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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRA3_chrX_152161234_152456315 | 152360516 | G | GAAGGGGA | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0077 | 1 | 204 | 0.0049 | 7 | c.140 others(24): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GABRA5_chr15_26862062_26954208 | 26890426 | A | ATTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02451.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0067others(8): Show | 11 | 376 | 0.0293 | 7 | c.497 others(24): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47123705 | A | AATATGGT | intron_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0001t0008a0001c0003t0002others(2): Show | a0001c0001t0004g0150a0001c0001t0008g0147a0001c0003t0002g0148others(2): Show | 5 | 158 | 0.0317 | 7 | c.241 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47123717 | G | GATATATC | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0029a0001c0001t0001g0038a0001c0001t0001g0067others(43): Show | 46 | 158 | 0.2911 | 7 | c.241 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47123724 | G | GATATATC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(99): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(99): Show | 102 | 158 | 0.6456 | 7 | c.241 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47354983 | T | TTTTTTTG | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01261.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0029a0001c0001t0001g0045others(7): Show | 10 | 158 | 0.0633 | 7 | c.544 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161289232 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00738.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0045a0001c0001t0049 | a0001c0001t0006g0007a0001c0001t0006g0016a0001c0001t0006g0123others(9): Show | 12 | 266 | 0.0451 | 7 | c.*48 others(18): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 10/10 | 4848 | chr5 | TogoVar | |||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATATATAT | intron_variant | MODIFIER | HG01433.hp1 HG02155.hp2 HG02293.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0007 | a0001c0001t0003g0144a0001c0001t0004g0033a0001c0001t0004g0047others(3): Show | 6 | 204 | 0.0294 | 7 | c.108 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26586704 | A | AAAAAAAG | intron_variant | MODIFIER | HG01099.hp2 HG01257.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0122a0001c0001t0004g0165a0001c0001t0014g0199others(2): Show | 5 | 204 | 0.0245 | 7 | c.462 others(24): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26635010 | A | ATATATAT | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01993.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0048a0001c0001t0001g0109a0001c0001t0001g0110others(21): Show | 24 | 204 | 0.1177 | 7 | c.241 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26690106 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01975.hp1 HG03688.hp1 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0025 | a0001c0001t0001g0005a0001c0001t0001g0159a0001c0001t0001g0162others(4): Show | 7 | 204 | 0.0343 | 7 | c.241 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26692328 | C | CAGGAGGA | intron_variant | MODIFIER | HG01099.hp1 HG02293.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0061a0001c0001t0001g0179 | 3 | 204 | 0.0147 | 7 | c.241 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46088805 | T | TGTGTGTG | intron_variant | MODIFIER | HG02293.hp2 HG02602.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0094a0001c0002t0002g0266a0001c0002t0003g0233 | 3 | 308 | 0.0097 | 7 | c.254 others(24): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27002760 | A | AAAAAAAG | intron_variant | MODIFIER | HG01071.hp1 HG01433.hp1 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0005others(1): Show | a0001c0001t0001g0036a0001c0001t0001g0043a0001c0001t0001g0090others(5): Show | 8 | 92 | 0.0870 | 7 | c.203 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27149412 | C | CAAATTGA | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp2 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0002a0001c0009t0002 | a0001c0005t0002g0067a0001c0009t0002g0089 | 2 | 92 | 0.0217 | 7 | c.270 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27306962 | T | TATACATA | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0009a0001c0011 | a0001c0003t0001a0001c0009t0002a0001c0011t0018 | a0001c0003t0001g0066a0001c0009t0002g0089a0001c0011t0018g0004 | 3 | 92 | 0.0326 | 7 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27306974 | T | TGTTTATA | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp1 NA18906.hp2 |
a0001 | a0001c0003a0001c0009a0001c0011 | a0001c0003t0001a0001c0009t0002a0001c0011t0018 | a0001c0003t0001g0066a0001c0009t0002g0089a0001c0011t0018g0004 | 3 | 92 | 0.0326 | 7 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307019 | T | TATACATA | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 HG03540.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0004t0002a0001c0004t0030 | a0001c0002t0006g0052a0001c0004t0002g0061a0001c0004t0030g0063 | 3 | 92 | 0.0326 | 7 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307032 | G | GTTTATAT | intron_variant | MODIFIER | HG02109.hp1 HG03209.hp2 HG03540.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0004t0002a0001c0004t0030 | a0001c0002t0006g0052a0001c0004t0002g0061a0001c0004t0030g0063 | 3 | 92 | 0.0326 | 7 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307199 | A | ACCATAGG | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0006a0001c0004t0002others(1): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0002t0006g0052others(2): Show | 5 | 92 | 0.0544 | 7 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27348155 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(20): Show | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0038others(29): Show | 32 | 92 | 0.3478 | 7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27369806 | C | CAAAAAAA | intron_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0009a0001c0002t0035others(3): Show | a0001c0001t0001g0005a0001c0002t0009g0022a0001c0002t0035g0019others(3): Show | 6 | 92 | 0.0652 | 7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27388096 | A | AGGAAAGG | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 NA19240.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0002a0001c0005t0005 | a0001c0004t0002g0061a0001c0005t0002g0067a0001c0005t0005g0045 | 3 | 92 | 0.0326 | 7 | c.574 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170817225 | A | ACCCCCCC | intron_variant | MODIFIER | HG01081.hp2 HG01361.hp1 HG02074.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0038a0001c0001t0002g0039a0001c0001t0002g0040others(14): Show | 17 | 412 | 0.0413 | 7 | c.-64 others(22): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GADD45GIP1_chr19_12948119_12962223 | 12961691 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00735.hp2 others(56): Show |
a0001a0011 | a0001c0001a0011c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(7): Show | 59 | 372 | 0.1586 | 7 | c.-44 others(18): Show |
