| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANO5_chr11_22188085_22288357 | 22269248 | AAAGAAAG others(74): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0233 | 1 | 364 | 0.0028 | -81 | c.189 others(99): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AP3D1_chr19_2095988_2156566 | 2128862 | GCCCCCGC others(74): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01168.hp1 HG01168.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0093a0001c0001t0001g0121a0001c0001t0001g0130others(9): Show | 13 | 406 | 0.0320 | -81 | c.806 others(96): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | ||||||
| AP4E1_chr15_50903683_51010895 | 50907086 | GAGCGGGC others(74): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03041.hp1 |
a0005 | a0005c0007 | a0005c0007t0011 | a0005c0007t0011g0184a0005c0007t0011g0185 | 2 | 392 | 0.0051 | -81 | c.-16 others(92): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 1596 | chr15 | TogoVar | ||||||
| ARF4_chr3_57566363_57602344 | 57569693 | ATGGTGGC others(74): Show |
A | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 358 | 0.0028 | -81 | c.*24 others(92): Show |
ARF4 | ENSG00000168374.11 | transcript | ENST00000303436.11 | protein_coding | 1669 | chr3 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85487145 | CTTGTGTG others(74): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0005 | a0001c0005t0019 | a0001c0005t0019g0070 | 1 | 108 | 0.0093 | -81 | c.-21 others(100): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ARHGEF18_chr19_7343937_7477478 | 7362002 | AAGAAGAA others(74): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG02145.hp1 NA20129.hp1 |
a0002a0014 | a0002c0033a0014c0020 | a0002c0033t0010a0014c0020t0002 | a0002c0033t0010g0264a0014c0020t0002g0257a0014c0020t0002g0265 | 3 | 298 | 0.0101 | -81 | c.-11 others(98): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ARSH_chrX_3001546_3039111 | 3036867 | TTATATAA others(74): Show |
T | downstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 248 | 0.0040 | -81 | c.*34 others(92): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2757 | chrX | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049651 | GGAGAACA others(74): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 308 | 0.0033 | -81 | c.*49 others(92): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2452 | chr8 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130050188 | GGGGAATA others(74): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0153 | 1 | 308 | 0.0033 | -81 | c.*44 others(92): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 1915 | chr8 | TogoVar | ||||||
| ASAP2_chr2_9201812_9410678 | 9214515 | TAGGCGTG others(74): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0047 | 1 | 210 | 0.0048 | -81 | c.126 others(98): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ASMTL_chrX_1398139_1457909 | 1402810 | TCTTCCCC others(74): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0068 | 1 | 185 | 0.0054 | -81 | c.*37 others(90): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 328 | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1636890 | TCATGAGG others(74): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG02615.hp2 HG02818.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0002g0135a0001c0001t0002g0195others(10): Show | 13 | 223 | 0.0583 | -81 | c.910 others(96): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATCAY_chr19_3875685_3933082 | 3906682 | AGGCGACC others(74): Show |
A | intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 384 | 0.0026 | -81 | c.358 others(97): Show |
ATCAY | ENSG00000167654.18 | transcript | ENST00000450849.7 | protein_coding | 4/12 | chr19 | TogoVar | ||||||
| ATF7IP2_chr16_10381061_10488638 | 10485872 | CTAGTTGC others(74): Show |
C | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0240 | 1 | 376 | 0.0027 | -81 | c.*36 others(92): Show |
ATF7IP2 | ENSG00000166669.14 | transcript | ENST00000562102.6 | protein_coding | 2235 | chr16 | TogoVar | ||||||
| ATP10B_chr5_160558120_160857211 | 160783382 | TATATATA others(74): Show |
T | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0125 | 1 | 236 | 0.0042 | -81 | c.-33 others(100): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 2/25 | chr5 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112761550 | ATGCCCTG others(74): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 |
a0001a0004 | a0001c0002a0004c0015 | a0001c0002t0047a0004c0015t0002 | a0001c0002t0047g0112a0004c0015t0002g0052 | 2 | 254 | 0.0079 | -81 | c.40- others(98): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112761552 | GCCCTGGG others(74): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0191 | 1 | 254 | 0.0039 | -81 | c.40- others(98): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112761565 | GGAAGCAC others(74): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(118): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(60): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(118): Show | 121 | 254 | 0.4764 | -81 | c.40- others(98): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| ATP1A1_chr1_116368244_116409774 | 116369410 | GAAAAAAA others(74): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0002t0002a0001c0008t0004 | a0001c0001t0002g0038a0001c0001t0002g0056a0001c0001t0002g0131others(6): Show | 11 | 336 | 0.0327 | -81 | c.-41 others(92): Show |
ATP1A1 | ENSG00000163399.16 | transcript | ENST00000295598.10 | protein_coding | 3833 | chr1 | TogoVar | ||||||
| ATP6V1H_chr8_53710543_53848245 | 53840040 | ATTCCCAA others(74): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 286 | 0.0035 | -81 | c.113 others(98): Show |
ATP6V1H | ENSG00000047249.18 | transcript | ENST00000359530.7 | protein_coding | 2/13 | chr8 | TogoVar | ||||||
| BCAS3_chr17_60672851_61397831 | 61267198 | CAGGCATC others(74): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp1 HG03041.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0002g0064a0001c0004t0001g0049a0001c0004t0002g0044others(2): Show | 5 | 74 | 0.0676 | -81 | c.242 others(104): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BCL11A_chr2_60452194_60558654 | 60467369 | GTGATGAT others(74): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0031a0001c0001t0002g0110a0001c0001t0006g0239others(13): Show | 16 | 262 | 0.0611 | -81 | c.487 others(98): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467402 | ATGGTGAT others(74): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0021others(3): Show | a0001c0001t0005g0219a0001c0001t0018g0211a0001c0001t0021g0093others(3): Show | 6 | 262 | 0.0229 | -81 | c.487 others(98): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BCL11A_chr2_60452194_60558654 | 60467468 | GTGGTGGT others(74): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01256.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0049a0001c0001t0001g0058a0001c0001t0004g0082others(5): Show | 8 | 262 | 0.0305 | -81 | c.487 others(98): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
| BMPR1B_chr4_94752955_95163448 | 94832049 | TACAATGT others(74): Show |
T | intron_variant | MODIFIER | HG02257.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144a0001c0001t0002g0169 | 2 | 226 | 0.0089 | -81 | c.-18 others(102): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMPR1B_chr4_94752955_95163448 | 95116164 | TAAAGGGC others(74): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 1 | 226 | 0.0044 | -81 | c.349 others(96): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BPI_chr20_38299156_38342505 | 38313721 | GTGATGAT others(74): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00733.hp1 others(23): Show |
a0007a0025a0027others(3): Show | a0007c0007a0025c0029a0027c0030others(3): Show | a0007c0007t0001a0007c0007t0002a0025c0029t0002others(4): Show | a0007c0007t0001g0035a0007c0007t0001g0203a0007c0007t0001g0207others(19): Show | 26 | 426 | 0.0610 | -81 | c.600 others(98): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BTC_chr4_74739759_74799523 | 74777989 | AGAGTAAT others(74): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 360 | 0.0028 | -81 | c.65- others(96): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| C14orf119_chr14_23090505_23105456 | 23099182 | CCAAAGAA others(74): Show |
C | 3_prime_UTR_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0049 | 1 | 444 | 0.0023 | -81 | c.*11 others(92): Show |
C14orf119 | ENSG00000179933.6 | transcript | ENST00000319074.6 | protein_coding | 2/2 | 1102 | chr14 | TogoVar | |||||
| C21orf58_chr21_46296130_46328870 | 46302788 | GCCCGTCT others(74): Show |
G | intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 378 | 0.0027 | -81 | c.722 others(96): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
| C2orf74_chr2_61157188_61169828 | 61162042 | CAGGCAAC others(74): Show |
C | upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -81 | c.-37 others(90): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 145 | chr2 | TogoVar | ||||||
| CAB39L_chr13_49303650_49449064 | 49318544 | GGGAAAGG others(74): Show |
G | intron_variant | MODIFIER | HG02723.hp2 NA18612.hp2 NA18969.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0176a0001c0001t0002g0250a0001c0001t0002g0253others(2): Show | 5 | 324 | 0.0154 | -81 | c.835 others(98): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
| CACNG4_chr17_66959707_67038398 | 66968527 | GCCTCCTC others(74): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0277 | 1 | 352 | 0.0028 | -81 | c.220 others(98): Show |
CACNG4 | ENSG00000075461.6 | transcript | ENST00000262138.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CACNG7_chr19_53904278_53948950 | 53922174 | GTCCCAGG others(74): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 364 | 0.0028 | -81 | c.424 others(98): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| CACNG8_chr19_53957937_53995215 | 53962554 | TATTTATT others(74): Show |
T | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0140 | a0001c0001t0140g0203 | 1 | 394 | 0.0025 | -81 | c.-58 others(90): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 382 | chr19 | TogoVar | ||||||
| CADM2_chr3_84953989_86079429 | 85769109 | TGTATATA others(74): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03491.hp2 HG03492.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0003g0093a0001c0001t0004g0105a0001c0001t0012g0129others(2): Show | 5 | 146 | 0.0343 | -81 | c.89- others(98): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CAMKK1_chr17_3855315_3898053 | 3867988 | CACCGTCT others(74): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02818.hp1 NA18954.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0002t0007a0001c0002t0052others(1): Show | a0001c0002t0004g0122a0001c0002t0007g0158a0001c0002t0052g0183others(1): Show | 4 | 446 | 0.0090 | -81 | c.134 others(100): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
| CAMKK1_chr17_3855315_3898053 | 3868173 | TGGGGGAG others(74): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0072 | 1 | 446 | 0.0022 | -81 | c.134 others(100): Show |
CAMKK1 | ENSG00000004660.15 | transcript | ENST00000348335.7 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
| CAND1_chr12_67264358_67324953 | 67322011 | TGAGTTAG others(74): Show |
T | downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191 | 1 | 328 | 0.0031 | -81 | c.*91 others(92): Show |
CAND1 | ENSG00000111530.13 | transcript | ENST00000545606.6 | protein_coding | 2059 | chr12 | TogoVar | ||||||
| CCDC146_chr7_77117615_77300204 | 77180085 | ATACCATA others(74): Show |
A | intron_variant | MODIFIER | HG03225.hp1 NA19084.hp1 |
a0001a0003 | a0001c0007a0003c0017 | a0001c0007t0002a0003c0017t0001 | a0001c0007t0002g0030a0003c0017t0001g0057 | 2 | 248 | 0.0081 | -81 | c.156 others(100): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CCSER1_chr4_90122394_91610295 | 91496773 | TATTGAAT others(74): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 38 | 0.0263 | -81 | c.221 others(104): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CD163L1_chr12_7349960_7449153 | 7421304 | TATATACA others(74): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 HG02451.hp1 others(1): Show |
a0009a0010 | a0009c0018a0010c0042a0010c0043 | a0009c0018t0001a0009c0018t0002a0010c0042t0002others(1): Show | a0009c0018t0001g0355a0009c0018t0002g0356a0010c0042t0002g0354others(1): Show | 4 | 384 | 0.0104 | -81 | c.766 others(100): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
| CDH15_chr16_89166748_89200492 | 89196258 | GCCTGGCC others(74): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(168): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0018a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0018t0001others(24): Show | a0001c0001t0001g0005a0001c0001t0002g0004a0001c0001t0002g0225others(134): Show | 171 | 406 | 0.4212 | -81 | c.*11 others(92): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 767 | chr16 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61744511 | GGGAGAGG others(74): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG01123.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(8): Show | a0001c0001t0001g0049a0001c0001t0002g0059a0001c0001t0002g0078others(9): Show | 12 | 106 | 0.1132 | -81 | c.396 others(96): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CELF1_chr11_47460937_47558132 | 47541701 | AGAAAGAA others(74): Show |
A | intron_variant | MODIFIER | HG02273.hp2 HG04115.hp1 HG04199.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034a0001c0001t0003g0044a0001c0001t0003g0050others(1): Show | 4 | 340 | 0.0118 | -81 | c.-15 others(102): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
| CEMIP2_chr9_71678366_71773513 | 71739340 | TGACAGAG others(74): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01106.hp2 others(11): Show |
a0001a0006 | a0001c0009a0001c0038a0006c0021others(2): Show | a0001c0009t0001a0001c0009t0005a0001c0009t0006others(4): Show | a0001c0009t0001g0245a0001c0009t0001g0250a0001c0009t0005g0244others(11): Show | 14 | 320 | 0.0438 | -81 | c.120 others(98): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 5/23 | chr9 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132877762 | CGGGCCCG others(74): Show |
C | intron_variant | MODIFIER | NA18939.hp1 NA18967.hp2 |
a0002a0004 | a0002c0002a0004c0052 | a0002c0002t0001a0004c0052t0001 | a0002c0002t0001g0189a0004c0052t0001g0188 | 2 | 246 | 0.0081 | -81 | c.421 others(97): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 30/57 | chr10 | TogoVar | ||||||
| CFAP54_chr12_96484577_96880555 | 96827154 | ATTATATG others(74): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02976.hp2 HG03209.hp2 others(1): Show |
a0007a0023a0039 | a0007c0028a0023c0026a0039c0039 | a0007c0028t0001a0023c0026t0001a0039c0039t0001 | a0007c0028t0001g0182a0023c0026t0001g0031a0023c0026t0001g0047others(1): Show | 4 | 268 | 0.0149 | -81 | c.909 others(100): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP54_chr12_96484577_96880555 | 96827174 | ATGTGCAG others(74): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG03225.hp1 |
a0001a0019 | a0001c0001a0019c0023 | a0001c0001t0001a0019c0023t0001 | a0001c0001t0001g0050a0019c0023t0001g0038 | 2 | 268 | 0.0075 | -81 | c.909 others(100): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP54_chr12_96484577_96880555 | 96827228 | ATGTGCAG others(74): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG01891.hp2 others(2): Show |
a0013a0014a0015others(2): Show | a0013c0018a0014c0014a0015c0030others(2): Show | a0013c0018t0001a0014c0014t0001a0015c0030t0003others(2): Show | a0013c0018t0001g0254a0014c0014t0001g0162a0015c0030t0003g0192others(2): Show | 5 | 268 | 0.0187 | -81 | c.909 others(100): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 65/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |