chrom
stringclasses 24
values | pos
int64 47.1k
248M
| id
stringlengths 1
7
| ref
stringclasses 4
values | alt
stringclasses 4
values | clin_sig
stringclasses 2
values | review_status
stringclasses 5
values | consequence
stringclasses 71
values | CADD
float64 -12.41
2.86
| phyloP
float64 -10
20
| phastCons
float64 -1
-0
| ESM-1b
float64 -25.89
12.8
⌀ |
|---|---|---|---|---|---|---|---|---|---|---|---|
X
| 154,997,059 |
812076
|
T
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.79491 | -6.56 | -1 | -10.175 |
X
| 154,997,065 |
993612
|
A
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.390466 | -3.005 | -1 | -8.1 |
X
| 154,997,065 |
10165
|
A
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.546287 | -3.005 | -1 | -12.24 |
X
| 154,997,086 |
10164
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.366295 | -6.472 | -1 | -13.223 |
X
| 154,997,095 |
10163
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -4.106276 | -6.472 | -1 | -11.092 |
X
| 155,022,432 |
10156
|
C
|
A
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -1.733919 | 0.847 | -0 | -7.616 |
X
| 155,022,449 |
10352
|
T
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.242551 | -3.547 | -0.994 | -10.466 |
X
| 155,022,464 |
10154
|
T
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.099694 | -2.097 | -0.838 | -9.395 |
X
| 155,022,476 |
10153
|
A
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.793442 | -4.138 | -1 | -13.267 |
X
| 155,260,871 |
218362
|
C
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.404033 | -7.503 | -1 | -8.122 |
X
| 155,260,942 |
156532
|
G
|
T
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.851782 | -9.515 | -1 | -14.948 |
X
| 155,264,287 |
489029
|
A
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
initiatior_codon_variant,missense_variant
| -3.84664 | -5.799 | -1 | null |
X
| 155,900,534 |
721652
|
T
|
C
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant,non-coding_transcript_variant
| -1.569002 | -2.337 | -1 | -6.61 |
X
| 156,009,834 |
769193
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
missense_variant,synonymous_variant
| 0.198903 | 0.349 | -0 | -2.827 |
X
| 156,009,937 |
771064
|
G
|
A
|
Benign
|
criteria_provided,_single_submitter
|
3_prime_UTR_variant,missense_variant
| 0.389931 | 0.936 | -0 | -3.703 |
Y
| 2,787,207 |
9752
|
G
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.891511 | -0.519 | -0.973 | -13.203 |
Y
| 2,787,224 |
9756
|
T
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.728874 | -5.728 | -1 | -10.578 |
Y
| 2,787,224 |
470196
|
T
|
C
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -3.420757 | -5.728 | -1 | -10.232 |
Y
| 2,787,267 |
9744
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.708585 | -5.679 | -1 | -9.637 |
Y
| 2,787,278 |
9738
|
A
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.991749 | -3.839 | -1 | -11.871 |
Y
| 2,787,287 |
9742
|
T
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.909237 | -5.76 | -1 | -13.763 |
Y
| 2,787,320 |
9755
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.895614 | -5.679 | -1 | -11.593 |
Y
| 2,787,321 |
9750
|
C
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.999386 | -5.679 | -1 | -10.729 |
Y
| 2,787,334 |
9741
|
G
|
C
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.739265 | -4.195 | -1 | -11.027 |
Y
| 2,787,401 |
9746
|
A
|
G
|
Pathogenic
|
criteria_provided,_single_submitter
|
missense_variant
| -2.391004 | -6.626 | -1 | -8.12 |
Y
| 2,787,412 |
9747
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.35107 | -5.679 | -1 | -11.344 |
Y
| 2,787,426 |
9739
|
C
|
G
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -2.215825 | -5.679 | -1 | -9 |
Y
| 2,787,515 |
492908
|
C
|
A
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -1.614399 | 0.091 | -0 | -4.78 |
Y
| 2,787,551 |
9754
|
C
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -0.541464 | -0.675 | -0.989 | -4.299 |
Y
| 7,063,898 |
625467
|
A
|
T
|
Pathogenic
|
no_assertion_criteria_provided
|
missense_variant
| -3.594089 | -6.04 | -1 | -14.271 |
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