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df2_allele_freqs.txt
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df2_allele_freqs.txt
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PP IDs, variants, and corresponding allele freqs
PP0476
2: 179393124 G>A - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.001
PAGE_AF = 0.001543
SAS_AF = 0.001
2: 179499545 C>T - TTN (Park: lethal)
DDD_AF = 0.000366
MAX_AF = 0.0031
PAGE_AF = 0.001543
SAS_AF = 0.0031
2: 179500433 C>A - TTN (Park: lethal)
PAGE_AF = 0.001543
7: 100806344 T>G - VGF (Park: nondisease lethal)
No AF data
PP0531
15: 33916136 G>A - RYR3 (Park: nondisease nonlethal)
AMR_AF = 0.0014
DDD_AF = 0.001953
ESP_AF = 0.001
MAX_AF = 0.001953
PAGE_AF = 0.001543
15: 34130227 G>C - RYR3 (Park: nondisease nonlethal)
MAX_AF = 0.00013224
PAGE_AF = 0.001543
PP0473
17: 79991373 A>G - RAC3 (Park: nondisease lethal)
No AF data
PP0537
6: 56472580 A>T - DST (Park: lethal)
PAGE_AF = 0.001543
6: 56485496 C>G - DST (Park: lethal)
AMR_AF = 0.0043
DDD_AF = 0.006345
ESP_AF = 0.00454
MAX_AF = 0.00647977
PAGE_AF = 0.009259
6: 56569113 T>C - DST (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.002069
ESP_AF = 0.00145
MAX_AF = 0.002069
PAGE_AF = 0.004630
PP0354
16: 57937785 G>A - CNGB1 (Park: lethal)
PAGE_AF = 0.003086
2: 179418492 G>C - TTN (Park: lethal)
DDD_AF = 0.000366
MAX_AF = 0.0031
PAGE_AF = 0.001543
SAS_AF = 0.0031
2: 179424742 C>T - TTN (Park: lethal)
DDD_AF = 0.000366
MAX_AF = 0.0041
PAGE_AF = 0.001543
SAS_AF = 0.0041
2: 179479067 C>T - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.001543
2: 179610350 CT>C - TTN (Park: lethal)
PAGE_AF = 0.001543
PP0470
2: 179431774 A>G - TTN (Park: lethal)
DDD_AF = 0.000122
EUR_AF = 0.001
MAX_AF = 0.001
PAGE_AF = 0.003086
2: 179606335 A>ATG - TTN (Park: lethal)
PAGE_AF = 0.001543
PP0419
1: 39750998 A>C - MACF1 (Park: nondisease lethal)
PAGE_AF = 0.001543
1: 39783013 G>A - MACF1 (Park: nondisease lethal)
PAGE_AF = 0.001543
16: 51171424 G>A - SALL1 (Park: lethal)
No AF data
19: 46457139 TA>T - NOVA2 (Park: nondisease lethal)
No AF data
PP0165
17: 18152667 G>A - FLII (Park: nondisease lethal)
DDD_AF = 0.000966
ESP_AF = 0.00023
MAX_AF = 0.005
PAGE_AF = 0.001543
SAS_AF = 0.001
17: 18155814 T>C - FLII (Park: nondisease lethal)
PAGE_AF = 0.001543
PP0342
2: 233406191 C>CA - CHRNG (Park: lethal)
DDD_AF = 0.000966
ESP_AF = 0.0004
MAX_AF = 0.000966
PAGE_AF = 0.004630
2: 233408374 CCA>C - CHRNG (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.001543
PP0144
22: 50719544 C>T - PLXNB2 (Park: nondisease lethal)
No AF data
PP0297
1: 179308680 G>A - SOAT1 (Park: nondisease nonlethal)
No AF data
PP0372
14: 64498005 C>A - SYNE2 (Park: lethal)
PAGE_AF = 0.001543
14: 64682978 C>T - SYNE2 (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.003661
ESP_AF = 0.00161
MAX_AF = 0.00409944
PAGE_AF = 0.001543
SAS_AF = 0.001
16: 89849296 C>A - FANCA (Park: nonlethal)
No AF data
16: 89857932 C>G - FANCA (Park: nonlethal)
No AF data
3: 53783158 G>A - CACNA1D (Park: nondisease nonlethal)
PAGE_AF = 0.001543
3: 53842691 CCTT>C - CACNA1D (Park: nondisease nonlethal)
DDD_AF = 0.007586
ESP_AF = 0.00375
MAX_AF = 0.007586
PAGE_AF = 0.006173
PP0513
15: 75981893 G>A - CSPG4 (Park: nondisease nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.003086
2: 179414177 G>A - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.002897
ESP_AF = 0.00174
MAX_AF = 0.0072
PAGE_AF = 0.007716
SAS_AF = 0.0072
2: 179578034 C>T - TTN (Park: lethal)
DDD_AF = 0.000488
MAX_AF = 0.002
PAGE_AF = 0.001543
SAS_AF = 0.002
22: 50887003 G>A - SBF1 (Park: nondisease lethal)
No AF data
PP0594
17: 38975163 AGCC>A - KRT10 (Park: lethal)
DDD_AF = 0.000966
MAX_AF = 0.000966
PAGE_AF = 0.009259
17: 38975166 C>* - KRT10 (Park: lethal)
PAGE_AF = 0.009259
17: 38975172 C>T - KRT10 (Park: lethal)
No AF data
19: 36342198 C>G - NPHS1 (Park: lethal)
No AF data
5: 156916115 G>C - ADAM19 (Park: nondisease lethal)
No AF data
9: 113312222 T>C - SVEP1
No AF data
PP0312: SERPINA5 95054087>rs61761873 - TMED7,TMED7-TICAM2,TICAM2
DDD_AF = 0.000976
ESP_AF = 0.00046
MAX_AF = 0.0051
PAGE_AF = 0.004630
SAS_AF = 0.0051
PP0156
14: 65409347 A>G - GPX2 (Park: nondisease lethal)
No AF data
2: 50758415 G>A - NRXN1 (Park: lethal)
No AF data
3: 27431499 T>A - SLC4A7 (Park: nondisease nonlethal)
No AF data
9: 140772443 CG>C - CACNA1B (Park: nondisease nonlethal)
No AF data
9: 140772444 G>* - CACNA1B (Park: nondisease nonlethal)
No AF data
9: 35078230 G>T - FANCG (Park: nonlethal)
No AF data
PP0210
2: 179396782 C>G - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.007567
ESP_AF = 0.00623
MAX_AF = 0.0089
PAGE_AF = 0.004630
SAS_AF = 0.002
2: 179486037 C>A - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.007322
ESP_AF = 0.0061
MAX_AF = 0.008
PAGE_AF = 0.004630
SAS_AF = 0.002
2: 179582913 C>T - TTN (Park: lethal)
DDD_AF = 0.003051
ESP_AF = 0.00264
MAX_AF = 0.00343824
PAGE_AF = 0.003086
2: 179645962 C>G - TTN (Park: lethal)
DDD_AF = 0.004393
ESP_AF = 0.003
MAX_AF = 0.005
PAGE_AF = 0.003086
PP0099
2: 179478597 C>A - TTN (Park: lethal)
DDD_AF = 0.000488
ESP_AF = 0.00057
MAX_AF = 0.000661201
PAGE_AF = 0.001543
2: 179486223 C>T - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.007172
ESP_AF = 0.00667
PAGE_AF = 0.009259
SAS_AF = 0.0061
2: 179585312 G>A - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.006102
