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Datasets:
nicolynnvila
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splicing_epistasis_okgp_cons_driver_tcgarec

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Tags:
genomics
splicing
epistasis
1000-genomes
constrained
tcga
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pandas
Polars
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epistasis_id
stringlengths
37
45
arm
stringclasses
2 values
gene
stringclasses
43 values
chrom
int64
1
20
mut1
stringlengths
18
22
mut2
stringlengths
18
22
distance
int64
1
100
n_mut1
int64
3
254
n_mut2
int64
3
254
n_both
int64
0
220
CSF1:1:109928569:G:A|CSF1:1:109928644:G:A
observed
CSF1
1
CSF1:1:109928569:G:A
CSF1:1:109928644:G:A
75
31
15
1
TLE1:9:81660753:A:G|TLE1:9:81660822:C:T
observed
TLE1
9
TLE1:9:81660753:A:G
TLE1:9:81660822:C:T
69
25
18
1
POLG:15:89331382:C:T|POLG:15:89331448:C:G
observed
POLG
15
POLG:15:89331382:C:T
POLG:15:89331448:C:G
66
67
140
1
CDKN2A:9:21974464:C:A|CDKN2A:9:21974525:A:T
observed
CDKN2A
9
CDKN2A:9:21974464:C:A
CDKN2A:9:21974525:A:T
61
45
14
1
CDKN2A:9:21974463:A:C|CDKN2A:9:21974525:A:T
observed
CDKN2A
9
CDKN2A:9:21974463:A:C
CDKN2A:9:21974525:A:T
62
45
14
1
DAZAP1:19:1430262:G:A|DAZAP1:19:1430304:T:C
observed
DAZAP1
19
DAZAP1:19:1430262:G:A
DAZAP1:19:1430304:T:C
42
5
74
1
WT1:11:32424938:G:C|WT1:11:32424998:T:C
observed
WT1
11
WT1:11:32424938:G:C
WT1:11:32424998:T:C
60
178
37
8
TFG:3:100733740:G:A|TFG:3:100733773:T:G
observed
TFG
3
TFG:3:100733740:G:A
TFG:3:100733773:T:G
33
6
55
1
PRKCI:3:170281570:A:G|PRKCI:3:170281646:G:A
observed
PRKCI
3
PRKCI:3:170281570:A:G
PRKCI:3:170281646:G:A
76
80
5
1
TLE1:9:81675720:G:T|TLE1:9:81675741:G:A
observed
TLE1
9
TLE1:9:81675720:G:T
TLE1:9:81675741:G:A
21
15
12
6
TLE1:9:81675727:A:C|TLE1:9:81675741:G:A
observed
TLE1
9
TLE1:9:81675727:A:C
TLE1:9:81675741:G:A
14
154
12
1
TEK:9:27130034:T:A|TEK:9:27130134:A:G
observed
TEK
9
TEK:9:27130034:T:A
TEK:9:27130134:A:G
100
31
3
1
DICER1:14:95157939:T:A|DICER1:14:95157956:C:T
observed
DICER1
14
DICER1:14:95157939:T:A
DICER1:14:95157956:C:T
17
162
4
2
JAK1:1:64914897:T:C|JAK1:1:64914981:C:T
observed
JAK1
1
JAK1:1:64914897:T:C
JAK1:1:64914981:C:T
84
3
233
3
DNMT3B:20:32772591:A:G|DNMT3B:20:32772593:C:T
observed
DNMT3B
20
DNMT3B:20:32772591:A:G
DNMT3B:20:32772593:C:T
2
42
42
42
DAZAP1:19:1430479:C:T|DAZAP1:19:1430551:G:A
observed
DAZAP1
19
DAZAP1:19:1430479:C:T
DAZAP1:19:1430551:G:A
72
195
15
4
SP140:2:230295391:A:G|SP140:2:230295448:T:G
observed
SP140
2
SP140:2:230295391:A:G
SP140:2:230295448:T:G
57
68
27
1
IKZF2:2:213066309:C:A|IKZF2:2:213066382:T:C
observed
IKZF2
2
IKZF2:2:213066309:C:A
IKZF2:2:213066382:T:C
73
6
47
6
CDKN2A:9:21973768:T:C|CDKN2A:9:21973845:T:A
observed
CDKN2A
9
CDKN2A:9:21973768:T:C
CDKN2A:9:21973845:T:A
77
15
29
1
EZR:6:158813011:C:T|EZR:6:158813098:C:A
observed
EZR
6
EZR:6:158813011:C:T
EZR:6:158813098:C:A
87
22
69
1
DDR2:1:162741214:T:C|DDR2:1:162741288:A:G
observed
DDR2
1
DDR2:1:162741214:T:C
DDR2:1:162741288:A:G
74
198
61
3
ACSL3:2:222931655:C:T|ACSL3:2:222931752:C:T
observed
ACSL3
2
ACSL3:2:222931655:C:T
ACSL3:2:222931752:C:T
97
218
34
2
ACVR1B:12:51952893:C:T|ACVR1B:12:51952991:A:T
observed
ACVR1B
12
ACVR1B:12:51952893:C:T
ACVR1B:12:51952991:A:T
98
20
74
1
CRTC1:19:18712239:C:T|CRTC1:19:18712294:C:T
observed
CRTC1
19
CRTC1:19:18712239:C:T
CRTC1:19:18712294:C:T
55
234
31
1
PTCH1:9:95462941:G:A|PTCH1:9:95462966:G:A
observed
PTCH1
9
PTCH1:9:95462941:G:A
PTCH1:9:95462966:G:A
25
41
3
1
NCOA4:10:46022537:T:C|NCOA4:10:46022587:G:C
observed
NCOA4
10
NCOA4:10:46022537:T:C
NCOA4:10:46022587:G:C
50
214
52
3
POLG:15:89317297:A:G|POLG:15:89317351:T:C
observed
POLG
15
POLG:15:89317297:A:G
POLG:15:89317351:T:C
54
46
37
4
TFG:3:100733730:A:C|TFG:3:100733773:T:G
observed
TFG
3
TFG:3:100733730:A:C
TFG:3:100733773:T:G
43
157
55
55
MOB3B:9:27350874:C:T|MOB3B:9:27350944:C:A
observed
MOB3B
9
MOB3B:9:27350874:C:T
MOB3B:9:27350944:C:A
70
233
34
2
DICER1:14:95125364:G:T|DICER1:14:95125401:C:G
observed
DICER1
14
DICER1:14:95125364:G:T
DICER1:14:95125401:C:G
37
6
52
1
ACSL3:2:222929494:G:A|ACSL3:2:222929507:C:T
observed
ACSL3
2
ACSL3:2:222929494:G:A
ACSL3:2:222929507:C:T
13
58
4
1
ACSL6:5:132010780:T:A|ACSL6:5:132010880:G:A
observed
ACSL6
5
ACSL6:5:132010780:T:A
ACSL6:5:132010880:G:A
100
23
172
2
TFG:3:100737118:A:G|TFG:3:100737203:T:C
observed
TFG
3
TFG:3:100737118:A:G
TFG:3:100737203:T:C
85
8
64
8
PRKCI:3:170246743:C:G|PRKCI:3:170246782:C:A
observed
PRKCI
3
PRKCI:3:170246743:C:G
PRKCI:3:170246782:C:A
39
121
4
1
PRKCI:3:170243672:A:T|PRKCI:3:170243720:C:A
observed
PRKCI
3
PRKCI:3:170243672:A:T
PRKCI:3:170243720:C:A
48
122
15
1
POLG:15:89334334:G:A|POLG:15:89334419:C:G
observed
POLG
15
POLG:15:89334334:G:A
POLG:15:89334419:C:G
85
3
117
1
CRTC1:19:18734027:G:A|CRTC1:19:18734056:C:T
observed
CRTC1
19
CRTC1:19:18734027:G:A
CRTC1:19:18734056:C:T
29
33
40
1
EZR:6:158790402:T:C|EZR:6:158790502:C:T
observed
EZR
6
EZR:6:158790402:T:C
EZR:6:158790502:C:T
100
13
122
1
POLG:15:89317328:T:C|POLG:15:89317351:T:C
observed
POLG
15
POLG:15:89317328:T:C
POLG:15:89317351:T:C
23
50
37
2
AXL:19:41219621:G:A|AXL:19:41219625:G:A
observed
AXL
19
AXL:19:41219621:G:A
AXL:19:41219625:G:A
4
20
20
20
PC:11:66855824:T:C|PC:11:66855851:C:A
observed
PC
11
PC:11:66855824:T:C
PC:11:66855851:C:A
27
16
135
2
DDR2:1:162741241:A:G|DDR2:1:162741288:A:G
observed
DDR2
1
DDR2:1:162741241:A:G
DDR2:1:162741288:A:G
47
82
61
4
WT1:11:32418810:G:A|WT1:11:32418830:C:A
observed
WT1
11
WT1:11:32418810:G:A
WT1:11:32418830:C:A
20
62
37
1
ACSL6:5:131971733:C:A|ACSL6:5:131971740:G:A
observed
ACSL6
5
ACSL6:5:131971733:C:A
ACSL6:5:131971740:G:A
7
44
7
2
DNMT3B:20:32785111:A:G|DNMT3B:20:32785200:C:T
observed
DNMT3B
20
DNMT3B:20:32785111:A:G
DNMT3B:20:32785200:C:T
89
64
18
1
ACSL3:2:222875486:A:T|ACSL3:2:222875571:A:G
observed
ACSL3
2
ACSL3:2:222875486:A:T
ACSL3:2:222875571:A:G
85
4
8
1
ELN:7:74033372:A:G|ELN:7:74033442:G:A
observed
ELN
7
ELN:7:74033372:A:G
ELN:7:74033442:G:A
70
23
17
2
GNA12:7:2823040:T:C|GNA12:7:2823041:A:G
observed
GNA12
7
GNA12:7:2823040:T:C
GNA12:7:2823041:A:G
1
49
29
1
ELN:7:74066002:G:C|ELN:7:74066040:C:T
observed
ELN
7
ELN:7:74066002:G:C
ELN:7:74066040:C:T
38
128
5
2
ERC1:12:1481462:G:A|ERC1:12:1481525:G:A
observed
ERC1
12
ERC1:12:1481462:G:A
ERC1:12:1481525:G:A
63
96
106
5
AXL:19:41229751:A:T|AXL:19:41229768:G:A
observed
AXL
19
AXL:19:41229751:A:T
AXL:19:41229768:G:A
17
194
13
3
TFG:3:100748556:G:A|TFG:3:100748569:A:G
observed
TFG
3
TFG:3:100748556:G:A
TFG:3:100748569:A:G
13
5
62
1
TLE1:9:81679196:T:C|TLE1:9:81679225:A:C
observed
TLE1
9
TLE1:9:81679196:T:C
TLE1:9:81679225:A:C
29
3
122
1
GNA12:7:2822986:A:G|GNA12:7:2823041:A:G
observed
GNA12
7
GNA12:7:2822986:A:G
GNA12:7:2823041:A:G
55
21
29
2
TFG:3:100745031:T:C|TFG:3:100745036:A:T
observed
TFG
3
TFG:3:100745031:T:C
TFG:3:100745036:A:T
5
14
14
14
PTCH1:9:95445542:C:G|PTCH1:9:95445592:G:A
observed
PTCH1
9
PTCH1:9:95445542:C:G
PTCH1:9:95445592:G:A
50
55
18
1
QKI:6:163517216:G:A|QKI:6:163517299:A:G
observed
QKI
6
QKI:6:163517216:G:A
QKI:6:163517299:A:G
83
22
206
1
ACSL3:2:222871965:C:T|ACSL3:2:222872007:A:G
observed
ACSL3
2
ACSL3:2:222871965:C:T
ACSL3:2:222872007:A:G
42
136
10
1
ERC1:12:1067364:T:C|ERC1:12:1067368:C:A
observed
ERC1
12
ERC1:12:1067364:T:C
ERC1:12:1067368:C:A
4
27
210
5
PRKCI:3:170234651:C:T|PRKCI:3:170234674:A:G
observed
PRKCI
3
PRKCI:3:170234651:C:T
PRKCI:3:170234674:A:G
23
82
120
1
ACSL6:5:131998831:C:T|ACSL6:5:131998836:T:G
observed
ACSL6
5
ACSL6:5:131998831:C:T
ACSL6:5:131998836:T:G
5
22
173
3
DDR2:1:162718831:A:G|DDR2:1:162718891:G:A
observed
DDR2
1
DDR2:1:162718831:A:G
DDR2:1:162718891:G:A
60
102
81
2
MOB3B:9:27523530:A:G|MOB3B:9:27523617:T:G
observed
MOB3B
9
MOB3B:9:27523530:A:G
MOB3B:9:27523617:T:G
87
140
30
3
TFG:3:100741242:T:C|TFG:3:100741255:G:A
observed
TFG
3
TFG:3:100741242:T:C
TFG:3:100741255:G:A
13
8
20
1
WT1:11:32411924:G:A|WT1:11:32411933:T:G
observed
WT1
11
WT1:11:32411924:G:A
WT1:11:32411933:T:G
9
46
62
3
ACSL3:2:222919123:G:A|ACSL3:2:222919163:A:G
observed
ACSL3
2
ACSL3:2:222919123:G:A
ACSL3:2:222919163:A:G
40
113
10
1
PHLPP2:16:71691267:G:A|PHLPP2:16:71691282:G:A
observed
PHLPP2
16
PHLPP2:16:71691267:G:A
PHLPP2:16:71691282:G:A
15
23
4
1
SETD5:3:9451684:A:C|SETD5:3:9451728:G:A
observed
SETD5
3
SETD5:3:9451684:A:C
SETD5:3:9451728:G:A
44
186
6
1
CBLB:3:105664048:C:A|CBLB:3:105664128:T:C
observed
CBLB
3
CBLB:3:105664048:C:A
CBLB:3:105664128:T:C
80
10
20
1
ERC1:12:1126756:G:C|ERC1:12:1126761:G:A
observed
ERC1
12
ERC1:12:1126756:G:C
ERC1:12:1126761:G:A
5
4
93
1
TEK:9:27158011:T:C|TEK:9:27158012:G:A
observed
TEK
9
TEK:9:27158011:T:C
TEK:9:27158012:G:A
1
5
85
1
BRSK1:19:55295839:C:G|BRSK1:19:55295841:T:C
observed
BRSK1
19
BRSK1:19:55295839:C:G
BRSK1:19:55295841:T:C
2
5
5
5
MGA:15:41689599:T:C|MGA:15:41689633:T:A
observed
MGA
15
MGA:15:41689599:T:C
MGA:15:41689633:T:A
34
96
96
95
CRTC1:19:18694698:A:G|CRTC1:19:18694722:C:T
observed
CRTC1
19
CRTC1:19:18694698:A:G
CRTC1:19:18694722:C:T
24
4
3
1
CBLB:3:105791385:C:T|CBLB:3:105791436:A:C
observed
CBLB
3
CBLB:3:105791385:C:T
CBLB:3:105791436:A:C
51
7
90
1
POLG:15:89327817:G:A|POLG:15:89327842:A:G
observed
POLG
15
POLG:15:89327817:G:A
POLG:15:89327842:A:G
25
26
6
1
WT1:11:32413028:A:T|WT1:11:32413059:T:A
observed
WT1
11
WT1:11:32413028:A:T
WT1:11:32413059:T:A
31
19
60
1
JAK1:1:64886699:C:T|JAK1:1:64886700:G:A
observed
JAK1
1
JAK1:1:64886699:C:T
JAK1:1:64886700:G:A
1
9
19
1
CDK8:13:26365188:G:T|CDK8:13:26365201:T:G
observed
CDK8
13
CDK8:13:26365188:G:T
CDK8:13:26365201:T:G
13
95
10
1
SP140:2:230210577:T:G|SP140:2:230210667:C:T
observed
SP140
2
SP140:2:230210577:T:G
SP140:2:230210667:C:T
90
133
23
2
AXL:19:41220549:G:A|AXL:19:41220610:G:T
observed
AXL
19
AXL:19:41220549:G:A
AXL:19:41220610:G:T
61
103
11
1
ERC1:12:1483969:T:C|ERC1:12:1484023:C:T
observed
ERC1
12
ERC1:12:1483969:T:C
ERC1:12:1484023:C:T
54
220
220
220
ERC1:12:1466970:G:A|ERC1:12:1467029:A:G
observed
ERC1
12
ERC1:12:1466970:G:A
ERC1:12:1467029:A:G
59
41
55
1
PHLPP2:16:71669306:T:G|PHLPP2:16:71669349:A:G
observed
PHLPP2
16
PHLPP2:16:71669306:T:G
PHLPP2:16:71669349:A:G
43
6
180
1
DNMT3B:20:32785076:G:A|DNMT3B:20:32785111:A:G
observed
DNMT3B
20
DNMT3B:20:32785076:G:A
DNMT3B:20:32785111:A:G
35
15
64
1
TEK:9:27228471:A:G|TEK:9:27228474:T:C
observed
TEK
9
TEK:9:27228471:A:G
TEK:9:27228474:T:C
3
32
10
1
POLG:15:89322333:C:G|POLG:15:89322395:T:C
observed
POLG
15
POLG:15:89322333:C:G
POLG:15:89322395:T:C
62
217
3
3
PTCH1:9:95446812:C:T|PTCH1:9:95446874:T:C
observed
PTCH1
9
PTCH1:9:95446812:C:T
PTCH1:9:95446874:T:C
62
4
150
1
POLG:15:89319681:C:A|POLG:15:89319687:G:A
observed
POLG
15
POLG:15:89319681:C:A
POLG:15:89319687:G:A
6
114
11
1
PRKCI:3:170298266:G:T|PRKCI:3:170298291:G:A
observed
PRKCI
3
PRKCI:3:170298266:G:T
PRKCI:3:170298291:G:A
25
82
13
2
TLE1:9:81673027:C:T|TLE1:9:81673121:A:G
observed
TLE1
9
TLE1:9:81673027:C:T
TLE1:9:81673121:A:G
94
12
138
1
TEK:9:27121329:A:C|TEK:9:27121340:A:T
observed
TEK
9
TEK:9:27121329:A:C
TEK:9:27121340:A:T
11
6
110
1
PRKCI:3:170246754:A:C|PRKCI:3:170246782:C:A
observed
PRKCI
3
PRKCI:3:170246754:A:C
PRKCI:3:170246782:C:A
28
67
4
4
DDR2:1:162693051:C:T|DDR2:1:162693058:G:A
observed
DDR2
1
DDR2:1:162693051:C:T
DDR2:1:162693058:G:A
7
180
3
1
TEK:9:27215499:T:C|TEK:9:27215539:G:C
observed
TEK
9
TEK:9:27215499:T:C
TEK:9:27215539:G:C
40
222
32
1
PLAG1:8:56192178:C:T|PLAG1:8:56192220:G:T
observed
PLAG1
8
PLAG1:8:56192178:C:T
PLAG1:8:56192220:G:T
42
6
16
6
WT1:11:32426234:G:A|WT1:11:32426296:G:C
observed
WT1
11
WT1:11:32426234:G:A
WT1:11:32426296:G:C
62
82
37
2
DDR2:1:162642303:G:A|DDR2:1:162642398:G:C
observed
DDR2
1
DDR2:1:162642303:G:A
DDR2:1:162642398:G:C
95
4
59
4
PHLPP2:16:71683490:C:G|PHLPP2:16:71683538:T:C
observed
PHLPP2
16
PHLPP2:16:71683490:C:G
PHLPP2:16:71683538:T:C
48
5
71
1
SP140:2:230220919:G:A|SP140:2:230220972:A:G
observed
SP140
2
SP140:2:230220919:G:A
SP140:2:230220972:A:G
53
72
119
6
End of preview. Expand in Data Studio

CONSTRAINED OncoKB drivers with TCGA-recurrent doublets (Panel D)

10,864 cis-double SNV pairs across 41 genes: OncoKB cancer drivers, LOEUF<0.7, with ≥2 TCGA-clean pairs × ≥5 carriers each. Tests the RESCUE-enrichment hypothesis.

Built with the standard paper §2 ¶1-5 methodology:

  • ≤100 nt intra-gene window
  • ≥3 1KG carriers per constituent
  • TopLD r² ≥ 0.2 dropped
  • Greedy 1:1 matched arms keyed on gene + log-rarity bin + distance ±2 nt
  • seed=42

Companion panels:

  • splicing_epistasis_okgp_cons_driver_tcgarec — Panel D
  • splicing_epistasis_okgp_cons_nondriver_tcgarec — Panel E
  • splicing_epistasis_okgp_cons_silent_control — Panel F
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