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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOP1_chr8_144257045_144296438 | 144281029 | CTTTAATA others(113): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 398 | 0.0025 | -120 | c.310 others(17): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281144 | TCTCAGTT others(113): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0040 | 1 | 398 | 0.0025 | -120 | c.310 others(17): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BOP1_chr8_144257045_144296438 | 144281444 | TCTCAGTT others(113): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 398 | 0.0025 | -120 | c.310 others(17): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605436 | TATTATAT others(113): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02895.hp1 others(2): Show |
a0005 | a0005c0007a0005c0032a0005c0034 | a0005c0007t0007a0005c0007t0033a0005c0007t0034others(2): Show | a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 others(2): Show |
5 | 186 | 0.0269 | -120 | c.225 others(19): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1077257 | TGGGGACT others(113): Show |
T | downstream_gene_variant | MODIFIER | HG03942.hp2 NA18970.hp2 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0005c0011t0003 | a0001c0001t0001g0001 a0005c0011t0003g0088 |
2 | 326 | 0.0061 | -120 | c.*55 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4565 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077271 | CGGGAGGC others(113): Show |
C | downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 326 | 0.0031 | -120 | c.*55 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4551 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077287 | TGGGGACT others(113): Show |
T | downstream_gene_variant | MODIFIER | NA18966.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0070 | 1 | 326 | 0.0031 | -120 | c.*54 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4535 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077509 | GGGGGGAG others(113): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02647.hp1 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0048 a0001c0001t0009g0229 a0001c0001t0009g0231 |
3 | 326 | 0.0092 | -120 | c.*52 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4313 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1077541 | CGAGAGGC others(113): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01884.hp2 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0269 a0001c0001t0007g0105 a0001c0001t0007g0143 others(6): Show |
9 | 326 | 0.0276 | -120 | c.*52 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4281 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078295 | TGGCTGAG others(113): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0131 | 1 | 326 | 0.0031 | -120 | c.*44 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3527 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078741 | GGGGAGGC others(113): Show |
G | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 326 | 0.0031 | -120 | c.*40 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3081 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078890 | GGGGGAGG others(113): Show |
G | downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0117 | 1 | 326 | 0.0031 | -120 | c.*38 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 2932 | chr1 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23218258 | ACATCCTC others(113): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0012 | a0001c0012t0015 | a0001c0012t0015g0081 | 1 | 278 | 0.0036 | -120 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218372 | GCTCCCGC others(113): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02523.hp2 NA18982.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0271 a0001c0001t0002g0213 a0001c0001t0004g0251 others(2): Show |
5 | 278 | 0.0180 | -120 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218420 | CCTCCCGC others(113): Show |
C | intron_variant | MODIFIER | HG02027.hp1 NA19074.hp2 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0001 | a0001c0001t0001g0062 a0001c0001t0011g0209 a0002c0002t0001g0160 |
3 | 278 | 0.0108 | -120 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23218492 | CCTCCCGC others(113): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0007 | a0007c0013 | a0007c0013t0026 | a0007c0013t0026g0002 | 1 | 278 | 0.0036 | -120 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12623151 | TCCTCCCT others(113): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0142 | 1 | 214 | 0.0047 | -120 | c.225 others(19): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKK1_chr17_3855315_3898053 | 3868050 | ATCTGGGG others(113): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02523.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0005 | a0001c0002t0001g0272 a0002c0001t0005g0126 |
2 | 446 | 0.0045 | -120 | c.134 others(19): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CAMKK1_chr17_3855315_3898053 | 3868071 | AGTCTAAC others(113): Show |
