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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDKL4_chr2_39170646_39248970 | 39185177 | CATATGTG others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 290 | 0.0035 | -12 | c.736 others(27): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
CDKL4_chr2_39170646_39248970 | 39217701 | ATTATTTA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(130): Show |
a0001a0003a0005 | a0001c0001a0001c0008a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(129): Show | 133 | 290 | 0.4586 | -12 | c.291 others(29): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
CDKL5_chrX_18420608_18645196 | 18481320 | GTTTCTTT others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG01928.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(7): Show | a0001c0001t0003g0125a0001c0001t0005g0053a0001c0001t0005g0098others(11): Show | 14 | 192 | 0.0729 | -12 | c.-16 others(33): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18507446 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0124 | 1 | 192 | 0.0052 | -12 | c.64+ others(25): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18507552 | TTTCATTC others(5): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0012 | 1 | 192 | 0.0052 | -12 | c.64+ others(25): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18509197 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0155 | 1 | 192 | 0.0052 | -12 | c.65- others(27): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18551559 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0027 | 1 | 192 | 0.0052 | -12 | c.100 others(31): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18553453 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | NA18988.hp1 NA19066.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0186a0001c0001t0010g0170a0001c0001t0010g0172 | 3 | 192 | 0.0156 | -12 | c.100 others(31): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18553465 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(23): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0004a0001c0001t0010a0001c0001t0011others(10): Show | a0001c0001t0004g0165a0001c0001t0004g0166a0001c0001t0004g0171others(23): Show | 26 | 192 | 0.1354 | -12 | c.100 others(31): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626661 | CCTCTCTC others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01934.hp1 HG01978.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0005g0068others(6): Show | 9 | 192 | 0.0469 | -12 | c.249 others(31): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKL5_chrX_18420608_18645196 | 18626713 | TCTCTCTC others(5): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0003 | 1 | 192 | 0.0052 | -12 | c.249 others(31): Show |
CDKL5 | ENSG00000008086.13 | transcript | ENST00000623535.2 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CDKN1A_chr6_36673714_36692332 | 36681268 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0370 | 3 | 454 | 0.0066 | -12 | c.-6+ others(27): Show |
CDKN1A | ENSG00000124762.14 | transcript | ENST00000244741.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CDKN1C_chr11_2878218_2890775 | 2884860 | GGGGGCCG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG01081.hp2 HG01358.hp1 HG02148.hp2 others(1): Show |
a0004a0005 | a0004c0012a0005c0007 | a0004c0012t0001a0005c0007t0001 | a0004c0012t0001g0027a0005c0007t0001g0013 | 4 | 417 | 0.0096 | -12 | c.585 others(19): Show |
p.Ala others(13): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 2/4 | 748/1773 | 585/918 | 195/305 | chr11 | TogoVar | ||
CDKN1C_chr11_2878218_2890775 | 2884878 | CGGGGCCG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG02056.hp2 NA19000.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0017 | 2 | 417 | 0.0048 | -12 | c.567 others(19): Show |
p.Ala others(13): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 2/4 | 730/1773 | 567/918 | 189/305 | chr11 | TogoVar | ||
CDKN1C_chr11_2878218_2890775 | 2884966 | ACCGCGAC others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(51): Show |
a0002a0005a0011others(2): Show | a0002c0003a0002c0009a0005c0007others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(5): Show | a0002c0003t0001g0004a0002c0003t0001g0005a0002c0003t0001g0023others(11): Show | 54 | 417 | 0.1295 | -12 | c.479 others(19): Show |
p.Ala others(13): Show |
CDKN1C | ENSG00000129757.15 | transcript | ENST00000440480.8 | protein_coding | 2/4 | 642/1773 | 479/918 | 160/305 | chr11 | TogoVar | ||
CDKN2AIPNL_chr5_134397065_134416881 | 134406807 | CTGCGGGT others(5): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 380 | 0.0026 | -12 | c.339 others(29): Show |
CDKN2AIPNL | ENSG00000237190.4 | transcript | ENST00000458198.3 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21980994 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 404 | 0.0025 | -12 | c.194 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21981158 | GTGTATAT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 404 | 0.0025 | -12 | c.194 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21987432 | CAGAGAGA others(5): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 404 | 0.0025 | -12 | c.193 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21990611 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01358.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0118others(5): Show | 11 | 404 | 0.0272 | -12 | c.193 others(29): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN2A_chr9_21962752_21999392 | 21993799 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0350a0001c0001t0001g0351a0001c0001t0001g0352others(4): Show | 7 | 404 | 0.0173 | -12 | c.193 others(27): Show |
CDKN2A | ENSG00000147889.18 | transcript | ENST00000579755.2 | protein_coding | 1/2 | chr9 | TogoVar | ||||||
CDKN3_chr14_54392007_54425218 | 54402309 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG02135.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0060a0001c0001t0001g0062 | 4 | 420 | 0.0095 | -12 | c.148 others(27): Show |
CDKN3 | ENSG00000100526.21 | transcript | ENST00000335183.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CDNF_chr10_14814245_14843037 | 14826017 | AAGAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG03688.hp2 HG03942.hp1 NA18947.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0001g0161a0001c0001t0002g0264others(1): Show | 5 | 418 | 0.0120 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826029 | GAGAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01069.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0018a0001c0001t0001g0159others(4): Show | 10 | 418 | 0.0239 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826086 | AAGAAGAA others(5): Show |
A | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 418 | 0.0024 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826089 | AAGAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG01952.hp2 HG02257.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0112a0001c0001t0002g0273a0001c0001t0002g0289 | 3 | 418 | 0.0072 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826092 | AAGAAGCA others(5): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0083 | 2 | 418 | 0.0048 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826095 | AAGCAGCA others(5): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01515.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0085a0001c0001t0002g0025a0001c0001t0002g0236others(2): Show | 6 | 418 | 0.0144 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826122 | CAGAAGCA others(5): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 418 | 0.0024 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDNF_chr10_14814245_14843037 | 14826164 | AAGCAGAA others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 418 | 0.0024 | -12 | c.244 others(27): Show |
CDNF | ENSG00000185267.10 | transcript | ENST00000465530.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
CDO1_chr5_115799733_115821659 | 115807881 | ACTGAGGA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0099a0001c0001t0002g0106a0001c0001t0002g0107others(2): Show | 5 | 372 | 0.0134 | -12 | c.404 others(29): Show |
CDO1 | ENSG00000129596.5 | transcript | ENST00000250535.5 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125971382 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0221 | 1 | 334 | 0.0030 | -12 | c.335 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125974358 | TAGGTAGG others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp1 HG02698.hp1 others(9): Show |
a0001a0002a0005others(4): Show | a0001c0009a0002c0012a0005c0045others(5): Show | a0001c0009t0039a0001c0009t0075a0002c0012t0040others(9): Show | a0001c0009t0039g0137a0001c0009t0075g0278a0002c0012t0040g0214others(9): Show | 12 | 334 | 0.0359 | -12 | c.335 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125974390 | AAGGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02572.hp1 others(11): Show |
a0001a0002a0005others(4): Show | a0001c0009a0002c0012a0002c0031others(6): Show | a0001c0009t0039a0001c0009t0075a0002c0012t0040others(11): Show | a0001c0009t0039g0137a0001c0009t0075g0278a0002c0012t0040g0214others(11): Show | 14 | 334 | 0.0419 | -12 | c.335 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 18/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125981970 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02630.hp2 others(3): Show |
a0002a0005 | a0002c0003a0005c0010 | a0002c0003t0001a0005c0010t0016a0005c0010t0102 | a0002c0003t0001g0007a0005c0010t0016g0008a0005c0010t0016g0015others(3): Show | 6 | 334 | 0.0180 | -12 | c.299 others(29): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 16/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 125996161 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01123.hp2 others(19): Show |
a0001a0002a0005others(6): Show | a0001c0009a0001c0033a0002c0012others(9): Show | a0001c0009t0039a0001c0009t0075a0001c0033t0004others(18): Show | a0001c0009t0039g0137a0001c0009t0075g0278a0001c0033t0004g0088others(19): Show | 22 | 334 | 0.0659 | -12 | c.236 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 12/19 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126040814 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp2 others(24): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0067others(9): Show | a0001c0001t0001a0001c0001t0010a0001c0004t0063others(17): Show | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0202others(24): Show | 27 | 334 | 0.0808 | -12 | c.-61 others(31): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
CDR2L_chr17_74982632_75010800 | 74997032 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02148.hp1 NA19030.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004a0001c0003t0005 | a0001c0002t0002g0123a0001c0003t0004g0110a0001c0003t0005g0065 | 3 | 352 | 0.0085 | -12 | c.80- others(27): Show |
CDR2L | ENSG00000109089.7 | transcript | ENST00000337231.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDR2_chr16_22340936_22379619 | 22360739 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG02738.hp1 HG03491.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0059a0001c0001t0001g0060others(6): Show | 10 | 310 | 0.0323 | -12 | c.192 others(29): Show |
CDR2 | ENSG00000140743.8 | transcript | ENST00000268383.7 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
CDR2_chr16_22340936_22379619 | 22375082 | CTTGACTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0135 | 5 | 310 | 0.0161 | -12 | c.-78 others(21): Show |
CDR2 | ENSG00000140743.8 | transcript | ENST00000268383.7 | protein_coding | 464 | chr16 | TogoVar | ||||||
CDRT4_chr17_15431015_15472621 | 15462427 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0047a0001c0001t0006g0048a0001c0001t0006g0049 | 3 | 430 | 0.0070 | -12 | c.-13 others(31): Show |
CDRT4 | ENSG00000239704.12 | transcript | ENST00000619038.5 | protein_coding | 1/3 | chr17 | TogoVar | ||||||
CDS1_chr4_84578127_84656334 | 84599401 | CACACATA others(5): Show |
C | intron_variant | MODIFIER | NA18944.hp1 NA18965.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325a0001c0001t0002g0326 | 2 | 384 | 0.0052 | -12 | c.118 others(29): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS1_chr4_84578127_84656334 | 84619044 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0002c0002t0006 | a0001c0001t0014g0231a0001c0001t0014g0232a0002c0002t0006g0372 | 3 | 384 | 0.0078 | -12 | c.441 others(27): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS1_chr4_84578127_84656334 | 84635574 | TCTGCCTG others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG03098.hp1 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0030a0001c0001t0003g0217a0001c0001t0007g0010others(2): Show | 5 | 384 | 0.0130 | -12 | c.810 others(27): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS1_chr4_84578127_84656334 | 84635625 | GCCTTCCT others(5): Show |
G | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 384 | 0.0026 | -12 | c.810 others(27): Show |
CDS1 | ENSG00000163624.6 | transcript | ENST00000295887.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CDS2_chr20_5122008_5202887 | 5151750 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG03486.hp1 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0059a0001c0001t0072 | a0001c0001t0013g0303a0001c0001t0059g0292a0001c0001t0072g0075 | 3 | 348 | 0.0086 | -12 | c.58- others(29): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDS2_chr20_5122008_5202887 | 5202783 | CACACACA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 348 | 0.0029 | -12 | c.*12 others(25): Show |
CDS2 | ENSG00000101290.14 | transcript | ENST00000460006.6 | protein_coding | 4897 | chr20 | TogoVar | ||||||
CDV3_chr3_133568686_133595261 | 133575576 | TAAGCACC others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02572.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0096a0001c0001t0004g0094a0001c0001t0004g0095others(1): Show | 4 | 386 | 0.0104 | -12 | c.317 others(27): Show |
CDV3 | ENSG00000091527.17 | transcript | ENST00000264993.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CDX2_chr13_27955918_27974315 | 27964708 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0086 | 1 | 418 | 0.0024 | -12 | c.687 others(27): Show |
CDX2 | ENSG00000165556.10 | transcript | ENST00000381020.8 | protein_coding | 2/2 | chr13 | TogoVar | ||||||
CDYL2_chr16_80592907_80809598 | 80593634 | TTATATAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG00741.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(20): Show | a0001c0001t0003g0040a0001c0001t0003g0073a0001c0001t0003g0080others(43): Show | 47 | 258 | 0.1822 | -12 | c.*10 others(25): Show |
CDYL2 | ENSG00000166446.15 | transcript | ENST00000570137.7 | protein_coding | 4272 | chr16 | TogoVar |