Mercurial > repos > jjohnson > ensembl_variant_report

annotate test-data/GRCh38_X400k.tsv @ 0:9f4ea174ce3d draft

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planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
author jjohnson
date Thu, 14 Jun 2018 17:51:39 -0400
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9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
1 #CHROM POS REF ALT ANN[*].EFFECT ANN[*].GENE ANN[*].FEATUREID DP DPR ANN[*].CDS_POS ANN[*].HGVS_C ANN[*].HGVS_P ANN[*].AA_POS ANN[*].BIOTYPE
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
2 X 284201 T C missense_variant PLCXD1 ENST00000381657 693 1,598 14 n.14T>C p.Val5Ala 5 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
3 X 284201 T C missense_variant PLCXD1 ENST00000399012 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
4 X 284201 T C missense_variant PLCXD1 ENST00000430923 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
5 X 284201 T C missense_variant PLCXD1 ENST00000445062 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
6 X 284201 T C missense_variant PLCXD1 ENST00000429181 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
7 X 284201 T C missense_variant PLCXD1 ENST00000381663 693 1,598 14 n.14T>C p.Val5Ala 5 ensembl
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
8 X 284201 T C missense_variant PLCXD1 ENST00000443019 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
9 X 284201 T C missense_variant PLCXD1 ENST00000415337 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
10 X 284201 T C missense_variant PLCXD1 ENST00000447472 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
11 X 284201 T C missense_variant PLCXD1 ENST00000448477 693 1,598 14 n.14T>C p.Val5Ala 5 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
12 X 288851 G GC frameshift_variant PLCXD1 ENST00000381657 21 3,10 247 n.246_247insC p.Lys83fs 83 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
13 X 288851 G GC frameshift_variant PLCXD1 ENST00000399012 21 3,10 247 n.246_247insC p.Lys83fs 83 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
14 X 288851 G GC frameshift_variant PLCXD1 ENST00000430923 21 3,10 247 n.246_247insC p.Lys83fs 83 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
15 X 288851 G GC frameshift_variant PLCXD1 ENST00000445062 21 3,10 247 n.246_247insC p.Lys83fs 83 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
16 X 288851 G GC frameshift_variant PLCXD1 ENST00000381663 21 3,10 247 n.246_247insC p.Lys83fs 83 ensembl
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
17 X 288851 G GC frameshift_variant PLCXD1 ENST00000415337 21 3,10 247 n.246_247insC p.Lys83fs 83 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
18 X 288851 G GC frameshift_variant PLCXD1 ENST00000447472 21 3,10 247 n.246_247insC p.Lys83fs 83 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
19 X 288851 G GC frameshift_variant PLCXD1 ENST00000448477 21 3,10 247 n.246_247insC p.Lys83fs 83 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
20 X 290695 C G missense_variant PLCXD1 ENST00000381657 910 130,681 312 n.312C>G p.Asp104Glu 104 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
21 X 290695 C G missense_variant PLCXD1 ENST00000399012 910 130,681 312 n.312C>G p.Asp104Glu 104 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
22 X 290695 C G missense_variant PLCXD1 ENST00000484611 910 130,681 404 n.404C>G p.Thr135Ser 135 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
23 X 290695 C G missense_variant PLCXD1 ENST00000430923 910 130,681 312 n.312C>G p.Asp104Glu 104 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
24 X 290695 C G missense_variant PLCXD1 ENST00000381663 910 130,681 312 n.312C>G p.Asp104Glu 104 ensembl
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
25 X 290695 C G missense_variant PLCXD1 ENST00000415337 910 130,681 312 n.312C>G p.Asp104Glu 104 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
26 X 290695 C G missense_variant PLCXD1 ENST00000447472 910 130,681 312 n.312C>G p.Asp104Glu 104 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
27 X 290695 C G missense_variant PLCXD1 ENST00000448477 910 130,681 312 n.312C>G p.Asp104Glu 104 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
28 X 299221 G C missense_variant PLCXD1 ENST00000381657 18 3,13 858 n.858G>C p.Glu286Asp 286 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
29 X 299221 G C missense_variant PLCXD1 ENST00000399012 18 3,13 858 n.858G>C p.Glu286Asp 286 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
30 X 299221 G C missense_variant PLCXD1 ENST00000381663 18 3,13 858 n.858G>C p.Glu286Asp 286 ensembl
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
31 X 307850 G C missense_variant GTPBP6 ENST00000485332 24 7,8 1076 n.1076C>G p.Pro359Arg 359 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
32 X 307850 G C missense_variant GTPBP6 ENST00000326153 24 7,8 1156 n.1156C>G p.His386Asp 386 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
33 X 311500 C CAT frameshift_variant GTPBP6 ENST00000485332 56 11,22 963 n.963_964insAT p.Gly322fs 321 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
34 X 311500 C CAT frameshift_variant GTPBP6 ENST00000326153 56 11,22 1043 n.1043_1044insAT p.Asp349fs 348 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
35 X 334496 A G missense_variant PPP2R3B ENST00000477110 159 52,60 5545 n.5545T>C p.Cys1849Arg 1849 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
36 X 334496 A G missense_variant PPP2R3B ENST00000479438 159 52,60 829 n.829T>C p.Cys277Arg 277 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
37 X 338625 G A missense_variant PPP2R3B ENST00000390665 308 146,132 1556 n.1556C>T p.Ala519Val 519 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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38 X 338625 G A missense_variant PPP2R3B ENST00000468169 308 146,132 701 n.701C>T p.Ala234Val 234 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
39 X 338627 A G missense_variant PPP2R3B ENST00000477110 301 0,271 1414 n.1414T>C p.Cys472Arg 472 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
40 X 338627 A G missense_variant PPP2R3B ENST00000479438 301 0,271 784 n.784T>C p.Cys262Arg 262 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
41 X 338856 A G missense_variant PPP2R3B ENST00000468169 517 15,390 470 n.470T>C p.Leu157Pro 157 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
42 X 340856 CTG C frameshift_variant PPP2R3B ENST00000477110 17 0,11 1118 n.1118_1119delCA p.Ala373fs 373 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
43 X 340856 CTG C frameshift_variant PPP2R3B ENST00000390665 17 0,11 1258 n.1258_1259delCA p.Gln420fs 420 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
44 X 340856 CTG C frameshift_variant PPP2R3B ENST00000479438 17 0,11 488 n.488_489delCA p.Ala163fs 163 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
45 X 340856 CTG C frameshift_variant PPP2R3B ENST00000468169 17 0,11 336 n.336_337delCA p.Ser112fs 112 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
46 X 340856 CTG C frameshift_variant PPP2R3B ENST00000484364 17 0,11 639 n.639_640delCA p.Ser213fs 213 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
47 X 340928 C CA frameshift_variant PPP2R3B ENST00000477110 65 0,50 1047 n.1047_1048insT p.Val350fs 349 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
48 X 340928 C CA frameshift_variant PPP2R3B ENST00000390665 65 0,50 1187 n.1187_1188insT p.Trp396fs 396 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
49 X 340928 C CA frameshift_variant PPP2R3B ENST00000479438 65 0,50 417 n.417_418insT p.Val140fs 139 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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50 X 340928 C CA frameshift_variant PPP2R3B ENST00000468169 65 0,50 265 n.265_266insT p.Gly89fs 89 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
51 X 340928 C CA frameshift_variant PPP2R3B ENST00000484364 65 0,50 568 n.568_569insT p.Gly190fs 190 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
52 X 341347 A C,G missense_variant PPP2R3B ENST00000477110 48 0,20,15 995 n.995T>G p.Leu332Arg 332 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
53 X 341347 A C,G missense_variant PPP2R3B ENST00000477110 48 0,20,15 995 n.995T>C p.Leu332Pro 332 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
54 X 341347 A C,G missense_variant PPP2R3B ENST00000390665 48 0,20,15 1135 n.1135T>G p.Trp379Gly 379 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
diff changeset
55 X 341347 A C,G missense_variant PPP2R3B ENST00000390665 48 0,20,15 1135 n.1135T>C p.Trp379Arg 379 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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56 X 341347 A C,G missense_variant PPP2R3B ENST00000479438 48 0,20,15 365 n.365T>G p.Leu122Arg 122 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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57 X 341347 A C,G missense_variant PPP2R3B ENST00000479438 48 0,20,15 365 n.365T>C p.Leu122Pro 122 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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58 X 345580 G A missense_variant PPP2R3B ENST00000390665 6 0,4 972 n.972C>T p.Trp324Cys 324 ensembl_havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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59 X 345580 G A missense_variant PPP2R3B ENST00000468169 6 0,4 50 n.50C>T p.Gly17Val 17 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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60 X 345580 G A missense_variant PPP2R3B ENST00000484364 6 0,4 47 n.47C>T p.Gly16Val 16 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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61 X 345580 G A missense_variant PPP2R3B ENST00000477636 6 0,4 434 n.434C>T p.Gly145Val 145 havana
9f4ea174ce3d planemo upload for repository https://github.com/jj-umn/galaxytools/tree/master/ensembl_variant_report commit e6aa05bbbee3cc7d98f16354fc41c674f439ff1b-dirty
jjohnson
parents:
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62 X 345580 G A missense_variant PPP2R3B ENST00000445792 6 0,4 1314 n.1314C>T p.Trp438Cys 438 havana