view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAGE2A_chrX_49584496_49601824 | 49590998 | AAAGTCCT others(42): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0052 | 1 | 129 | 0.0078 | -49 | c.82- others(62): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298573 | AATTGTAT others(42): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0113 | 1 | 174 | 0.0057 | -49 | c.976 others(66): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132231161 | GTGCCACA others(42): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02735.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0002a0001c0006a0001c0018others(2): Show | a0001c0002t0001a0001c0006t0001a0001c0018t0001others(2): Show | a0001c0002t0001g0068 a0001c0006t0001g0097 a0001c0006t0001g0098 others(3): Show |
6 | 175 | 0.0343 | -49 | c.107 others(70): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132231833 | GCCACACA others(42): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0006 | a0006c0024 | a0006c0024t0001 | a0006c0024t0001g0160 | 1 | 182 | 0.0055 | -49 | c.107 others(70): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132247115 | AGCAGAAG others(42): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0002t0001g0068 |
3 | 182 | 0.0165 | -49 | c.107 others(66): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GCGR_chr17_81799150_81819008 | 81805497 | CCCCATTG others(42): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 406 | 0.0025 | -49 | c.-17 others(68): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54880520 | TATATATA others(42): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015a0001c0001t0028 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 others(10): Show |
13 | 343 | 0.0379 | -49 | c.344 others(68): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCNT3_chr15_59606783_59627723 | 59610179 | CTGCCTGC others(42): Show |
C | upstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0002 | 1 | 426 | 0.0023 | -49 | c.-20 others(60): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 1603 | chr15 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5809337 | CCTTGAAG others(42): Show |
C | intron_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 396 | 0.0025 | -49 | c.45+ others(64): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
GINS3_chr16_58387471_58411147 | 58396675 | GACCTCCC others(42): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02970.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0003g0005 |
4 | 423 | 0.0095 | -49 | c.186 others(66): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58396720 | TCCCCACC others(42): Show |
T | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 431 | 0.0023 | -49 | c.186 others(66): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GINS3_chr16_58387471_58411147 | 58397006 | TGGGCGGG others(42): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 432 | 0.0023 | -49 | c.186 others(66): Show |
GINS3 | ENSG00000181938.14 | transcript | ENST00000318129.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GJA10_chr6_89889469_89901120 | 89898161 | TTTCCCTT others(42): Show |
T | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03486.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 324 | 0.0123 | -49 | c.*20 others(60): Show |
GJA10 | ENSG00000135355.4 | transcript | ENST00000369352.1 | protein_coding | 2042 | chr6 | TogoVar | |||||||
GKAP1_chr9_83734425_83822769 | 83804502 | CCGCCCCG others(42): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(138): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(127): Show |
141 | 334 | 0.4222 | -49 | c.216 others(66): Show |
GKAP1 | ENSG00000165113.13 | transcript | ENST00000376371.7 | protein_coding | 3/12 | chr9 | TogoVar | |||||||
GLP2R_chr17_9820924_9897099 | 9879254 | TATAAAAT others(42): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01981.hp1 HG02258.hp1 others(9): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0016 | a0001c0001t0001a0002c0002t0003a0010c0016t0001 | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0139 others(9): Show |
12 | 316 | 0.0380 | -49 | c.114 others(68): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9882986 | CAGGACAA others(42): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02148.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0204 |
2 | 378 | 0.0053 | -49 | c.128 others(68): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GLRA3_chr4_174631920_174834247 | 174692255 | CGCGAGGG others(42): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01243.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0020 a0001c0001t0003g0130 a0001c0001t0003g0169 others(20): Show |
23 | 284 | 0.0810 | -49 | c.575 others(66): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 5/9 | chr4 | TogoVar | |||||||
GLRA3_chr4_174631920_174834247 | 174787472 | ATTTCTCA others(42): Show |
A | intron_variant | MODIFIER | HG03041.hp2 NA19043.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0040a0001c0001t0087a0001c0003t0075 | a0001c0001t0040g0003 a0001c0001t0087g0212 a0001c0003t0075g0052 |
3 | 237 | 0.0127 | -49 | c.199 others(66): Show |
GLRA3 | ENSG00000145451.13 | transcript | ENST00000274093.8 | protein_coding | 2/9 | chr4 | TogoVar | |||||||
GLUD1_chr10_87045202_87099843 | 87081018 | TGGGGGGT others(42): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 330 | 0.0030 | -49 | c.446 others(66): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77761128 | CCCCGCCC others(42): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0002 | 1 | 280 | 0.0036 | -49 | c.736 others(68): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77761259 | GTCCGGGA others(42): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0229 | 1 | 280 | 0.0036 | -49 | c.736 others(68): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
GNAQ_chr9_77711097_78036811 | 77762405 | ACCCCATC others(42): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0032others(1): Show | a0001c0001t0001g0249 a0001c0001t0019g0274 a0001c0001t0019g0277 others(4): Show |
7 | 280 | 0.0250 | -49 | c.735 others(68): Show |
GNAQ | ENSG00000156052.11 | transcript | ENST00000286548.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
GOLGA1_chr9_124873275_124946083 | 124895365 | TCTCCACA others(42): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0045 | 1 | 372 | 0.0027 | -49 | c.140 others(68): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 15/22 | chr9 | TogoVar | |||||||
GOLGA1_chr9_124873275_124946083 | 124895900 | CAACAGAG others(42): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01123.hp1 HG01255.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0003 a0001c0001t0004g0026 a0001c0001t0004g0027 others(12): Show |
19 | 372 | 0.0511 | -49 | c.140 others(68): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 15/22 | chr9 | TogoVar | |||||||
GOLGA6D_chr15_75277835_75300530 | 75299902 | TATACGTA others(42): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01071.hp1 others(6): Show |
a0004 | a0004c0005a0004c0012 | a0004c0005t0003a0004c0005t0011a0004c0005t0016others(1): Show | a0004c0005t0003g0042 a0004c0005t0003g0043 a0004c0005t0003g0045 others(6): Show |
9 | 232 | 0.0388 | -49 | c.*54 others(60): Show |
GOLGA6D | ENSG00000140478.17 | transcript | ENST00000434739.4 | protein_coding | 4373 | chr15 | TogoVar | |||||||
GOLPH3_chr5_32119716_32179319 | 32142565 | TCTGCCCG others(42): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(37): Show |
45 | 378 | 0.1190 | -49 | c.357 others(66): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
GPAT4_chr8_41573200_41630001 | 41626312 | TGGACGGG others(42): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 408 | 0.0025 | -49 | c.*53 others(60): Show |
GPAT4 | ENSG00000158669.11 | transcript | ENST00000396987.7 | protein_coding | 1312 | chr8 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217523833 | TGGCTGGC others(42): Show |
T | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0166 | 1 | 186 | 0.0054 | -49 | c.109 others(68): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPATCH2_chr1_217421992_217636090 | 217523885 | CTGGCCGG others(42): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0021 others(36): Show |
39 | 186 | 0.2097 | -49 | c.109 others(68): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | |||||||
GPD1L_chr3_32101620_32173709 | 32121575 | CTATATAT others(42): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0016a0001c0002t0001others(7): Show | a0001c0001t0011g0058 a0001c0001t0016g0297 a0001c0001t0016g0302 others(21): Show |
27 | 316 | 0.0854 | -49 | c.48- others(64): Show |
GPD1L | ENSG00000152642.11 | transcript | ENST00000282541.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GPD2_chr2_156431379_156591403 | 156451473 | CCCCCCCA others(42): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG01975.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0002c0002t0002a0002c0002t0009 | a0001c0001t0016g0049 a0002c0002t0002g0079 a0002c0002t0009g0137 |
3 | 252 | 0.0119 | -49 | c.-9+ others(66): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPD2_chr2_156431379_156591403 | 156451717 | GGACGGGG others(42): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0148 | 1 | 252 | 0.0040 | -49 | c.-9+ others(66): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPD2_chr2_156431379_156591403 | 156490927 | GTAAAATT others(42): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(73): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0187 a0001c0001t0001g0188 others(73): Show |
76 | 252 | 0.3016 | -49 | c.103 others(66): Show |
GPD2 | ENSG00000115159.17 | transcript | ENST00000438166.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR176_chr15_39794008_39925266 | 39894255 | TGGGGGCT others(42): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00642.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0056 others(44): Show |
47 | 270 | 0.1741 | -49 | c.172 others(68): Show |
GPR176 | ENSG00000166073.12 | transcript | ENST00000561100.2 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
GPR39_chr2_132411805_132651582 | 132427102 | CATATATA others(42): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(40): Show |
a0002a0004a0009 | a0002c0002a0004c0005a0009c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0028 others(40): Show |
43 | 208 | 0.2067 | -49 | c.856 others(66): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR89B_chr1_147923420_147998592 | 147949980 | CCCCCACC others(42): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 272 | 0.0037 | -49 | c.416 others(66): Show |
GPR89B | ENSG00000188092.15 | transcript | ENST00000314163.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GPRC5D_chr12_12935575_12957170 | 12944751 | TCCTTCCT others(42): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 404 | 0.0025 | -49 | c.896 others(66): Show |
GPRC5D | ENSG00000111291.9 | transcript | ENST00000228887.6 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
GPSM2_chr1_108871985_108939545 | 108873400 | ATATATAT others(42): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0049 | 1 | 256 | 0.0039 | -49 | c.-40 others(60): Show |
GPSM2 | ENSG00000121957.15 | transcript | ENST00000264126.9 | protein_coding | 3584 | chr1 | TogoVar | |||||||
GRAMD1B_chr11_123425269_123632767 | 123488646 | CGGCCCTG others(42): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG03491.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0016 | a0001c0001t0003g0150 a0001c0001t0004g0116 a0001c0001t0016g0055 |
3 | 279 | 0.0108 | -49 | c.452 others(66): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRAMD1C_chr3_113833788_113952174 | 113849916 | GGGGGGGC others(42): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0247 | 1 | 320 | 0.0031 | -49 | c.174 others(66): Show |
GRAMD1C | ENSG00000178075.20 | transcript | ENST00000358160.9 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46631422 | AGCCTGTG others(42): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0126 a0001c0001t0001g0239 a0001c0001t0001g0241 others(10): Show |
13 | 136 | 0.0956 | -49 | c.162 others(66): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GREB1_chr2_11529045_11647788 | 11538755 | CCTTTCTT others(42): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0007 | a0002c0007t0052 | a0002c0007t0052g0075 | 1 | 306 | 0.0033 | -49 | c.-16 others(68): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 143991384 | TGGGGGGT others(42): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0078 | 1 | 122 | 0.0082 | -49 | c.875 others(68): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 143991713 | TCGCCCCG others(42): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0063 | 1 | 122 | 0.0082 | -49 | c.875 others(68): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
GTF2A1L_chr2_48612856_48684604 | 48614577 | ACCTCCCG others(42): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 |
3 | 342 | 0.0088 | -49 | c.-32 others(60): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 3278 | chr2 | TogoVar | |||||||
GUSB_chr7_65955684_65987213 | 65985596 | TGGCCTCC others(42): Show |
T | upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 416 | 0.0024 | -49 | c.-34 others(60): Show |
GUSB | ENSG00000169919.17 | transcript | ENST00000304895.9 | protein_coding | 3384 | chr7 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48332597 | CCCCCCCC others(42): Show |
C | downstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | -49 | c.*25 others(60): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2319 | chr12 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48332687 | GGGGGGCC others(42): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02630.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
10 | 422 | 0.0237 | -49 | c.*26 others(60): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2409 | chr12 | TogoVar | |||||||
H1-7_chr12_48323980_48335279 | 48333084 | GGGCGGGG others(42): Show |
G | downstream_gene_variant | MODIFIER | HG03453.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 422 | 0.0047 | -49 | c.*30 others(60): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2806 | chr12 | TogoVar | |||||||
H2AB2_chrX_155375709_155386299 | 155377219 | TGGTTCAA others(42): Show |
T | upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 229 | 0.0044 | -49 | c.-35 others(60): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 3489 | chrX | TogoVar |