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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UCN_chr2_27302400_27313445 | 27304386 | A | ACCAGCCT others(742): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | 749 | c.*31 others(760): Show |
UCN | ENSG00000163794.6 | transcript | ENST00000296099.2 | protein_coding | 3013 | chr2 | TogoVar | |||||||
UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(742): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0140 | 1 | 250 | 0.0040 | 749 | c.82+ others(764): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCCCT others(742): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0036 | 1 | 202 | 0.0050 | 749 | c.*53 others(760): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 619666 | G | GTGTACCA others(742): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0014 | a0001c0014t0051 | a0001c0014t0051g0091 | 1 | 232 | 0.0043 | 749 | c.111 others(768): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(742): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0021 | 1 | 246 | 0.0041 | 749 | c.-10 others(766): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668866 | G | GCCCGGCC others(743): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0018 | a0018c0086 | a0018c0086t0004 | a0018c0086t0004g0123 | 1 | 360 | 0.0028 | 750 | c.170 others(771): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0256 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0207 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02083.hp2 others(12): Show |
a0002a0003a0009others(2): Show | a0002c0001a0002c0004a0002c0022others(6): Show | a0002c0001t0001a0002c0001t0049a0002c0001t0053others(9): Show | a0002c0001t0001g0107 a0002c0001t0049g0075 a0002c0001t0053g0082 others(12): Show |
15 | 262 | 0.0573 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(8): Show |
a0002 | a0002c0001a0002c0054 | a0002c0001t0001a0002c0001t0006a0002c0054t0001 | a0002c0001t0001g0048 a0002c0001t0001g0140 a0002c0001t0001g0166 others(8): Show |
11 | 262 | 0.0420 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0052 | a0001c0052t0002 | a0001c0052t0002g0083 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0132 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0002 | a0002c0001 | a0002c0001t0056 | a0002c0001t0056g0039 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01515.hp2 others(2): Show |
a0001a0032 | a0001c0002a0032c0023 | a0001c0002t0002a0032c0023t0071 | a0001c0002t0002g0092 a0001c0002t0002g0111 a0001c0002t0002g0167 others(2): Show |
5 | 262 | 0.0191 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0044 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(58): Show |
a0001a0002a0009others(12): Show | a0001c0002a0001c0007a0001c0042others(15): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0076others(28): Show | a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0205 others(58): Show |
61 | 262 | 0.2328 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG04228.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0018 | a0002c0001t0001g0017 a0002c0001t0001g0125 a0002c0001t0018g0126 |
3 | 262 | 0.0115 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(743): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0218 | 1 | 262 | 0.0038 | 750 | c.775 others(765): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(743): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0005 | a0005c0005t0038 | a0005c0005t0038g0024 | 1 | 268 | 0.0037 | 750 | c.-37 others(761): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | |||||||
AKR1C2_chr10_4982775_5008857 | 5006593 | C | CCCCCCCC others(743): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0012 | 1 | 412 | 0.0024 | 750 | c.-27 others(761): Show |
AKR1C2 | ENSG00000151632.18 | transcript | ENST00000380753.9 | protein_coding | 2737 | chr10 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0318 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0325 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01891.hp1 others(9): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0001t0004a0001c0017t0004 | a0001c0001t0003g0261 a0001c0001t0004g0238 a0001c0001t0004g0239 others(9): Show |
12 | 340 | 0.0353 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | NA18956.hp1 NA18998.hp2 NA19077.hp2 |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0002a0001c0002t0017a0004c0008t0002 | a0001c0001t0002g0042 a0001c0002t0017g0228 a0004c0008t0002g0088 |
3 | 340 | 0.0088 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01978.hp1 HG01978.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0006 | a0001c0002t0001a0001c0002t0045a0002c0006t0001 | a0001c0002t0001g0121 a0001c0002t0001g0204 a0001c0002t0001g0219 others(2): Show |
5 | 340 | 0.0147 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0169 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0006 | a0006c0016 | a0006c0016t0050 | a0006c0016t0050g0280 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0042 | a0001c0002t0042g0133 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15742674 | A | AGCCAGCC others(743): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194 | 1 | 340 | 0.0029 | 750 | c.352 others(767): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 4/27 | chr3 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251789 | G | GAAGGGAA others(743): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG03195.hp2 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0005a0008c0007t0005 | a0001c0001t0005g0239 a0001c0001t0005g0240 a0008c0007t0005g0238 |
3 | 242 | 0.0124 | 750 | c.927 others(767): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGEF10L_chr1_17534698_17702869 | 17689483 | C | CCCTCCCT others(743): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0034 | a0001c0034t0002 | a0001c0034t0002g0110 | 1 | 168 | 0.0060 | 750 | c.318 others(769): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP8A2_chr13_25366974_26030851 | 25731246 | A | AAGGAAGG others(743): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0022 | 1 | 122 | 0.0082 | 750 | c.238 others(771): Show |
ATP8A2 | ENSG00000132932.19 | transcript | ENST00000381655.7 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078506 | G | GGCTGAGG others(743): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 326 | 0.0031 | 750 | c.*43 others(761): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3316 | chr1 | TogoVar | |||||||
C4orf50_chr4_5954375_6023431 | 6004348 | A | ATGTGGTG others(743): Show |
intron_variant | MODIFIER | HG01109.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0032 |
2 | 346 | 0.0058 | 750 | c.963 others(767): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1003268 | C | CGGGTGAG others(743): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208 | 1 | 326 | 0.0031 | 750 | c.324 others(767): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(743): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0280 | 1 | 376 | 0.0027 | 750 | c.63+ others(763): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(743): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0040 | 1 | 168 | 0.0060 | 750 | c.-26 others(759): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCCC others(743): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 320 | 0.0031 | 750 | c.*39 others(761): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(743): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0134 | a0001c0134t0001 | a0001c0134t0001g0057 | 1 | 252 | 0.0040 | 750 | c.118 others(769): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369773 | G | GCCCCTTC others(743): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 372 | 0.0027 | 750 | c.346 others(767): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 139558 | T | TCAGGGCC others(743): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0267 | 1 | 339 | 0.0030 | 750 | c.*78 others(761): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 3230 | chr17 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(743): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG01934.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0010 | a0001c0001t0001a0001c0002t0001a0002c0010t0001 | a0001c0001t0001g0049 a0001c0001t0001g0145 a0001c0001t0001g0146 others(8): Show |
12 | 374 | 0.0321 | 750 | c.772 others(765): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 519676 | G | GCACCGAG others(743): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0009 | a0004c0009t0009 | a0004c0009t0009g0148 | 1 | 272 | 0.0037 | 750 | c.238 others(771): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520376 | C | CCACCGAG others(743): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0132 | 1 | 272 | 0.0037 | 750 | c.238 others(771): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520426 | C | CCACCGAG others(743): Show |
intron_variant | MODIFIER | NA18979.hp1 NA18983.hp1 NA19055.hp1 others(1): Show |
a0001 | a0001c0004a0001c0017 | a0001c0004t0001a0001c0004t0005a0001c0017t0005 | a0001c0004t0001g0220 a0001c0004t0005g0219 a0001c0004t0005g0221 others(1): Show |
4 | 272 | 0.0147 | 750 | c.238 others(771): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(743): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 272 | 0.0037 | 750 | c.238 others(771): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
FBXO47_chr17_38931432_38972403 | 38946697 | T | TAAAAATA others(743): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 344 | 0.0029 | 750 | c.617 others(767): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar |