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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAMK1D_chr10_12344547_12840545 | 12691367 | ATATATAT others(50): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01975.hp2 HG02083.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0031others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0206 a0001c0001t0006g0152 others(3): Show |
6 | 214 | 0.0280 | -57 | c.299 others(76): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAPN13_chr2_30717771_30812446 | 30799065 | CTCAGGGC others(50): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0339 | 1 | 384 | 0.0026 | -57 | c.-33 others(74): Show |
CAPN13 | ENSG00000162949.16 | transcript | ENST00000295055.12 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
CASTOR2_chr7_74959705_75036528 | 75022481 | GGTGACAG others(50): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(121): Show |
124 | 228 | 0.5439 | -57 | c.829 others(72): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10661443 | CCATACAA others(50): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0134 | 1 | 236 | 0.0042 | -57 | c.506 others(72): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 5/20 | chr1 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88955308 | CCCAGCCA others(50): Show |
C | intron_variant | MODIFIER | NA19004.hp2 NA19005.hp2 NA19088.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200 |
3 | 284 | 0.0106 | -57 | c.151 others(76): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88955559 | GCCAAGGC others(50): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(169): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(169): Show |
172 | 284 | 0.6056 | -57 | c.151 others(76): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88955613 | CCACCCAA others(50): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG02258.hp1 HG02602.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0034a0001c0002t0001others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0060 a0001c0001t0001g0141 others(7): Show |
10 | 284 | 0.0352 | -57 | c.151 others(76): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 196643 | TCCTCACC others(50): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0168 | 1 | 406 | 0.0025 | -57 | c.*85 others(68): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 224 | chr5 | TogoVar | |||||||
CCDC127_chr5_191868_223153 | 196691 | CCCCAGGG others(50): Show |
C | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 406 | 0.0025 | -57 | c.*85 others(68): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 176 | chr5 | TogoVar | |||||||
CCDC172_chr10_116319448_116385029 | 116337025 | AAAACAAG others(50): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG03471.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0095 a0001c0001t0002g0096 a0001c0001t0011g0097 |
3 | 338 | 0.0089 | -57 | c.166 others(74): Show |
CCDC172 | ENSG00000182645.6 | transcript | ENST00000333254.4 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
CCDC187_chr9_136244973_136309094 | 136277398 | TGGGTGCT others(50): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0011 | a0011c0011 | a0011c0011t0003 | a0011c0011t0003g0179 | 1 | 400 | 0.0025 | -57 | c.304 others(74): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 10/25 | chr9 | TogoVar | |||||||
CCDC187_chr9_136244973_136309094 | 136277406 | CACAGGGT others(50): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp2 others(38): Show |
a0007a0008a0011others(12): Show | a0007c0014a0007c0047a0007c0118others(20): Show | a0007c0014t0003a0007c0014t0019a0007c0047t0056others(28): Show | a0007c0014t0003g0149 a0007c0014t0003g0281 a0007c0014t0019g0007 others(36): Show |
41 | 400 | 0.1025 | -57 | c.304 others(74): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 10/25 | chr9 | TogoVar | |||||||
CCND3_chr6_41929952_41946808 | 41932057 | GAGTAGGA others(50): Show |
G | downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 456 | 0.0022 | -57 | c.*38 others(68): Show |
CCND3 | ENSG00000112576.13 | transcript | ENST00000372991.9 | protein_coding | 2894 | chr6 | TogoVar | |||||||
CD101_chr1_116996760_117041552 | 117029200 | AAAGAAAA others(50): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 |
a0001a0024 | a0001c0031a0024c0027 | a0001c0031t0006a0024c0027t0001 | a0001c0031t0006g0250 a0024c0027t0001g0119 |
2 | 426 | 0.0047 | -57 | c.282 others(76): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDC16_chr13_114229897_114277723 | 114231068 | CTGCTGCT others(50): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0020 a0001c0005t0006g0079 a0001c0005t0006g0080 |
5 | 380 | 0.0132 | -57 | c.-40 others(68): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3828 | chr13 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114231135 | CGGTGGGG others(50): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp2 HG03139.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0019 | 3 | 380 | 0.0079 | -57 | c.-39 others(68): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3761 | chr13 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114231167 | TGGGTGGA others(50): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0011 | a0001c0002t0002g0017 a0001c0002t0011g0077 |
2 | 380 | 0.0053 | -57 | c.-39 others(68): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3729 | chr13 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114231363 | AGGTGGGG others(50): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp1 HG01496.hp2 HG01928.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0143 others(7): Show |
17 | 380 | 0.0447 | -57 | c.-37 others(68): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3533 | chr13 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114231420 | CGGTGGGG others(50): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0151 | 1 | 380 | 0.0026 | -57 | c.-36 others(68): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3476 | chr13 | TogoVar | |||||||
CDC16_chr13_114229897_114277723 | 114238070 | ACCCAGCA others(50): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 380 | 0.0026 | -57 | c.202 others(72): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDC5L_chr6_44382706_44455425 | 44391062 | TTAATATG others(50): Show |
T | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 352 | 0.0028 | -57 | c.149 others(72): Show |
CDC5L | ENSG00000096401.8 | transcript | ENST00000371477.4 | protein_coding | 2/15 | chr6 | TogoVar | |||||||
CDCA2_chr8_25454233_25512911 | 25469705 | GATACACT others(50): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(306): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0016 others(290): Show |
309 | 326 | 0.9479 | -57 | c.736 others(72): Show |
CDCA2 | ENSG00000184661.14 | transcript | ENST00000330560.8 | protein_coding | 6/14 | chr8 | TogoVar | |||||||
CDH13_chr16_82621969_83805640 | 82652612 | CTAGAAAG others(50): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0014 | 1 | 110 | 0.0091 | -57 | c.45+ others(74): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH15_chr16_89166748_89200492 | 89192694 | ACGCCGCT others(50): Show |
A | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 406 | 0.0025 | -57 | c.185 others(74): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CEACAM19_chr19_44666482_44689355 | 44667832 | TTTATATA others(50): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01106.hp2 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0001g0042 others(4): Show |
18 | 390 | 0.0462 | -57 | c.-40 others(68): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 3649 | chr19 | TogoVar | |||||||
CEACAM6_chr19_41750530_41777211 | 41767873 | TGATATGT others(50): Show |
T | intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0077 | 1 | 426 | 0.0024 | -57 | c.*40 others(74): Show |
CEACAM6 | ENSG00000086548.9 | transcript | ENST00000199764.7 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
CEP72_chr5_607340_658553 | 650560 | GTGAGGTG others(50): Show |
G | intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0022 | 1 | 91 | 0.0110 | -57 | c.177 others(76): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87408455 | TGCGCACA others(50): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 376 | 0.0027 | -57 | c.-6+ others(70): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799672 | TATATATT others(50): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0003t0002a0002c0006t0001 | a0001c0001t0001g0018 a0001c0003t0002g0092 a0002c0006t0001g0088 |
3 | 96 | 0.0313 | -57 | c.334 others(76): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44338862 | TCCGGCTC others(50): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02451.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0005a0001c0002t0006a0001c0002t0007others(1): Show | a0001c0001t0005g0035 a0001c0001t0005g0205 a0001c0001t0005g0207 others(8): Show |
12 | 436 | 0.0275 | -57 | c.77+ others(70): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44338935 | CCCCGCCC others(50): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0239 | 1 | 436 | 0.0023 | -57 | c.77+ others(70): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50247784 | GTGGCTGC others(50): Show |
G | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 402 | 0.0025 | -57 | c.996 others(74): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 5/7 | chr18 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20356534 | AGGGGAGG others(50): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 NA19003.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0174 |
3 | 236 | 0.0127 | -57 | c.351 others(76): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114227423 | CAAATCAT others(50): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 400 | 0.0025 | -57 | c.*49 others(68): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 4339 | chr13 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33618397 | GTCTTCTT others(50): Show |
G | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 254 | 0.0039 | -57 | c.-40 others(68): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3555 | chr19 | TogoVar | |||||||
CMKLR2_chr2_206170316_206218371 | 206173037 | CGGGAGAG others(50): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 322 | 0.0031 | -57 | c.*30 others(68): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2278 | chr2 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246620198 | GGCACACT others(50): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 320 | 0.0031 | -57 | c.380 others(74): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146721768 | ATATATAT others(50): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0001 | 1 | 40 | 0.0250 | -57 | c.98- others(74): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CNTRL_chr9_121069955_121182610 | 121092685 | ATATATAT others(50): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0001g0236 |
3 | 330 | 0.0091 | -57 | c.349 others(74): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45498408 | GGGTCCCC others(50): Show |
G | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 292 | 0.0034 | -57 | c.268 others(74): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL20A1_chr20_63288186_63339806 | 63335834 | TATTCCAA others(50): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02280.hp1 others(11): Show |
a0001a0004a0007others(4): Show | a0001c0001a0004c0006a0007c0015others(4): Show | a0001c0001t0017a0004c0006t0004a0007c0015t0004others(4): Show | a0001c0001t0017g0134 a0001c0001t0017g0195 a0004c0006t0004g0031 others(11): Show |
14 | 290 | 0.0483 | -57 | c.*51 others(68): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 1029 | chr20 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109233483 | TCTGACTA others(50): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0026a0001c0006t0015 | a0001c0001t0001g0079 a0001c0001t0026g0046 a0001c0006t0015g0022 |
3 | 130 | 0.0231 | -57 | c.367 others(76): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110481892 | TGCTGGAG others(50): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0073 | a0002c0073t0002 | a0002c0073t0002g0213 | 1 | 372 | 0.0027 | -57 | c.275 others(74): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 31/47 | chr13 | TogoVar | |||||||
CPO_chr2_206934518_206974474 | 206958219 | GAATTAAA others(50): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02622.hp2 others(9): Show |
a0002a0004 | a0002c0002a0004c0009 | a0002c0002t0001a0004c0009t0001 | a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0166 others(8): Show |
12 | 422 | 0.0284 | -57 | c.268 others(70): Show |
CPO | ENSG00000144410.5 | transcript | ENST00000272852.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99434021 | CAGCCTGG others(50): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 others(83): Show |
92 | 364 | 0.2528 | -57 | c.-50 others(68): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 4921 | chr7 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53169784 | CCTTCCAC others(50): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 334 | 0.0030 | -57 | c.702 others(72): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 10/16 | chr12 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1296439 | CTCTCCTA others(50): Show |
C | intron_variant | MODIFIER | NA19087.hp2 | a0012 | a0012c0012 | a0012c0012t0004 | a0012c0012t0004g0089 | 1 | 159 | 0.0063 | -57 | c.810 others(74): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1314249 | CACCTGCC others(50): Show |
C | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 159 | 0.0063 | -57 | c.*47 others(68): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4315 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314262 | CCACTGCG others(50): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 159 | 0.0063 | -57 | c.*47 others(68): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4328 | chrX | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1314440 | ACTTGCCC others(50): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01981.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0076 a0001c0001t0001g0086 |
3 | 159 | 0.0189 | -57 | c.*49 others(68): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4506 | chrX | TogoVar |