GADD45GIP1 | ENSG00000179271.3 | transcript | ENST00000316939.3 | protein_coding | 4469 | chr19 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30759018 | A | ACATAAGC | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(96): Show |
a0001a0004a0005 | a0001c0001a0001c0010a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0034others(96): Show | 99 | 282 | 0.3511 | 7 | c.139 others(28): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30764221 | C | CTTAATAG | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(101): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0034others(101): Show | 104 | 282 | 0.3688 | 7 | c.139 others(28): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30889084 | T | TAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02148.hp1 HG02155.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0027a0001c0001t0001g0048a0001c0001t0001g0050others(11): Show | 14 | 282 | 0.0497 | 7 | c.37+ others(22): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GAGE12F_chrX_49555842_49573205 | 49558128 | A | ATATAATC | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0031 | 1 | 99 | 0.0101 | 7 | c.-28 others(18): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 2713 | chrX | TogoVar | ||||||
GAGE12G_chrX_49565400_49582754 | 49572292 | C | CGTGTGTT | intron_variant | MODIFIER | NA19082.hp1 | a0008 | a0008c0008 | a0008c0008t0012 | a0008c0008t0012g0076 | 1 | 95 | 0.0105 | 7 | c.205 others(20): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12G_chrX_49565400_49582754 | 49576448 | T | TTCTTTTA | intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 95 | 0.0105 | 7 | c.332 others(24): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12H_chrX_49574949_49592301 | 49576448 | T | TTCTTTTA | upstream_gene_variant | MODIFIER | HG02109.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0003g0079 | 2 | 116 | 0.0172 | 7 | c.-36 others(18): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 3500 | chrX | TogoVar | ||||||
GAGE1_chrX_49594020_49613538 | 49595518 | T | TTCTTTTA | upstream_gene_variant | MODIFIER | HG02451.hp2 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0001a0001c0001t0007g0001 | 2 | 311 | 0.0064 | 7 | c.-36 others(18): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3501 | chrX | TogoVar | ||||||
GAK_chr4_844277_937316 | 869633 | A | ACACACAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(214): Show |
a0001a0003a0005others(14): Show | a0001c0001a0001c0004a0001c0008others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(32): Show | a0001c0001t0001g0008a0001c0001t0001g0013a0001c0001t0001g0017others(212): Show | 217 | 390 | 0.5564 | 7 | c.224 others(24): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 19/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 895015 | A | AAATAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(26): Show |
a0001a0002a0016 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0032others(26): Show | 29 | 390 | 0.0744 | 7 | c.742 others(24): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49220058 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01358.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0148a0001c0002t0003g0139a0001c0002t0003g0140others(3): Show | 6 | 348 | 0.0172 | 7 | c.266 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228688 | T | TATATATA | intron_variant | MODIFIER | HG00558.hp1 NA19010.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007a0001c0001t0006g0012a0001c0001t0006g0014 | 3 | 348 | 0.0086 | 7 | c.267 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49232794 | C | CAAAAATG | intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02258.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0010a0002c0004t0010 | a0001c0001t0010g0035a0001c0001t0010g0036a0001c0001t0010g0204others(5): Show | 8 | 348 | 0.0230 | 7 | c.267 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTC | intron_variant | MODIFIER | HG00140.hp1 HG01516.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0017 | a0001c0001t0002g0062a0001c0001t0005g0229a0001c0002t0017g0002others(1): Show | 5 | 348 | 0.0144 | 7 | c.967 others(24): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703093 | T | TATATATA | intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0104a0001c0001t0001g0119a0001c0001t0002g0103others(1): Show | 4 | 328 | 0.0122 | 7 | c.634 others(26): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154264334 | A | ATTTGGGG | intron_variant | MODIFIER | NA18961.hp1 NA18974.hp2 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0171a0001c0001t0003g0181a0001c0001t0003g0198 | 3 | 236 | 0.0127 | 7 | c.160 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154329961 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0147others(19): Show | 22 | 236 | 0.0932 | 7 | c.568 others(22): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154393066 | A | AAAAACAC | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01168.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0044a0001c0001t0001g0188a0001c0001t0001g0230others(26): Show | 29 | 236 | 0.1229 | 7 | c.105 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152058983 | C | CATCTGTG | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG01891.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0037a0001c0001t0003g0005a0001c0001t0003g0014others(22): Show | 25 | 284 | 0.0880 | 7 | c.-39 others(26): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152123688 | A | AAAAAAAC | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0021a0001c0001t0003g0022others(4): Show | 8 | 284 | 0.0282 | 7 | c.*20 others(18): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1349 | chr7 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT | intron_variant | MODIFIER | HG02559.hp2 HG02965.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0044a0001c0001t0048others(2): Show | a0001c0001t0012g0154a0001c0001t0044g0156a0001c0001t0048g0160others(2): Show | 5 | 214 | 0.0234 | 7 | c.142 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154225133 | T | TAGATGAC | intron_variant | MODIFIER | HG02080.hp1 HG02896.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0054 | a0001c0001t0001g0027a0001c0001t0014g0138a0001c0001t0054g0031 | 3 | 214 | 0.0140 | 7 | c.312 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154225149 | A | AGATAGAT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01069.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(9): Show | a0001c0001t0003g0018a0001c0001t0004g0183a0001c0001t0012g0179others(13): Show | 16 | 214 | 0.0748 | 7 | c.312 others(26): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154298792 | T | TAAATATA | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00642.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0047a0001c0001t0001g0062a0001c0001t0001g0063others(33): Show | 36 | 214 | 0.1682 | 7 | c.976 others(24): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154351682 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0063a0001c0001t0002g0131a0001c0001t0002g0132others(2): Show | 5 | 214 | 0.0234 | 7 | c.115 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |