GPN-Star
Collection
paper: https://www.biorxiv.org/content/10.1101/2025.09.21.677619v1 code: https://github.com/songlab-cal/gpn
•
30 items
•
Updated
•
5
chrom
stringclasses 24
values | pos
int64 45.7k
248M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
stringclasses 2
values | id
stringlengths 1
7
| review_status
stringclasses 5
values | consequence
stringclasses 77
values |
|---|---|---|---|---|---|---|---|
1
| 930,165
|
G
|
A
|
Benign
|
1164676
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 930,204
|
G
|
A
|
Benign
|
1170208
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 930,285
|
G
|
A
|
Benign
|
1165489
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 930,314
|
C
|
T
|
Benign
|
1170010
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 935,779
|
G
|
A
|
Benign
|
1167937
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 939,429
|
G
|
C
|
Benign
|
1167351
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 942,451
|
T
|
C
|
Benign
|
1166513
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 942,930
|
T
|
C
|
Benign
|
1169836
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 942,945
|
C
|
T
|
Benign
|
1170437
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 942,951
|
C
|
T
|
Benign
|
1170505
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 944,001
|
C
|
T
|
Benign
|
1164573
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 944,004
|
G
|
A
|
Benign
|
1164106
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 944,029
|
C
|
G
|
Benign
|
1168053
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 944,101
|
G
|
C
|
Benign
|
780745
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 966,542
|
G
|
A
|
Benign
|
782833
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 966,543
|
C
|
A
|
Benign
|
782834
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 972,895
|
G
|
A
|
Benign
|
770481
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 973,842
|
G
|
A
|
Benign
|
791106
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 976,215
|
A
|
G
|
Pathogenic
|
1320032
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,014,042
|
G
|
A
|
Benign
|
475283
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,014,228
|
G
|
A
|
Benign
|
402986
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,020,183
|
G
|
C
|
Benign
|
387476
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,041,583
|
A
|
G
|
Benign
|
128291
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,044,368
|
A
|
T
|
Benign
|
128294
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,045,751
|
A
|
G
|
Benign
|
263173
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,047,342
|
A
|
G
|
Benign
|
128299
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,048,126
|
C
|
T
|
Benign
|
128304
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,048,900
|
G
|
A
|
Benign
|
703974
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,050,446
|
G
|
A
|
Benign
|
128312
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,050,449
|
G
|
A
|
Pathogenic
|
1284257
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,050,575
|
G
|
C
|
Pathogenic
|
18241
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,213,738
|
G
|
A
|
Pathogenic
|
96692
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,214,100
|
G
|
A
|
Benign
|
474794
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,232,279
|
A
|
G
|
Pathogenic
|
60484
|
criteria_provided,_multiple_submitters,_no_conflicts
|
initiatior_codon_variant,missense_variant
|
1
| 1,232,280
|
T
|
C
|
Pathogenic
|
1452181
|
criteria_provided,_single_submitter
|
initiatior_codon_variant,missense_variant
|
1
| 1,232,281
|
G
|
A
|
Pathogenic
|
2151860
|
criteria_provided,_single_submitter
|
initiatior_codon_variant,missense_variant
|
1
| 1,232,471
|
A
|
G
|
Pathogenic
|
60488
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,232,478
|
C
|
T
|
Pathogenic
|
60489
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,232,735
|
C
|
A
|
Benign
|
390636
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,232,744
|
G
|
A
|
Pathogenic
|
60486
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,232,754
|
C
|
A
|
Pathogenic
|
869983
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,232,800
|
G
|
C
|
Benign
|
281204
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,232,834
|
T
|
C
|
Pathogenic
|
522415
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,232,896
|
C
|
G
|
Pathogenic
|
869985
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,232,897
|
G
|
C
|
Pathogenic
|
60495
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,232,927
|
G
|
A
|
Pathogenic
|
60496
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,233,044
|
C
|
T
|
Pathogenic
|
996067
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,233,177
|
G
|
C
|
Pathogenic
|
60487
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,233,203
|
T
|
A
|
Pathogenic
|
60491
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,242,601
|
C
|
T
|
Benign
|
789547
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,242,864
|
G
|
C
|
Benign
|
772646
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,312,290
|
C
|
T
|
Pathogenic
|
2506981
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,312,841
|
G
|
A
|
Pathogenic
|
2506979
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,319,313
|
G
|
A
|
Pathogenic
|
2506980
|
no_assertion_criteria_provided
|
intron_variant,missense_variant
|
1
| 1,320,493
|
C
|
T
|
Pathogenic
|
2506982
|
no_assertion_criteria_provided
|
intron_variant,missense_variant
|
1
| 1,321,072
|
C
|
A
|
Pathogenic
|
2506983
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,intron_variant,missense_variant
|
1
| 1,332,630
|
G
|
T
|
Benign
|
775486
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,334,108
|
G
|
A
|
Benign
|
1222088
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,336,290
|
G
|
A
|
Benign
|
2194805
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,336,404
|
G
|
A
|
Benign
|
1535754
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,338,168
|
T
|
C
|
Benign
|
1364784
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,338,617
|
A
|
T
|
Benign
|
1927325
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,340,312
|
G
|
A
|
Benign
|
1599156
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,340,424
|
G
|
C
|
Benign
|
599454
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,341,749
|
G
|
C
|
Benign
|
1611353
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,341,803
|
C
|
A
|
Benign
|
1041254
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,341,803
|
C
|
T
|
Benign
|
1169213
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,437,393
|
C
|
T
|
Benign
|
781924
|
criteria_provided,_single_submitter
|
missense_variant,synonymous_variant
|
1
| 1,439,425
|
G
|
C
|
Benign
|
1229112
|
criteria_provided,_single_submitter
|
3_prime_UTR_variant,missense_variant
|
1
| 1,454,394
|
C
|
T
|
Benign
|
1253304
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,477,279
|
G
|
T
|
Benign
|
780746
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,495,783
|
G
|
A
|
Benign
|
786444
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,495,785
|
C
|
T
|
Benign
|
767642
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,512,287
|
A
|
G
|
Benign
|
1675332
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,516,036
|
T
|
G
|
Pathogenic
|
828051
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
|
1
| 1,523,535
|
C
|
T
|
Benign
|
791764
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,525,242
|
T
|
G
|
Pathogenic
|
637018
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,527,777
|
G
|
C
|
Benign
|
791767
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,535,427
|
C
|
T
|
Benign
|
1235425
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,535,616
|
G
|
A
|
Pathogenic
|
161194
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,535,723
|
G
|
A
|
Pathogenic
|
161195
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,626,711
|
G
|
A
|
Benign
|
780208
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
|
1
| 1,757,140
|
C
|
A
|
Benign
|
791769
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 1,759,182
|
G
|
A
|
Benign
|
716793
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 1,759,828
|
G
|
A
|
Benign
|
716794
|
criteria_provided,_single_submitter
|
intron_variant,missense_variant
|
1
| 1,790,438
|
C
|
T
|
Benign
|
1424675
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,790,444
|
A
|
G
|
Benign
|
1551623
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,790,578
|
C
|
G
|
Benign
|
1610568
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,793,270
|
C
|
T
|
Benign
|
1594453
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,804,475
|
T
|
C
|
Benign
|
1472005
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,804,496
|
T
|
C
|
Pathogenic
|
521213
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,804,497
|
C
|
A
|
Pathogenic
|
812755
|
criteria_provided,_multiple_submitters,_no_conflicts
|
missense_variant
|
1
| 1,804,502
|
C
|
A
|
Pathogenic
|
1194565
|
criteria_provided,_single_submitter
|
missense_variant
|
1
| 1,804,508
|
C
|
T
|
Pathogenic
|
1315581
|
no_assertion_criteria_provided
|
missense_variant
|
1
| 1,804,562
|
C
|
A
|
Pathogenic
|
995962
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
|
1
| 1,806,503
|
A
|
T
|
Pathogenic
|
224715
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
|
1
| 1,806,512
|
C
|
A
|
Pathogenic
|
1315582
|
no_assertion_criteria_provided
|
5_prime_UTR_variant,missense_variant
|
1
| 1,806,513
|
C
|
A
|
Pathogenic
|
1700090
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
|
1
| 1,806,514
|
A
|
T
|
Pathogenic
|
1699320
|
criteria_provided,_single_submitter
|
5_prime_UTR_variant,missense_variant
|
1
| 1,806,515
|
T
|
C
|
Pathogenic
|
224711
|
criteria_provided,_multiple_submitters,_no_conflicts
|
5_prime_UTR_variant,missense_variant
|