ESP_AF = 0.00655
MAX_AF = 0.008
PAGE_AF = 0.006173
PP0174
1: 115258748 C>G - NRAS (Park: lethal)
No AF data
PP0318
2: 179414177 G>A - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.002897
ESP_AF = 0.00174
MAX_AF = 0.0072
PAGE_AF = 0.007716
SAS_AF = 0.0072
2: 179428960 C>T - TTN (Park: lethal)
DDD_AF = 0.000610
ESP_AF = 0.00058
MAX_AF = 0.000610
PAGE_AF = 0.001543
2: 179549707 G>A - TTN (Park: lethal)
DDD_AF = 0.002069
ESP_AF = 0.00161
MAX_AF = 0.0031
PAGE_AF = 0.006173
SAS_AF = 0.0031
2: 233406191 C>CA - CHRNG (Park: lethal)
DDD_AF = 0.000966
ESP_AF = 0.0004
MAX_AF = 0.000966
PAGE_AF = 0.004630
PP0153
2: 179398591 T>C - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.001953
ESP_AF = 0.00092
MAX_AF = 0.004
PAGE_AF = 0.001543
2: 179610639 T>G - TTN (Park: lethal)
PAGE_AF = 0.001543
PP0576
2: 179404550 G>A - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002319
ESP_AF = 0.0029
MAX_AF = 0.0041
PAGE_AF = 0.007716
SAS_AF = 0.0041
2: 179439511 C>T - TTN (Park: lethal)
DDD_AF = 0.000138
EUR_AF = 0.001
MAX_AF = 0.001
PAGE_AF = 0.001543
2: 179567340 G>A - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002319
ESP_AF = 0.00299
PAGE_AF = 0.007716
SAS_AF = 0.0031
2: 179632598 C>T - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002929
ESP_AF = 0.00323
MAX_AF = 0.0051
PAGE_AF = 0.007716
SAS_AF = 0.0051
5: 1268697 C>T - TERT (Park: nonlethal)
DDD_AF = 0.000138
EAS_AF = 0.0079
MAX_AF = 0.0079
PAGE_AF = 0.001543
5: 1268700 C>T - TERT (Park: nonlethal)
AMR_AF = 0.0029
DDD_AF = 0.001831
ESP_AF = 0.00154
MAX_AF = 0.0051
PAGE_AF = 0.001543
SAS_AF = 0.0051
PP0428
12: 80182510 C>T - PPP1R12A (Park: nondisease lethal)
MAX_AF = 0.002
PAGE_AF = 0.004630
SAS_AF = 0.002
2: 179411522 G>A - TTN (Park: lethal)
PAGE_AF = 0.001543
2: 179467129 A>G - TTN (Park: lethal)
PAGE_AF = 0.001543
2: 179605212 C>T - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.001342
ESP_AF = 0.00098
MAX_AF = 0.001342
PAGE_AF = 0.003086
PP0333
16: 71418250 C>A - CALB2 (Park: nondisease nonlethal)
No AF data
19: 18967812 G>T - UPF1 (Park: nondisease lethal)
No AF data
3: 424301 T>C - CHL1 (Park: nonlethal)
No AF data
7: 38543298 C>A - AMPH (Park: nondisease lethal)
No AF data
8: 11566037 TG>T - GATA4 (Park: lethal)
No AF data
PP0312
12: 120650219 G>C - PXN (Park: nondisease lethal)
PAGE_AF = 0.003086
17: 79496095 C>T - FSCN2 (Park: nonlethal)
DDD_AF = 0.001931
ESP_AF = 0.00032
MAX_AF = 0.0041
PAGE_AF = 0.006173
SAS_AF = 0.0041
21: 46895431 G>C - COL18A1 (Park: nonlethal)
DDD_AF = 0.000276
MAX_AF = 0.0041
PAGE_AF = 0.003086
SAS_AF = 0.0041
2: 179435114 G>A - TTN (Park: lethal)
DDD_AF = 0.001103
MAX_AF = 0.0061
PAGE_AF = 0.003086
SAS_AF = 0.0061
2: 179486223 C>T - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.007172
ESP_AF = 0.00667
PAGE_AF = 0.009259
SAS_AF = 0.0061
4: 106863487 C>T - NPNT (Park: nondisease nonlethal)
DDD_AF = 0.000610
MAX_AF = 0.0061
PAGE_AF = 0.003086
SAS_AF = 0.0061
7: 101943869 CCCCGGTCCCAGT>C - SH2B2 (Park: nondisease nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.0041
PAGE_AF = 0.001543
SAS_AF = 0.0041
7: 101943876 C>* - SH2B2 (Park: nondisease nonlethal)
PAGE_AF = 0.001543
7: 101960960 C>T - SH2B2 (Park: nondisease nonlethal)
DDD_AF = 0.000276
MAX_AF = 0.0072
PAGE_AF = 0.001543
SAS_AF = 0.0072
PP0555
11: 102477309 C>T - MMP20 (Park: nonlethal)
AFR_AF = 0.0015
DDD_AF = 0.003172
EAS_AF = 0.001
ESP_AF = 0.00208
MAX_AF = 0.003172
PAGE_AF = 0.003086
SAS_AF = 0.001
12: 112037182 G>T - ATXN2 (Park: nonlethal)
PAGE_AF = 0.004630
15: 29346251 G>A - APBA2 (Park: nondisease lethal)
AMR_AF = 0.0014
DDD_AF = 0.006621
ESP_AF = 0.00384
MAX_AF = 0.0089
PAGE_AF = 0.009259
SAS_AF = 0.0041
19: 10473048 G>A - TYK2 (Park: lethal)
PAGE_AF = 0.001543
19: 10479069 G>A - TYK2 (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.001543
9: 137582841 C>T - COL5A1 (Park: lethal)
DDD_AF = 0.002069
ESP_AF = 0.00131
MAX_AF = 0.002069
PAGE_AF = 0.004630
SAS_AF = 0.001
PP0570
19: 1621907 TGAG>T - TCF3 (Park: nondisease lethal)
AMR_AF = 0.0014
DDD_AF = 0.003034
EAS_AF = 0.001
ESP_AF = 0.00216
MAX_AF = 0.003034
PAGE_AF = 0.004630
2: 179433643 G>C - TTN (Park: lethal)
DDD_AF = 0.000976
ESP_AF = 0.00114
MAX_AF = 0.00114
PAGE_AF = 0.004630
2: 179476841 C>T - TTN (Park: lethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_AF = 0.001543
PP0452
2: 179418306 C>T - TTN (Park: lethal)
DDD_AF = 0.001342
ESP_AF = 0.00067
MAX_AF = 0.001342
PAGE_AF = 0.001543
2: 179472319 C>T - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.002807
ESP_AF = 0.00226
MAX_AF = 0.003
PAGE_AF = 0.003086
SAS_AF = 0.001
2: 179593503 G>T - TTN (Park: lethal)
DDD_AF = 0.002685
EAS_AF = 0.003
ESP_AF = 0.00159
MAX_AF = 0.005
PAGE_AF = 0.004630
PP0187
7: 80293737 G>C - CD36 (Park: nonlethal)
DDD_AF = 0.000488
ESP_AF = 0.00015
MAX_AF = 0.000488
PAGE_AF = 0.001543
7: 80300474 A>G - CD36 (Park: nonlethal)
DDD_AF = 0.000414
MAX_AF = 0.000414
PAGE_AF = 0.001543
PP0087
11: 103057046 C>T - DYNC2H1 (Park: nondisease lethal)
PAGE_AF = 0.001543
11: 103060543 C>T - DYNC2H1 (Park: nondisease lethal)
DDD_AF = 0.000122
MAX_AF = 0.00013224
PAGE_AF = 0.001543
PP0315
17: 62022122 A>G - SCN4A
PAGE_AF = 0.003086
2: 179581845 C>A - TTN (Park: lethal)
DDD_AF = 0.000276
MAX_AF = 0.001
PAGE_AF = 0.001543
SAS_AF = 0.001
2: 179590229 A>G - TTN (Park: lethal)
PAGE_AF = 0.001543
8: 37823278 AAGCGC>A - ADRB3 (Park: nonlethal)
DDD_AF = 0.000244
PAGE_AF = 0.003086
PP0393
19: 13397467 C>T - CACNA1A (Park: lethal)
PAGE_AF = 0.001543
19: 13409852 G>C - CACNA1A (Park: lethal)
PAGE_AF = 0.001543
PP0273
1: 245766015 A>G - KIF26B
AMR_AF = 0.0029
DDD_AF = 0.003172
ESP_AF = 0.00207
MAX_AF = 0.00370272
PAGE_AF = 0.001543
1: 245851740 C>T - KIF26B
AFR_AF = 0.0008
DDD_AF = 0.000414
MAX_AF = 0.002
PAGE_AF = 0.001543
SAS_AF = 0.002
PP0258
2: 179499464 A>G - TTN (Park: lethal)
MAX_AF = 0.00013224
PAGE_AF = 0.001543
2: 179559353 C>T - TTN (Park: lethal)
DDD_AF = 0.002621
ESP_AF = 0.00215
MAX_AF = 0.00343824
PAGE_AF = 0.009259
2: 179582760 T>C - TTN (Park: lethal)
DDD_AF = 0.004638
ESP_AF = 0.00571
MAX_AF = 0.00819889
PAGE_AF = 0.007716
2: 179598553 T>G - TTN (Park: lethal)
DDD_AF = 0.002069
ESP_AF = 0.00164
MAX_AF = 0.00290928
PAGE_AF = 0.003086
2: 179615278 A>G - TTN (Park: lethal)
DDD_AF = 0.002621
ESP_AF = 0.00223
MAX_AF = 0.00409944
PAGE_AF = 0.009259
PP0231
2: 179474150 C>T - TTN (Park: lethal)
DDD_AF = 0.000138
ESP_AF = 0.00033
MAX_AF = 0.00033
PAGE_AF = 0.001543
2: 179486223 C>T - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.007172
ESP_AF = 0.00667
PAGE_AF = 0.009259
SAS_AF = 0.0061
2: 179585312 G>A - TTN (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.006102
ESP_AF = 0.00655
MAX_AF = 0.008
PAGE_AF = 0.006173
PP0090
19: 49129341 G>A - SPHK2 (Park: nondisease nonlethal)
DDD_AF = 0.001098
ESP_AF = 0.00054
MAX_AF = 0.001098
PAGE_AF = 0.001543
19: 49132795 G>C - SPHK2 (Park: nondisease nonlethal)
PAGE_AF = 0.001543
PP0497
6: 56357740 C>T - DST (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.000854
ESP_AF = 0.00033
MAX_AF = 0.000854
PAGE_AF = 0.001543
6: 56485496 C>G - DST (Park: lethal)
AMR_AF = 0.0043
DDD_AF = 0.006345
ESP_AF = 0.00454
MAX_AF = 0.00647977
PAGE_AF = 0.009259
7: 128481578 A>C - FLNC (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.004760
ESP_AF = 0.00401
MAX_AF = 0.005
PAGE_AF = 0.006173
SAS_AF = 0.0031
7: 128497246 T>A - FLNC (Park: lethal)
DDD_AF = 0.009519
ESP_AF = 0.00114
MAX_AF = 0.009519
PAGE_AF = 0.007716
PP0573
15: 56208651 C>G - NEDD4 (Park: nondisease lethal)
No AF data
2: 179593503 G>T - TTN (Park: lethal)
DDD_AF = 0.002685
EAS_AF = 0.003
ESP_AF = 0.00159
MAX_AF = 0.005
PAGE_AF = 0.004630
2: 179597242 C>A - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.000552
ESP_AF = 0.00092
MAX_AF = 0.0014
PAGE_AF = 0.001543
PP0425
16: 58201600 C>T - CSNK2A2 (Park: nondisease nonlethal)
No AF data
3: 62254810 G>A - PTPRG (Park: nondisease nonlethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.001543
3: 62263311 A>G - PTPRG (Park: nondisease nonlethal)
DDD_AF = 0.001220
ESP_AF = 0.00046
MAX_AF = 0.001220
PAGE_AF = 0.001543
3: 62268528 A>G - PTPRG (Park: nondisease nonlethal)
DDD_AF = 0.000610
ESP_AF = 0.00015
MAX_AF = 0.001
PAGE_AF = 0.001543
PP0357
3: 129279207 G>A - PLXND1 (Park: nondisease lethal)
No AF data
PP0336
2: 179424425 T>C - TTN (Park: lethal)
AFR_AF = 0.0038
ESP_AF = 0.00056
MAX_AF = 0.0038
PAGE_AF = 0.001543
2: 179518979 A>G - TTN (Park: lethal)
DDD_AF = 0.000854
PAGE_AF = 0.001543
PP0528
2: 160604781 G>A - MARCH7 (Park: nondisease nonlethal)
DDD_AF = 0.001953
ESP_AF = 0.00085
MAX_AF = 0.001953
PAGE_AF = 0.004630
2: 160605246 C>G - MARCH7 (Park: nondisease nonlethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_AF = 0.001543
PP0546
6: 160553317 G>A - SLC22A1 (Park: nonlethal)
MAX_AF = 0.00013224
PAGE_AF = 0.001543
6: 160560864 G>C - SLC22A1 (Park: nonlethal)
DDD_AF = 0.000552
MAX_AF = 0.002
PAGE_AF = 0.001543
SAS_AF = 0.002
PP0390
2: 179397097 G>A - TTN (Park: lethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_AF = 0.001543
2: 179400061 G>A - TTN (Park: lethal)
DDD_AF = 0.000244
MAX_AF = 0.00026448
PAGE_AF = 0.001543
PP0291
11: 1090912 CACCATCACCCTCCCCACCACCCCCACCACCTTCACCACT>C - MUC2 (Park: nonlethal)
PAGE_AF = 0.001543
11: 1090923 T>* - MUC2 (Park: nonlethal)
PAGE_AF = 0.001543
11: 1090933 C>* - MUC2 (Park: nonlethal)
PAGE_AF = 0.001543
11: 1097784 G>A - MUC2 (Park: nonlethal)
DDD_AF = 0.000276
ESP_AF = 0.00039
MAX_AF = 0.00039
PAGE_AF = 0.001543
15: 35084633 G>A - ACTC1 (Park: lethal)
No AF data
PP0300
12: 121434140 T>C - HNF1A (Park: nondisease lethal)
No AF data
PP0327
10: 61834418 A>G - ANK3 (Park: nondisease lethal)
No AF data
3: 10401603 T>C - ATP2B2 (Park: nonlethal)
No AF data
PP0186
2: 179419452 A>G - TTN (Park: lethal)
PAGE_AF = 0.001543
2: 179441295 T>C - TTN (Park: lethal)
AMR_AF = 0.0086
DDD_AF = 0.007933
ESP_AF = 0.00659
MAX_AF = 0.0086
PAGE_AF = 0.004630
SAS_AF = 0.0031
2: 179482089 C>T - TTN (Park: lethal)
AFR_AF = 0.0008
DDD_AF = 0.007567
ESP_AF = 0.00656
MAX_AF = 0.0086
PAGE_AF = 0.004630
SAS_AF = 0.002
2: 179545815 C>T - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.001
PAGE_AF = 0.001543
SAS_AF = 0.001
PP0185
2: 179464457 T>C - TTN (Park: lethal)
MAX_AF = 0.00013224
PAGE_AF = 0.001543
2: 179584104 C>G - TTN (Park: lethal)
DDD_AF = 0.000244
MAX_AF = 0.000244
PAGE_AF = 0.001543
PP0500
21: 46310077 C>G - ITGB2 (Park: lethal)
PAGE_AF = 0.001543
21: 46326999 C>T - ITGB2 (Park: lethal)
DDD_AF = 0.000366
MAX_AF = 0.000366
PAGE_AF = 0.001543
PP0183
10: 35495907 G>C - CREM (Park: nondisease nonlethal)
No AF data
12: 48258905 T>C - VDR (Park: lethal)
No AF data
13: 111917869 AGGT>A - ARHGEF7
No AF data
18: 47810764 T>C - CXXC1 (Park: nondisease lethal)
No AF data
22: 51065764 G>A - ARSA (Park: nonlethal)
No AF data
PP0181
4: 169847387 A>G - PALLD (Park: lethal)
No AF data
PP0540
10: 123243268 T>C - FGFR2 (Park: lethal)
No AF data
10: 94449816 C>CA - HHEX (Park: lethal)
No AF data
12: 58144466 C>G - CDK4 (Park: lethal)
No AF data
16: 75665702 G>A - KARS
No AF data
17: 3445897 G>A - TRPV3 (Park: nondisease nonlethal)
No AF data
19: 16799057 CACG>C - TMEM38A (Park: nondisease lethal)
AMR_AF = 0.0043
DDD_AF = 0.009885
ESP_AF = 0.00982
MAX_AF = 0.009885
PAGE_AF = 0.006173
2: 21230271 C>T - APOB (Park: lethal)
No AF data
22: 50900661 C>T - SBF1 (Park: nondisease lethal)
No AF data
2: 73659380 C>T - ALMS1 (Park: nonlethal)
No AF data
6: 170871013 A>ACAGCAGCAG - TBP (Park: lethal)
DDD_AF = 0.001587
MAX_AF = 0.001587
PP0285
17: 41243509 T>C - BRCA1 (Park: lethal)
AMR_AF = 0.0029
DDD_AF = 0.009275
ESP_AF = 0.00484
MAX_AF = 0.009275
PAGE_AF = 0.009259
17: 41245233 A>G - BRCA1 (Park: lethal)
DDD_AF = 0.000690
ESP_AF = 0.00015
MAX_AF = 0.000690
PAGE_AF = 0.003086
PP0360
17: 62026805 C>A - SCN4A
No AF data
18: 7008517 A>T - LAMA1 (Park: nondisease lethal)
PAGE_AF = 0.001543
18: 7032153 C>T - LAMA1 (Park: nondisease lethal)
DDD_AF = 0.003539
EAS_AF = 0.001
ESP_AF = 0.00246
MAX_AF = 0.005
PAGE_AF = 0.003086
4: 81967675 C>T - BMP3 (Park: nondisease nonlethal)
No AF data
PP0507
10: 15614323 C>T - ITGA8 (Park: nondisease lethal)
DDD_AF = 0.000414
MAX_AF = 0.000414
PAGE_AF = 0.001543
10: 15655740 G>A - ITGA8 (Park: nondisease lethal)
PAGE_AF = 0.001543
PP0549
1: 169677918 A>G - SELL (Park: nonlethal)
No AF data
9: 125145926 G>A - PTGS1 (Park: lethal)
No AF data
PP0184
15: 96877607 T>C - NR2F2 (Park: nondisease lethal)
No AF data
PP0204
2: 179482763 C>T - TTN (Park: lethal)
AMR_AF = 0.0043
DDD_AF = 0.003173
ESP_AF = 0.00344
MAX_AF = 0.0043
PAGE_AF = 0.003086
SAS_AF = 0.002
2: 179594107 G>C - TTN (Park: lethal)
AMR_AF = 0.0014
DDD_AF = 0.003051
ESP_AF = 0.00338
MAX_AF = 0.00338
PAGE_AF = 0.003086
SAS_AF = 0.001
2: 179645962 C>G - TTN (Park: lethal)
DDD_AF = 0.004393
ESP_AF = 0.003
MAX_AF = 0.005
PAGE_AF = 0.003086
PP0582
15: 68619101 C>T - ITGA11 (Park: lethal)
No AF data
9: 95179071 G>A - OMD (Park: nondisease nonlethal)
AFR_AF = 0.0015
DDD_AF = 0.003539
ESP_AF = 0.00285
MAX_AF = 0.006
PAGE_AF = 0.009259
9: 95179747 C>G - OMD (Park: nondisease nonlethal)
PAGE_AF = 0.001543
PP0126
7: 17375352 C>T - AHR (Park: nondisease lethal)
PAGE_AF = 0.001543
7: 17378731 C>T - AHR (Park: nondisease lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.001543
PP0207
2: 179455208 G>T - TTN (Park: lethal)
DDD_AF = 0.000138
MAX_AF = 0.000138
PAGE_AF = 0.001543
2: 179639041 C>T - TTN (Park: lethal)
PAGE_AF = 0.001543
6: 143095041 T>C - HIVEP2 (Park: nondisease nonlethal)
No AF data
PP0147
3: 51669688 AG>A - RAD54L2 (Park: nondisease lethal)
No AF data
17
rs11078458: T 1334320>PASS - 3445901
AFR_AF = 0.2731
DDD_AF = 0.606621
EAS_AF = 0.746
ESP_AF = 0.51469
MAX_AF = 0.746
PAGE_AF = 0.618827
SAS_AF = 0.6922
PP0585
9: 35792899 G>C - NPR2 (Park: lethal)
No AF data
PP0449
2: 179483201 G>A - TTN (Park: lethal)
PAGE_AF = 0.001543
2: 179582760 T>C - TTN (Park: lethal)
DDD_AF = 0.004638
ESP_AF = 0.00571
MAX_AF = 0.00819889
PAGE_AF = 0.007716
9: 100617299 G>A - FOXE1 (Park: lethal)
No AF data
PP0461
4: 119953142 G>T - SYNPO2
DDD_AF = 0.000276
ESP_AF = 0.00015
MAX_AF = 0.000276
PAGE_AF = 0.001543
4: 119978770 T>C - SYNPO2
PAGE_AF = 0.001543
PP0567
12: 110764261 A>G - ATP2A2 (Park: lethal)
No AF data
PP0306
15: 91450541 T>C - MAN2A2 (Park: nondisease nonlethal)
No AF data
PP0561
1: 236195734 G>C - NID1 (Park: nondisease nonlethal)
PAGE_AF = 0.001543
1: 236201523 G>A - NID1 (Park: nondisease nonlethal)
DDD_AF = 0.000610
ESP_AF = 0.00031
MAX_AF = 0.0031
PAGE_AF = 0.001543
SAS_AF = 0.0031
1: 236212186 T>G - NID1 (Park: nondisease nonlethal)
PAGE_AF = 0.001543
PP0443
2: 179407159 C>A - TTN (Park: lethal)
PAGE_AF = 0.001543
2: 179477175 C>T - TTN (Park: lethal)
MAX_AF = 0.001
PAGE_AF = 0.001543
SAS_AF = 0.001
PP0303
2: 175614789 T>C - CHRNA1
PAGE_AF = 0.001543
2: 175619069 G>T - CHRNA1
PAGE_AF = 0.001543
11
rs658804: A 857242>PASS - 103057048
AFR_AF = 0.4985
DDD_AF = 0.607448
EAS_AF = 0.5526
ESP_AF = 0.59755
MAX_AF = 0.67
PAGE_AF = 0.581790
SAS_AF = 0.5675
PP0267
1: 156815568 C>A - INSRR (Park: nondisease lethal)
DDD_AF = 0.000244
MAX_AF = 0.0072
PAGE_AF = 0.003086
SAS_AF = 0.0072
1: 15894604 T>C - DNAJC16
No AF data
13: 32914723 G>C - BRCA2 (Park: lethal)
DDD_AF = 0.000122
MAX_AF = 0.001
PAGE_AF = 0.003086
SAS_AF = 0.001
1: 36216977 TTCC>T - CLSPN
DDD_AF = 0.000366
ESP_AF = 0.00479
MAX_AF = 0.00479
PAGE_AF = 0.003086
1: 39775990 A>C - MACF1 (Park: nondisease lethal)
PAGE_AF = 0.003086
1: 41303392 G>A - KCNQ4 (Park: nonlethal)
PAGE_AF = 0.003086
14: 70515585 G>A - SLC8A3 (Park: nondisease nonlethal)
DDD_AF = 0.000122
MAX_AF = 0.000122
PAGE_AF = 0.003086
7: 100849656 G>T - PLOD3 (Park: nondisease lethal)
PAGE_AF = 0.003086
7: 83634752 T>C - SEMA3A (Park: nondisease lethal)
DDD_AF = 0.000122
PAGE_AF = 0.003086
PP0488
2: 207310170 A>G - ADAM23 (Park: nondisease lethal)
AMR_AF = 0.0072
DDD_AF = 0.003539
ESP_AF = 0.00254
MAX_AF = 0.0072
PAGE_AF = 0.006173
SAS_AF = 0.001
PP0243
2: 179396051 T>A - TTN (Park: lethal)
PAGE_AF = 0.001543
2: 179578891 T>C - TTN (Park: lethal)