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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP161_chr15_81129270_81154179 | 81129790 | CTTTTTTG others(71): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(139): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(88): Show |
142 | 448 | 0.3170 | -78 | c.-45 others(89): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 4479 | chr15 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800493 | TATATAAT others(71): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 96 | 0.0104 | -78 | c.334 others(97): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664693 | ATATCTAT others(71): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(5): Show |
a0003a0004a0018 | a0003c0002a0003c0016a0004c0088others(1): Show | a0003c0002t0001a0003c0016t0001a0004c0088t0001others(1): Show | a0003c0002t0001g0232 a0003c0002t0001g0233 a0003c0002t0001g0237 others(5): Show |
8 | 268 | 0.0299 | -78 | c.556 others(95): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96664736 | TATCTATA others(71): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01978.hp1 HG03490.hp2 others(3): Show |
a0001a0006a0009 | a0001c0001a0006c0006a0006c0010others(1): Show | a0001c0001t0001a0006c0006t0001a0006c0010t0001others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0095 a0001c0001t0001g0258 others(3): Show |
6 | 268 | 0.0224 | -78 | c.556 others(95): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114198619 | TGGTCCCC others(71): Show |
T | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0286 | 1 | 400 | 0.0025 | -78 | c.172 others(95): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114199122 | GGTACGGT others(71): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 400 | 0.0025 | -78 | c.172 others(95): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CHFR_chr12_132827356_132892605 | 132868948 | GGGAGTGA others(71): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0034 | 1 | 378 | 0.0027 | -78 | c.583 others(93): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 6/17 | chr12 | TogoVar | |||||||
CHMP3_chr2_86498430_86568443 | 86544987 | AGACGAAG others(71): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG03098.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0285 a0001c0002t0006g0286 a0001c0002t0006g0287 |
3 | 336 | 0.0089 | -78 | c.46- others(93): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHMP6_chr17_80986841_81005133 | 80994696 | TGGGGCCC others(71): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00609.hp1 others(163): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0014 others(41): Show |
166 | 438 | 0.3790 | -78 | c.174 others(92): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29264105 | CGTCTGGG others(71): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00673.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0200 a0001c0001t0005g0193 a0001c0001t0007g0116 others(8): Show |
11 | 232 | 0.0474 | -78 | c.49+ others(95): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHN2_chr7_29189775_29519328 | 29264138 | GCCACCCC others(71): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0090 | 1 | 232 | 0.0043 | -78 | c.49+ others(95): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63356441 | CCAGTGAC others(71): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0134 | 1 | 168 | 0.0060 | -78 | c.229 others(92): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63357137 | GTGTCCCC others(71): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01255.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0001g0074 a0001c0001t0006g0051 a0001c0001t0006g0077 others(9): Show |
12 | 168 | 0.0714 | -78 | c.229 others(93): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757418 | GAAAGAAA others(71): Show |
G | intron_variant | MODIFIER | HG01169.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0243 a0001c0001t0005g0084 |
2 | 254 | 0.0079 | -78 | c.131 others(97): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33757430 | GAAAGAAA others(71): Show |
G | intron_variant | MODIFIER | HG02738.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0133 |
2 | 254 | 0.0079 | -78 | c.131 others(97): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101223683 | GAGGACTT others(71): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA19056.hp1 |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0008a0003c0011t0065 | a0001c0001t0008g0222 a0003c0011t0065g0376 |
2 | 422 | 0.0047 | -78 | c.816 others(97): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CLDN4_chr7_73825996_73837690 | 73836551 | CGGCCAGC others(71): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(179): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(6): Show |
182 | 372 | 0.4893 | -78 | c.*47 others(89): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 3862 | chr7 | TogoVar | |||||||
CLIC4_chr1_24740447_24849321 | 24800083 | TGGGAGGT others(71): Show |
T | intron_variant | MODIFIER | HG02257.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 a0001c0001t0001g0277 |