A | intron_variant | MODIFIER | HG03130.hp1 NA19083.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0037 | a0001c0002t0001g0225 a0001c0002t0037g0021 |
2 | 446 | 0.0045 | -120 | c.134 others(19): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
CARD10_chr22_37485362_37524415 | 37509593 | TCCACGAG others(113): Show |
T | intron_variant | MODIFIER | HG03209.hp1 HG03453.hp1 NA20129.hp1 |
a0001a0003 | a0001c0025a0003c0018 | a0001c0025t0002a0003c0018t0002 | a0001c0025t0002g0020 a0003c0018t0002g0047 a0003c0018t0002g0048 |
3 | 276 | 0.0109 | -120 | c.909 others(15): Show |
CARD10 | ENSG00000100065.15 | transcript | ENST00000251973.10 | protein_coding | 4/19 | chr22 | TogoVar | |||||||
CASP3_chr4_184622696_184654447 | 184624483 | GGCCTCCA others(113): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0170 a0001c0001t0002g0187 a0001c0001t0003g0004 others(25): Show |
47 | 366 | 0.1284 | -120 | c.*46 others(11): Show |
CASP3 | ENSG00000164305.20 | transcript | ENST00000308394.9 | protein_coding | 3212 | chr4 | TogoVar | |||||||
CASP8_chr2_201255536_201292709 | 201283654 | CGCCCCTC others(113): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG02071.hp1 HG02074.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 a0001c0001t0003g0173 a0001c0001t0003g0177 others(1): Show |
5 | 386 | 0.0130 | -120 | c.803 others(17): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10744344 | CGGCACCA others(113): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01433.hp2 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(4): Show | a0001c0001t0001g0132 a0001c0001t0001g0232 a0001c0001t0006g0072 others(5): Show |
8 | 236 | 0.0339 | -120 | c.-77 others(19): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
CDH23_chr10_71391920_71820947 | 71496824 | GGTGTACA others(113): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(107): Show |
a0001a0002a0003others(65): Show | a0001c0011a0001c0014a0001c0072others(89): Show | a0001c0011t0004a0001c0014t0031a0001c0072t0003others(98): Show | a0001c0011t0004g0071 a0001c0011t0004g0086 a0001c0014t0031g0029 others(107): Show |
110 | 196 | 0.5612 | -120 | c.146 others(19): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 3/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CDH7_chr18_65746012_65895337 | 65782016 | CTCTCTCT others(113): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01257.hp1 HG01258.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0001t0047a0001c0001t0078others(6): Show | a0001c0001t0002g0029 a0001c0001t0047g0091 a0001c0001t0078g0149 others(11): Show |
14 | 208 | 0.0673 | -120 | c.210 others(19): Show |
CDH7 | ENSG00000081138.14 | transcript | ENST00000397968.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CFAP221_chr2_119539449_119661661 | 119552710 | TAGAAATA others(113): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG01978.hp2 others(10): Show |
a0001a0009 | a0001c0001a0001c0007a0009c0015 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(9): Show |
13 | 226 | 0.0575 | -120 | c.240 others(17): Show |
CFAP221 | ENSG00000163075.13 | transcript | ENST00000413369.8 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFAP54_chr12_96484577_96880555 | 96825366 | TTATGTAA others(113): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0038 | 1 | 268 | 0.0037 | -120 | c.909 others(19): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20357513 | GAGGGGAG others(113): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 a0002c0002t0001g0023 |
2 | 236 | 0.0085 | -120 | c.351 others(19): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | chr20 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126865085 | TTCCTCCT others(113): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02809.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0002g0094 |
3 | 216 | 0.0139 | -120 | c.495 others(19): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHEK1_chr11_125620163_125662147 | 125659132 | ACTAGTCT others(113): Show |
A | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 384 | 0.0026 | -120 | c.*38 others(11): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 1986 | chr11 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763524 | CCCCCCGC others(113): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 413 | 0.0024 | -120 | c.-48 others(9): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 264 | chr8 | TogoVar | |||||||
CNGA1_chr4_47930977_48021681 | 47976161 | ATATATAT others(113): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0076 a0002c0002t0002g0097 |
2 | 366 | 0.0055 | -120 | c.-15 others(17): Show |
CNGA1 | ENSG00000198515.16 | transcript | ENST00000514170.7 | protein_coding | 3/10 | chr4 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178448110 | ACAGTCCG others(113): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(51): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0049 a0001c0001t0002g0150 a0001c0001t0002g0202 others(51): Show |
54 | 236 | 0.2288 | -120 | c.361 others(21): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178525250 | AGGACCCG others(113): Show |
A | intron_variant | MODIFIER | HG03017.hp2 HG03239.hp2 HG03669.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0003g0027 a0001c0001t0004g0174 a0001c0004t0001g0070 others(2): Show |
5 | 236 | 0.0212 | -120 | c.361 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385435 | CTGGATAG others(113): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(43): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0153 a0001c0001t0002g0306 a0001c0001t0002g0338 others(43): Show |
46 | 372 | 0.1237 | -120 | c.180 others(19): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134849298 | AGGAACCA others(113): Show |
A | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 | 1 | 272 | 0.0037 | -120 | c.*69 others(11): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4456 | chr9 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134437 | CAGGTTTA others(113): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0250 | 1 | 372 | 0.0027 | -120 | c.*49 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4637 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134437 | CAGGTTTA others(113): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0247 | 1 | 364 | 0.0028 | -120 | c.*18 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1590 | chr21 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62813162 | GGAGCCCA others(113): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0007 a0001c0002t0003g0007 |
2 | 412 | 0.0049 | -120 | c.-39 others(11): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 3887 | chr20 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62813193 | AGCAGGAC others(113): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01257.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0003g0007 |
3 | 412 | 0.0073 | -120 | c.-38 others(11): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 3856 | chr20 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62813271 | CGAGCCAG others(113): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp1 others(47): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0025 others(42): Show |
50 | 412 | 0.1214 | -120 | c.-37 others(11): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 3778 | chr20 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69236234 | ATAGCATA others(113): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(69): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0038a0001c0002t0001others(14): Show | a0001c0001t0003g0001 a0001c0001t0003g0063 a0001c0001t0003g0067 others(54): Show |
72 | 392 | 0.1837 | -120 | c.-34 others(11): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3334 | chr12 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1264232 | AGCCTTTG others(113): Show |
A | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0159 | 1 | 159 | 0.0063 | -120 | c.-47 others(11): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4581 | chrX | TogoVar | |||||||
CTBP1_chr4_1206445_1254130 | 1252668 | CAGTCACC others(113): Show |
C | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 422 | 0.0024 | -120 | c.-40 others(11): Show |
CTBP1 | ENSG00000159692.18 | transcript | ENST00000382952.8 | protein_coding | 3539 | chr4 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79739776 | AGGACGGG others(113): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 378 | 0.0027 | -120 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103014612 | ATATGTAT others(113): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 |
a0003 | a0003c0003 | a0003c0003t0034 | a0003c0003t0034g0202 a0003c0003t0034g0203 |
2 | 448 | 0.0045 | -120 | c.*81 others(19): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP21A2_chr6_32033415_32046644 | 32043718 | ACCTCTTG others(113): Show |
A | downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 459 | 0.0022 | -120 | c.*25 others(11): Show |
CYP21A2 | ENSG00000231852.9 | transcript | ENST00000644719.2 | protein_coding | 2075 | chr6 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15931525 | CAGAGGAA others(113): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA18963.hp2 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0001a0004c0007t0112 | a0001c0002t0001g0225 a0004c0007t0112g0212 |
2 | 386 | 0.0052 | -120 | c.199 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15931989 | GGAATGAG others(113): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp2 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0173a0003c0003t0124 | a0002c0001t0173g0375 a0003c0003t0124g0117 |
2 | 386 | 0.0052 | -120 | c.198 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15932143 | AGGAGAAG others(113): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0008 | a0008c0030 | a0008c0030t0020 | a0008c0030t0020g0287 | 1 | 386 | 0.0026 | -120 | c.198 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar |