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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIAO2A_chr15_64067565_64098838 | 64075153 | CTTCAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00621.hp1 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(65): Show |
128 | 338 | 0.3787 | -6 | c.385 others(21): Show |
CIAO2A | ENSG00000166797.11 | transcript | ENST00000300030.8 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
CIAPIN1_chr16_57423187_57452385 | 57424219 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG01891.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0027 others(14): Show |
31 | 390 | 0.0795 | -6 | c.*49 others(17): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 3967 | chr16 | TogoVar | |||||||
CIB3_chr19_16156368_16178525 | 16173041 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00741.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0001g0085 a0001c0001t0001g0086 others(3): Show |
14 | 378 | 0.0370 | -6 | c.86+ others(19): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589054 | TTCTTCC | T | intron_variant | MODIFIER | HG02155.hp2 HG02738.hp2 HG02895.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0159 a0001c0001t0001g0228 others(9): Show |
12 | 344 | 0.0349 | -6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589108 | CTCTTCT | C | intron_variant | MODIFIER | HG01123.hp2 HG02738.hp2 HG02895.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0157 others(5): Show |
8 | 344 | 0.0233 | -6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589141 | TCCTTCC | T | intron_variant | MODIFIER | HG01069.hp1 HG01175.hp1 HG02451.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0219 a0001c0001t0001g0222 others(12): Show |
15 | 344 | 0.0436 | -6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26589174 | TTCTTCC | T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02257.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0004t0001a0002c0002t0002 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(7): Show |
10 | 344 | 0.0291 | -6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26595895 | GCGCACA | G | intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01496.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0003t0002 | a0001c0001t0001g0007 a0001c0001t0006g0209 a0002c0003t0002g0038 others(2): Show |
6 | 344 | 0.0174 | -6 | c.187 others(21): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIB4_chr2_26576205_26646366 | 26621252 | GAAAAAA | G | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0321 a0001c0001t0001g0322 a0002c0002t0001g0316 others(3): Show |
6 | 344 | 0.0174 | -6 | c.186 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
CIDEA_chr18_12249361_12282595 | 12270688 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(54): Show |
65 | 448 | 0.1451 | -6 | c.331 others(23): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270872 | CTTTTCT | C | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 others(1): Show |
4 | 448 | 0.0089 | -6 | c.331 others(23): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12272171 | GGTTGTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0031 others(36): Show |
44 | 448 | 0.0982 | -6 | c.331 others(23): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9874518 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG00738.hp2 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 others(10): Show |
29 | 410 | 0.0707 | -6 | c.207 others(23): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
CIDEC_chr3_9861714_9885253 | 9883168 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG03490.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0002a0002c0008t0001 | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0033 others(4): Show |
9 | 410 | 0.0220 | -6 | c.-30 others(17): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 2916 | chr3 | TogoVar | |||||||
CILK1_chr6_52996303_53066824 | 52997120 | AACACAC | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01261.hp1 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 others(16): Show |
19 | 244 | 0.0779 | -6 | c.*80 others(17): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 4182 | chr6 | TogoVar | |||||||
CILK1_chr6_52996303_53066824 | 52998688 | GTGTTGT | G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp1 others(48): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(8): Show | a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0025 others(28): Show |
51 | 244 | 0.2090 | -6 | c.*64 others(17): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 2614 | chr6 | TogoVar | |||||||
CILK1_chr6_52996303_53066824 | 53000767 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00642.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0016 a0001c0002t0001g0001 a0001c0002t0001g0007 others(29): Show |
50 | 244 | 0.2049 | -6 | c.*43 others(17): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 535 | chr6 | TogoVar | |||||||
CINP_chr14_102343282_102367890 | 102359227 | AATATAT | A | intron_variant | MODIFIER | HG01081.hp1 HG02717.hp2 HG03834.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0020 a0001c0001t0001g0170 a0001c0001t0001g0171 others(4): Show |
14 | 420 | 0.0333 | -6 | c.176 others(21): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575156 | ATGAAAT | A | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp2 HG02683.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 |
3 | 372 | 0.0081 | -6 | c.894 others(23): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575664 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02723.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0289 a0005c0006t0007g0290 a0005c0006t0007g0291 others(2): Show |
5 | 372 | 0.0134 | -6 | c.894 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575698 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02723.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0289 a0005c0006t0007g0290 a0005c0006t0007g0291 others(2): Show |
5 | 372 | 0.0134 | -6 | c.894 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575732 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02723.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0289 a0005c0006t0007g0290 a0005c0006t0007g0291 others(2): Show |
5 | 372 | 0.0134 | -6 | c.894 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575766 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02809.hp1 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0290 a0005c0006t0007g0291 a0005c0006t0007g0292 others(1): Show |
4 | 372 | 0.0108 | -6 | c.894 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIP2A_chr3_108544864_108594438 | 108575800 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp2 HG02109.hp1 HG02809.hp1 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0290 a0005c0006t0007g0291 a0005c0006t0007g0292 others(1): Show |
4 | 372 | 0.0108 | -6 | c.894 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
CIPC_chr14_77093258_77122287 | 77107627 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0013others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(36): Show |
118 | 426 | 0.2770 | -6 | c.136 others(23): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77107654 | ACACACT | A | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG01891.hp1 others(13): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0007a0003c0004t0011a0003c0004t0035 | a0002c0003t0007g0013 a0002c0003t0007g0068 a0002c0003t0007g0070 others(3): Show |
16 | 426 | 0.0376 | -6 | c.136 others(23): Show |
CIPC | ENSG00000198894.8 | transcript | ENST00000361786.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CIR1_chr2_174343022_174400712 | 174356620 | AGAAGGG | A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0220 |
3 | 348 | 0.0086 | -6 | c.485 others(23): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 7/9 | chr2 | TogoVar | |||||||
CIR1_chr2_174343022_174400712 | 174383849 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(113): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0004a0006c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(106): Show |
116 | 348 | 0.3333 | -6 | c.168 others(23): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
CISD3_chr17_38725341_38740605 | 38732963 | ACACACT | A | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG00735.hp1 others(59): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0017a0002c0002t0001others(4): Show | a0001c0001t0003g0035 a0001c0001t0003g0056 a0001c0001t0017g0059 others(10): Show |
62 | 411 | 0.1509 | -6 | c.205 others(21): Show |
CISD3 | ENSG00000277972.2 | transcript | ENST00000613478.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CISH_chr3_50601489_50616774 | 50602054 | GCACACA | G | downstream_gene_variant | MODIFIER | HG01993.hp1 HG02572.hp2 HG02723.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0010g0023 others(3): Show |
11 | 360 | 0.0306 | -6 | c.*55 others(17): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 4434 | chr3 | TogoVar | |||||||
CITED1_chrX_72296646_72310914 | 72310407 | GACACAC | G | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 302 | 0.0066 | -6 | c.-46 others(17): Show |
CITED1 | ENSG00000125931.11 | transcript | ENST00000651998.1 | protein_coding | 4494 | chrX | TogoVar | |||||||
CITED2_chr6_139366807_139379648 | 139373346 | TTGCCGC | T | disruptive_inframe_deletion | MODERATE | HG02451.hp1 HG02895.hp2 HG02896.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0010 | 3 | 322 | 0.0093 | -6 | c.593 others(13): Show |
p.Ser others(13): Show |
CITED2 | ENSG00000164442.11 | transcript | ENST00000367651.4 | protein_coding | 2/2 | 842/2382 | 593/813 | 198/270 | chr6 | TogoVar | |||
CITED4_chr1_40856054_40867363 | 40856638 | ATGGTGG | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0000 a0001c0008t0001g0000 |
15 | 440 | 0.0341 | -6 | c.*49 others(17): Show |
CITED4 | ENSG00000179862.7 | transcript | ENST00000372638.4 | protein_coding | 4415 | chr1 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119709785 | AGAGTGT | A | intron_variant | MODIFIER | HG03579.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0034 a0001c0001t0005g0020 |
2 | 236 | 0.0085 | -6 | c.507 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119709787 | AGTGTGT | A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00735.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0017 others(40): Show |
43 | 236 | 0.1822 | -6 | c.507 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 39/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119726011 | CGTGTGT | C | intron_variant | MODIFIER | NA18966.hp2 NA18969.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0160 a0001c0001t0004g0168 a0001c0001t0023g0214 |
3 | 236 | 0.0127 | -6 | c.359 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 28/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119731813 | AATATAT | A | intron_variant | MODIFIER | HG02818.hp1 HG03017.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0001c0028a0002c0016 | a0001c0001t0001a0001c0028t0003a0002c0016t0001 | a0001c0001t0001g0179 a0001c0028t0003g0229 a0002c0016t0001g0061 |
3 | 236 | 0.0127 | -6 | c.335 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 26/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119737306 | CAAAAAA | C | intron_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0004t0011 | a0001c0001t0001g0158 a0001c0001t0001g0224 a0001c0001t0002g0141 others(4): Show |
7 | 236 | 0.0297 | -6 | c.295 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 24/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119774558 | ATGTGTG | A | intron_variant | MODIFIER | HG02559.hp1 NA18906.hp2 NA19079.hp2 others(1): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0003 | a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0017t0003g0012 others(1): Show |
4 | 236 | 0.0170 | -6 | c.194 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 16/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119815105 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(139): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(139): Show |
142 | 236 | 0.6017 | -6 | c.111 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 9/47 | chr12 | TogoVar | |||||||
CIT_chr12_119680791_119882320 | 119824108 | GTATATA | G | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0172 a0001c0001t0004g0160 others(24): Show |
27 | 236 | 0.1144 | -6 | c.957 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 8/47 | chr12 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112736446 | GATTAAC | G | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02109.hp1 others(10): Show |
a0001a0003 | a0001c0004a0001c0013a0003c0011 | a0001c0004t0006a0001c0004t0016a0001c0013t0012others(1): Show | a0001c0004t0006g0007 a0001c0004t0006g0133 a0001c0004t0006g0134 others(4): Show |
13 | 300 | 0.0433 | -6 | c.*23 others(17): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 9/9 | 2371 | chr2 | TogoVar | ||||||
CKAP2L_chr2_112731349_112769609 | 112747366 | TAGAGTA | T | intron_variant | MODIFIER | HG00735.hp2 HG01257.hp2 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0023g0075 |
3 | 300 | 0.0100 | -6 | c.160 others(23): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
CKAP2L_chr2_112731349_112769609 | 112753521 | CTTTTCT | C | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02965.hp2 others(4): Show |
a0005a0009 | a0005c0006a0009c0012 | a0005c0006t0005a0009c0012t0005 | a0005c0006t0005g0029 a0005c0006t0005g0030 a0005c0006t0005g0111 others(2): Show |
7 | 300 | 0.0233 | -6 | c.139 others(25): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
CKAP2_chr13_52450478_52481627 | 52455635 | CGCGGTG | C | intron_variant | MODIFIER | HG02738.hp1 HG02886.hp1 HG06807.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0005a0003c0005t0001 | a0001c0001t0002g0153 a0001c0001t0005g0035 a0001c0001t0005g0154 others(2): Show |
6 | 406 | 0.0148 | -6 | c.70+ others(17): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46792565 | AAACAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02622.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show |
4 | 294 | 0.0136 | -6 | c.165 others(25): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 13/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46829834 | TTGTATG | T | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0132 |
3 | 294 | 0.0102 | -6 | c.-37 others(23): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 1/43 | chr11 | TogoVar | |||||||
CKAP5_chr11_46738048_46851280 | 46829838 | ATGTGTG | A | intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0178 a0001c0001t0001g0230 a0001c0001t0001g0239 others(8): Show |
11 | 294 | 0.0374 | -6 | c.-37 others(23): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 1/43 | chr11 | TogoVar | |||||||
CKLF_chr16_66547576_66571068 | 66560798 | TACACAC | T | intron_variant | MODIFIER | HG00609.hp1 HG02922.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0071 others(2): Show |
6 | 392 | 0.0153 | -6 | c.238 others(23): Show |
CKLF | ENSG00000217555.13 | transcript | ENST00000264001.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CKMT1A_chr15_43688859_43704222 | 43701946 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02723.hp2 HG02809.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0002c0002t0001g0003 |
8 | 392 | 0.0204 | -6 | c.*28 others(17): Show |
CKMT1A | ENSG00000223572.10 | transcript | ENST00000413453.7 | protein_coding | 2725 | chr15 | TogoVar |