| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GTDC1_chr2_143933068_144337512 | 144203150 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03540.hp2 NA20905.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0012a0001c0003t0003g0107a0001c0003t0003g0108 | 3 | 124 | 0.0242 | -14 | c.179 others(31): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
| GTDC1_chr2_143933068_144337512 | 144231843 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 124 | 0.0081 | -14 | c.-89 others(31): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
| GTF2B_chr1_88847633_88896567 | 88856266 | CAAAAACA others(7): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313a0001c0001t0004g0320a0001c0001t0004g0321others(2): Show | 5 | 372 | 0.0134 | -14 | c.817 others(29): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
| GTF2E1_chr3_120737744_120788069 | 120742024 | CCAGTGCA others(7): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0079 | 1 | 376 | 0.0027 | -14 | c.-80 others(23): Show |
GTF2E1 | ENSG00000153767.10 | transcript | ENST00000283875.6 | protein_coding | 719 | chr3 | TogoVar | ||||||
| GTF2E1_chr3_120737744_120788069 | 120761786 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00741.hp2 others(34): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0004 | a0001c0001t0001a0001c0006t0001a0007c0004t0001 | a0001c0001t0001g0006a0001c0001t0001g0020a0001c0001t0001g0021others(20): Show | 37 | 376 | 0.0984 | -14 | c.449 others(31): Show |
GTF2E1 | ENSG00000153767.10 | transcript | ENST00000283875.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GTF2E2_chr8_30573318_30663236 | 30637508 | AATTTTAT others(7): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(219): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(205): Show | 222 | 378 | 0.5873 | -14 | c.167 others(31): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
| GTF2F2_chr13_45115510_45289893 | 45127938 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 210 | 0.0048 | -14 | c.66+ others(29): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45191220 | AAAAAATA others(7): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0171 | 1 | 210 | 0.0048 | -14 | c.305 others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45220937 | ATGTGTGT others(7): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 210 | 0.0048 | -14 | c.386 others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45236490 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0019others(25): Show | 28 | 210 | 0.1333 | -14 | c.387 others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2H1_chr11_18317567_18372045 | 18367876 | AAAAAATA others(7): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -14 | c.*20 others(25): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 832 | chr11 | TogoVar | ||||||
| GTF2H2C_chr5_69555191_69600221 | 69589875 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 | 2 | 167 | 0.0120 | -14 | c.102 others(31): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GTF2H4_chr6_30903207_30919106 | 30904119 | ATTTTTTT others(7): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG02040.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0003a0001c0006t0003 | a0001c0001t0001g0006a0001c0002t0003g0005a0001c0002t0003g0008others(1): Show | 11 | 411 | 0.0268 | -14 | c.-42 others(25): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 4087 | chr6 | TogoVar | ||||||
| GTF2H4_chr6_30903207_30919106 | 30905345 | CTTTTCTT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 411 | 0.0024 | -14 | c.-30 others(25): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 2861 | chr6 | TogoVar | ||||||
| GTF2H5_chr6_158163350_158204344 | 158169679 | ATATATAA others(7): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0127 | a0001c0001t0127g0108 | 1 | 384 | 0.0026 | -14 | c.-34 others(29): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GTF2H5_chr6_158163350_158204344 | 158192905 | CAAAAAAA others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0066 | 1 | 384 | 0.0026 | -14 | c.*76 others(23): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 3/3 | 761 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| GTF2IRD1_chr7_74448906_74607605 | 74468676 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02129.hp2 HG02572.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0216a0001c0001t0001g0243a0002c0003t0003g0073others(7): Show | 10 | 262 | 0.0382 | -14 | c.-7+ others(31): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD1_chr7_74448906_74607605 | 74502353 | GGTCAGAA others(7): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0184 | 1 | 262 | 0.0038 | -14 | c.-6- others(29): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75112085 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 170 | 0.0059 | -14 | c.100 others(29): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75119191 | CAAAAAAA others(7): Show |
C | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 170 | 0.0059 | -14 | c.239 others(31): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2I_chr7_74652718_74765692 | 74712487 | AGTGTGTG others(7): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 174 | 0.0058 | -14 | c.763 others(31): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2I_chr7_74652718_74765692 | 74730713 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0001 | a0001c0001t0002g0134a0001c0001t0002g0153a0001c0001t0002g0157others(2): Show | 5 | 174 | 0.0287 | -14 | c.112 others(31): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF3A_chr13_27419619_27440823 | 27433299 | TCCCAGGT others(7): Show |
T | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 420 | 0.0024 | -14 | c.562 others(29): Show |
GTF3A | ENSG00000122034.17 | transcript | ENST00000381140.10 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
| GTF3C2_chr2_27320854_27361764 | 27338441 | GGCGCGCA others(7): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187 | 1 | 286 | 0.0035 | -14 | c.856 others(29): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 4/18 | chr2 | TogoVar | ||||||
| GTF3C2_chr2_27320854_27361764 | 27346330 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0097a0001c0001t0001g0152a0001c0002t0001g0151others(6): Show | 9 | 286 | 0.0315 | -14 | c.-24 others(31): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
| GTF3C3_chr2_196758035_196804683 | 196758495 | TAAAAAAA others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0102a0001c0001t0002g0211 | 2 | 252 | 0.0079 | -14 | c.*60 others(25): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 4539 | chr2 | TogoVar | ||||||
| GTF3C3_chr2_196758035_196804683 | 196794155 | CCATGTGA others(7): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02148.hp2 HG02293.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(1): Show | 4 | 252 | 0.0159 | -14 | c.215 others(31): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 2/17 | chr2 | TogoVar | ||||||
| GTF3C5_chr9_133025997_133063503 | 133049846 | CCCCAGCC others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0036a0001c0002t0001g0149a0001c0002t0001g0150others(2): Show | 6 | 380 | 0.0158 | -14 | c.573 others(29): Show |
GTF3C5 | ENSG00000148308.18 | transcript | ENST00000372097.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GTF3C6_chr6_110953706_110972872 | 110972322 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 346 | 0.0058 | -14 | c.*45 others(25): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 4451 | chr6 | TogoVar | ||||||
| GTPBP1_chr22_38700944_38738587 | 38731010 | TTGTGTGT others(7): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0050 | 2 | 382 | 0.0052 | -14 | c.*33 others(23): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 12/12 | 333 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
| GTPBP2_chr6_43615494_43634264 | 43619364 | CAAAAAAA others(7): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01106.hp1 HG01516.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0002t0001g0049a0001c0002t0002g0014others(7): Show | 21 | 382 | 0.0550 | -14 | c.*22 others(25): Show |
GTPBP2 | ENSG00000172432.19 | transcript | ENST00000307126.10 | protein_coding | 1129 | chr6 | TogoVar | ||||||
| GTPBP3_chr19_17332553_17347731 | 17343012 | AGTGTGTG others(7): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00741.hp1 others(16): Show |
a0000a0001a0003 | a0000c0007a0001c0001a0003c0003 | a0000c0007t0001a0001c0001t0001a0001c0001t0002others(1): Show | a0000c0007t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(5): Show | 19 | 408 | 0.0466 | -14 | c.*13 others(25): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 282 | chr19 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 318028 | GACCCTCT others(7): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 155 | 0.0129 | -14 | c.349 others(29): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 1/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 322064 | AAAGAAAG others(7): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp2 NA19077.hp1 |
a0002a0026 | a0002c0036a0026c0018 | a0002c0036t0001a0026c0018t0002 | a0002c0036t0001g0071a0026c0018t0002g0018 | 2 | 155 | 0.0129 | -14 | c.-32 others(25): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3269 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 323547 | CGTGTGTG others(7): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0017 | a0017c0028 | a0017c0028t0005 | a0017c0028t0005g0078 | 1 | 155 | 0.0065 | -14 | c.-47 others(25): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4752 | chrX | TogoVar | ||||||
| GTSF1_chr12_54450957_54478602 | 54476544 | TTGTGTGT others(7): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp1 HG01975.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0071 | 7 | 360 | 0.0194 | -14 | c.-30 others(25): Show |
GTSF1 | ENSG00000170627.11 | transcript | ENST00000305879.8 | protein_coding | 2943 | chr12 | TogoVar | ||||||
| GUCA1A_chr6_42168364_42185056 | 42181574 | TCTACCTG others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0013 | a0001c0001t0001g0016a0001c0001t0008g0037a0001c0001t0013g0061 | 6 | 412 | 0.0146 | -14 | c.*21 others(25): Show |
GUCA1A | ENSG00000048545.18 | transcript | ENST00000372958.2 | protein_coding | 1519 | chr6 | TogoVar | ||||||
| GUCA1B_chr6_42178284_42199956 | 42181574 | TCTACCTG others(7): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0009 | a0001c0001t0007g0015a0001c0002t0009g0166a0001c0002t0009g0167others(1): Show | 6 | 418 | 0.0144 | -14 | c.*32 others(25): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1709 | chr6 | TogoVar | ||||||
| GUCA1B_chr6_42178284_42199956 | 42188293 | CGTGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0114 | 1 | 418 | 0.0024 | -14 | c.357 others(29): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108922154 | TACACAAA others(7): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG01258.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009a0003c0003t0001g0070a0003c0003t0001g0071others(3): Show | 7 | 374 | 0.0187 | -14 | c.205 others(31): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108922160 | AACACACA others(7): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 374 | 0.0027 | -14 | c.205 others(31): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
| GUCA1C_chr3_108902792_108958879 | 108955590 | TAAAAAAA others(7): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01071.hp2 HG01981.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275a0002c0002t0001g0294a0002c0002t0001g0298others(2): Show | 5 | 374 | 0.0134 | -14 | c.-18 others(25): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | ||||||
| GUCY1A1_chr4_155661848_155742059 | 155721179 | ATTTGGGC others(7): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0004others(128): Show | 145 | 330 | 0.4394 | -14 | c.171 others(31): Show |
GUCY1A1 | ENSG00000164116.17 | transcript | ENST00000506455.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GUCY1A2_chr11_106669019_107023476 | 106725152 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0046 | 1 | 256 | 0.0039 | -14 | c.183 others(35): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106730059 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00673.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0109a0001c0001t0002g0110a0001c0001t0002g0111others(41): Show | 44 | 256 | 0.1719 | -14 | c.183 others(35): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106922662 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp2 HG01433.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0001g0141a0001c0001t0001g0150a0001c0001t0006g0149others(8): Show | 11 | 256 | 0.0430 | -14 | c.120 others(35): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | ||||||
| GUCY2D_chr17_7997615_8025342 | 8019991 | CTGGCAGA others(7): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0106 | 1 | 432 | 0.0023 | -14 | c.*25 others(29): Show |
GUCY2D | ENSG00000132518.7 | transcript | ENST00000254854.5 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GUCY2F_chrX_109367906_109487086 | 109476815 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG01256.hp1 HG01346.hp2 others(8): Show |
a0004a0010a0013 | a0004c0004a0010c0009a0013c0013 | a0004c0004t0001a0004c0004t0002a0010c0009t0001others(2): Show | a0004c0004t0001g0024a0004c0004t0001g0042a0004c0004t0001g0043others(7): Show | 11 | 217 | 0.0507 | -14 | c.-85 others(29): Show |
GUCY2F | ENSG00000101890.5 | transcript | ENST00000218006.3 | protein_coding | 1/19 | chrX | TogoVar | ||||||
| GULP1_chr2_188286874_188600926 | 188368939 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02109.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0060a0001c0001t0004g0061a0001c0001t0004g0062others(18): Show | 21 | 162 | 0.1296 | -14 | c.-17 others(35): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GULP1_chr2_188286874_188600926 | 188400923 | TTGTGTGT others(7): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0114 | 1 | 162 | 0.0062 | -14 | c.-45 others(33): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |