Supplementary Table S8. Disease-Causing Variants in Pancreatitis and Hypothyroidism From The Chinamap

Supplementary Table S8.
Disease-causing variants in pancreatitis and hypothyro

Disease CHROM POS rsID Gene REF
Pancreatitis chr5 147828020 rs148954387 SPINK1 A
Hypothyroidism chr7 107683453 rs111033313 SLC26A4 A
Hypothyroidism chr7 107690200 rs111033305 SLC26A4 G
Hypothyroidism chr7 107690203 rs111033220 SLC26A4 C
Hypothyroidism chr8 109087561 rs121917847 TRHR C
Hypothyroidism chr8 132886719 rs776553164 TG CT
Hypothyroidism chr8 132886719 rs776553164 TG C
Hypothyroidism chr8 132966698 rs374620255 TG G
Hypothyroidism chr8 133133591 NA TG C
Hypothyroidism chr14 81143407 rs189261858 TSHR G
Hypothyroidism chr14 81143613 rs756016910 TSHR C
Hypothyroidism chr15 45099736 rs748194265 DUOX2 AG
Hypothyroidism chr15 45099736 rs748194265 DUOX2 A
Hypothyroidism chr15 45099748 rs368488511 DUOX2 C
Hypothyroidism chr15 45106601 rs769258094 DUOX2 GC
Hypothyroidism chr15 45106601 rs769258094 DUOX2 G
Hypothyroidism chr15 45107450 rs180671269 DUOX2 T
Hypothyroidism chr15 45111496 rs567500345 DUOX2 TC
Hypothyroidism chr15 45116587 rs778410503 DUOXA2 T
Hypothyroidism chr15 45117274 rs4774518 DUOXA2 C
AFR: African/African American
AMR: Admixed American
ASJ: Ashkenazi Jewish
EAS: East Asian
FIN: Finnish
NFE: Non-Finnish European
OTH: population not assigned in gnomAD
reatitis and hypothyroidism from the ChinaMAP
ALT Function Transcript Population AC AF AN
G splice_donor_NM_003122.4ChinaMAP 114 0.005383 21176
G splice_donor_NM_003122.4 gnomAD 82 0.00029851 274698
- - - AFR 0 0 23960
G splice_donor_NM_003122.4 AMR 1 2.91647E-05 34288
- - - ASJ 0 0 10082
G splice_donor_NM_003122.4 EAS 63 0.00336826 18704
- - - FIN 0 0 25392
G splice_donor_NM_003122.4 NFE 14 0.00011167 125368
G splice_donor_NM_003122.4 OTH 1 0.00015586 6416
G splice_donor_NM_003122.4 TOPMed 49 0.00039023 125568
G splice_acceptNM_000441.1ChinaMAP 129 0.006235 21176
G splice_acceptNM_000441.1 gnomAD 93 0.00033597 276808
- - - AFR 0 0 24018
- - - AMR 0 0 34374
- - - ASJ 0 0 10146
G splice_acceptNM_000441.1 EAS 91 0.00482503 18860
- - - FIN 0 0 25778
G splice_acceptNM_000441.1 NFE 2 1.58E-05 126406
- - - OTH 0 0 6450
G splice_acceptNM_000441.1 TOPMed 65 0.00051765 125568
A missense_variNM_000441.1ChinaMAP 4 0.0001744 21176
A,C - - gnomAD
9.76407111136827e-05,7.2326452676802e-06
27,2 276524
- - - AFR 0 0 24024
A missense_variNM_000441.1 AMR 7 0.00020357 34386
- - - ASJ 0 0 10136
- - - EAS 0 0 18856
- - - FIN 0 0 25782
A missense_variNM_000441.1 NFE 17 0.00013481 126108
- - - OTH 0 0 6450
A missense_variNM_000441.1 TOPMed 11 8.76E-05 125568
T missense_variNM_000441.1ChinaMAP 10 0.0004361 21176
T,G - - gnomAD
0.000184413781133385,3.61595649281148e-06
51,1 276552
- - - AFR 0 0 24030
T,G - - AMR
0.000116326411911825,2.90816029779561e-05
4,1 34386
- - - ASJ 0 0 10134
T missense_variNM_000441.1 EAS 7 0.00037123 18856
T missense_variNM_000441.1 FIN 3 0.00011633 25788
T missense_variNM_000441.1 NFE 16 0.00012686 126122
T missense_variNM_000441.1 OTH 2 0.00030989 6454
T missense_variNM_000441.1 TOPMed 8 6.37E-05 125568
G missense_variNM_000441.1ChinaMAP 27 0.001264 21176
G missense_variNM_000441.1 gnomAD 31 0.00011189 277048
- - - AFR 0 0 24036
- - - AMR 0 0 34374
- - - ASJ 0 0 10150
G missense_variNM_000441.1 EAS 31 0.00164299 18868
- - - FIN 0 0 25788
- - - NFE 0 0 126598
- - - OTH 0 0 6456
G missense_variNM_000441.1 TOPMed 8 6.37E-05 125568
T stop_gained NM_003301.5ChinaMAP 1 4.36E-05 21176
T stop_gained NM_003301.5 gnomAD 8 3.25E-05 246054
- - - AFR 0 0 15302
- - - AMR 0 0 33556
- - - ASJ 0 0 9846
T stop_gained NM_003301.5 EAS 2 0.00011596 17248
T stop_gained NM_003301.5 FIN 2 8.97E-05 22300
T stop_gained NM_003301.5 NFE 3 2.69E-05 111542
T stop_gained NM_003301.5 OTH 1 0.00018255 5478
T stop_gained NM_003301.5 TOPMed 1 7.96E-06 125568
C frameshift_vaNM_003235.4:ChinaMAP 3 0.0001308 21176
C frameshift_vaNM_003235.4:gnomAD 14 5.05E-05 276990
- - - AFR 0 0 24018
- - - AMR 0 0 34418
- - - ASJ 0 0 10144
C frameshift_vaNM_003235.4: EAS 14 0.00074263 18852
- - - FIN 0 0 25790
- - - NFE 0 0 126534
- - - OTH 0 0 6462
C frameshift_vaNM_003235.4:TOPMed 8 6.37E-05 125568
A,T - - gnomAD
4.06437977564624e-06,1.62575191025849e-05
1,4 246040
- - - AFR 0 0 15282
- - - AMR 0 0 33574
- - - ASJ 0 0 9840
A,T - - EAS
5.80113702285648e-05,0.000174034110685694
1,3 17238
- - - FIN 0 0 22296
T stop_gained NM_003235.4 NFE 1 8.96E-06 111548
- - - OTH 0 0 5486
T,G - - gnomAD
9.3828265404075e-05,3.60877943861827e-06
26,1 277102
T stop_gained NM_003235.4 AFR 2 8.33E-05 24022
T stop_gained NM_003235.4 AMR 2 5.81E-05 34416
- - - ASJ 0 0 10142
T stop_gained NM_003235.4 EAS 1 5.30E-05 18864
- - - FIN 0 0 25786
T stop_gained NM_003235.4 NFE 19 0.00015005 126628
- - - OTH 0 0 6464
A splice_donor_NM_003235.4ChinaMAP 3 0.0001308 21176
A,T - - gnomAD
4.07807058324565e-06,8.15614116649131e-06
1,2 245214
- - - AFR 0 0 15292
