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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKL2_chr4_75571496_75635528 | 75619577 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0026 | a0001c0001t0003g0001a0001c0001t0003g0007a0001c0001t0003g0008others(32): Show | 36 | 306 | 0.1177 | -7 | c.169 others(24): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
CDKL2_chr4_75571496_75635528 | 75623471 | AAAGTCAT | A | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02809.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0009a0003c0003t0009a0003c0003t0022 | a0001c0001t0009g0088a0001c0001t0009g0089a0001c0001t0009g0090others(4): Show | 7 | 306 | 0.0229 | -7 | c.168 others(24): Show |
CDKL2 | ENSG00000138769.11 | transcript | ENST00000307465.9 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
CDKL3_chr5_134293424_134372171 | 134351591 | GTCCTACA | G | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 210 | 0.0095 | -7 | c.361 others(24): Show |
CDKL3 | ENSG00000006837.12 | transcript | ENST00000265334.9 | protein_coding | 3/12 | chr5 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39188560 | CAAAAAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0215others(3): Show | 6 | 290 | 0.0207 | -7 | c.653 others(22): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 6/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39241481 | ATCCTTTC | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(140): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(138): Show | 143 | 290 | 0.4931 | -7 | c.-57 others(24): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39243113 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01123.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0195a0001c0001t0001g0196others(8): Show | 11 | 290 | 0.0379 | -7 | c.-57 others(22): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 1/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18480857 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00738.hp1 others(56): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0025a0001c0001t0001g0043a0001c0001t0001g0044others(56): Show | 59 | 192 | 0.3073 | -7 | c.-16 others(28): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18493845 | AGATGTCT | A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0005 | 1 | 192 | 0.0052 | -7 | c.-16 others(28): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18518381 | TTTTCTTA | T | intron_variant | MODIFIER | HG00544.hp2 HG02523.hp1 NA18941.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0004a0001c0001t0010a0001c0001t0027others(2): Show | a0001c0001t0004g0166a0001c0001t0004g0171a0001c0001t0004g0176others(7): Show | 10 | 192 | 0.0521 | -7 | c.99+ others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18518385 | CTTATTTT | C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0091 | 1 | 192 | 0.0052 | -7 | c.99+ others(22): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626714 | CTCTCTCT | C | intron_variant | MODIFIER | HG02523.hp1 HG04184.hp2 NA18941.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0030others(1): Show | a0001c0001t0004g0166a0001c0001t0004g0185a0001c0001t0004g0186others(3): Show | 6 | 192 | 0.0313 | -7 | c.249 others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18626716 | CTCTCTCT | C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0171 | 1 | 192 | 0.0052 | -7 | c.249 others(26): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | chrX | TogoVar | ||||||
CDKN1B_chr12_12712368_12727369 | 12726156 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02040.hp2 HG02071.hp1 others(23): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0002a0001c0001t0002g0002a0001c0001t0003g0003others(1): Show | 26 | 442 | 0.0588 | -7 | c.*51 others(18): Show |
CDKN1B | ENSG00000111276.12 | transcript | ENST00000228872.9 | protein_coding | 3788 | chr12 | TogoVar | ||||||
CDKN2AIPNL_chr5_134397065_134416881 | 134402636 | TGAAAACA | T | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02486.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043a0001c0001t0002g0131a0001c0001t0002g0132others(2): Show | 5 | 380 | 0.0132 | -7 | c.*27 others(16): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 3/3 | 272 | chr5 | TogoVar | |||||
CDKN2D_chr19_10561460_10573979 | 10570735 | AAGAAAAG | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02071.hp2 HG02129.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 9 | 410 | 0.0220 | -7 | c.-20 others(18): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 1757 | chr19 | TogoVar | ||||||
CDKN2D_chr19_10561460_10573979 | 10572461 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 7 | 410 | 0.0171 | -7 | c.-38 others(18): Show |
CDKN2D | ENSG00000129355.7 | transcript | ENST00000393599.3 | protein_coding | 3483 | chr19 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84606299 | TTGTGCAG | T | intron_variant | MODIFIER | HG02280.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328a0001c0001t0004g0329a0001c0001t0004g0330others(1): Show | 4 | 384 | 0.0104 | -7 | c.245 others(24): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS2_chr20_5122008_5202887 | 5189651 | GCCTGACA | G | intron_variant | MODIFIER | HG02622.hp2 HG02723.hp1 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0032a0001c0004t0016g0051a0001c0004t0016g0169 | 3 | 348 | 0.0086 | -7 | c.110 others(22): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
CDT1_chr16_88798789_88814258 | 88802510 | TCTCAGCC | T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02273.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0007 | a0001c0007t0007a0001c0007t0024 | a0001c0007t0007g0006a0001c0007t0024g0006 | 7 | 444 | 0.0158 | -7 | c.-13 others(18): Show |
CDT1 | ENSG00000167513.9 | transcript | ENST00000301019.9 | protein_coding | 1278 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80683573 | GTGCAGGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(113): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(52): Show | a0001c0001t0001g0064a0001c0001t0001g0165a0001c0001t0001g0178others(113): Show | 116 | 258 | 0.4496 | -7 | c.616 others(22): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80805803 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01934.hp2 HG02683.hp2 NA18945.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0010a0001c0001t0017others(3): Show | a0001c0001t0006g0150a0001c0001t0010g0129a0001c0001t0017g0128others(3): Show | 6 | 258 | 0.0233 | -7 | c.-16 others(18): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 1206 | chr16 | TogoVar | ||||||
CDYL_chr6_4771404_4960544 | 4852383 | TATCTTCC | T | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0112a0001c0001t0002g0131a0001c0001t0002g0228others(1): Show | 4 | 250 | 0.0160 | -7 | c.25- others(24): Show |
CDYL | ENSG00000153046.18 | transcript | ENST00000397588.8 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
CEACAM18_chr19_51473539_51496301 | 51486712 | TTCTTTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0019 | 3 | 420 | 0.0071 | -7 | c.108 others(26): Show |
CEACAM18 | ENSG00000213822.7 | transcript | ENST00000396477.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CEACAM19_chr19_44666482_44689355 | 44668687 | AATATATT | A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01928.hp2 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0101a0001c0001t0001g0106others(1): Show | 7 | 390 | 0.0180 | -7 | c.-32 others(18): Show |
CEACAM19 | ENSG00000186567.14 | transcript | ENST00000358777.10 | protein_coding | 2794 | chr19 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44533781 | AAATTAAT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(28): Show |
a0001a0005a0006others(3): Show | a0001c0001a0005c0005a0006c0010others(4): Show | a0001c0001t0001a0005c0005t0001a0005c0005t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0225a0001c0001t0001g0226others(26): Show | 31 | 438 | 0.0708 | -7 | c.-42 others(18): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 4107 | chr19 | TogoVar | ||||||
CEACAM4_chr19_41614015_41632074 | 41623419 | ATTTTTTT | A | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG01123.hp1 others(88): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(6): Show | a0001c0001t0001g0145a0001c0001t0002g0001a0001c0001t0002g0007others(34): Show | 91 | 437 | 0.2082 | -7 | c.425 others(24): Show |
CEACAM4 | ENSG00000105352.11 | transcript | ENST00000221954.7 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17482115 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(4): Show | a0001c0001t0002g0057a0001c0001t0003g0049a0001c0001t0015g0288others(4): Show | 7 | 324 | 0.0216 | -7 | c.221 others(24): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17525285 | CCAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01361.hp1 others(2): Show |
a0003 | a0003c0003a0003c0025 | a0003c0003t0007a0003c0003t0062a0003c0025t0007 | a0003c0003t0007g0183a0003c0003t0007g0209a0003c0003t0007g0212others(2): Show | 5 | 324 | 0.0154 | -7 | c.110 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17532700 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01168.hp2 others(12): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0003c0025others(1): Show | a0001c0001t0034a0001c0001t0057a0001c0001t0058others(6): Show | a0001c0001t0034g0011a0001c0001t0057g0245a0001c0001t0058g0292others(12): Show | 15 | 324 | 0.0463 | -7 | c.110 others(26): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17540234 | CAATATAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00673.hp2 others(41): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0042a0001c0001t0001g0053a0001c0001t0001g0063others(41): Show | 44 | 324 | 0.1358 | -7 | c.149 others(24): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 13/18 | chr22 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15455888 | GTCTCTGC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(279): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(180): Show | 282 | 430 | 0.6558 | -7 | c.-86 others(16): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 843 | chr1 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15455898 | TCTGCTCC | T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01257.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0110a0001c0002t0001g0233a0001c0002t0001g0234others(11): Show | 14 | 430 | 0.0326 | -7 | c.-85 others(16): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 833 | chr1 | TogoVar | ||||||
CELA3A_chr1_21996657_22017542 | 22014082 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01070.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0004a0002c0017others(3): Show | a0001c0003t0001a0002c0004t0001a0002c0017t0001others(3): Show | a0001c0003t0001g0130a0002c0004t0001g0006a0002c0004t0001g0010others(24): Show | 58 | 419 | 0.1384 | -7 | c.*16 others(18): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 1541 | chr1 | TogoVar | ||||||
CELA3B_chr1_21972022_21994354 | 21979446 | TTCTTTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02896.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0108a0001c0001t0001g0111a0001c0001t0001g0113others(3): Show | 6 | 444 | 0.0135 | -7 | c.129 others(23): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELF1_chr11_47460937_47558132 | 47541686 | CAAAGAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02559.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001a0001c0001t0004g0003a0001c0001t0004g0005others(1): Show | 5 | 340 | 0.0147 | -7 | c.-15 others(28): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11032146 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(28): Show | a0001c0001t0001g0109a0001c0001t0001g0115a0001c0001t0001g0121others(47): Show | 50 | 194 | 0.2577 | -7 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11086578 | TAAAAAAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01255.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0046others(5): Show | a0001c0001t0003g0171a0001c0001t0013g0083a0001c0001t0046g0069others(5): Show | 8 | 194 | 0.0412 | -7 | c.74+ others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11093252 | AGTTTGGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0031a0001c0001t0001g0085a0001c0001t0001g0108others(80): Show | 83 | 194 | 0.4278 | -7 | c.75- others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11099881 | CAACAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0104a0001c0001t0003g0038a0001c0001t0003g0071others(30): Show | 33 | 194 | 0.1701 | -7 | c.75- others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CELF2_chr10_11012872_11341675 | 11100558 | ACTTTCAG | A | intron_variant | MODIFIER | HG00735.hp1 HG02622.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0040 | a0001c0002t0001g0033a0001c0004t0040g0141 | 2 | 194 | 0.0103 | -7 | c.75- others(24): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01261.hp2 HG02523.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0071a0001c0001t0004g0076a0001c0001t0004g0109others(6): Show | 9 | 262 | 0.0344 | -7 | c.*46 others(18): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848953 | ATTTTTTT | A | intron_variant | MODIFIER | HG02280.hp1 HG03017.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0028a0001c0001t0001g0051a0001c0001t0002g0180others(2): Show | 5 | 254 | 0.0197 | -7 | c.-17 others(28): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80917287 | GGGCAGGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(152): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(152): Show | 155 | 254 | 0.6102 | -7 | c.179 others(26): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CENATAC_chr11_118993138_119020793 | 119017671 | CAAAAACA | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01952.hp2 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(3): Show | 6 | 318 | 0.0189 | -7 | c.*20 others(18): Show |
CENATAC | ENSG00000186166.9 | transcript | ENST00000334418.6 | protein_coding | 1879 | chr11 | TogoVar | ||||||
CENPC_chr4_67463762_67550503 | 67524367 | GGAAGAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(227): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0012a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0079others(222): Show | 230 | 338 | 0.6805 | -7 | c.332 others(24): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 5/18 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103102343 | ATATTTTT | A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(50): Show |
a0003a0008 | a0003c0003a0003c0029a0008c0009 | a0003c0003t0001a0003c0029t0001a0008c0009t0001 | a0003c0003t0001g0002a0003c0003t0001g0066a0003c0003t0001g0100others(48): Show | 53 | 320 | 0.1656 | -7 | c.*38 others(18): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 3467 | chr4 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69213181 | TGTCTCAA | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033a0001c0001t0003g0304a0001c0001t0003g0311others(1): Show | 5 | 388 | 0.0129 | -7 | c.*33 others(18): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 2825 | chr5 | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101143356 | GAGTAGAT | G | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 282 | 0.0036 | -7 | c.156 others(26): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 16/21 | chrX | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65518361 | AAGATGGC | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(66): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0007a0003c0004t0002 | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(62): Show | 69 | 374 | 0.1845 | -7 | c.*10 others(16): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 11/11 | 107 | chr5 | TogoVar | |||||
CENPK_chr5_65512766_65568168 | 65532910 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01952.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0262a0001c0001t0002g0093a0001c0001t0004g0025others(35): Show | 39 | 374 | 0.1043 | -7 | c.289 others(24): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 6/10 | chr5 | TogoVar |