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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20711786 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00642.hp1 others(27): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0002c0003others(15): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0003others(17): Show | a0001c0001t0001g0152a0001c0001t0001g0302a0001c0001t0001g0331others(27): Show | 30 | 360 | 0.0833 | 12 | c.242 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20731355 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0061 | a0061c0081 | a0061c0081t0008 | a0061c0081t0008g0111 | 1 | 360 | 0.0028 | 12 | c.286 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20733182 | C | CATTATTA others(5): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0033 | a0033c0103 | a0033c0103t0019 | a0033c0103t0019g0172 | 1 | 360 | 0.0028 | 12 | c.286 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20750383 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0015 | a0005c0015t0004 | a0005c0015t0004g0053 | 1 | 360 | 0.0028 | 12 | c.343 others(31): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75094019 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG03942.hp1 NA18952.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024 | a0001c0001t0001g0186a0001c0001t0004g0113a0001c0001t0024g0116 | 3 | 232 | 0.0129 | 12 | c.453 others(29): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01952.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0136a0001c0001t0001g0166others(1): Show | 4 | 232 | 0.0172 | 12 | c.334 others(29): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75122861 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00621.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0034a0001c0001t0001g0119others(26): Show | 29 | 232 | 0.1250 | 12 | c.169 others(29): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75153756 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01167.hp1 HG01169.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(21): Show | 24 | 232 | 0.1035 | 12 | c.168 others(29): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75156926 | C | CACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0227 | 1 | 232 | 0.0043 | 12 | c.-65 others(21): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 644 | chrX | TogoVar | ||||||
ABCB8_chr7_151023450_151052782 | 151030510 | C | CAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(138): Show |
a0001a0003a0005others(7): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(29): Show | a0001c0001t0001g0128a0001c0001t0004g0031a0001c0001t0004g0082others(74): Show | 141 | 400 | 0.3525 | 12 | c.95+ others(27): Show |
ABCB8 | ENSG00000197150.13 | transcript | ENST00000358849.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB9_chr12_122923992_122971463 | 122936957 | A | AGGAGGCT others(5): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 272 | 0.0037 | 12 | c.174 others(31): Show |
ABCB9 | ENSG00000150967.19 | transcript | ENST00000280560.13 | protein_coding | 9/11 | chr12 | TogoVar | ||||||
ABCC11_chr16_48160773_48252539 | 48243993 | G | GAATAAAT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp1 others(8): Show |
a0003a0004a0009others(1): Show | a0003c0018a0004c0009a0009c0010others(1): Show | a0003c0018t0002a0004c0009t0001a0004c0009t0010others(2): Show | a0003c0018t0002g0010a0004c0009t0001g0126a0004c0009t0001g0128others(8): Show | 11 | 158 | 0.0696 | 12 | c.-19 others(29): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 1/29 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0015 | a0001c0015t0013 | a0001c0015t0013g0038a0001c0015t0013g0062 | 2 | 249 | 0.0080 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02735.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0012a0001c0003t0001 | a0001c0001t0005g0104a0001c0001t0012g0105a0001c0003t0001g0039 | 3 | 249 | 0.0121 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01934.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0003t0004others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0070a0001c0001t0005g0109others(2): Show | 5 | 249 | 0.0201 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0120 | 1 | 249 | 0.0040 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0016 | a0005c0016t0006 | a0005c0016t0006g0088 | 1 | 249 | 0.0040 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02976.hp2 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0095a0001c0005t0005g0116 | 2 | 249 | 0.0080 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15944717 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0086a0001c0001t0010g0087 | 2 | 249 | 0.0080 | 12 | c.-50 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4898 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15949611 | G | GCGCCGCC others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00558.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0068a0001c0001t0001g0083a0001c0001t0003g0011others(32): Show | 35 | 249 | 0.1406 | 12 | c.-14 others(21): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 4 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15982803 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03471.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0003a0001c0004a0001c0041others(1): Show | a0001c0003t0005a0001c0004t0002a0001c0041t0027others(1): Show | a0001c0003t0005g0175a0001c0004t0002g0005a0001c0041t0027g0184others(1): Show | 4 | 249 | 0.0161 | 12 | c.49- others(29): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15995831 | C | CTACTTTT others(5): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0135 | 1 | 249 | 0.0040 | 12 | c.49- others(29): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15999769 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG02145.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0012a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0012g0033a0001c0002t0001g0232a0001c0002t0002g0193others(7): Show | 10 | 249 | 0.0402 | 12 | c.49- others(27): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15999809 | C | CTCTCTCC others(5): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0176 | 1 | 249 | 0.0040 | 12 | c.49- others(27): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03710.hp2 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0002a0001c0013t0002 | a0001c0002t0002g0193a0001c0013t0002g0090 | 2 | 249 | 0.0080 | 12 | c.49- others(27): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16006871 | C | CGGTGGCG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01516.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0001g0070a0001c0002t0001g0139a0001c0002t0001g0234others(8): Show | 11 | 249 | 0.0442 | 12 | c.49- others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16006877 | C | CGGTGGCG others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03017.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0002a0001c0017 | a0001c0002t0001a0001c0017t0002 | a0001c0002t0001g0080a0001c0002t0001g0082a0001c0002t0001g0137others(1): Show | 4 | 249 | 0.0161 | 12 | c.49- others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16007214 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG04184.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0001 | a0001c0001t0011g0097a0001c0002t0001g0137 | 2 | 249 | 0.0080 | 12 | c.49- others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02109.hp2 HG02280.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0030a0001c0001t0001g0086a0001c0001t0003g0031others(12): Show | 15 | 249 | 0.0602 | 12 | c.351 others(27): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16026464 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0167a0001c0001t0006g0220 | 2 | 249 | 0.0080 | 12 | c.616 others(29): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16033071 | T | TCCCTCTT others(5): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0076 | 1 | 249 | 0.0040 | 12 | c.616 others(25): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16038043 | A | AGGATGGA others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0040others(76): Show | 79 | 249 | 0.3173 | 12 | c.809 others(29): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16124335 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093a0001c0001t0006g0096 | 2 | 249 | 0.0080 | 12 | c.359 others(29): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 24/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16133372 | T | TTTTTTGT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0002t0019 | a0001c0001t0020g0102a0001c0002t0019g0100 | 2 | 249 | 0.0080 | 12 | c.396 others(29): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16139611 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0100 | 1 | 249 | 0.0040 | 12 | c.448 others(31): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16143530 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01934.hp2 HG02572.hp2 others(6): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(3): Show | a0001c0001t0001g0134a0001c0001t0001g0248a0001c0001t0010g0043others(6): Show | 9 | 249 | 0.0361 | 12 | c.*22 others(23): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 478 | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99795801 | A | AAGAAAGA others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01258.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0001t0001g0052a0001c0001t0001g0053a0001c0001t0001g0148others(16): Show | 19 | 336 | 0.0566 | 12 | c.633 others(29): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 6/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99806075 | G | GTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02818.hp1 others(4): Show |
a0001a0026 | a0001c0002a0026c0032 | a0001c0002t0003a0001c0002t0007a0026c0032t0001 | a0001c0002t0003g0130a0001c0002t0003g0131a0001c0002t0003g0224others(4): Show | 7 | 336 | 0.0208 | 12 | c.153 others(29): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 11/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99806077 | C | CTCTGTGT others(5): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02258.hp1 others(4): Show |
a0001a0004a0013 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0114a0001c0002t0002g0076a0001c0002t0002g0125others(4): Show | 7 | 336 | 0.0208 | 12 | c.153 others(29): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 11/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99814132 | T | TGTATATA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03130.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0159 | 3 | 336 | 0.0089 | 12 | c.209 others(30): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99814188 | C | CACACGTA others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0120 | 1 | 336 | 0.0030 | 12 | c.209 others(31): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ABCC2_chr10_99777640_99857594 | 99814527 | A | ACACACAT others(5): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18968.hp2 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0283a0001c0001t0001g0286others(1): Show | 4 | 336 | 0.0119 | 12 | c.209 others(31): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50651066 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02572.hp2 others(3): Show |
a0002a0004 | a0002c0006a0004c0007a0004c0023 | a0002c0006t0001a0004c0007t0001a0004c0023t0001 | a0002c0006t0001g0003a0004c0007t0001g0005a0004c0007t0001g0118others(3): Show | 6 | 342 | 0.0175 | 12 | c.46- others(27): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50671247 | A | AAGACTCT others(5): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 342 | 0.0029 | 12 | c.224 others(31): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673978 | T | TTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 342 | 0.0029 | 12 | c.259 others(29): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 342 | 0.0029 | 12 | c.259 others(29): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | C | CTTTCTCT others(5): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 342 | 0.0029 | 12 | c.259 others(29): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50673980 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 342 | 0.0029 | 12 | c.259 others(29): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50694129 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01069.hp2 others(38): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0042others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(8): Show | a0001c0001t0001g0035a0001c0001t0001g0043a0001c0001t0001g0190others(38): Show | 41 | 342 | 0.1199 | 12 | c.*29 others(23): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1877 | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50694129 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0098 | 1 | 342 | 0.0029 | 12 | c.*29 others(23): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1877 | chr17 | TogoVar |