T splice_donor_NM_003235.4 AMR 2 5.96E-05 33540
- - - ASJ 0 0 9814
- - - EAS 0 0 17230
- - - FIN 0 0 22222
A splice_donor_NM_003235.4 NFE 1 9.02E-06 110872
- - - OTH 0 0 5466
A,T - - TOPMed 3,2
2.38914e-05,1.59276e-05
125568
A missense_variNM_003235.4ChinaMAP 1 4.36E-05 21176
A missense_variNM_003235.4 gnomAD 1 4.06E-06 246252
- - - AFR 0 0 15304
- - - AMR 0 0 33582
- - - ASJ 0 0 9850
- - - EAS 0 0 17248
- - - FIN 0 0 22300
A missense_variNM_003235.4 NFE 1 8.95E-06 111700
- - - OTH 0 0 5486
- - - AFR 0 0 15278
- - - AMR 0 0 33572
- - - ASJ 0 0 9840
- - - EAS 0 0 17238
- - - FIN 0 0 22280
- - - OTH 0 0 5470
T stop_gained NM_003235.4 AFR 1 4.16E-05 24032
- - - AMR 0 0 34420
- - - ASJ 0 0 10146
T stop_gained NM_003235.4 EAS 1 5.30E-05 18852
- - - FIN 0 0 25790
- - - NFE 0 0 126622
- - - OTH 0 0 6468
A missense_variNM_000369.2ChinaMAP 34 0.00157 21176
A,T - - gnomAD
0.000216467396402312,3.60778994003853e-06
60,1 277178
T missense_variNM_000369.2 AFR 1 4.16E-05 24032
A missense_variNM_000369.2 AMR 3 8.72E-05 34420
- - - ASJ 0 0 10152
A missense_variNM_000369.2 EAS 49 0.00259699 18868
A missense_variNM_000369.2 FIN 1 3.88E-05 25794
- - - OTH 0 0 6462
A missense_variNM_000369.2 TOPMed 22 0.0001752 125568
T missense_variNM_000369.2ChinaMAP 1 4.36E-05 21176
T missense_variNM_000369.2 gnomAD 5 1.81E-05 276942
T missense_variNM_000369.2 AFR 1 4.16E-05 24024
- - - AMR 0 0 34418
- - - ASJ 0 0 10150
- - - FIN 0 0 25636
- - - NFE 0 0 126622
- - - OTH 0 0 6460
T missense_variNM_000369.2 TOPMed 2 1.59E-05 125568
A frameshift_vaNM_014080.4:ChinaMAP 1 4.36E-05 21176
A frameshift_vaNM_014080.4:gnomAD 4 1.62E-05 246268
- - - AFR 0 0 15304
- - - AMR 0 0 33582
- - - ASJ 0 0 9850
A frameshift_vaNM_014080.4: EAS 4 0.00023191 17248
- - - FIN 0 0 22300
- - - NFE 0 0 111716
- - - OTH 0 0 5486
A frameshift_vaNM_014080.4:TOPMed 1 7.96E-06 125568
T missense_variNM_014080.4 gnomAD 53 0.00019119 277206
- - - AFR 0 0 24018
T missense_variNM_014080.4 AMR 1 2.91E-05 34420
- - - ASJ 0 0 10152
- - - FIN 0 0 25792
T missense_variNM_014080.4 NFE 3 2.37E-05 126704
- - - OTH 0 0 6468
G,T - - TOPMed 1,36
7.96381e-06,0.000286697
125568
T stop_gained NM_014080.4ChinaMAP 12 0.0005232 21176
- - - AFR 0 0 15300
- - - AMR 0 0 33580
- - - ASJ 0 0 9848
T stop_gained NM_014080.4 EAS 5 0.00028989 17248
- - - FIN 0 0 22286
- - - NFE 0 0 111678
- - - OTH 0 0 5484
G frameshift_vaNM_014080.4:ChinaMAP 6 0.0003488 21176
G frameshift_vaNM_014080.4:gnomAD 8 3.25E-05 246238
- - - AFR 0 0 15304
- - - AMR 0 0 33582
- - - ASJ 0 0 9850
G frameshift_vaNM_014080.4: EAS 8 0.00046382 17248
- - - FIN 0 0 22300
- - - NFE 0 0 111686
- - - OTH 0 0 5486
G,AC - - TOPMed 5,1
3.98191e-05,7.96381e-06
125568
A stop_gained NM_014080.4ChinaMAP 164 0.008023 21176
A,C - - gnomAD
0.00063488856984135,3.60732141955312e-06
176,1 277214
- - - AFR 0 0 24036
- - - AMR 0 0 34420
- - - ASJ 0 0 10152
A stop_gained NM_014080.4 EAS 175 0.00927398 18870
- - - FIN 0 0 25788
- - - NFE 0 0 126698
A,C - - OTH
0.00015460729746444,0.00015460729746444
1,1 6468
A stop_gained NM_014080.4 TOPMed 92 0.00073267 125568
T,G - - gnomAD
0.000151518431134873,3.60758169368745e-06
42,1 277194
T missense_variNM_014080.4 AFR 13 0.00054113 24024
- - - AMR 0 0 34420
- - - ASJ 0 0 10150
- - - FIN 0 0 25788
T missense_variNM_014080.4 NFE 5 3.95E-05 126698
G missense_variNM_014080.4 OTH 1 0.0001547 6464
T missense_variNM_014080.4 TOPMed 40 0.00031855 125568
A missense_variNM_014080.4 AFR 5 0.00020811 24026
A missense_variNM_014080.4 AMR 1 2.91E-05 34420
- - - ASJ 0 0 10152
- - - EAS 0 0 18868
- - - FIN 0 0 25794
A missense_variNM_014080.4 OTH 2 0.00030931 6466
A,T - - TOPMed 12,1
9.55657e-05,7.96381e-06
125568
A stop_gained NM_014080.4ChinaMAP 4 0.0001744 21176
A stop_gained NM_014080.4 gnomAD 6 2.16E-05 277206
- - - AFR 0 0 24024
- - - AMR 0 0 34418
- - - ASJ 0 0 10150
A stop_gained NM_014080.4 EAS 6 0.00031797 18870
- - - FIN 0 0 25794
- - - NFE 0 0 126702
- - - OTH 0 0 6468
A stop_gained NM_014080.4 TOPMed 3 2.39E-05 125568
TC frameshift_vaNM_014080.4ChinaMAP 4 0.0001745 21170
AC,TCC,T
- - 1.41426712677491e-05,0.000784918255360072,7.07133563387453e
gnomAD 2,111,1 141416
TC frameshift_vaNM_014080.4 AFR 1 0.00015202 6578
TC frameshift_vaNM_014080.4 AMR 13 0.00054059 24048
- - - ASJ 0 0 7856
T frameshift_vaNM_014080.4: EAS 1 9.59E-05 10424
TC frameshift_vaNM_014080.4 FIN 2 0.0001514 13210
AC,TCC,T
- - NFE
3.79190050053087e-05,0.00145988169270438,0
2,77,0 52744
TC frameshift_vaNM_014080.4 OTH 1 0.00027071 3694
TC frameshift_vaNM_014080.4 TOPMed 105 0.0008362 125568
TA frameshift_vaNM_207581.3ChinaMAP 46 0.00218 21176
C,TA - - gnomAD
6.13364121806899e-05,0.000230913551739068
17,64 277160
- - - AFR 0 0 24014
- - - AMR 0 0 34418
- - - ASJ 0 0 10152
TA frameshift_vaNM_207581.3 EAS 64 0.00339163 18870
- - - FIN 0 0 25790
C missense_variNM_207581.3 NFE 1 7.89E-06 126674
- - - OTH 0 0 6460
TA frameshift_vaNM_207581.3 TOPMed 12 9.56E-05 125568
