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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CIAPIN1_chr16_57423187_57452385 | 57424554 | T | TCACACA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0058a0001c0001t0001g0059others(30): Show | 51 | 390 | 0.1308 | 6 | c.*46 others(17): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 3632 | chr16 | TogoVar | ||||||
CIAPIN1_chr16_57423187_57452385 | 57437512 | T | TTTATTA | intron_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG01891.hp1 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0175others(12): Show | 30 | 390 | 0.0769 | 6 | c.311 others(21): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 3/8 | chr16 | TogoVar | ||||||
CIART_chr1_150277554_150292093 | 150284002 | C | CTTTATT | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01070.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0003a0001c0001t0003g0043a0001c0001t0003g0044others(1): Show | 41 | 416 | 0.0986 | 6 | c.442 others(21): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIART_chr1_150277554_150292093 | 150284003 | T | TTTATTA | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036a0001c0001t0002g0018a0001c0001t0002g0037 | 5 | 416 | 0.0120 | 6 | c.442 others(21): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIART_chr1_150277554_150292093 | 150284873 | T | TTTGTTG | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01192.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0045 | 13 | 416 | 0.0313 | 6 | c.633 others(21): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CIART_chr1_150277554_150292093 | 150289968 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG01070.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0003a0001c0001t0003g0039a0001c0001t0003g0043others(2): Show | 38 | 416 | 0.0914 | 6 | c.*30 others(17): Show |
CIART | ENSG00000159208.16 | transcript | ENST00000290363.6 | protein_coding | 2876 | chr1 | TogoVar | ||||||
CIB3_chr19_16156368_16178525 | 16173041 | T | TACACAC | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00735.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0049a0001c0001t0001g0051others(20): Show | 32 | 378 | 0.0847 | 6 | c.86+ others(19): Show |
CIB3 | ENSG00000141977.9 | transcript | ENST00000269878.8 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26587304 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0001g0014others(59): Show | 62 | 344 | 0.1802 | 6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589090 | T | TTCTTCC | intron_variant | MODIFIER | NA18961.hp2 NA19065.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178a0001c0001t0001g0203a0001c0001t0001g0312 | 3 | 344 | 0.0087 | 6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26589096 | T | TTCTTCC | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG02602.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0002g0027others(2): Show | 5 | 344 | 0.0145 | 6 | c.329 others(23): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
CIB4_chr2_26576205_26646366 | 26617120 | A | ATGTGTG | intron_variant | MODIFIER | HG03516.hp1 HG03688.hp2 NA18954.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022others(4): Show | 7 | 344 | 0.0204 | 6 | c.186 others(25): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
CIBAR1_chr8_93695550_93736527 | 93695813 | G | GAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(50): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0019others(27): Show | 53 | 374 | 0.1417 | 6 | c.-48 others(17): Show |
CIBAR1 | ENSG00000188343.14 | transcript | ENST00000518322.6 | protein_coding | 4736 | chr8 | TogoVar | ||||||
CIBAR2_chr16_85093358_85117472 | 85110704 | C | CTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00733.hp2 others(14): Show |
a0001a0007 | a0001c0002a0007c0010 | a0001c0002t0002a0001c0002t0003a0001c0002t0008others(2): Show | a0001c0002t0002g0026a0001c0002t0002g0183a0001c0002t0002g0186others(8): Show | 17 | 436 | 0.0390 | 6 | c.21- others(19): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIBAR2_chr16_85093358_85117472 | 85110720 | T | TTTTTTC | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0061a0001c0001t0001g0062others(11): Show | 17 | 436 | 0.0390 | 6 | c.21- others(19): Show |
CIBAR2 | ENSG00000153789.14 | transcript | ENST00000539556.6 | protein_coding | 1/8 | chr16 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12268229 | C | CTTTTTT | intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0224a0001c0001t0001g0225others(3): Show | 6 | 448 | 0.0134 | 6 | c.330 others(23): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | chr18 | TogoVar | ||||||
CIDEA_chr18_12249361_12282595 | 12270688 | C | CAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0001 | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0150others(10): Show | 13 | 448 | 0.0290 | 6 | c.331 others(23): Show |
CIDEA | ENSG00000176194.18 | transcript | ENST00000320477.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CIDEB_chr14_24300187_24312977 | 24300643 | A | AGAGGAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(86): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0003a0004c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0003g0010others(1): Show | 89 | 414 | 0.2150 | 6 | c.*49 others(17): Show |
CIDEB | ENSG00000136305.12 | transcript | ENST00000554411.6 | protein_coding | 4543 | chr14 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9872181 | C | CTTTTTT | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG02895.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0001a0001c0003t0001a0002c0004t0001 | a0001c0002t0001g0009a0001c0003t0001g0144a0002c0004t0001g0123others(2): Show | 10 | 410 | 0.0244 | 6 | c.208 others(23): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9874518 | A | AAATAAT | intron_variant | MODIFIER | HG01167.hp1 HG01192.hp2 HG01358.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0010a0001c0003t0001others(2): Show | a0001c0002t0002g0175a0001c0002t0002g0195a0001c0002t0010g0176others(7): Show | 10 | 410 | 0.0244 | 6 | c.207 others(23): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 4/6 | chr3 | TogoVar | ||||||
CIDEC_chr3_9861714_9885253 | 9879161 | A | ATTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01168.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(2): Show | a0001c0001t0001g0039a0001c0001t0001g0116a0001c0001t0001g0117others(9): Show | 13 | 410 | 0.0317 | 6 | c.-13 others(23): Show |
CIDEC | ENSG00000187288.12 | transcript | ENST00000336832.7 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
CIITA_chr16_10872202_10941394 | 10893804 | T | TAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0017others(23): Show | a0001c0001t0001g0240a0001c0001t0001g0247a0001c0001t0007g0246others(26): Show | 29 | 392 | 0.0740 | 6 | c.53- others(21): Show |
CIITA | ENSG00000179583.21 | transcript | ENST00000324288.14 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CILK1_chr6_52996303_53066824 | 52997120 | A | AACACAC | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02257.hp2 HG02615.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0041a0001c0002t0001g0007a0001c0002t0003g0141others(2): Show | 6 | 244 | 0.0246 | 6 | c.*80 others(17): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 4182 | chr6 | TogoVar | ||||||
CILK1_chr6_52996303_53066824 | 52998688 | G | GTGTTGT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG00738.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0015a0001c0001t0001g0052others(4): Show | 9 | 244 | 0.0369 | 6 | c.*64 others(17): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 2614 | chr6 | TogoVar | ||||||
CILK1_chr6_52996303_53066824 | 53028820 | A | AGTGTGT | intron_variant | MODIFIER | HG00741.hp2 HG01169.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016a0001c0002t0020others(1): Show | a0001c0002t0003g0023a0001c0002t0003g0142a0001c0002t0016g0129others(2): Show | 6 | 244 | 0.0246 | 6 | c.358 others(23): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 5/13 | chr6 | TogoVar | ||||||
CILK1_chr6_52996303_53066824 | 53037391 | A | ATGTGCC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(146): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(109): Show | 149 | 244 | 0.6107 | 6 | c.156 others(21): Show |
CILK1 | ENSG00000112144.16 | transcript | ENST00000676107.1 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
CILP_chr15_65189760_65216473 | 65191680 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01256.hp2 HG01258.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0022a0001c0001t0011g0142others(3): Show | 9 | 332 | 0.0271 | 6 | c.*50 others(17): Show |
CILP | ENSG00000138615.6 | transcript | ENST00000261883.6 | protein_coding | 3079 | chr15 | TogoVar | ||||||
CINP_chr14_102343282_102367890 | 102359227 | A | AATATAT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG00673.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0135a0001c0001t0002g0141others(11): Show | 25 | 420 | 0.0595 | 6 | c.176 others(21): Show |
CINP | ENSG00000100865.15 | transcript | ENST00000216756.11 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108553894 | T | TACAAAA | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG01884.hp2 others(10): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0005others(1): Show | a0001c0001t0010a0001c0003t0003a0003c0005t0002others(1): Show | a0001c0001t0010g0148a0001c0003t0003g0294a0001c0003t0003g0296others(10): Show | 13 | 372 | 0.0350 | 6 | c.232 others(23): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 18/20 | chr3 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108580436 | A | AACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG01167.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0002others(4): Show | a0001c0001t0001g0139a0001c0001t0002g0007a0001c0001t0002g0167others(30): Show | 34 | 372 | 0.0914 | 6 | c.550 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 5/20 | chr3 | TogoVar | ||||||
CIP2A_chr3_108544864_108594438 | 108585905 | T | TACACAC | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02572.hp1 |
a0006a0009 | a0006c0007a0009c0014 | a0006c0007t0003a0009c0014t0003 | a0006c0007t0003g0360a0009c0014t0003g0358a0009c0014t0003g0359 | 3 | 372 | 0.0081 | 6 | c.103 others(21): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
CIPC_chr14_77093258_77122287 | 77107654 | A | ACTCTCT | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01256.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027a0001c0001t0029 | a0001c0001t0006g0009a0001c0001t0006g0028a0001c0001t0006g0115others(2): 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 | 174396808 | A | AAAAAAC | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp2 others(68): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014a0001c0001t0001g0067a0001c0001t0001g0210others(58): Show | 71 | 348 | 0.2040 | 6 | c.-11 others(17): Show |
CIR1 | ENSG00000138433.16 | transcript | ENST00000342016.8 | protein_coding | 1097 | chr2 | TogoVar | ||||||
CISD2_chr4_102863992_102897807 | 102893281 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp2 others(107): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0005others(63): Show | 110 | 354 | 0.3107 | 6 | c.*58 others(17): Show |
CISD2 | ENSG00000145354.12 | transcript | ENST00000273986.10 | protein_coding | 475 | chr4 | TogoVar | ||||||
CISD3_chr17_38725341_38740605 | 38732938 | G | GACACAC | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp1 HG02717.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0007a0001c0001t0003g0007a0001c0001t0006g0007others(2): Show | 10 | 411 | 0.0243 | 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 | 50614500 | A | AGTGTGT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0004g0007a0001c0002t0002g0002others(5): Show | 61 | 360 | 0.1694 | 6 | c.-28 others(17): Show |
CISH | ENSG00000114737.16 | transcript | ENST00000348721.4 | protein_coding | 2727 | chr3 | TogoVar | ||||||
CITED1_chrX_72296646_72310914 | 72310407 | G | GACACAC | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02080.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0009a0001c0003t0001g0016 | 5 | 302 | 0.0166 | 6 | c.-46 others(17): Show |
CITED1 | ENSG00000125931.11 | transcript | ENST00000651998.1 | protein_coding | 4494 | chrX | TogoVar | ||||||
CITED4_chr1_40856054_40867363 | 40860178 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(161): Show |
a0002a0005a0007 | a0002c0002a0002c0010a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0008others(5): Show | a0002c0002t0002g0000a0002c0002t0005g0000a0002c0002t0008g0000others(5): Show | 164 | 440 | 0.3727 | 6 | c.*13 others(17): Show |
CITED4 | ENSG00000179862.7 | transcript | ENST00000372638.4 | protein_coding | 875 | chr1 | TogoVar | ||||||
CITED4_chr1_40856054_40867363 | 40863241 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG01928.hp2 others(5): Show |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0002a0005c0006t0002 | a0002c0002t0002g0000a0005c0006t0002g0000 | 8 | 440 | 0.0182 | 6 | c.-11 others(17): Show |
CITED4 | ENSG00000179862.7 | transcript | ENST00000372638.4 | protein_coding | 879 | chr1 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119752249 | T | TGAGAGA | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG02897.hp1 HG02976.hp1 |
a0002a0004 | a0002c0004a0004c0018 | a0002c0004t0007a0004c0018t0006 | a0002c0004t0007g0050a0004c0018t0006g0005a0004c0018t0006g0006 | 3 | 236 | 0.0127 | 6 | c.270 others(19): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 22/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119787730 | C | CAAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02451.hp1 others(17): Show |
a0001a0004a0010 | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0001g0034others(17): Show | 20 | 236 | 0.0848 | 6 | c.129 others(25): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 10/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119836284 | T | TAAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02818.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0050a0002c0004t0007g0052a0002c0004t0007g0053others(3): Show | 6 | 236 | 0.0254 | 6 | c.517 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119845943 | A | AACACAC | intron_variant | MODIFIER | HG00738.hp1 HG02257.hp2 HG02965.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0002t0013a0001c0006t0012others(5): Show | a0001c0001t0001g0010a0001c0002t0013g0048a0001c0006t0012g0142others(5): Show | 8 | 236 | 0.0339 | 6 | c.516 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 5/47 | chr12 | TogoVar | ||||||
CIT_chr12_119680791_119882320 | 119862808 | T | TAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG02258.hp1 HG02280.hp2 others(6): Show |
a0001a0002 | a0001c0005a0001c0007a0001c0034others(2): Show | a0001c0005t0010a0001c0007t0005a0001c0034t0001others(2): Show | a0001c0005t0010g0217a0001c0005t0010g0221a0001c0007t0005g0062others(6): Show | 9 | 236 | 0.0381 | 6 | c.239 others(23): Show |
CIT | ENSG00000122966.18 | transcript | ENST00000392521.7 | protein_coding | 3/47 | chr12 | TogoVar | ||||||
CIZ1_chr9_128161065_128196572 | 128188049 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(84): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0011others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0015others(68): Show | 87 | 380 | 0.2290 | 6 | c.287 others(21): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 3/16 | chr9 | TogoVar | ||||||
CKAP2L_chr2_112731349_112769609 | 112734169 | A | ATATGTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(63): Show |
a0001a0003 | a0001c0001a0001c0017a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0022others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0016others(39): Show | 66 | 300 | 0.2200 | 6 | c.*46 others(17): Show |
CKAP2L | ENSG00000169607.13 | transcript | ENST00000302450.11 | protein_coding | 2179 | chr2 | TogoVar | ||||||
CKAP2_chr13_52450478_52481627 | 52455635 | C | CGCGGTG | intron_variant | MODIFIER | HG01109.hp1 HG02040.hp1 HG02074.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0047a0001c0001t0002g0219a0001c0001t0002g0220others(9): Show | 13 | 406 | 0.0320 | 6 | c.70+ others(17): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CKAP2_chr13_52450478_52481627 | 52462302 | T | TTTTCTC | intron_variant | MODIFIER | HG02970.hp2 HG06807.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0005a0001c0013t0008 | a0001c0001t0005g0035a0001c0001t0005g0154a0001c0013t0008g0155 | 4 | 406 | 0.0099 | 6 | c.110 others(21): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CKAP5_chr11_46738048_46851280 | 46752219 | C | CACACAT | intron_variant | MODIFIER | HG00280.hp1 HG01257.hp2 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0019others(1): Show | 4 | 294 | 0.0136 | 6 | c.513 others(23): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 38/43 | chr11 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46802553 | G | GACACAC | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 NA19090.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0078a0001c0001t0002g0091a0001c0002t0003g0121 | 3 | 294 | 0.0102 | 6 | c.979 others(23): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 8/43 | chr11 | TogoVar | ||||||
CKAP5_chr11_46738048_46851280 | 46802557 | G | GACACAC | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256a0001c0001t0001g0257others(3): Show | 6 | 294 | 0.0204 | 6 | c.979 others(23): Show |
CKAP5 | ENSG00000175216.15 | transcript | ENST00000529230.6 | protein_coding | 8/43 | chr11 | TogoVar |