| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CDR2L_chr17_74982632_75010800 | 75010744 | GGGTCCTA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02145.hp2 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0012others(1): Show | a0001c0003t0004g0026a0001c0003t0004g0059a0001c0003t0004g0063others(11): Show | 18 | 352 | 0.0511 | -11 | c.*66 others(22): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 4945 | chr17 | TogoVar | ||||||
| CDR2_chr16_22340936_22379619 | 22360739 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01070.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0015others(17): Show | 45 | 310 | 0.1452 | -11 | c.192 others(28): Show |
CDR2 | ENSG00000140743.8 | transcript | ENST00000268383.7 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
| CDR2_chr16_22340936_22379619 | 22369291 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047a0001c0001t0004g0168a0001c0001t0004g0174 | 4 | 310 | 0.0129 | -11 | c.80- others(26): Show |
CDR2 | ENSG00000140743.8 | transcript | ENST00000268383.7 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
| CDS2_chr20_5122008_5202887 | 5124647 | CAAACAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0060 | 1 | 348 | 0.0029 | -11 | c.-24 others(22): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 2360 | chr20 | TogoVar | ||||||
| CDS2_chr20_5122008_5202887 | 5151750 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02895.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0056a0001c0001t0057others(1): Show | a0001c0001t0020g0020a0001c0001t0020g0317a0001c0001t0020g0319others(3): Show | 6 | 348 | 0.0172 | -11 | c.58- others(28): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDT1_chr16_88798789_88814258 | 88812783 | TGGCGCCA others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18993.hp1 NA19057.hp2 NA19081.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0001 | 3 | 444 | 0.0068 | -11 | c.*45 others(22): Show |
CDT1 | ENSG00000167513.9 | transcript | ENST00000301019.9 | protein_coding | 3526 | chr16 | TogoVar | ||||||
| CDYL2_chr16_80592907_80809598 | 80672518 | CAAAGCAA others(4): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02735.hp1 NA18947.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006 | a0001c0002t0002g0102a0001c0002t0004g0144a0001c0002t0006g0034 | 3 | 258 | 0.0116 | -11 | c.616 others(30): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
| CDYL2_chr16_80592907_80809598 | 80700935 | GCAGCTAA others(4): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0039a0001c0005t0014 | a0001c0002t0039g0229a0001c0005t0014g0228 | 2 | 258 | 0.0078 | -11 | c.25- others(28): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| CDYL2_chr16_80592907_80809598 | 80748506 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02647.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0012 | a0001c0002t0004g0015a0001c0002t0004g0016a0001c0002t0012g0212 | 3 | 258 | 0.0116 | -11 | c.24+ others(28): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
| CDYL_chr6_4771404_4960544 | 4852583 | TCTTCCTT others(4): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0125 | 1 | 250 | 0.0040 | -11 | c.25- others(28): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDYL_chr6_4771404_4960544 | 4938717 | ATAGTATC others(4): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0164a0001c0005t0002g0167 | 2 | 250 | 0.0080 | -11 | c.112 others(28): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CEACAM20_chr19_44501159_44534675 | 44532514 | AGAGAAAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01934.hp2 others(5): Show |
a0001a0005a0008others(2): Show | a0001c0001a0005c0005a0008c0006others(2): Show | a0001c0001t0001a0005c0005t0003a0008c0006t0001others(2): Show | a0001c0001t0001g0225a0001c0001t0001g0226a0005c0005t0003g0028others(5): Show | 8 | 438 | 0.0183 | -11 | c.-30 others(22): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2840 | chr19 | TogoVar | ||||||
| CEACAM7_chr19_41668303_41693270 | 41689218 | GTTTGTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02258.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0175a0001c0001t0002g0178others(1): Show | 7 | 412 | 0.0170 | -11 | c.-10 others(22): Show |
CEACAM7 | ENSG00000007306.15 | transcript | ENST00000401731.6 | protein_coding | 949 | chr19 | TogoVar | ||||||
| CEACAM8_chr19_42575243_42599924 | 42581917 | AAAAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 314 | 0.0032 | -11 | c.*41 others(26): Show |
CEACAM8 | ENSG00000124469.12 | transcript | ENST00000244336.10 | protein_coding | 5/5 | chr19 | TogoVar | ||||||
| CEBPG_chr19_33368709_33387686 | 33385053 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 NA19240.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 | 3 | 436 | 0.0069 | -11 | c.*53 others(22): Show |
CEBPG | ENSG00000153879.9 | transcript | ENST00000284000.9 | protein_coding | 2368 | chr19 | TogoVar | ||||||
| CEBPZOS_chr2_37191496_37209743 | 37202644 | CAAAAAAA others(4): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0053 | a0001c0001t0012g0003a0001c0001t0012g0034a0001c0001t0053g0003 | 8 | 466 | 0.0172 | -11 | c.*82 others(20): Show |
CEBPZOS | ENSG00000218739.10 | transcript | ENST00000402297.6 | protein_coding | 5/5 | 958 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
| CEBPZ_chr2_37196612_37236596 | 37202644 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02145.hp2 others(6): Show |
a0001a0003 | a0001c0004a0001c0014a0003c0005 | a0001c0004t0001a0001c0014t0001a0003c0005t0001 | a0001c0004t0001g0031a0001c0004t0001g0077a0001c0004t0001g0078others(5): Show | 9 | 438 | 0.0206 | -11 | c.302 others(28): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 15/15 | chr2 | TogoVar | ||||||
| CEBPZ_chr2_37196612_37236596 | 37209837 | AATAGACA others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0003a0012c0021others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0136a0001c0001t0001g0141a0001c0001t0001g0180others(55): Show | 93 | 438 | 0.2123 | -11 | c.288 others(30): Show |
CEBPZ | ENSG00000115816.15 | transcript | ENST00000234170.10 | protein_coding | 13/15 | chr2 | TogoVar | ||||||
| CECR2_chr22_17364460_17563151 | 17405639 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01884.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0093a0001c0001t0002g0021a0001c0001t0002g0200others(34): Show | 37 | 324 | 0.1142 | -11 | c.126 others(30): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17463089 | AGACAGTG others(4): Show |
A | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0301 | 1 | 324 | 0.0031 | -11 | c.127 others(30): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17482115 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02071.hp1 HG03688.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(1): Show | a0001c0001t0002g0234a0001c0001t0003g0170a0001c0001t0018g0310others(1): Show | 4 | 324 | 0.0124 | -11 | c.221 others(28): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17505534 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00323.hp2 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0021a0001c0001t0011g0085 | 2 | 324 | 0.0062 | -11 | c.870 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17525285 | CCAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0004 | a0004c0004t0033 | a0004c0004t0033g0282 | 1 | 324 | 0.0031 | -11 | c.110 others(30): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | ||||||
| CELA2A_chr1_15451732_15477091 | 15474609 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03130.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0032a0001c0001t0001g0077a0001c0001t0001g0115others(2): Show | 6 | 430 | 0.0140 | -11 | c.*26 others(22): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2519 | chr1 | TogoVar | ||||||
| CELA2B_chr1_15471104_15496395 | 15474609 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0176a0001c0001t0001g0181a0001c0003t0001g0054others(2): Show | 6 | 414 | 0.0145 | -11 | c.-15 others(22): Show |
CELA2B | ENSG00000215704.10 | transcript | ENST00000375910.8 | protein_coding | 1494 | chr1 | TogoVar | ||||||
| CELA2B_chr1_15471104_15496395 | 15494862 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 414 | 0.0024 | -11 | c.*35 others(22): Show |
CELA2B | ENSG00000215704.10 | transcript | ENST00000375910.8 | protein_coding | 3468 | chr1 | TogoVar | ||||||
| CELA3B_chr1_21972022_21994354 | 21993469 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 444 | 0.0023 | -11 | c.*41 others(22): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 4116 | chr1 | TogoVar | ||||||
| CELF1_chr11_47460937_47558132 | 47493507 | CAAAAAGA others(4): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02896.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0024a0001c0003t0011 | a0001c0001t0001g0319a0001c0001t0024g0320a0001c0003t0011g0308others(1): Show | 4 | 340 | 0.0118 | -11 | c.72- others(26): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3/14 | chr11 | TogoVar | ||||||
| CELF1_chr11_47460937_47558132 | 47556610 | CCCATAAT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 340 | 0.0029 | -11 | c.-37 others(22): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 3479 | chr11 | TogoVar | ||||||
| CELF2_chr10_11012872_11341675 | 11197072 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG01952.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0003t0004others(2): Show | a0001c0001t0001g0026a0001c0001t0011g0157a0001c0003t0004g0024others(3): Show | 6 | 194 | 0.0309 | -11 | c.272 others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11228718 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0046a0001c0004t0001 | a0001c0001t0001g0031a0001c0001t0001g0097a0001c0001t0001g0109others(2): Show | 5 | 194 | 0.0258 | -11 | c.354 others(30): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11255833 | ACATATCA others(4): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0173 | 1 | 194 | 0.0052 | -11 | c.404 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11262940 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02559.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0055a0001c0002t0009g0057 | 2 | 194 | 0.0103 | -11 | c.539 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11281206 | GAGCTGTC others(4): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033a0001c0002t0001g0067 | 2 | 194 | 0.0103 | -11 | c.841 others(28): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CELF3_chr1_151695058_151721803 | 151695410 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 2 | 432 | 0.0046 | -11 | c.*80 others(22): Show |
CELF3 | ENSG00000159409.15 | transcript | ENST00000290583.9 | protein_coding | 4647 | chr1 | TogoVar | ||||||
| CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0115a0001c0001t0002g0158a0001c0001t0003g0080others(3): Show | 6 | 262 | 0.0229 | -11 | c.*46 others(22): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
| CELF6_chr15_72279727_72325157 | 72317668 | CAATCATC others(4): Show |
C | intron_variant | MODIFIER | HG02080.hp1 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141a0001c0001t0001g0142 | 2 | 300 | 0.0067 | -11 | c.263 others(28): Show |
CELF6 | ENSG00000140488.16 | transcript | ENST00000287202.10 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
| CELSR1_chr22_46356174_46542620 | 46467606 | AGTTCAGG others(4): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0051 | a0002c0051t0003 | a0002c0051t0003g0053 | 1 | 104 | 0.0096 | -11 | c.354 others(30): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
| CELSR1_chr22_46356174_46542620 | 46498291 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0049 | a0049c0062 | a0049c0062t0013 | a0049c0062t0013g0100 | 1 | 104 | 0.0096 | -11 | c.354 others(32): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
| CELSR1_chr22_46356174_46542620 | 46504510 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01109.hp1 others(6): Show |
a0001a0003a0005others(6): Show | a0001c0029a0003c0005a0005c0019others(6): Show | a0001c0029t0001a0003c0005t0002a0005c0019t0001others(6): Show | a0001c0029t0001g0038a0003c0005t0002g0065a0005c0019t0001g0024others(6): Show | 9 | 104 | 0.0865 | -11 | c.354 others(32): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
| CELSR1_chr22_46356174_46542620 | 46508292 | CAGGTGTG others(4): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0040 | a0001c0040t0001 | a0001c0040t0001g0088 | 1 | 104 | 0.0096 | -11 | c.354 others(32): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
| CEMIP2_chr9_71678366_71773513 | 71732686 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03579.hp1 |
a0001a0016 | a0001c0001a0016c0031 | a0001c0001t0001a0001c0001t0006a0016c0031t0026 | a0001c0001t0001g0277a0001c0001t0006g0266a0016c0031t0026g0261 | 3 | 320 | 0.0094 | -11 | c.139 others(28): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | ||||||
| CEMIP_chr15_80774370_80956771 | 80814043 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02027.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216a0001c0001t0002g0224 | 2 | 254 | 0.0079 | -11 | c.-17 others(32): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CEMP1_chr16_2525035_2536408 | 2533430 | ATTTTTTT others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 348 | 0.0029 | -11 | c.-23 others(22): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | ||||||
| CENPE_chr4_103100811_103203343 | 103113438 | TATATTAC others(4): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0306 | 1 | 320 | 0.0031 | -11 | c.754 others(30): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 46/48 | chr4 | TogoVar | ||||||
| CENPE_chr4_103100811_103203343 | 103199383 | CTCTCTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02615.hp1 others(1): Show |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0295a0006c0008t0001g0296a0006c0008t0001g0297others(1): Show | 4 | 320 | 0.0125 | -11 | c.-10 others(22): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 1041 | chr4 | TogoVar | ||||||
| CENPH_chr5_69184583_69215357 | 69200719 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp1 NA18985.hp1 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0162a0001c0001t0001g0206a0001c0001t0002g0080 | 3 | 388 | 0.0077 | -11 | c.372 others(28): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CENPH_chr5_69184583_69215357 | 69212427 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 388 | 0.0026 | -11 | c.*26 others(22): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 2071 | chr5 | TogoVar | ||||||
| CENPI_chrX_101093204_101171126 | 101156007 | CTCTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(7): Show | a0001c0001t0002g0208a0001c0002t0002g0005a0001c0002t0002g0027others(78): Show | 82 | 282 | 0.2908 | -11 | c.209 others(30): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CENPK_chr5_65512766_65568168 | 65514252 | TTTTTTTT others(4): Show |
T | downstream_gene_variant | MODIFIER | NA18942.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0031 | 2 | 374 | 0.0054 | -11 | c.*42 others(22): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 3513 | chr5 | TogoVar |