| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCSER2_chr10_84323589_84523517 | 84441736 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp1 HG02451.hp2 others(11): Show |
a0002a0003a0012 | a0002c0002a0002c0003a0003c0004others(1): Show | a0002c0002t0010a0002c0003t0006a0003c0004t0007others(2): Show | a0002c0002t0010g0138a0002c0002t0010g0141a0002c0002t0010g0142others(11): Show | 14 | 370 | 0.0378 | -10 | c.206 others(29): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84455273 | TTTTCTTT others(3): Show |
T | intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0092 | 1 | 370 | 0.0027 | -10 | c.206 others(29): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84465239 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01081.hp1 others(14): Show |
a0001 | a0001c0001a0001c0006a0001c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0236a0001c0001t0001g0282a0001c0001t0002g0196others(14): Show | 17 | 370 | 0.0460 | -10 | c.214 others(29): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84476435 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02145.hp1 HG02572.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0067a0003c0004t0007g0068a0003c0004t0007g0069others(4): Show | 7 | 370 | 0.0189 | -10 | c.223 others(29): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCSER2_chr10_84323589_84523517 | 84483953 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01433.hp1 HG01891.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0020a0004c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0065a0001c0001t0004g0155a0001c0001t0004g0158others(7): Show | 10 | 370 | 0.0270 | -10 | c.232 others(29): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CCS_chr11_66588185_66611019 | 66603845 | CAACAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 404 | 0.0025 | -10 | c.490 others(27): Show |
CCS | ENSG00000173992.9 | transcript | ENST00000533244.6 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CCT2_chr12_69580459_69606570 | 69580494 | ATTTTTTT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 410 | 0.0024 | -10 | c.-50 others(21): Show |
CCT2 | ENSG00000166226.13 | transcript | ENST00000299300.11 | protein_coding | 4964 | chr12 | TogoVar | ||||||
| CCT2_chr12_69580459_69606570 | 69596693 | TCTTGTGC others(3): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 410 | 0.0024 | -10 | c.983 others(25): Show |
CCT2 | ENSG00000166226.13 | transcript | ENST00000299300.11 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
| CCT4_chr2_61863085_61893656 | 61868436 | CTTTTATT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 2 | 414 | 0.0048 | -10 | c.*24 others(19): Show |
CCT4 | ENSG00000115484.15 | transcript | ENST00000394440.8 | protein_coding | 14/14 | 246 | chr2 | TogoVar | |||||
| CCT4_chr2_61863085_61893656 | 61883773 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0166 | 2 | 414 | 0.0048 | -10 | c.181 others(25): Show |
CCT4 | ENSG00000115484.15 | transcript | ENST00000394440.8 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
| CCT4_chr2_61863085_61893656 | 61889202 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 414 | 0.0048 | -10 | c.-70 others(19): Show |
CCT4 | ENSG00000115484.15 | transcript | ENST00000394440.8 | protein_coding | 547 | chr2 | TogoVar | ||||||
| CCT5_chr5_10245280_10271389 | 10249897 | TAAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0026 | 1 | 374 | 0.0027 | -10 | c.-44 others(19): Show |
CCT5 | ENSG00000150753.12 | transcript | ENST00000280326.9 | protein_coding | 382 | chr5 | TogoVar | ||||||
| CCT5_chr5_10245280_10271389 | 10249925 | AAAAAAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01071.hp2 others(25): Show |
a0001a0005 | a0001c0001a0001c0016a0005c0010 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(12): Show | 28 | 374 | 0.0749 | -10 | c.-41 others(19): Show |
CCT5 | ENSG00000150753.12 | transcript | ENST00000280326.9 | protein_coding | 354 | chr5 | TogoVar | ||||||
| CCT8L2_chr22_16585751_16597810 | 16597383 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 432 | 0.0046 | -10 | c.-48 others(21): Show |
CCT8L2 | ENSG00000198445.4 | transcript | ENST00000359963.4 | protein_coding | 4574 | chr22 | TogoVar | ||||||
| CCZ1B_chr7_6793937_6831275 | 6810240 | AGACCTCA others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01346.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0183a0001c0001t0004g0184a0001c0001t0004g0185others(4): Show | 7 | 354 | 0.0198 | -10 | c.954 others(27): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
| CCZ1_chr7_5893733_5931550 | 5899332 | GGGGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0020a0001c0001t0002g0054a0001c0001t0002g0055others(31): Show | 34 | 114 | 0.2983 | -10 | c.120 others(25): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CCZ1_chr7_5893733_5931550 | 5912376 | CCTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG03486.hp1 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0014 | a0002c0002t0001g0074a0002c0002t0001g0084a0002c0008t0014g0018 | 3 | 114 | 0.0263 | -10 | c.842 others(25): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 9/14 | chr7 | TogoVar | ||||||
| CCZ1_chr7_5893733_5931550 | 5912377 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0021 | 1 | 114 | 0.0088 | -10 | c.843 others(25): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CD101_chr1_116996760_117041552 | 117014185 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0040 | a0002c0040t0001 | a0002c0040t0001g0354 | 1 | 426 | 0.0024 | -10 | c.122 others(27): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD101_chr1_116996760_117041552 | 117029199 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | NA18953.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0216 | 2 | 426 | 0.0047 | -10 | c.282 others(29): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD101_chr1_116996760_117041552 | 117029203 | GAAAAGAA others(3): Show |
G | intron_variant | MODIFIER | HG02015.hp2 NA18956.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0042a0001c0003t0001g0154 | 2 | 426 | 0.0047 | -10 | c.282 others(29): Show |
CD101 | ENSG00000134256.13 | transcript | ENST00000682167.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73705623 | AAAAAGAA others(3): Show |
A | intron_variant | MODIFIER | NA18949.hp1 | a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0179 | 1 | 362 | 0.0028 | -10 | c.247 others(27): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73707962 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG03516.hp2 others(1): Show |
a0002a0003a0006 | a0002c0003a0003c0004a0006c0007 | a0002c0003t0004a0003c0004t0005a0003c0004t0024others(1): Show | a0002c0003t0004g0043a0003c0004t0005g0042a0003c0004t0024g0192others(1): Show | 4 | 362 | 0.0111 | -10 | c.247 others(29): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73742992 | AGGCAGTG others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0004 | a0003c0004t0035 | a0003c0004t0035g0144 | 1 | 362 | 0.0028 | -10 | c.633 others(27): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73761014 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG01346.hp1 others(25): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0028a0001c0001t0043others(13): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0140others(25): Show | 28 | 362 | 0.0774 | -10 | c.759 others(27): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73791132 | CATACATA others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00621.hp1 others(4): Show |
a0004a0007a0012 | a0004c0005a0004c0035a0007c0009others(1): Show | a0004c0005t0008a0004c0005t0012a0004c0005t0039others(3): Show | a0004c0005t0008g0033a0004c0005t0008g0339a0004c0005t0012g0122others(4): Show | 7 | 362 | 0.0193 | -10 | c.270 others(29): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73791186 | CACATACA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02559.hp2 others(3): Show |
a0004a0008a0009 | a0004c0005a0008c0011a0009c0020 | a0004c0005t0015a0008c0011t0013a0009c0020t0009 | a0004c0005t0015g0324a0008c0011t0013g0231a0008c0011t0013g0318others(3): Show | 6 | 362 | 0.0166 | -10 | c.270 others(29): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD109_chr6_73691203_73833313 | 73808805 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp2 HG02572.hp2 others(15): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0047a0003c0004others(4): Show | a0001c0001t0009a0001c0001t0021a0001c0001t0043others(8): Show | a0001c0001t0009g0004a0001c0001t0021g0238a0001c0001t0043g0076others(15): Show | 18 | 362 | 0.0497 | -10 | c.335 others(27): Show |
CD109 | ENSG00000156535.15 | transcript | ENST00000287097.6 | protein_coding | 26/32 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD151_chr11_827952_843831 | 832903 | CCGGGGCG others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 446 | 0.0022 | -10 | c.-19 others(19): Show |
CD151 | ENSG00000177697.19 | transcript | ENST00000397420.9 | protein_coding | 48 | chr11 | TogoVar | ||||||
| CD163L1_chr12_7349960_7449153 | 7421761 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0083 | 1 | 384 | 0.0026 | -10 | c.766 others(29): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar | ||||||
| CD164L2_chr1_27374176_27388333 | 27378410 | AGCCTGGA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG02895.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0003a0002c0002t0001g0033a0002c0002t0009g0035 | 4 | 354 | 0.0113 | -10 | c.*10 others(21): Show |
CD164L2 | ENSG00000174950.11 | transcript | ENST00000374030.3 | protein_coding | 765 | chr1 | TogoVar | ||||||
| CD180_chr5_67174613_67201799 | 67181024 | CACACACA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0109 | 1 | 408 | 0.0025 | -10 | c.*18 others(21): Show |
CD180 | ENSG00000134061.5 | transcript | ENST00000256447.5 | protein_coding | 3/3 | 1823 | chr5 | TogoVar | |||||
| CD180_chr5_67174613_67201799 | 67185281 | CCCCTCTT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02109.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0007 | a0001c0003t0004g0055a0001c0003t0007g0025a0001c0003t0007g0124others(1): Show | 8 | 408 | 0.0196 | -10 | c.257 others(25): Show |
CD180 | ENSG00000134061.5 | transcript | ENST00000256447.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| CD180_chr5_67174613_67201799 | 67186848 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 408 | 0.0025 | -10 | c.91- others(23): Show |
CD180 | ENSG00000134061.5 | transcript | ENST00000256447.5 | protein_coding | 1/2 | chr5 | TogoVar | ||||||
| CD19_chr16_28926971_28944342 | 28929845 | GATATATA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp2 HG03239.hp2 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0005a0002c0003t0001 | a0001c0006t0005g0007a0002c0003t0001g0028 | 2 | 400 | 0.0050 | -10 | c.-21 others(21): Show |
CD19 | ENSG00000177455.15 | transcript | ENST00000538922.8 | protein_coding | 2125 | chr16 | TogoVar | ||||||
| CD19_chr16_28926971_28944342 | 28929885 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -10 | c.-21 others(21): Show |
CD19 | ENSG00000177455.15 | transcript | ENST00000538922.8 | protein_coding | 2085 | chr16 | TogoVar | ||||||
| CD19_chr16_28926971_28944342 | 28929887 | TATATATA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 400 | 0.0025 | -10 | c.-21 others(21): Show |
CD19 | ENSG00000177455.15 | transcript | ENST00000538922.8 | protein_coding | 2083 | chr16 | TogoVar | ||||||
| CD1A_chr1_158249424_158263269 | 158252896 | TCAAAACA others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18986.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0028 | 2 | 446 | 0.0045 | -10 | c.-17 others(21): Show |
CD1A | ENSG00000158477.7 | transcript | ENST00000289429.6 | protein_coding | 1527 | chr1 | TogoVar | ||||||
| CD1A_chr1_158249424_158263269 | 158254031 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00642.hp2 others(29): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0001c0001t0002a0003c0009t0011 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0051others(8): Show | 32 | 446 | 0.0718 | -10 | c.-63 others(19): Show |
CD1A | ENSG00000158477.7 | transcript | ENST00000289429.6 | protein_coding | 392 | chr1 | TogoVar | ||||||
| CD1A_chr1_158249424_158263269 | 158254783 | CTCTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 446 | 0.0022 | -10 | c.58+ others(21): Show |
CD1A | ENSG00000158477.7 | transcript | ENST00000289429.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD1A_chr1_158249424_158263269 | 158254785 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00621.hp1 others(97): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0031a0001c0001t0001g0040a0001c0001t0002g0002others(14): Show | 100 | 446 | 0.2242 | -10 | c.58+ others(22): Show |
CD1A | ENSG00000158477.7 | transcript | ENST00000289429.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CD1D_chr1_158175895_158191427 | 158181058 | GGCGGCGC others(3): Show |
G | 5_prime_UTR_variant | MODIFIER | HG03017.hp1 HG03834.hp1 |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0005 | 2 | 434 | 0.0046 | -10 | c.-36 others(17): Show |
CD1D | ENSG00000158473.8 | transcript | ENST00000674085.2 | protein_coding | 1/6 | 27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| CD1D_chr1_158175895_158191427 | 158182157 | ACCCAAGA others(3): Show |
A | frameshift_variant | HIGH | NA19043.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0001 | 1 | 434 | 0.0023 | -10 | c.459 others(17): Show |
p.Gln others(5): Show |
CD1D | ENSG00000158473.8 | transcript | ENST00000674085.2 | protein_coding | 3/6 | 666/3492 | 459/1008 | 153/335 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CD200R1L_chr3_112810711_112851864 | 112811387 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 408 | 0.0025 | -10 | c.*45 others(21): Show |
CD200R1L | ENSG00000206531.12 | transcript | ENST00000488794.6 | protein_coding | 4323 | chr3 | TogoVar | ||||||
| CD207_chr2_70825211_70840816 | 70832658 | TTCCTGCC others(3): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0079 | 1 | 444 | 0.0023 | -10 | c.717 others(25): Show |
CD207 | ENSG00000116031.9 | transcript | ENST00000410009.5 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
| CD209_chr19_7734993_7752534 | 7737002 | CTATTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(166): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0016a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0002g0002others(34): Show | 169 | 454 | 0.3723 | -10 | c.*60 others(21): Show |
CD209 | ENSG00000090659.18 | transcript | ENST00000315599.12 | protein_coding | 2990 | chr19 | TogoVar | ||||||
| CD226_chr18_69848274_69952873 | 69880328 | GAGAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0135 | 1 | 256 | 0.0039 | -10 | c.728 others(27): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 3/5 | chr18 | TogoVar | ||||||
| CD226_chr18_69848274_69952873 | 69950971 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0113 | 1 | 256 | 0.0039 | -10 | c.-35 others(21): Show |
CD226 | ENSG00000150637.9 | transcript | ENST00000582621.6 | protein_coding | 3099 | chr18 | TogoVar | ||||||
| CD244_chr1_160825160_160867887 | 160828878 | AAGAAAGA others(3): Show |
A | downstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0232 | 1 | 404 | 0.0025 | -10 | c.*24 others(21): Show |
CD244 | ENSG00000122223.13 | transcript | ENST00000368034.9 | protein_coding | 1281 | chr1 | TogoVar | ||||||
| CD244_chr1_160825160_160867887 | 160853782 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02683.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0064a0001c0001t0003g0162 | 2 | 404 | 0.0050 | -10 | c.61+ others(25): Show |
CD244 | ENSG00000122223.13 | transcript | ENST00000368034.9 | protein_coding | 1/8 | chr1 | TogoVar |