chrom
stringclasses 24
values | pos
int64 10.2k
249M
| ref
stringclasses 4
values | alt
stringclasses 4
values | label
stringclasses 4
values | source
stringclasses 4
values | consequence
stringlengths 9
465
| id
stringlengths 1
7
⌀ | review_status
stringclasses 5
values | GENOMIC_MUTATION_ID
stringlengths 12
12
⌀ | n_samples
float64 44
1.46k
⌀ | total_samples
float64 43.2k
43.2k
⌀ | freq
float64 0
0.03
⌀ | OMIM
stringlengths 3
10
⌀ | Gene
stringlengths 2
8
⌀ | PMID
float64 1.37M
26.6M
⌀ | AC
float64 1
152k
⌀ | AN
float64 140k
152k
⌀ | AF
float64 0
1
⌀ | MAF
float64 0
0.5
⌀ | MAC
float64 1
76.1k
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
X
| 154,966,654 |
C
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10202
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,966,664 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10142
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,966,677 |
T
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
627191
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,355 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10141
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,360 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10199
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,400 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10197
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,405 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10196
|
criteria_provided,_multiple_submitters,_no_conflicts
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,417 |
G
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10195
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,438 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10193
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,438 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
10192
|
criteria_provided,_multiple_submitters,_no_conflicts
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,444 |
T
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10191
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,459 |
G
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10190
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,468 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10099
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,469 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
2428502
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,486 |
A
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10189
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,969,508 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
10187
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,984,708 |
A
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
618107
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,984,714 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
1330606
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,987,237 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10180
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,987,242 |
T
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10179
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,992,962 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
618637
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,992,971 |
G
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10129
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,992,983 |
T
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10178
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,992,996 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
10177
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,993,046 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10175
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,993,127 |
G
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10174
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,993,133 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10173
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,993,139 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10172
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,996,973 |
C
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10170
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,011 |
A
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10169
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,033 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10168
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,038 |
T
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
10167
|
criteria_provided,_multiple_submitters,_no_conflicts
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,050 |
A
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
10166
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,059 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
812076
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,065 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
993612
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,065 |
A
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
10165
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,086 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10164
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 154,997,095 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
10163
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,022,432 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10156
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,022,449 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10352
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,022,464 |
T
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
10154
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,022,476 |
A
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
10153
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,022,664 |
C
|
T
|
Pathogenic
|
OMIM
|
5’ UTR Mutations
| null | null | null | null | null | null |
MIM 306700
|
F8
| 16,972,227 | null | null | null | null | null |
X
| 155,022,770 |
A
|
G
|
Pathogenic
|
OMIM
|
Promoter Mutations
| null | null | null | null | null | null |
MIM 306700
|
F8
| 24,372,689 | null | null | null | null | null |
X
| 155,022,771 |
G
|
A
|
Pathogenic
|
OMIM
|
5’ UTR Mutations
| null | null | null | null | null | null |
MIM 306700
|
F8
| 16,972,227 | null | null | null | null | null |
X
| 155,022,773 |
A
|
T
|
Pathogenic
|
OMIM
|
Promoter Mutations
| null | null | null | null | null | null |
MIM 306700
|
F8
| 24,372,689 | null | null | null | null | null |
X
| 155,022,807 |
T
|
C
|
Pathogenic
|
OMIM
|
Promoter Mutations
| null | null | null | null | null | null |
MIM 306700
|
F8
| 22,136,525 | null | null | null | null | null |
X
| 155,022,809 |
A
|
C
|
Pathogenic
|
OMIM
|
Promoter Mutations
| null | null | null | null | null | null |
MIM 306700
|
F8
| 19,422,439 | null | null | null | null | null |
X
| 155,260,871 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
218362
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,260,942 |
G
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
156532
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
X
| 155,264,287 |
A
|
G
|
Pathogenic
|
ClinVar
|
initiatior_codon_variant,missense_variant
|
489029
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,207 |
G
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
9752
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,224 |
T
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
9756
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,224 |
T
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
470196
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,267 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
9744
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,278 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
9738
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,287 |
T
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
9742
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,320 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
9755
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,321 |
C
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
9750
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,334 |
G
|
C
|
Pathogenic
|
ClinVar
|
missense_variant
|
9741
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,401 |
A
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
9746
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,412 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
9747
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,426 |
C
|
G
|
Pathogenic
|
ClinVar
|
missense_variant
|
9739
|
criteria_provided,_single_submitter
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,515 |
C
|
A
|
Pathogenic
|
ClinVar
|
missense_variant
|
492908
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,551 |
C
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
9754
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
Y
| 2,787,678 |
C
|
T
|
Pathogenic
|
OMIM
|
Enhancer Mutations
| null | null | null | null | null | null |
MIM 400044
|
SRY
| 9,452,083 | null | null | null | null | null |
Y
| 7,063,898 |
A
|
T
|
Pathogenic
|
ClinVar
|
missense_variant
|
625467
|
no_assertion_criteria_provided
| null | null | null | null | null | null | null | null | null | null | null | null |
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