2 | 344 | 0.0058 | -78 | c.182 others(95): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLSTN2_chr3_139930185_140582397 | 140490011 | CATGTGTG others(71): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG02970.hp1 HG03704.hp1 others(2): Show |
a0001a0002a0003 | a0001c0006a0002c0002a0002c0004others(1): Show | a0001c0006t0004a0002c0002t0001a0002c0004t0001others(2): Show | a0001c0006t0004g0098 a0002c0002t0001g0022 a0002c0004t0001g0072 others(2): Show |
5 | 110 | 0.0455 | -78 | c.134 others(99): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CLUL1_chr18_591988_655182 | 596819 | TCTGCAGG others(71): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 others(1): Show |
4 | 414 | 0.0097 | -78 | c.-44 others(87): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 168 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 596870 | TCTGCAGG others(71): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 414 | 0.0024 | -78 | c.-39 others(87): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 117 | chr18 | TogoVar | |||||||
CLUL1_chr18_591988_655182 | 626928 | AAGGAAAG others(71): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0281 | 1 | 414 | 0.0024 | -78 | c.424 others(92): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 5/9 | chr18 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47976163 | ATATATAT others(71): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(52): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 others(47): Show |
55 | 366 | 0.1503 | -78 | c.-15 others(95): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
CNTN6_chr3_1088024_1409217 | 1245217 | TATATATA others(71): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0224 | 1 | 232 | 0.0043 | -78 | c.358 others(97): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 188980353 | GAATTCTA others(71): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 others(144): Show |
162 | 376 | 0.4309 | -78 | c.80- others(93): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3590549 | CCCTCCCG others(71): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345 | 1 | 378 | 0.0027 | -78 | c.-46 others(89): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 4562 | chr2 | TogoVar | |||||||
CPN2_chr3_194334768_194356328 | 194347785 | GCCCACCC others(71): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0003a0001c0005t0006a0002c0001t0001 | a0001c0002t0003g0122 a0001c0005t0006g0027 a0002c0001t0001g0123 |
5 | 440 | 0.0114 | -78 | c.-4+ others(93): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
CRISP1_chr6_49829257_49871535 | 49832051 | ATTTGGTG others(71): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02257.hp2 HG02723.hp2 others(8): Show |
a0001a0005 | a0001c0002a0005c0007 | a0001c0002t0002a0005c0007t0002 | a0001c0002t0002g0004 a0001c0002t0002g0047 a0001c0002t0002g0048 others(3): Show |
11 | 378 | 0.0291 | -78 | c.*31 others(89): Show |
CRISP1 | ENSG00000124812.15 | transcript | ENST00000335847.9 | protein_coding | 2205 | chr6 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240906889 | GGGGTGGA others(71): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp2 others(5): Show |
a0001a0002a0019 | a0001c0001a0001c0024a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0024t0002others(4): Show | a0001c0001t0002g0312 a0001c0001t0004g0340 a0001c0024t0002g0238 others(5): Show |
8 | 350 | 0.0229 | -78 | c.78+ others(91): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240906928 | TGCTCAGG others(71): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(102): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0020a0001c0022others(27): Show | a0001c0001t0002a0001c0001t0004a0001c0020t0002others(28): Show | a0001c0001t0002g0236 a0001c0001t0002g0247 a0001c0001t0002g0248 others(102): Show |
105 | 350 | 0.3000 | -78 | c.78+ others(91): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74798954 | AGGGGTTG others(71): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(16): Show |
a0001a0003 | a0001c0004a0001c0008a0001c0009others(1): Show | a0001c0004t0004a0001c0004t0007a0001c0008t0004others(2): Show | a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0149 others(10): Show |
19 | 394 | 0.0482 | -78 | c.242 others(91): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3190236 | ACTCCAAC others(71): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01243.hp2 others(23): Show |
a0001a0002a0003others(14): Show | a0001c0002a0001c0025a0001c0085others(23): Show | a0001c0002t0002a0001c0025t0003a0001c0085t0020others(23): Show | a0001c0002t0002g0083 a0001c0025t0003g0077 a0001c0085t0020g0060 others(23): Show |
26 | 126 | 0.2064 | -78 | c.519 others(95): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 33/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4116451 | GCCTGAAT others(71): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG01884.hp2 others(20): Show |
a0001a0002a0004others(9): Show | a0001c0004a0001c0005a0001c0019others(20): Show | a0001c0004t0063a0001c0005t0002a0001c0019t0078others(20): Show | a0001c0004t0063g0095 a0001c0005t0002g0111 a0001c0019t0078g0105 others(20): Show |
23 | 126 | 0.1825 | -78 | c.416 others(97): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4116511 | CGATGTAT others(71): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(39): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(38): Show | a0001c0001t0002a0001c0001t0039a0001c0003t0013others(39): Show | a0001c0001t0002g0102 a0001c0001t0039g0017 a0001c0003t0013g0026 others(39): Show |
42 | 126 | 0.3333 | -78 | c.416 others(97): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSNK1D_chr17_82237667_82278700 | 82260311 | GGTGTACT others(71): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG02738.hp2 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0194 |
3 | 320 | 0.0094 | -78 | c.188 others(95): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CST6_chr11_66007008_66018505 | 66015832 | AGGGTTGG others(71): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 414 | 0.0024 | -78 | c.*24 others(89): Show |
CST6 | ENSG00000175315.3 | transcript | ENST00000312134.3 | protein_coding | 2328 | chr11 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48632980 | TAGGGTTG others(71): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(58): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0077 others(58): Show |
61 | 144 | 0.4236 | -78 | c.181 others(95): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 2/11 | chr18 | TogoVar | |||||||
CTNNBL1_chr20_37689030_37877118 | 37718307 | CGGACGGG others(71): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(6): Show |
9 | 266 | 0.0338 | -78 | c.31- others(95): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CTSO_chr4_155919118_155958866 | 155958260 | TATTGGAA others(71): Show |
T | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 348 | 0.0029 | -78 | c.-44 others(89): Show |
CTSO | ENSG00000256043.5 | transcript | ENST00000433477.4 | protein_coding | 4395 | chr4 | TogoVar | |||||||
CUBN_chr10_16818966_17134811 | 16851740 | CTTTCCCT others(71): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0008 | a0008c0044 | a0008c0044t0001 | a0008c0044t0001g0090 | 1 | 192 | 0.0052 | -78 | c.945 others(95): Show |
CUBN | ENSG00000107611.16 | transcript | ENST00000377833.10 | protein_coding | 59/66 | chr10 | TogoVar | |||||||
CYLD_chr16_50737086_50806935 | 50755095 | ATACATAT others(71): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02897.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0217 others(6): Show |
9 | 302 | 0.0298 | -78 | c.913 others(93): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CYP7A1_chr8_58485178_58505163 | 58503926 | CAAGGCTG others(71): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 456 | 0.0022 | -78 | c.-39 others(89): Show |
CYP7A1 | ENSG00000167910.4 | transcript | ENST00000301645.4 | protein_coding | 3764 | chr8 | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269082 | TTATATAT others(71): Show |
T | downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 240 | 0.0042 | -78 | c.*35 others(89): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 2385 | chrX | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71779130 | CATATATA others(71): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 HG03225.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0042 a0001c0001t0002g0037 a0001c0001t0003g0017 others(3): Show |
6 | 102 | 0.0588 | -78 | c.848 others(97): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24185666 | GTTTTACA others(71): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0086 | 1 | 216 | 0.0046 | -78 | c.102 others(97): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 8/9 | chr6 | TogoVar | |||||||
DDX1_chr2_15586868_15636101 | 15611578 | CCCTCCCG others(71): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 396 | 0.0025 | -78 | c.957 others(95): Show |
DDX1 | ENSG00000079785.16 | transcript | ENST00000233084.8 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DEFB1_chr8_6865592_6882936 | 6882858 | GCCCTGGA others(71): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0003 a0001c0001t0005g0075 |
2 | 478 | 0.0042 | -78 | c.-50 others(89): Show |
DEFB1 | ENSG00000164825.4 | transcript | ENST00000297439.4 | protein_coding | 4923 | chr8 | TogoVar | |||||||
DFFB_chr1_3852476_3890429 | 3874333 | GCCCACGC others(71): Show |
G | intron_variant | MODIFIER | NA18522.hp2 NA19240.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0004a0002c0008t0007 | a0001c0001t0004g0270 a0002c0008t0007g0263 a0002c0008t0007g0271 |
3 | 404 | 0.0074 | -78 | c.782 others(95): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DFFB_chr1_3852476_3890429 | 3874411 | TCCCACGC others(71): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 404 | 0.0025 | -78 | c.782 others(95): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186302481 | TATATATA others(71): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0226 | 1 | 234 | 0.0043 | -78 | c.145 others(95): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 3/24 | chr3 | TogoVar |