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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV1_chr7_116520036_116566179 | 116555508 | GAAAGAAA others(43): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0242 | 1 | 325 | 0.0031 | -50 | c.196 others(67): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC126_chr7_23592382_23649708 | 23637274 | CCGGCCAG others(43): Show |
C | intron_variant | MODIFIER | NA18944.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0158 |
2 | 378 | 0.0053 | -50 | c.239 others(67): Show |
CCDC126 | ENSG00000169193.12 | transcript | ENST00000307471.8 | protein_coding | 3/3 | chr7 | TogoVar | |||||||
CCDC30_chr1_42458286_42662190 | 42575366 | TTGGCTGG others(43): Show |
T | intron_variant | MODIFIER | HG02015.hp1 NA19004.hp1 NA19084.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0016 | a0002c0003t0003g0013 a0002c0003t0003g0014 a0002c0003t0016g0022 |
3 | 322 | 0.0093 | -50 | c.132 others(69): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 11/20 | chr1 | TogoVar | |||||||
CCDC73_chr11_32597721_32799662 | 32755641 | GTGTATAT others(43): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02895.hp2 others(8): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0011 others(8): Show |
11 | 225 | 0.0489 | -50 | c.135 others(67): Show |
CCDC73 | ENSG00000186714.13 | transcript | ENST00000335185.10 | protein_coding | 2/17 | chr11 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 415274 | TAACATAA others(43): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0387 | 1 | 410 | 0.0024 | -50 | c.271 others(67): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC88A_chr2_55282842_55424856 | 55384550 | TGTATATA others(43): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0010 | 1 | 304 | 0.0033 | -50 | c.273 others(67): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
CCDC91_chr12_28185456_28555166 | 28441605 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0204 | 1 | 240 | 0.0042 | -50 | c.763 others(67): Show |
CCDC91 | ENSG00000123106.11 | transcript | ENST00000536442.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCL3_chr17_36083256_36095143 | 36091038 | ATATATAT others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 380 | 0.0026 | -50 | c.-10 others(60): Show |
CCL3 | ENSG00000277632.2 | transcript | ENST00000613922.2 | protein_coding | 896 | chr17 | TogoVar | |||||||
CCND1_chr11_69636156_69659474 | 69640425 | ATTTTATT others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0050 | 1 | 410 | 0.0024 | -50 | c.-88 others(59): Show |
CCND1 | ENSG00000110092.4 | transcript | ENST00000227507.3 | protein_coding | 730 | chr11 | TogoVar | |||||||
CCND1_chr11_69636156_69659474 | 69647853 | GGATGTGG others(43): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 410 | 0.0024 | -50 | c.575 others(64): Show |
CCND1 | ENSG00000110092.4 | transcript | ENST00000227507.3 | protein_coding | 3/4 | chr11 | TogoVar | |||||||
CCNY_chr10_35331509_35577667 | 35491857 | ACCCGCCT others(43): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 294 | 0.0034 | -50 | c.229 others(67): Show |
CCNY | ENSG00000108100.18 | transcript | ENST00000374704.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74465753 | TGTGTGTT others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18977.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0149 a0001c0001t0001g0150 |
3 | 420 | 0.0071 | -50 | c.-95 others(59): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 880 | chr17 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355430 | CGTATATG others(43): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 440 | 0.0023 | -50 | c.*23 others(61): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 270 | chr11 | TogoVar | |||||||
CD3G_chr11_118339344_118360161 | 118355540 | CATATGTA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 a0001c0001t0003g0057 a0001c0001t0003g0059 |
6 | 440 | 0.0136 | -50 | c.*24 others(61): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 380 | chr11 | TogoVar | |||||||
CD82_chr11_44560663_44625358 | 44570232 | CTGGCTGC others(43): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0320 | 1 | 370 | 0.0027 | -50 | c.-10 others(69): Show |
CD82 | ENSG00000085117.12 | transcript | ENST00000227155.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CDADC1_chr13_49242925_49298485 | 49275706 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0179 | 1 | 364 | 0.0027 | -50 | c.105 others(69): Show |
CDADC1 | ENSG00000102543.14 | transcript | ENST00000251108.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDADC1_chr13_49242925_49298485 | 49275712 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0178 | 1 | 340 | 0.0029 | -50 | c.105 others(69): Show |
CDADC1 | ENSG00000102543.14 | transcript | ENST00000251108.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDADC1_chr13_49242925_49298485 | 49275714 | TATATATA others(43): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0162 | 1 | 325 | 0.0031 | -50 | c.105 others(69): Show |
CDADC1 | ENSG00000102543.14 | transcript | ENST00000251108.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CDC25A_chr3_48152146_48193417 | 48191742 | CATATATA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0088 others(6): Show |
11 | 337 | 0.0326 | -50 | c.-38 others(61): Show |
CDC25A | ENSG00000164045.12 | transcript | ENST00000302506.8 | protein_coding | 3326 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45108816 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA18992.hp2 |
a0001a0010 | a0001c0008a0010c0024 | a0001c0008t0005a0010c0024t0010 | a0001c0008t0005g0076 a0010c0024t0010g0184 |
2 | 380 | 0.0053 | -50 | c.102 others(69): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
CDCP1_chr3_45077277_45151378 | 45108865 | GTATATAT others(43): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0072 | 1 | 366 | 0.0027 | -50 | c.102 others(69): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
CDH26_chr20_59953423_60019529 | 59953939 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 285 | 0.0035 | -50 | c.-47 others(61): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4483 | chr20 | TogoVar | |||||||
CDH26_chr20_59953423_60019529 | 59953945 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG04228.hp1 | a0006 | a0006c0011 | a0006c0011t0009 | a0006c0011t0009g0048 | 1 | 284 | 0.0035 | -50 | c.-47 others(61): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4477 | chr20 | TogoVar | |||||||
CDH26_chr20_59953423_60019529 | 59953947 | TATATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0008 | a0008c0008t0020 | a0008c0008t0020g0209 | 1 | 285 | 0.0035 | -50 | c.-47 others(61): Show |
CDH26 | ENSG00000124215.17 | transcript | ENST00000348616.9 | protein_coding | 4475 | chr20 | TogoVar | |||||||
CDH3_chr16_68640310_68705292 | 68683656 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01516.hp2 HG01517.hp1 others(3): Show |
a0001a0002 | a0001c0005a0001c0007a0002c0002 | a0001c0005t0004a0001c0007t0005a0002c0002t0001others(1): Show | a0001c0005t0004g0215 a0001c0005t0004g0216 a0001c0007t0005g0283 others(3): Show |
6 | 336 | 0.0179 | -50 | c.118 others(67): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61671929 | GGATGGAT others(43): Show |
G | intron_variant | MODIFIER | HG04115.hp2 HG04204.hp2 |
a0002 | a0002c0005a0002c0009 | a0002c0005t0005a0002c0009t0031 | a0002c0005t0005g0103 a0002c0009t0031g0009 |
2 | 106 | 0.0189 | -50 | c.170 others(69): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61723886 | GGGTCCCC others(43): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00738.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0044a0001c0003t0029a0001c0003t0035others(17): Show | a0001c0001t0044g0085 a0001c0003t0029g0040 a0001c0003t0035g0043 others(20): Show |
23 | 105 | 0.2190 | -50 | c.170 others(69): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61942997 | TGAGGAGC others(43): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01109.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(11): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0002g0007 others(15): Show |
18 | 91 | 0.1978 | -50 | c.*60 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2381 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943034 | TTCTCACC others(43): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG01109.hp2 others(4): Show |
a0001a0002 | a0001c0021a0001c0022a0002c0005others(1): Show | a0001c0021t0005a0001c0022t0010a0002c0005t0005others(3): Show | a0001c0021t0005g0047 a0001c0022t0010g0071 a0002c0005t0005g0103 others(4): Show |
7 | 87 | 0.0805 | -50 | c.*60 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2418 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943095 | CACGAGGA others(43): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03195.hp1 NA18906.hp1 |
a0001a0003 | a0001c0012a0003c0017a0003c0018 | a0001c0012t0001a0003c0017t0002a0003c0018t0043 | a0001c0012t0001g0008 a0003c0017t0002g0053 a0003c0018t0043g0052 |
3 | 85 | 0.0353 | -50 | c.*61 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2479 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943317 | TGCACCGT others(43): Show |
T | downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0101 | 1 | 71 | 0.0141 | -50 | c.*63 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2701 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943414 | GTCTGCAC others(43): Show |
G | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02809.hp2 |
a0001a0003 | a0001c0011a0003c0018 | a0001c0011t0005a0003c0018t0043 | a0001c0011t0005g0003 a0003c0018t0043g0052 |
2 | 93 | 0.0215 | -50 | c.*64 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2798 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943545 | GACGAGGA others(43): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0018a0001c0011t0005 | a0001c0001t0018g0091 a0001c0011t0005g0101 |
2 | 95 | 0.0211 | -50 | c.*66 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2929 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61943866 | CTGCCCCG others(43): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0091 | 1 | 106 | 0.0094 | -50 | c.*69 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3250 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61944321 | CGACGACG others(43): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 92 | 0.0109 | -50 | c.*73 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3705 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61945090 | TGTATGCA others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0017 | 1 | 74 | 0.0135 | -50 | c.*81 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4474 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61945430 | GCACTGCG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0027 | 1 | 93 | 0.0108 | -50 | c.*84 others(61): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4814 | chr20 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591896 | GTGTTGGT others(43): Show |
G | intron_variant | MODIFIER | HG01928.hp1 NA19012.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0105 a0001c0006t0001g0111 |
2 | 342 | 0.0058 | -50 | c.373 others(67): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90895324 | TCCTTTCC others(43): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0167 | 1 | 166 | 0.0060 | -50 | c.640 others(67): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDK14_chr7_90591321_91215590 | 90895328 | TTCCTCTC others(43): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 1 | 160 | 0.0063 | -50 | c.640 others(67): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDK2AP1_chr12_123255976_123276856 | 123273645 | AGCCAATA others(43): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 326 | 0.0031 | -50 | c.-20 others(61): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 1790 | chr12 | TogoVar | |||||||
CDKL4_chr2_39170646_39248970 | 39185394 | ATATACAT others(43): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0214 a0001c0001t0003g0193 |
2 | 285 | 0.0070 | -50 | c.736 others(65): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CDKN2A_chr9_21962752_21999392 | 21981042 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0340 | 1 | 393 | 0.0025 | -50 | c.194 others(67): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | |||||||
CDYL_chr6_4771404_4960544 | 4900777 | GTGTATAT others(43): Show |
G | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 248 | 0.0040 | -50 | c.691 others(67): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532515 | GAGAAAGA others(43): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0298 | 1 | 426 | 0.0023 | -50 | c.-30 others(61): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2841 | chr19 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17419520 | GAAGAAGA others(43): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0316 | 1 | 322 | 0.0031 | -50 | c.126 others(69): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46414574 | ACGCAGGC others(43): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03579.hp2 others(1): Show |
a0002a0019a0027others(1): Show | a0002c0015a0019c0068a0027c0057others(1): Show | a0002c0015t0001a0019c0068t0005a0027c0057t0004others(1): Show | a0002c0015t0001g0022 a0019c0068t0005g0001 a0027c0057t0004g0096 others(1): Show |
4 | 93 | 0.0430 | -50 | c.461 others(69): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 5/34 | chr22 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24817542 | GTGAGATT others(43): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 380 | 0.0026 | -50 | c.767 others(64): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92552012 | ATGATATG others(43): Show |
A | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 260 | 0.0038 | -50 | c.565 others(69): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 608766 | TGTGGGAG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(59): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0007 | a0001c0001t0001a0002c0002t0001a0005c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(57): Show |
62 | 90 | 0.6889 | -50 | c.-35 others(61): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 3573 | chr5 | TogoVar |