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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GOLGA6L2_chr15_23434038_23452243 | 23439857 | GCATCTCC others(11): Show |
G | disruptive_inframe_deletion | MODERATE | NA18939.hp1 | a0001 | a0001c0059 | a0001c0059t0001 | a0001c0059t0001g0075 | 1 | 396 | 0.0025 | -18 | c.260 others(27): Show |
p.Val others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2679/3499 | 2600/2730 | 867/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23441436 | CCTGCTCC others(11): Show |
C | conservative_inframe_deletion | MODERATE | HG01109.hp1 | a0015 | a0015c0073 | a0015c0073t0001 | a0015c0073t0001g0104 | 1 | 396 | 0.0025 | -18 | c.102 others(27): Show |
p.Lys others(13): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 1100/3499 | 1021/2730 | 341/909 | chr15 | TogoVar | ||
GOLGA6L4_chr15_84230773_84250358 | 84239551 | ATCTCCAT others(11): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0006 | a0006c0008 | a0006c0008t0008 | a0006c0008t0008g0049 | 1 | 251 | 0.0040 | -18 | c.433 others(33): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLGA6L4_chr15_84230773_84250358 | 84240457 | AGGAGAGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -18 | c.111 others(27): Show |
p.Arg others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1181/4553 | 1119/1725 | 373/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240659 | TCTGCAGG others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG03927.hp1 | a0053 | a0053c0068 | a0053c0068t0001 | a0053c0068t0001g0069 | 1 | 251 | 0.0040 | -18 | c.131 others(27): Show |
p.Gln others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1372/4553 | 1310/1725 | 437/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84240664 | AGGAGCTG others(11): Show |
A | conservative_inframe_deletion | MODERATE | HG00558.hp1 HG00621.hp2 NA18952.hp1 others(3): Show |
a0011a0039 | a0011c0011a0011c0047a0039c0055 | a0011c0011t0001a0011c0047t0029a0039c0055t0001 | a0011c0011t0001g0016a0011c0011t0001g0100a0011c0047t0029g0079others(1): Show | 6 | 251 | 0.0239 | -18 | c.134 others(27): Show |
p.Leu others(13): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 6/9 | 1404/4553 | 1342/1725 | 448/574 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
GOLGA6L4_chr15_84230773_84250358 | 84249461 | CTGTGTGT others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0009 | 1 | 251 | 0.0040 | -18 | c.*68 others(29): Show |
GOLGA6L4 | ENSG00000184206.13 | transcript | ENST00000510439.7 | protein_coding | 4104 | chr15 | TogoVar | ||||||
GOLGA6L6_chr15_20526856_20546800 | 20541599 | AGGATGGG others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00558.hp2 HG00733.hp1 HG00735.hp1 others(34): Show |
a0004a0006a0007others(6): Show | a0004c0004a0006c0011a0006c0016others(7): Show | a0004c0004t0003a0006c0011t0001a0006c0011t0004others(9): Show | a0004c0004t0003g0004a0004c0004t0003g0027a0004c0004t0003g0111others(19): Show | 37 | 214 | 0.1729 | -18 | c.93_ others(24): Show |
p.His others(11): Show |
GOLGA6L6 | ENSG00000277322.1 | transcript | ENST00000619213.1 | protein_coding | 1/9 | 201/4013 | 93/2175 | 31/724 | chr15 | TogoVar | ||
GOLGA6L7_chr15_28836832_28853644 | 28843359 | TCTCCTGA others(11): Show |
T | conservative_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(417): Show |
a0001a0002a0003others(49): Show | a0001c0001a0002c0002a0003c0003others(53): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(70): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(144): Show | 420 | 422 | 0.9953 | -18 | c.727 others(25): Show |
p.Glu others(13): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 9/9 | 839/2367 | 727/1869 | 243/622 | chr15 | TogoVar | ||
GOLGA8A_chr15_34374068_34442808 | 34375563 | GAGATATA others(11): Show |
G | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0017 | a0017c0023 | a0017c0023t0111 | a0017c0023t0111g0211 | 1 | 245 | 0.0041 | -18 | c.*58 others(29): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 3504 | chr15 | TogoVar | ||||||
GOLGA8A_chr15_34374068_34442808 | 34409053 | TCCCCTCC others(11): Show |
T | intron_variant | MODIFIER | HG03209.hp2 NA20129.hp2 |
a0017 | a0017c0023 | a0017c0023t0111a0017c0023t0123 | a0017c0023t0111g0211a0017c0023t0123g0237 | 2 | 245 | 0.0082 | -18 | c.-11 others(39): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 2/24 | chr15 | TogoVar | ||||||
GOLGA8A_chr15_34374068_34442808 | 34442342 | GTGTGTGT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp2 NA19004.hp2 NA19007.hp1 |
a0004 | a0004c0004 | a0004c0004t0025a0004c0004t0037a0004c0004t0038 | a0004c0004t0025g0212a0004c0004t0037g0227a0004c0004t0038g0230 | 3 | 245 | 0.0122 | -18 | c.-61 others(29): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 4535 | chr15 | TogoVar | ||||||
GOLGA8A_chr15_34374068_34442808 | 34442346 | GTGTATAT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01192.hp2 HG04228.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0056a0001c0001t0060others(1): Show | a0001c0001t0052g0018a0001c0001t0056g0025a0001c0001t0060g0036others(1): Show | 4 | 245 | 0.0163 | -18 | c.-61 others(29): Show |
GOLGA8A | ENSG00000175265.19 | transcript | ENST00000359187.5 | protein_coding | 4539 | chr15 | TogoVar | ||||||
GOLGA8B_chr15_34520095_34588651 | 34544053 | CACTTCCT others(11): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0084 | 1 | 198 | 0.0051 | -18 | c.-38 others(35): Show |
GOLGA8B | ENSG00000215252.12 | transcript | ENST00000683415.1 | protein_coding | 7/23 | chr15 | TogoVar | ||||||
GOLGA8S_chr15_23349748_23373341 | 23361154 | CTTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01496.hp1 HG02735.hp2 |
a0024a0041 | a0024c0024a0041c0046 | a0024c0024t0001a0041c0046t0001 | a0024c0024t0001g0182a0024c0024t0001g0183a0041c0046t0001g0177 | 3 | 430 | 0.0070 | -18 | c.914 others(31): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLIM4_chr3_168003689_168100924 | 168050822 | TATAATAA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(33): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0018a0001c0001t0001g0025others(32): Show | 36 | 228 | 0.1579 | -18 | c.188 others(35): Show |
GOLIM4 | ENSG00000173905.9 | transcript | ENST00000470487.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86060876 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | NA18955.hp1 NA19002.hp1 NA19054.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0302a0002c0002t0003g0261a0002c0002t0003g0268others(1): Show | 4 | 314 | 0.0127 | -18 | c.310 others(35): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | ||||||
GOLM1_chr9_86021146_86104558 | 86088420 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG02630.hp2 HG03098.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0255a0001c0001t0002g0108a0001c0001t0013g0109others(1): Show | 4 | 314 | 0.0127 | -18 | c.-21 others(35): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44369066 | ATTATATA others(11): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0150 | 1 | 150 | 0.0067 | -18 | c.803 others(37): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 6/9 | chr15 | TogoVar | ||||||
GOLM2_chr15_44283719_44420758 | 44369067 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0117 | 1 | 150 | 0.0067 | -18 | c.803 others(37): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GOLPH3_chr5_32119716_32179319 | 32155956 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02027.hp1 HG02109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0217a0001c0001t0001g0343others(4): Show | 8 | 380 | 0.0211 | -18 | c.226 others(37): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
GOLPH3_chr5_32119716_32179319 | 32158005 | ATAAATAA others(11): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0028others(3): Show | 7 | 380 | 0.0184 | -18 | c.226 others(37): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
GOLPH3_chr5_32119716_32179319 | 32158017 | ATAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0057 | 1 | 380 | 0.0026 | -18 | c.226 others(37): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
GOLPH3_chr5_32119716_32179319 | 32158109 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 380 | 0.0026 | -18 | c.226 others(37): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
GOLPH3_chr5_32119716_32179319 | 32158132 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020a0001c0001t0005g0021 | 2 | 380 | 0.0053 | -18 | c.226 others(37): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204195715 | TCACACAC others(11): Show |
T | downstream_gene_variant | MODIFIER | HG01192.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157a0001c0001t0001g0183 | 2 | 414 | 0.0048 | -18 | c.*27 others(29): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 2447 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204208381 | TATACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0040others(59): Show | 69 | 414 | 0.1667 | -18 | c.26- others(33): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204208458 | ACTTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0301a0001c0001t0002g0316 | 2 | 414 | 0.0048 | -18 | c.25+ others(33): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
GOLT1A_chr1_204193163_204218988 | 204215100 | TCCAGCCT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG03130.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0305a0001c0001t0001g0306a0001c0001t0001g0308others(7): Show | 10 | 414 | 0.0242 | -18 | c.-12 others(29): Show |
GOLT1A | ENSG00000174567.8 | transcript | ENST00000308302.4 | protein_coding | 1113 | chr1 | TogoVar | ||||||
GORAB_chr1_170527166_170558834 | 170547406 | GCTGCTGC others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0037a0001c0001t0002g0063a0001c0001t0002g0064others(15): Show | 26 | 356 | 0.0730 | -18 | c.662 others(35): Show |
GORAB | ENSG00000120370.14 | transcript | ENST00000367763.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GORASP2_chr2_170924253_170972130 | 170969838 | TTATATAT others(11): Show |
T | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0259 | 1 | 382 | 0.0026 | -18 | c.*37 others(29): Show |
GORASP2 | ENSG00000115806.13 | transcript | ENST00000234160.5 | protein_coding | 2709 | chr2 | TogoVar | ||||||
GOT1L1_chr8_37929281_37945124 | 37939427 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 434 | 0.0023 | -18 | c.115 others(33): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GOT1L1_chr8_37929281_37945124 | 37939429 | AAAATATA others(11): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp2 HG03540.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(1): Show | a0001c0001t0001g0039a0002c0002t0001g0040a0002c0006t0001g0041others(1): Show | 7 | 434 | 0.0161 | -18 | c.115 others(33): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GOT1L1_chr8_37929281_37945124 | 37939431 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0012others(7): Show | 67 | 434 | 0.1544 | -18 | c.115 others(33): Show |
GOT1L1 | ENSG00000169154.7 | transcript | ENST00000307599.5 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
GP1BB_chr22_19718539_19729771 | 19725474 | GCTGTGGA others(11): Show |
G | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -18 | c.*10 others(29): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 704 | chr22 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029358 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01106.hp2 HG01255.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0328a0002c0002t0001g0329a0002c0002t0001g0393 | 3 | 441 | 0.0068 | -18 | c.326 others(35): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029360 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01975.hp1 NA18981.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0273a0002c0002t0001g0276a0002c0002t0001g0316others(1): Show | 4 | 441 | 0.0091 | -18 | c.326 others(35): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029362 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 441 | 0.0023 | -18 | c.326 others(35): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GP6_chr19_55008705_55043264 | 55029370 | ATATATTT others(11): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0412 | 1 | 441 | 0.0023 | -18 | c.326 others(35): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
GPAA1_chr8_144077634_144091216 | 144089597 | TATATATA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -18 | c.*34 others(29): Show |
GPAA1 | ENSG00000197858.12 | transcript | ENST00000355091.9 | protein_coding | 3382 | chr8 | TogoVar | ||||||
GPALPP1_chr13_44984538_45035305 | 45024147 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG03239.hp1 NA18940.hp2 others(29): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0013others(3): Show | a0001c0001t0005g0002a0001c0001t0005g0005a0001c0001t0005g0079others(24): Show | 32 | 348 | 0.0920 | -18 | c.805 others(35): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPALPP1_chr13_44984538_45035305 | 45024262 | CTGTGTGT others(11): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 348 | 0.0029 | -18 | c.805 others(35): Show |
GPALPP1 | ENSG00000133114.18 | transcript | ENST00000379151.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GPAM_chr10_112144865_112188765 | 112185571 | GACACACA others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(170): Show |
a0001a0008a0009 | a0001c0001a0008c0011a0009c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(73): Show | 173 | 378 | 0.4577 | -18 | c.-20 others(29): Show |
GPAM | ENSG00000119927.14 | transcript | ENST00000348367.9 | protein_coding | 1807 | chr10 | TogoVar | ||||||
GPAT3_chr4_83531108_83610875 | 83574624 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG02293.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0104a0001c0001t0002g0189a0001c0001t0002g0190others(4): Show | 7 | 334 | 0.0210 | -18 | c.209 others(35): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GPAT3_chr4_83531108_83610875 | 83579017 | CCTTTCTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02717.hp1 HG02922.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0243a0001c0001t0002g0185a0001c0001t0002g0209others(7): Show | 10 | 334 | 0.0299 | -18 | c.209 others(35): Show |
GPAT3 | ENSG00000138678.11 | transcript | ENST00000264409.5 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
GPATCH2_chr1_217421992_217636090 | 217463641 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01515.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0003g0009a0001c0001t0003g0072 | 3 | 188 | 0.0160 | -18 | c.127 others(39): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44414117 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(124): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(10): Show | a0001c0001t0001g0078a0001c0002t0001g0002a0001c0002t0001g0156others(124): Show | 127 | 326 | 0.3896 | -18 | c.493 others(35): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44414139 | ATATGTGT others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02572.hp2 others(12): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0002t0002a0001c0013t0005 | a0001c0002t0001g0011a0001c0002t0001g0012a0001c0002t0001g0013others(12): Show | 15 | 326 | 0.0460 | -18 | c.493 others(35): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 6/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44426848 | ACTCTCTC others(11): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0324 | 1 | 326 | 0.0031 | -18 | c.349 others(35): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 5/7 | chr17 | TogoVar | ||||||
GPATCH8_chr17_44390281_44508406 | 44430370 | TCAATGTA others(11): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0317a0001c0002t0001g0318 | 2 | 326 | 0.0061 | -18 | c.348 others(35): Show |
GPATCH8 | ENSG00000186566.13 | transcript | ENST00000591680.6 | protein_coding | 5/7 | chr17 | TogoVar |