0005c0004t0001g0232a0005c0004t0022g0020 | 3 | 320 | 0.0094 | -70 | c.204 others(89): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
| CEP131_chr17_81184596_81227965 | 81209824 | GGAGAAGC others(63): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0108 | 1 | 384 | 0.0026 | -70 | c.178 others(85): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | ||||||
| CEP72_chr5_607340_658553 | 649652 | CTGTGAGG others(63): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0023 | 1 | 91 | 0.0110 | -70 | c.177 others(89): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CEP76_chr18_12667625_12707723 | 12669053 | TTTTTTGA others(63): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp1 NA18967.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0101a0001c0001t0001g0102 | 3 | 380 | 0.0079 | -70 | c.*42 others(81): Show |
CEP76 | ENSG00000101624.11 | transcript | ENST00000262127.7 | protein_coding | 3571 | chr18 | TogoVar | ||||||
| CFAP410_chr21_44323944_44344390 | 44325705 | GGCCCAGG others(63): Show |
G | downstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -70 | c.*44 others(81): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3238 | chr21 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132880651 | ACTGAGAC others(63): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG02080.hp2 NA19056.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0199a0002c0003t0001g0145a0002c0003t0001g0162 | 3 | 246 | 0.0122 | -70 | c.379 others(87): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 28/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132917898 | TGCACCTC others(63): Show |
T | intron_variant | MODIFIER | NA18971.hp1 NA20905.hp2 |
a0001a0071 | a0001c0001a0071c0098 | a0001c0001t0002a0071c0098t0002 | a0001c0001t0002g0093a0071c0098t0002g0023 | 2 | 246 | 0.0081 | -70 | c.198 others(87): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 16/57 | chr10 | TogoVar | ||||||
| CFAP54_chr12_96484577_96880555 | 96664707 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG01993.hp1 others(5): Show |
a0003a0004a0014others(2): Show | a0003c0002a0004c0005a0004c0085others(3): Show | a0003c0002t0001a0004c0005t0001a0004c0085t0001others(3): Show | a0003c0002t0001g0211a0003c0002t0001g0263a0004c0005t0001g0036others(5): Show | 8 | 268 | 0.0299 | -70 | c.556 others(87): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP74_chr1_1916957_2008786 | 1969291 | GCCTTCCC others(63): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0056 | a0056c0090 | a0056c0090t0002 | a0056c0090t0002g0001 | 1 | 278 | 0.0036 | -70 | c.104 others(87): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 10/38 | chr1 | TogoVar | ||||||
| CFAP74_chr1_1916957_2008786 | 1982305 | CACCCAGC others(63): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0063 | a0063c0040 | a0063c0040t0001 | a0063c0040t0001g0134 | 1 | 278 | 0.0036 | -70 | c.500 others(87): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | ||||||
| CHFR_chr12_132827356_132892605 | 132836167 | ACTCACAG others(63): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18942.hp1 NA18967.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0086a0001c0004t0018g0208a0001c0004t0018g0209others(1): Show | 4 | 378 | 0.0106 | -70 | c.*53 others(81): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 18/18 | 5317 | chr12 | TogoVar | |||||
| CHKA_chr11_68047859_68126388 | 68084342 | ATATGTGT others(63): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0086 | 1 | 276 | 0.0036 | -70 | c.463 others(87): Show |
CHKA | ENSG00000110721.12 | transcript | ENST00000265689.9 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
| CHST8_chr19_33616953_33778506 | 33753570 | ACACCATC others(63): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0044a0001c0001t0002g0058a0001c0001t0002g0060others(13): Show | 16 | 254 | 0.0630 | -70 | c.131 others(89): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757452 | AAGAAAGA others(63): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 254 | 0.0039 | -70 | c.131 others(89): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHTF18_chr16_783620_803074 | 798364 | GAGTGGGG others(63): Show |
G | downstream_gene_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 428 | 0.0023 | -70 | c.*39 others(79): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 291 | chr16 | TogoVar | ||||||
| CLCN7_chr16_1439935_1480028 | 1459941 | GAGAGCAG others(63): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 HG03579.hp2 |
a0002a0004 | a0002c0008a0004c0018 | a0002c0008t0027a0004c0018t0053 | a0002c0008t0027g0252a0002c0008t0027g0253a0004c0018t0053g0276 | 3 | 404 | 0.0074 | -70 | c.594 others(85): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 6/24 | chr16 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763540 | GCCCCCCG others(63): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 413 | 0.0024 | -70 | c.-46 others(79): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 248 | chr8 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763574 | GCCCCCCG others(63): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01978.hp2 HG02015.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0064others(7): Show | 11 | 413 | 0.0266 | -70 | c.-43 others(79): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 214 | chr8 | TogoVar | ||||||
| CLSTN2_chr3_139930185_140582397 | 140490012 | ATGTGTGT others(63): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01261.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0005others(2): Show | a0001c0001t0039a0001c0003t0007a0002c0005t0004others(2): Show | a0001c0001t0039g0079a0001c0003t0007g0068a0002c0005t0004g0046others(2): Show | 5 | 110 | 0.0455 | -70 | c.134 others(91): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1034709 | GGTGTCTG others(63): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 2 | 390 | 0.0051 | -70 | c.391 others(87): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034766 | GTGGGTGG others(63): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0004 | a0001c0001t0001g0263a0001c0001t0001g0264a0001c0001t0001g0267others(2): Show | 5 | 390 | 0.0128 | -70 | c.391 others(87): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1034865 | GGTAAGCG others(63): Show |
G | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 3 | 390 | 0.0077 | -70 | c.391 others(87): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1035002 | GACCGGGA others(63): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG01243.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0170a0001c0001t0001g0187a0001c0001t0002g0003others(30): Show | 38 | 390 | 0.0974 | -70 | c.391 others(87): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| COG1_chr17_73188055_73213507 | 73192842 | CCGCCCCC others(63): Show |
C | upstream_gene_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0006 | 1 | 428 | 0.0023 | -70 | c.-22 others(79): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 212 | chr17 | TogoVar | ||||||
| COG1_chr17_73188055_73213507 | 73192846 | CCCCGCCC others(63): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03139.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0106a0002c0001t0001g0107a0002c0001t0001g0108others(1): Show | 4 | 428 | 0.0094 | -70 | c.-22 others(79): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 208 | chr17 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45437582 | ACACACAC others(63): Show |
A | intron_variant | MODIFIER | HG02165.hp2 NA18954.hp2 |
a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0262a0001c0005t0007g0263 | 2 | 292 | 0.0069 | -70 | c.107 others(89): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45500734 | GTGTTGGG others(63): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp2 HG01928.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0128a0001c0001t0002g0278a0001c0001t0013g0276others(1): Show | 4 | 292 | 0.0137 | -70 | c.268 others(89): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | ||||||
| COL4A3_chr2_227159624_227319792 | 227203419 | ATACATAC others(63): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp1 |
a0003 | a0003c0011a0003c0044 | a0003c0011t0010a0003c0044t0012 | a0003c0011t0010g0341a0003c0044t0012g0047 | 2 | 344 | 0.0058 | -70 | c.88- others(87): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A4_chr2_226997714_227169205 | 227041783 | GAAGGGAA others(63): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0020 | a0020c0041 | a0020c0041t0010 | a0020c0041t0010g0028 | 1 | 284 | 0.0035 | -70 | c.350 others(87): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134792840 | TGTGTGTG others(63): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(68): Show | a0001c0001t0001g0012a0001c0001t0001g0041a0001c0001t0001g0088others(105): Show | 108 | 272 | 0.3971 | -70 | c.270 others(89): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45987910 | GTCCAGAT others(63): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0007 | a0007c0036 | a0007c0036t0005 | a0007c0036t0005g0083 | 1 | 128 | 0.0078 | -70 | c.804 others(85): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45988305 | GGGTCCAG others(63): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0011 | a0006c0011t0002 | a0006c0011t0002g0097 | 1 | 128 | 0.0078 | -70 | c.804 others(85): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COMMD10_chr5_116080025_116298287 | 116158280 | GTCTCCCC others(63): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0032 | 1 | 350 | 0.0029 | -70 | c.510 others(89): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| COMMD6_chr13_75520214_75542841 | 75540131 | CAGCTATT others(63): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 396 | 0.0025 | -70 | c.-23 others(81): Show |
COMMD6 | ENSG00000188243.14 | transcript | ENST00000682242.1 | protein_coding | 2291 | chr13 | TogoVar | ||||||
| COPS3_chr17_17241616_17286246 | 17252332 | GCAGATAA others(63): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 352 | 0.0028 | -70 | c.102 others(89): Show |
COPS3 | ENSG00000141030.13 | transcript | ENST00000268717.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| CPSF2_chr14_92116969_92177145 | 92173351 | ATATATAC others(63): Show |
A | downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 388 | 0.0026 | -70 | c.*11 others(83): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1207 | chr14 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240923696 | CCCCCCAC others(63): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02922.hp2 others(1): Show |
a0014 | a0014c0014 | a0014c0014t0001 | a0014c0014t0001g0134a0014c0014t0001g0135a0014c0014t0001g0173others(1): Show | 4 | 350 | 0.0114 | -70 | c.488 others(87): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CRX_chr19_47816937_47848324 | 47818246 | CCCATCCA others(63): Show |
C | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02109.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0200a0001c0001t0001g0202a0001c0001t0003g0216 | 3 | 344 | 0.0087 | -70 | c.-37 others(81): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 3690 | chr19 | TogoVar | ||||||
| CRX_chr19_47816937_47848324 | 47835226 | TATTTTTT others(63): Show |
T | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0164 | 1 | 344 | 0.0029 | -70 | c.100 others(85): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CSGALNACT1_chr8_19399161_19762277 | 19479762 | GAAAAAAA others(63): Show |
G | intron_variant | MODIFIER | HG02040.hp1 HG02572.hp2 HG02630.hp2 others(11): Show |
a0001a0009a0014 | a0001c0001a0001c0002a0001c0017others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(7): Show | a0001c0001t0001g0201a0001c0002t0003g0098a0001c0002t0005g0050others(11): Show | 14 | 238 | 0.0588 | -70 | c.635 others(89): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
| CSNK1A1_chr5_149487982_149556439 | 149542602 | ATATATAT others(63): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 390 | 0.0026 | -70 | c.230 others(87): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| CST8_chr20_23486117_23501010 | 23490304 | ATATATAT others(63): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | -70 | c.-11 others(81): Show |
CST8 | ENSG00000125815.9 | transcript | ENST00000246012.2 | protein_coding | 812 | chr20 | TogoVar | ||||||
| CTBP1_chr4_1206445_1254130 | 1236744 | GTGTCCAC others(63): Show |
G | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 422 | 0.0024 | -70 | c.162 others(87): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| CTBP1_chr4_1206445_1254130 | 1237109 | GAAACCGA others(63): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 422 | 0.0024 | -70 | c.162 others(87): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 3/9 | chr4 | TogoVar |