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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTF2I_chr7_74652718_74765692 | 74712487 | AGTGTGTG others(9): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116a0001c0002t0001g0117 | 2 | 174 | 0.0115 | -16 | c.763 others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2I_chr7_74652718_74765692 | 74726834 | CAGATAGA others(9): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG02056.hp1 NA18947.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0062others(5): Show | 8 | 174 | 0.0460 | -16 | c.944 others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2I_chr7_74652718_74765692 | 74726899 | AATAGATA others(9): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(3): Show | 6 | 174 | 0.0345 | -16 | c.944 others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF3C2_chr2_27320854_27361764 | 27338446 | GCACGCGC others(9): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(9): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0020a0001c0002t0001g0168a0001c0002t0001g0197others(8): Show | 12 | 286 | 0.0420 | -16 | c.856 others(31): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 4/18 | chr2 | TogoVar | ||||||
GTF3C2_chr2_27320854_27361764 | 27346330 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01074.hp1 NA18612.hp1 NA19074.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0039a0001c0001t0001g0048a0001c0001t0001g0049others(3): Show | 6 | 286 | 0.0210 | -16 | c.-24 others(33): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196795529 | GAGGAACA others(9): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01069.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(1): Show | a0001c0001t0001g0171a0001c0001t0001g0172a0002c0002t0001g0001others(30): Show | 47 | 252 | 0.1865 | -16 | c.214 others(33): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110972322 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(135): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(30): Show | 138 | 346 | 0.3988 | -16 | c.*45 others(27): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 4451 | chr6 | TogoVar | ||||||
GTPBP10_chr7_90341716_90396453 | 90371010 | GATAAATA others(9): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0223 | 1 | 390 | 0.0026 | -16 | c.465 others(33): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTPBP1_chr22_38700944_38738587 | 38704278 | TTTTTTTT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00673.hp1 others(50): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0011a0001c0001t0012a0001c0001t0033others(9): Show | a0001c0001t0011g0010a0001c0001t0012g0066a0001c0001t0033g0074others(26): Show | 53 | 382 | 0.1387 | -16 | c.-16 others(27): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 1665 | chr22 | TogoVar | ||||||
GTPBP2_chr6_43615494_43634264 | 43619364 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03209.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0073a0001c0003t0006g0032 | 2 | 382 | 0.0052 | -16 | c.*22 others(27): Show |
GTPBP2 | ENSG00000172432.19 | transcript | ENST00000307126.10 | protein_coding | 1129 | chr6 | TogoVar | ||||||
GTPBP3_chr19_17332553_17347731 | 17343012 | AGTGTGTG others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(193): Show |
a0000a0001a0002others(6): Show | a0000c0004a0000c0005a0000c0007others(10): Show | a0000c0004t0001a0000c0004t0002a0000c0005t0002others(20): Show | a0000c0004t0001g0006a0000c0004t0001g0019a0000c0004t0001g0042others(56): Show | 196 | 408 | 0.4804 | -16 | c.*13 others(27): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 282 | chr19 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322361 | AAAAAGAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0142 | 1 | 155 | 0.0065 | -16 | c.-35 others(27): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3566 | chrX | TogoVar | ||||||
GTSF1_chr12_54450957_54478602 | 54476544 | TTGTGTGT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02040.hp1 HG02071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0100others(3): Show | 10 | 360 | 0.0278 | -16 | c.-30 others(27): Show |
GTSF1 | ENSG00000170627.11 | transcript | ENST00000305879.8 | protein_coding | 2943 | chr12 | TogoVar | ||||||
GUCA1ANB_chr6_42150406_42168418 | 42162090 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01256.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0030others(8): Show | 18 | 450 | 0.0400 | -16 | c.10- others(29): Show |
GUCA1ANB | ENSG00000287363.4 | transcript | ENST00000623004.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GUCA1ANB_chr6_42150406_42168418 | 42167942 | GACCACAG others(9): Show |
G | downstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 450 | 0.0022 | -16 | c.*46 others(27): Show |
GUCA1ANB | ENSG00000287363.4 | transcript | ENST00000623004.2 | protein_coding | 4525 | chr6 | TogoVar | ||||||
GUCA1B_chr6_42178284_42199956 | 42188293 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG01081.hp2 others(28): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(4): Show | a0001c0002t0001g0014a0001c0002t0001g0019a0001c0002t0001g0121others(22): Show | 31 | 418 | 0.0742 | -16 | c.357 others(31): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108922154 | TACACAAA others(9): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02897.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0080a0002c0002t0001g0081a0002c0002t0001g0286others(1): Show | 4 | 374 | 0.0107 | -16 | c.205 others(33): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108955590 | TAAAAAAA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02717.hp1 HG02809.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0244others(4): Show | 7 | 374 | 0.0187 | -16 | c.-18 others(27): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | ||||||
GUCY1A1_chr4_155661848_155742059 | 155723627 | CATTTATT others(9): Show |
C | intron_variant | MODIFIER | HG03195.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0069 | a0001c0001t0003g0056a0002c0002t0069g0108 | 2 | 330 | 0.0061 | -16 | c.187 others(35): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GUCY1A2_chr11_106669019_107023476 | 106669027 | TATATATA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0058a0001c0010t0005 | a0001c0004t0058g0217a0001c0010t0005g0166 | 2 | 256 | 0.0078 | -16 | c.*18 others(29): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4991 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106855893 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0002t0031others(1): Show | a0001c0001t0003g0083a0001c0001t0004g0116a0001c0002t0031g0196others(1): Show | 4 | 256 | 0.0156 | -16 | c.120 others(37): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106922662 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01069.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0124a0001c0001t0001g0127a0001c0001t0001g0146others(11): Show | 14 | 256 | 0.0547 | -16 | c.120 others(37): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
GUCY1A2_chr11_106669019_107023476 | 106957855 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG01496.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0001t0004g0173a0001c0001t0004g0174a0001c0002t0002g0185others(6): Show | 9 | 256 | 0.0352 | -16 | c.488 others(35): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | ||||||
GUCY2C_chr12_14607632_14701599 | 14609551 | AATTTATT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 | 1 | 236 | 0.0042 | -16 | c.*35 others(27): Show |
GUCY2C | ENSG00000070019.5 | transcript | ENST00000261170.5 | protein_coding | 3080 | chr12 | TogoVar | ||||||
GUCY2F_chrX_109367906_109487086 | 109481092 | AAGGAAGG others(9): Show |
A | intron_variant | MODIFIER | HG02976.hp1 NA19240.hp2 NA21309.hp1 |
a0007a0011a0013 | a0007c0008a0011c0012a0013c0013 | a0007c0008t0001a0011c0012t0001a0013c0013t0001 | a0007c0008t0001g0164a0011c0012t0001g0166a0013c0013t0001g0165 | 3 | 217 | 0.0138 | -16 | c.-86 others(31): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
GUK1_chr1_228135279_228153951 | 228139922 | ACGTAGCA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0036a0001c0001t0001g0040others(2): Show | 7 | 422 | 0.0166 | -16 | c.-38 others(25): Show |
GUK1 | ENSG00000143774.18 | transcript | ENST00000453943.6 | protein_coding | 356 | chr1 | TogoVar | ||||||
GVQW3_chr11_76376323_76413132 | 76400006 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0099 | 1 | 382 | 0.0026 | -16 | c.466 others(33): Show |
GVQW3 | ENSG00000179240.13 | transcript | ENST00000529331.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GXYLT1_chr12_42076845_42149874 | 42136751 | TATACATA others(9): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0254a0001c0001t0009g0256a0001c0001t0009g0257 | 3 | 398 | 0.0075 | -16 | c.222 others(33): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
GXYLT2_chr3_72883046_72981915 | 72936291 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01081.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0205a0001c0001t0002g0010a0001c0001t0002g0014others(26): Show | 29 | 296 | 0.0980 | -16 | c.600 others(35): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2845565 | GTGTATAC others(9): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130a0001c0001t0004g0131 | 2 | 316 | 0.0063 | -16 | c.149 others(33): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2846051 | ATATATTT others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0135a0001c0001t0001g0139a0001c0001t0001g0140others(25): Show | 28 | 316 | 0.0886 | -16 | c.149 others(33): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2846053 | ATATTTTT others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01168.hp1 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(5): Show | a0001c0001t0001g0074a0001c0001t0001g0194a0001c0001t0001g0298others(10): Show | 13 | 316 | 0.0411 | -16 | c.149 others(33): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2846055 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(46): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0098others(44): Show | 49 | 316 | 0.1551 | -16 | c.149 others(33): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2856956 | CATCTGTT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0289a0001c0001t0001g0293others(28): Show | 32 | 316 | 0.1013 | -16 | c.614 others(31): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2856963 | TTATCTAT others(9): Show |
T | intron_variant | MODIFIER | HG00733.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0192a0001c0001t0007g0191 | 2 | 316 | 0.0063 | -16 | c.614 others(31): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2871689 | CAAATAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(194): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(190): Show | 197 | 316 | 0.6234 | -16 | c.103 others(35): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYG2_chrX_2823930_2887818 | 2876033 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0193 | 1 | 316 | 0.0032 | -16 | c.114 others(33): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GYPC_chr2_126651158_126701667 | 126663950 | GTCTCTCT others(9): Show |
G | intron_variant | MODIFIER | HG02717.hp1 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0298a0001c0002t0003g0133 | 2 | 416 | 0.0048 | -16 | c.49+ others(31): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GYPC_chr2_126651158_126701667 | 126666708 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | NA18957.hp2 NA18981.hp1 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0073a0001c0001t0002g0023a0001c0001t0002g0184others(1): Show | 5 | 416 | 0.0120 | -16 | c.49+ others(33): Show |
GYPC | ENSG00000136732.16 | transcript | ENST00000259254.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GYS1_chr19_48963130_48998309 | 48979336 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 390 | 0.0026 | -16 | c.117 others(35): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21534613 | AAGAAAGA others(9): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0130 | 1 | 312 | 0.0032 | -16 | c.*23 others(27): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 1493 | chr12 | TogoVar | ||||||
GYS2_chr12_21531107_21609847 | 21565390 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0289 | 1 | 312 | 0.0032 | -16 | c.824 others(33): Show |
GYS2 | ENSG00000111713.3 | transcript | ENST00000261195.3 | protein_coding | 5/15 | chr12 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129540468 | GTATATAT others(9): Show |
G | upstream_gene_variant | MODIFIER | HG03239.hp1 HG03669.hp2 NA18957.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004a0002c0002t0001g0003a0002c0002t0001g0010 | 8 | 422 | 0.0190 | -16 | c.-27 others(27): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2706 | chr3 | TogoVar | ||||||
H1-8_chr3_129538175_129556467 | 129540508 | ATATATAT others(9): Show |
A | upstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 422 | 0.0024 | -16 | c.-27 others(27): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 2666 | chr3 | TogoVar | ||||||
H2AC12_chr6_27142106_27152562 | 27145295 | TACACACA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 382 | 0.0052 | -16 | c.-18 others(27): Show |
H2AC12 | ENSG00000274997.2 | transcript | ENST00000377459.3 | protein_coding | 1810 | chr6 | TogoVar | ||||||
H2AC15_chr6_27832880_27843375 | 27840742 | AAAATAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 408 | 0.0025 | -16 | c.-24 others(27): Show |
H2AC15 | ENSG00000275221.2 | transcript | ENST00000618958.2 | protein_coding | 2368 | chr6 | TogoVar | ||||||
H2AC19_chr1_149846061_149856594 | 149855384 | GGTGTGTG others(9): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 328 | 0.0031 | -16 | c.*38 others(27): Show |
H2AC19 | ENSG00000288859.1 | transcript | ENST00000607355.3 | protein_coding | 3791 | chr1 | TogoVar | ||||||
H2AX_chr11_119088874_119100465 | 119090614 | CTTTTTTT others(9): Show |
C | downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 430 | 0.0023 | -16 | c.*43 others(27): Show |
H2AX | ENSG00000188486.4 | transcript | ENST00000530167.2 | protein_coding | 3259 | chr11 | TogoVar | ||||||
H2AZ2_chr7_44826978_44853087 | 44840029 | ATAAATAA others(9): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02818.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0021 | a0001c0001t0009g0171a0001c0001t0009g0173a0001c0001t0009g0174others(1): Show | 4 | 406 | 0.0099 | -16 | c.195 others(31): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
H2AZ2_chr7_44826978_44853087 | 44843137 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0003g0221a0001c0001t0004g0132a0001c0001t0004g0133others(2): Show | 5 | 406 | 0.0123 | -16 | c.81+ others(29): Show |
H2AZ2 | ENSG00000105968.19 | transcript | ENST00000308153.9 | protein_coding | 2/4 | chr7 | TogoVar |