| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNT9_chr12_132191372_132334589 | 132241900 | G | GGCCCTCC others(38): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02165.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0035a0001c0002t0001g0025a0001c0002t0001g0069others(7): Show | 10 | 183 | 0.0546 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132241912 | A | ACCCATTA others(38): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132241969 | C | CACGCCAC others(38): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242018 | C | CCACACCC others(38): Show |
intron_variant | MODIFIER | HG02895.hp1 NA18953.hp1 |
a0001 | a0001c0004a0001c0035 | a0001c0004t0001a0001c0035t0009 | a0001c0004t0001g0121a0001c0035t0009g0140 | 2 | 183 | 0.0109 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242024 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014a0001c0019others(1): Show | a0001c0001t0001a0001c0014t0003a0001c0019t0003others(1): Show | a0001c0001t0001g0150a0001c0014t0003g0146a0001c0014t0003g0153others(2): Show | 5 | 183 | 0.0273 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242077 | C | CAGGGCCG others(38): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0067 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242182 | A | ACCCATTA others(38): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0021 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242198 | C | CCACACCC others(38): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242198 | C | CCACACCC others(38): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01978.hp1 HG02040.hp2 others(12): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0111a0001c0002t0001g0135a0001c0002t0001g0141others(12): Show | 15 | 183 | 0.0820 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242243 | C | CCACACAC others(38): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0021 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242249 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | HG01346.hp2 NA18980.hp1 NA19080.hp2 |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0001a0001c0012t0002 | a0001c0002t0001g0070a0001c0003t0001g0103a0001c0012t0002g0179 | 3 | 183 | 0.0164 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242249 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242257 | C | CGGGGCCC others(38): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242287 | A | ACCACACA others(38): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02109.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001a0001c0014a0001c0019others(1): Show | a0001c0001t0001a0001c0014t0003a0001c0019t0003others(1): Show | a0001c0001t0001g0150a0001c0014t0003g0146a0001c0014t0003g0153others(2): Show | 5 | 183 | 0.0273 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242337 | A | ACCCCCTT others(38): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242339 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19067.hp1 |
a0001 | a0001c0013a0001c0034 | a0001c0013t0004a0001c0034t0004 | a0001c0013t0004g0124a0001c0034t0004g0158 | 2 | 183 | 0.0109 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242401 | C | CCCTATAC others(38): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242423 | A | ACACACCC others(38): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242468 | C | CCACACAC others(38): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18952.hp1 |
a0001 | a0001c0004a0001c0012 | a0001c0004t0001a0001c0012t0002 | a0001c0004t0001g0157a0001c0012t0002g0183 | 2 | 183 | 0.0109 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242468 | C | CCACACAC others(38): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242693 | C | CCACACCC others(38): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0113 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242714 | C | CTCCCTAT others(38): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242759 | C | CTCCCTAT others(38): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0108 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242804 | T | TTCCCTAT others(38): Show |
intron_variant | MODIFIER | HG00280.hp2 NA20805.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0002 | a0001c0001t0001g0032a0001c0012t0002g0181 | 2 | 183 | 0.0109 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242804 | T | TTCCCTAT others(38): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03486.hp2 |
a0001 | a0001c0002a0001c0028 | a0001c0002t0001a0001c0028t0001 | a0001c0002t0001g0130a0001c0028t0001g0144 | 2 | 183 | 0.0109 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242804 | T | TTCCCTAT others(38): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0013 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242873 | C | CCACACCC others(38): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03209.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0069a0001c0002t0001g0151 | 2 | 183 | 0.0109 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242879 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0093 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242887 | C | CAGGGCCC others(38): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0003 | a0003c0033 | a0003c0033t0001 | a0003c0033t0001g0114 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242924 | A | ACCCTTCC others(38): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0071 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132243014 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01099.hp2 others(34): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0009a0001c0001t0001g0029a0001c0001t0001g0035others(34): Show | 37 | 183 | 0.2022 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132243104 | C | CCCCTTCC others(38): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01981.hp2 HG03834.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0027others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0027t0001others(2): Show | a0001c0001t0001g0136a0001c0002t0001g0004a0001c0027t0001g0082others(2): Show | 5 | 183 | 0.0273 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132243112 | C | CGGGGCCC others(38): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0155 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132243433 | G | GCTCTCTC others(38): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0097 | 1 | 183 | 0.0055 | 45 | c.107 others(64): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77258581 | C | CATGGTGG others(38): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0033a0001c0001t0057others(6): Show | a0001c0001t0005g0287a0001c0001t0033g0209a0001c0001t0057g0309others(12): Show | 15 | 366 | 0.0410 | 45 | c.732 others(62): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GALR1_chr18_77244848_77282900 | 77259060 | G | GTCATGGT others(38): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0007 | a0007c0011 | a0007c0011t0119 | a0007c0011t0119g0315 | 1 | 366 | 0.0027 | 45 | c.732 others(62): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GARIN5A_chr19_50461788_50481848 | 50472270 | T | TATATACA others(38): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(37): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0162a0001c0001t0001g0175a0001c0002t0001g0011others(20): Show | 40 | 414 | 0.0966 | 45 | c.539 others(62): Show |
GARIN5A | ENSG00000142530.11 | transcript | ENST00000600100.6 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 300 | 0.0033 | 45 | c.287 others(62): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 300 | 0.0033 | 45 | c.287 others(62): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GARRE1_chr19_34249554_34360566 | 34340438 | T | TTTTTCTT others(38): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0161a0001c0002t0003g0164a0001c0002t0003g0165others(4): Show | 7 | 326 | 0.0215 | 45 | c.148 others(62): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GAS6_chr13_113815549_113869076 | 113826427 | C | CTCGCAGG others(38): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02132.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0115a0001c0004t0001g0055 | 2 | 143 | 0.0140 | 45 | c.147 others(62): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113826577 | G | GCCAGCCT others(38): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 143 | 0.0070 | 45 | c.147 others(62): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113826618 | C | CAGCCTCG others(38): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0027a0001c0001t0001g0054 | 3 | 143 | 0.0210 | 45 | c.147 others(62): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113826657 | C | CGGCCTCG others(38): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(25): Show |
a0001a0006 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(4): Show | a0001c0001t0001g0053a0001c0001t0001g0060a0001c0001t0001g0076others(25): Show | 28 | 143 | 0.1958 | 45 | c.147 others(62): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | ||||||
| GAS7_chr17_9905606_10203606 | 10046840 | G | GAAAGAAA others(38): Show |
intron_variant | MODIFIER | NA19043.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0061 | a0001c0001t0058g0106a0001c0001t0061g0035 | 2 | 218 | 0.0092 | 45 | c.184 others(64): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| GAS7_chr17_9905606_10203606 | 10159063 | A | ACATATAT others(38): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0125 | 1 | 218 | 0.0046 | 45 | c.183 others(64): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| GATA6_chr18_22164589_22207528 | 22204288 | C | CTCTTTCT others(38): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 286 | 0.0035 | 45 | c.*34 others(56): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 1761 | chr18 | TogoVar | ||||||
| GCNT2_chr6_10516351_10634368 | 10569274 | C | CACACACA others(38): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 324 | 0.0031 | 45 | c.925 others(64): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
| GCNT2_chr6_10516351_10634368 | 10571946 | C | CACTGATA others(38): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0226a0001c0001t0005g0040a0001c0001t0008g0219 | 3 | 324 | 0.0093 | 45 | c.925 others(64): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GCNT2_chr6_10550809_10634368 | 10571946 | C | CACTGATA others(38): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0090a0001c0001t0005g0045a0001c0001t0007g0016 | 3 | 344 | 0.0087 | 45 | c.919 others(64): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000316170.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |