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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRB1_chr4_47026567_47431447 | 47184150 | CATTTCTG others(7): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 158 | 0.0063 | -14 | c.461 others(33): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47246337 | CATATATA others(7): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG04199.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0002t0002a0001c0003t0011 | a0001c0001t0009g0053a0001c0002t0002g0109a0001c0003t0011g0052 | 3 | 158 | 0.0190 | -14 | c.462 others(33): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47333190 | TTATTTAT others(7): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071 | 1 | 158 | 0.0063 | -14 | c.544 others(33): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47333223 | TATATATA others(7): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0047a0001c0001t0001g0075a0001c0001t0001g0076others(13): Show | 16 | 158 | 0.1013 | -14 | c.544 others(33): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47350183 | TTATATAT others(7): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 158 | 0.0063 | -14 | c.544 others(33): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47404489 | GCACACAC others(7): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01255.hp1 HG01256.hp2 others(33): Show |
a0001 | a0001c0002a0001c0005a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0003a0001c0002t0001g0034a0001c0002t0001g0036others(33): Show | 36 | 158 | 0.2279 | -14 | c.835 others(29): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161308045 | TAGAGATG others(7): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0262a0001c0001t0017g0264 | 2 | 266 | 0.0075 | -14 | c.119 others(35): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161385945 | CTGGTGTG others(7): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0006g0007a0001c0001t0008g0021a0001c0001t0008g0126others(7): Show | 10 | 266 | 0.0376 | -14 | c.541 others(33): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161385947 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01496.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0011a0001c0002t0012 | a0001c0001t0004g0052a0001c0002t0011g0247a0001c0002t0012g0078others(1): Show | 4 | 266 | 0.0150 | -14 | c.541 others(33): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161393299 | TAAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0131a0001c0001t0003g0017others(10): Show | 13 | 266 | 0.0489 | -14 | c.541 others(33): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161436502 | CAGCCTGG others(7): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0260a0001c0001t0002g0135a0001c0001t0002g0159others(57): Show | 60 | 266 | 0.2256 | -14 | c.458 others(33): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161463549 | TTTTATTT others(7): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0187a0001c0001t0001g0204others(3): Show | 6 | 266 | 0.0226 | -14 | c.238 others(31): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26609089 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0032a0001c0003t0020a0001c0005t0016 | a0001c0001t0032g0022a0001c0003t0020g0003a0001c0005t0016g0193 | 3 | 204 | 0.0147 | -14 | c.461 others(33): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26617404 | AGAAAAAA others(7): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0204 | 1 | 204 | 0.0049 | -14 | c.461 others(31): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26741042 | ATAAGTGT others(7): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0065a0001c0001t0001g0162a0001c0001t0001g0164others(8): Show | 11 | 204 | 0.0539 | -14 | c.240 others(33): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26747952 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 204 | 0.0049 | -14 | c.240 others(33): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764177 | AAAATATA others(7): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0045 | 1 | 204 | 0.0049 | -14 | c.240 others(31): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRE_chrX_151948124_151979676 | 151971853 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01074.hp1 others(22): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0109a0001c0001t0001g0203others(21): Show | 25 | 326 | 0.0767 | -14 | c.57- others(29): Show |
GABRE | ENSG00000102287.19 | transcript | ENST00000370328.4 | protein_coding | 1/8 | chrX | TogoVar | ||||||
GABRE_chrX_151948124_151979676 | 151971867 | CTGTGTGT others(7): Show |
C | intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0133 | 1 | 326 | 0.0031 | -14 | c.57- others(29): Show |
GABRE | ENSG00000102287.19 | transcript | ENST00000370328.4 | protein_coding | 1/8 | chrX | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46056146 | TAAATTAA others(7): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 308 | 0.0033 | -14 | c.916 others(31): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46056150 | TTAAAAAA others(7): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0001g0295others(2): Show | 5 | 308 | 0.0162 | -14 | c.916 others(31): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27261887 | CTGTTATT others(7): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG03453.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0032a0001c0004t0011others(5): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0003t0032g0040others(6): Show | 9 | 92 | 0.0978 | -14 | c.271 others(33): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27285254 | GGTGTGTG others(7): Show |
G | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 92 | 0.0109 | -14 | c.271 others(33): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27313254 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0028a0001c0016t0001 | a0001c0001t0028g0054a0001c0016t0001g0074 | 2 | 92 | 0.0217 | -14 | c.271 others(33): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27313256 | GTGTGTGT others(7): Show |
G | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0062 | 1 | 92 | 0.0109 | -14 | c.271 others(33): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27365298 | GACACAGA others(7): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0028a0001c0003t0022a0001c0004t0011others(1): Show | a0001c0001t0028g0054a0001c0003t0022g0058a0001c0004t0011g0060others(1): Show | 4 | 92 | 0.0435 | -14 | c.574 others(33): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRP_chr5_170778725_170819047 | 170803500 | ATATACGA others(7): Show |
A | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0150 | 1 | 362 | 0.0028 | -14 | c.542 others(31): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/9 | chr5 | TogoVar | ||||||
GABRP_chr5_170778725_170819047 | 170804987 | TTATATTA others(7): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp1 others(52): Show |
a0001a0004a0011 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0043a0001c0001t0001g0095others(32): Show | 55 | 362 | 0.1519 | -14 | c.542 others(29): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRR2_chr6_89249464_89320299 | 89267043 | AGGCTGGA others(7): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0133a0001c0001t0006g0330 | 2 | 366 | 0.0055 | -14 | c.736 others(29): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 6/8 | chr6 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89280211 | AATATATA others(7): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG01884.hp2 HG02451.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0002g0013a0001c0001t0002g0289a0001c0001t0002g0311others(7): Show | 10 | 366 | 0.0273 | -14 | c.221 others(31): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
GABRR3_chr3_97980102_98040315 | 97982714 | GGTGTGTG others(7): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02622.hp1 HG02647.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0007a0002c0002t0007 | a0001c0001t0001g0356a0001c0001t0007g0180a0002c0002t0007g0035 | 3 | 382 | 0.0079 | -14 | c.*39 others(25): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 2387 | chr3 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170824378 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01975.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0063a0001c0001t0001g0172a0001c0001t0001g0211others(9): Show | 12 | 412 | 0.0291 | -14 | c.145 others(31): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAD1_chr2_170811887_170866151 | 170828222 | CTCCTCTT others(7): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(60): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0178a0001c0001t0002g0024a0001c0001t0002g0040others(58): Show | 63 | 412 | 0.1529 | -14 | c.146 others(31): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAD2_chr10_26211774_26309558 | 26237998 | TCACACAG others(7): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp1 HG03139.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0019others(3): Show | a0001c0001t0008g0270a0001c0001t0008g0272a0001c0001t0011g0110others(4): Show | 7 | 294 | 0.0238 | -14 | c.841 others(31): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GADL1_chr3_30721197_30899661 | 30800806 | GACACACA others(7): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG02056.hp2 HG02074.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0251others(16): Show | 19 | 282 | 0.0674 | -14 | c.125 others(29): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 12/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30800840 | CACACACA others(7): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 | 1 | 282 | 0.0036 | -14 | c.125 others(29): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 12/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30816530 | CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG03491.hp2 NA18984.hp2 others(1): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0036a0008c0011t0003 | a0001c0001t0001g0043a0001c0001t0001g0155a0001c0001t0036g0100others(1): Show | 4 | 282 | 0.0142 | -14 | c.105 others(35): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
GAGE10_chrX_49298646_49324841 | 49300477 | GTTTTTTT others(7): Show |
G | upstream_gene_variant | MODIFIER | HG03669.hp2 HG03834.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0042 | 3 | 302 | 0.0099 | -14 | c.-32 others(25): Show |
GAGE10 | ENSG00000215274.6 | transcript | ENST00000407599.4 | protein_coding | 3168 | chrX | TogoVar | ||||||
GAGE12D_chrX_49536733_49554094 | 49553167 | TGTGTGTG others(7): Show |
T | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0001 | 1 | 72 | 0.0139 | -14 | c.*41 others(25): Show |
GAGE12D | ENSG00000227488.3 | transcript | ENST00000405679.4 | protein_coding | 4074 | chrX | TogoVar | ||||||
GAGE12G_chrX_49565400_49582754 | 49581827 | TGTGTGTG others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 NA18956.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0013 | 2 | 95 | 0.0211 | -14 | c.*41 others(25): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 4074 | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49575368 | GCTTACAG others(7): Show |
G | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0018 | 1 | 116 | 0.0086 | -14 | c.-46 others(25): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4580 | chrX | TogoVar | ||||||
GAGE12J_chrX_49317037_49334384 | 49333461 | TGTGTGTG others(7): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp2 NA18942.hp1 NA18977.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0002 | a0001c0001t0002g0002a0001c0001t0002g0048a0005c0005t0002g0011others(1): Show | 5 | 194 | 0.0258 | -14 | c.*41 others(25): Show |
GAGE12J | ENSG00000224659.3 | transcript | ENST00000442437.3 | protein_coding | 4078 | chrX | TogoVar | ||||||
GAGE13_chrX_49326582_49343949 | 49333461 | TGTGTGTG others(7): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG03927.hp1 NA18977.hp1 |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0004 | a0003c0003t0003g0008a0003c0003t0004g0033 | 3 | 93 | 0.0323 | -14 | c.205 others(27): Show |
GAGE13 | ENSG00000274274.2 | transcript | ENST00000612958.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE13_chrX_49326582_49343949 | 49335161 | ATACGGAT others(7): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01167.hp1 others(26): Show |
a0002a0004a0007 | a0002c0002a0004c0004a0007c0007 | a0002c0002t0001a0002c0002t0006a0004c0004t0001others(1): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0012others(18): Show | 29 | 93 | 0.3118 | -14 | c.206 others(31): Show |
GAGE13 | ENSG00000274274.2 | transcript | ENST00000612958.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAL3ST1_chr22_30549635_30579665 | 30563120 | ATAAATAA others(7): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0204 | 1 | 452 | 0.0022 | -14 | c.-11 others(33): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241779214 | ATTTTTTT others(7): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 314 | 0.0032 | -14 | c.29+ others(29): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241808055 | CCTCTTAG others(7): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02486.hp1 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0070a0001c0001t0002g0172a0002c0002t0002g0004others(2): Show | 5 | 314 | 0.0159 | -14 | c.*38 others(25): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3769 | chr2 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87962578 | TACACACA others(7): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0002 | a0001c0001t0001g0236a0001c0001t0001g0237a0001c0001t0001g0240others(4): Show | 7 | 370 | 0.0189 | -14 | c.116 others(31): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 10/16 | chr14 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87997375 | CTTTTTTT others(7): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01943.hp1 others(1): Show |
a0001a0002a0014 | a0001c0027a0002c0002a0014c0024 | a0001c0027t0001a0002c0002t0002a0014c0024t0002 | a0001c0027t0001g0173a0002c0002t0002g0168a0002c0002t0002g0176others(1): Show | 4 | 370 | 0.0108 | -14 | c.-42 others(25): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 4194 | chr14 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49192485 | GTATATAT others(7): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0026a0001c0002t0051 | a0001c0002t0019g0132a0001c0002t0026g0210a0001c0002t0051g0169 | 3 | 348 | 0.0086 | -14 | c.54- others(29): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |