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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG2_chr4_88085269_88163639 | 88160848 | C | CA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(53): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0001g0072a0001c0001t0001g0091a0001c0001t0001g0095others(53): Show | 56 | 350 | 0.1600 | 1 | c.-24 others(6): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2210 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119149597 | A | AC | intron_variant | MODIFIER | HG01175.hp2 HG01978.hp2 NA18979.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0018a0001c0001t0002g0041a0001c0001t0002g0042others(1): Show | 6 | 388 | 0.0155 | 1 | c.-13 others(8): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ABCG4_chr11_119144052_119167653 | 119163102 | C | CA | downstream_gene_variant | MODIFIER | HG00673.hp1 HG02145.hp1 HG02273.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0002g0002others(4): Show | 11 | 388 | 0.0284 | 1 | c.*19 others(12): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 450 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119163918 | C | CT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01256.hp2 others(81): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0013a0001c0001t0003g0003a0001c0001t0003g0009others(30): Show | 84 | 388 | 0.2165 | 1 | c.*28 others(12): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1266 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119165864 | C | CT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01081.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 388 | 0.0180 | 1 | c.*47 others(12): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 3212 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119166172 | C | CT | downstream_gene_variant | MODIFIER | HG01168.hp1 HG02257.hp2 HG02723.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0047a0001c0001t0004g0043a0001c0001t0006g0059others(5): Show | 8 | 388 | 0.0206 | 1 | c.*50 others(12): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 3520 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119167184 | A | AT | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02572.hp1 HG02572.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0002g0004others(6): Show | 17 | 388 | 0.0438 | 1 | c.*60 others(12): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 4532 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43807743 | C | CA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00735.hp1 others(36): Show |
a0001a0003a0006 | a0001c0001a0001c0016a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0016t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(32): Show | 39 | 330 | 0.1182 | 1 | c.*53 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4728 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43808264 | G | GA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(137): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0010a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0064a0001c0001t0001g0094a0001c0001t0003g0010others(123): Show | 140 | 330 | 0.4242 | 1 | c.*48 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4207 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813674 | G | GT | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG00741.hp2 others(11): Show |
a0001a0003a0009 | a0001c0001a0001c0010a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0010t0004others(2): Show | a0001c0001t0003g0222a0001c0001t0004g0019a0001c0001t0004g0060others(10): Show | 14 | 330 | 0.0424 | 1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813697 | G | GT | intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0057a0001c0001t0001g0220a0001c0001t0001g0244others(4): Show | 7 | 330 | 0.0212 | 1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813709 | G | GT | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00642.hp1 others(58): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0016t0001others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0046others(53): Show | 61 | 330 | 0.1849 | 1 | c.176 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43815910 | G | GA | intron_variant | MODIFIER | HG01175.hp2 HG01884.hp1 HG02055.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0047a0001c0001t0001g0250a0001c0001t0007g0109others(10): Show | 13 | 330 | 0.0394 | 1 | c.165 others(10): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43822477 | G | GC | intron_variant | MODIFIER | HG01243.hp1 HG01993.hp1 HG02145.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0002c0002t0002a0006c0006t0006others(1): Show | a0001c0001t0001g0224a0002c0002t0002g0093a0002c0002t0002g0208others(4): Show | 7 | 330 | 0.0212 | 1 | c.146 others(18): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43822479 | C | CG | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01167.hp2 others(51): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0004a0001c0001t0001g0021a0001c0001t0001g0072others(43): Show | 54 | 330 | 0.1636 | 1 | c.146 others(18): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43824434 | T | TA | splice_region_variant others(1): Show |
LOW | NA18950.hp2 NA18991.hp1 NA18993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0097a0001c0001t0001g0144 | 4 | 330 | 0.0121 | 1 | c.905 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 7/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43826166 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp1 HG01884.hp1 others(6): Show |
a0001a0002a0005 | a0001c0001a0002c0009a0005c0005 | a0001c0001t0001a0002c0009t0002a0005c0005t0002others(1): Show | a0001c0001t0001g0228a0001c0001t0001g0229a0001c0001t0001g0244others(6): Show | 9 | 330 | 0.0273 | 1 | c.774 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43827325 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG00609.hp2 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0040a0001c0001t0001g0094a0001c0001t0001g0101others(34): Show | 38 | 330 | 0.1152 | 1 | c.634 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43828472 | C | CA | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01192.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0098a0001c0001t0001g0120a0001c0001t0003g0069others(23): Show | 28 | 330 | 0.0849 | 1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43828858 | C | CG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(176): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(141): Show | 179 | 330 | 0.5424 | 1 | c.502 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43836246 | A | AT | intron_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG03139.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0245a0002c0002t0002g0003 | 5 | 330 | 0.0152 | 1 | c.265 others(9): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43837035 | G | GA | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0143a0002c0002t0002g0170a0002c0002t0002g0171others(3): Show | 6 | 330 | 0.0182 | 1 | c.265 others(8): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | C | CT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01070.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0020others(7): Show | 10 | 330 | 0.0303 | 1 | c.-72 others(5): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43842779 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(154): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0010a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(119): Show | 157 | 330 | 0.4758 | 1 | c.-41 others(6): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3941 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43836246 | A | AT | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0003 | a0003c0011 | a0003c0011t0012a0003c0011t0100 | a0003c0011t0012g0001a0003c0011t0012g0061a0003c0011t0100g0001 | 4 | 318 | 0.0126 | 1 | c.-28 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2724 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43837035 | G | GA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02622.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0002a0003c0017 | a0001c0001t0004a0003c0002t0029a0003c0002t0050others(1): Show | a0001c0001t0004g0047a0003c0002t0029g0150a0003c0002t0029g0151others(2): Show | 6 | 318 | 0.0189 | 1 | c.-20 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1935 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43839403 | C | CT | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01070.hp2 others(6): Show |
a0001a0003a0005 | a0001c0008a0003c0002a0003c0014others(1): Show | a0001c0008t0008a0003c0002t0002a0003c0002t0003others(5): Show | a0001c0008t0008g0274a0003c0002t0002g0275a0003c0002t0002g0282others(6): Show | 9 | 318 | 0.0283 | 1 | c.63+ others(7): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43842779 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(146): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0008a0003c0002others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(57): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(135): Show | 149 | 318 | 0.4686 | 1 | c.64- others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43845121 | A | AT | intron_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01123.hp2 others(14): Show |
a0001a0004a0013 | a0001c0001a0001c0008a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0015others(6): Show | a0001c0001t0001g0130a0001c0001t0010g0011a0001c0001t0010g0012others(12): Show | 17 | 318 | 0.0535 | 1 | c.165 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43847750 | G | GT | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01099.hp1 others(4): Show |
a0003 | a0003c0002a0003c0017 | a0003c0002t0022a0003c0002t0029a0003c0002t0050others(1): Show | a0003c0002t0022g0015a0003c0002t0029g0150a0003c0002t0029g0151others(2): Show | 7 | 318 | 0.0220 | 1 | c.322 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43847927 | A | AT | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02486.hp1 others(9): Show |
a0007a0009a0011 | a0007c0009a0007c0020a0009c0012others(1): Show | a0007c0009t0024a0007c0009t0030a0007c0009t0053others(4): Show | a0007c0009t0024g0005a0007c0009t0024g0032a0007c0009t0030g0033others(8): Show | 12 | 318 | 0.0377 | 1 | c.322 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43849021 | T | TA | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01928.hp1 others(20): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0032others(17): Show | a0001c0001t0001g0105a0001c0001t0010g0116a0001c0001t0032g0070others(18): Show | 23 | 318 | 0.0723 | 1 | c.323 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43850909 | C | CA | intron_variant | MODIFIER | HG01255.hp2 HG02055.hp2 HG02622.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0014a0001c0001t0060a0001c0008t0054others(4): Show | a0001c0001t0014g0065a0001c0001t0060g0087a0001c0008t0054g0141others(4): Show | 7 | 318 | 0.0220 | 1 | c.323 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43853541 | T | TA | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 1 | c.964 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43854626 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(156): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0008a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(70): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(144): Show | 159 | 318 | 0.5000 | 1 | c.964 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43854640 | A | AG | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG03098.hp1 others(2): Show |
a0009a0011 | a0009c0012a0011c0031 | a0009c0012t0025a0009c0012t0078a0011c0031t0049 | a0009c0012t0025g0027a0009c0012t0025g0028a0009c0012t0025g0029others(2): Show | 5 | 318 | 0.0157 | 1 | c.964 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43858741 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(144): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0008a0003c0002others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(135): Show | 147 | 318 | 0.4623 | 1 | c.964 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43865636 | T | TG | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 1 | c.965 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43865639 | T | TG | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 1 | c.965 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43867347 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp1 others(193): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0008a0003c0002others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(89): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(179): Show | 196 | 318 | 0.6164 | 1 | c.965 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43873189 | A | AT | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG01978.hp2 others(20): Show |
a0002a0003a0006others(2): Show | a0002c0003a0002c0004a0003c0002others(5): Show | a0002c0003t0012a0002c0003t0094a0002c0003t0099others(13): Show | a0002c0003t0012g0147a0002c0003t0094g0170a0002c0003t0099g0035others(19): Show | 23 | 318 | 0.0723 | 1 | c.121 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43874398 | A | AT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00438.hp2 HG00597.hp1 others(70): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0024others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(39): Show | a0001c0001t0001g0082a0001c0001t0001g0098a0001c0001t0001g0099others(64): Show | 73 | 318 | 0.2296 | 1 | c.141 others(14): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 9/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43874510 | G | GC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(87): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(49): Show | a0001c0001t0001g0130a0001c0001t0004g0047a0001c0001t0004g0092others(82): Show | 90 | 318 | 0.2830 | 1 | c.148 others(8): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43874726 | T | TA | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02809.hp2 others(4): Show |
a0003a0007a0016 | a0003c0002a0003c0010a0007c0020others(1): Show | a0003c0002t0046a0003c0002t0102a0003c0002t0104others(3): Show | a0003c0002t0046g0016a0003c0002t0102g0161a0003c0002t0104g0242others(3): Show | 7 | 318 | 0.0220 | 1 | c.148 others(9): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43880166 | A | AT | 3_prime_UTR_variant | MODIFIER | HG01106.hp2 HG02451.hp1 HG02572.hp1 others(8): Show |
a0001a0003a0018 | a0001c0001a0003c0002a0018c0019 | a0001c0001t0010a0001c0001t0038a0003c0002t0081others(1): Show | a0001c0001t0010g0011a0001c0001t0010g0012a0001c0001t0010g0116others(6): Show | 11 | 318 | 0.0346 | 1 | c.*22 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2260 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABCG8_chr2_43833971_43887988 | 43880173 | G | GT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0002c0003others(5): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0019others(36): Show | a0001c0001t0004g0008a0001c0001t0004g0009a0001c0001t0004g0047others(77): Show | 83 | 318 | 0.2610 | 1 | c.*22 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2265 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABCG8_chr2_43833971_43887988 | 43881707 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00558.hp1 others(93): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0002c0003others(15): Show | a0001c0001t0014a0001c0001t0015a0001c0001t0019others(51): Show | a0001c0001t0014g0065a0001c0001t0015g0057a0001c0001t0015g0142others(88): Show | 96 | 318 | 0.3019 | 1 | c.*38 others(6): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 3813 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABCG8_chr2_43833971_43887988 | 43885063 | G | GT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(112): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0008a0002c0003others(12): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(50): Show | a0001c0001t0004g0008a0001c0001t0004g0009a0001c0001t0004g0047others(105): Show | 115 | 318 | 0.3616 | 1 | c.*71 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2076 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CA | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02602.hp1 HG02809.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0071a0002c0003t0099a0002c0003t0119others(3): Show | a0001c0001t0071g0106a0002c0003t0099g0035a0002c0003t0119g0186others(3): Show | 6 | 318 | 0.0189 | 1 | c.*92 others(12): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111977069 | A | AG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00735.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(8): Show | 43 | 424 | 0.1014 | 1 | c.-19 others(12): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1956 | chr3 | TogoVar |