T,G NAstop_gainNM_207581.3ChinaMAP 1186,760.056,0.003314 21176
T,G - - gnomAD
0.0162167447667903,0.00012410774056217
4312,33 265898
T NA NA AFR 233 0.01009882 23072
T NA NA AMR 1262 0.03721616 33910
T NA NA ASJ 26 0.00265957 9776
T,G - - EAS0.0546020167346063,0.00171636987770865
1018,32 18644
T NA NA FIN 216 0.00927676 23284
T,G - - NFE
0.0100044574315289,8.25450283129447e-06
1212,1 121146
T NA NA OTH 101 0.0161859 6240
T,G - - TOPMed 2005,19 0.0159674,0.000151312
125568
Genotype information
AG (1.0578%);AA (98.9328%);GG (0.0094%)
AA (99.9403%);AG (0.0597%)
AA (100%)
AA (99.9942%);AG (0.0058%)
AA (100%)
AA (99.3263%);AG (0.6737%)
AA (100%)
AA (99.9777%);AG (0.0223%)
AA (99.9688%);AG (0.0312%)
AA (99.9251%);AG (0.0749%)
AG (1.2184%);AA (98.7816%)
AA (99.9328%);AG (0.0672%)
AA (100%)
AA (100%)
AA (100%)
AA (99.0350%);AG (0.9650%)
AA (100%)
AA (99.9968%);AG (0.0032%)
AA (100%)
AA (99.8965%);AG (0.1035%)
GA (0.0378%);GG (99.9622%)
multiple_allele
GG (100%)
GG (99.9593%);GA (0.0407%)
GG (100%)
GG (100%)
GG (100%)
GG (99.9730%);GA (0.0270%)
GG (100%)
GG (99.9825%);GA (0.0175%)
CC (99.9056%);CT (0.0944%)
multiple_allele
CC (100%)
multiple_allele
CC (100%)
CC (99.9258%);CT (0.0742%)
CC (99.9767%);CT (0.0233%)
CC (99.9746%);CT (0.0254%)
CC (99.9380%);CT (0.0620%)
CC (99.9873%);CT (0.0127%)
AG (0.2550%);AA (99.7450%)
AA (99.9776%);AG (0.0224%)
AA (100%)
AA (100%)
AA (100%)
AA (99.6714%);AG (0.3286%)
AA (100%)
AA (100%)
AA (100%)
AA (99.9873%);AG (0.0127%)
CC (99.9906%);CT (0.0094%)
CC (99.9935%);CT (0.0065%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9768%);CT (0.0232%)
CC (99.9821%);CT (0.0179%)
CC (99.9946%);CT (0.0054%)
CC (99.9635%);CT (0.0365%)
CC (99.9984%);CT (0.0016%)
CT/CT (99.9717%);CT/C (0.0283%)
CT/CT (99.9899%);CT/C (0.0101%)
CC (100%)
CC (100%)
CC (100%)
CT/CT (99.8515%);CT/C (0.1485%)
CC (100%)
CC (100%)
CC (100%)
CT/CT (99.9873%);CT/C (0.0127%)
CC (99.9906%);CT (0.0094%)
multiple_allele
CC (100%)
CC (100%)
CC (100%)
multiple_allele
CC (100%)
CC (99.9982%);CT (0.0018%)
CC (100%)
CC (99.9952%);CT (0.0048%)
CC (99.9906%);CT (0.0094%)
multiple_allele
CC (99.9833%);CT (0.0167%)
CC (99.9884%);CT (0.0116%)
CC (100%)
CC (99.9894%);CT (0.0106%)
CC (100%)
CC (99.9700%);CT (0.0300%)
CC (100%)
CC (99.9825%);CT (0.0175%)
GA (0.0283%);GG (99.9717%)
multiple_allele
GG (100%)
GG (99.9881%);GT (0.0119%)
GG (100%)
GG (100%)
GG (100%)
GG (99.9982%);GA (0.0018%)
GG (100%)
multiple_allele
GA (0.0094%);GG (99.9906%)
GG (99.9992%);GA (0.0008%)
GG (100%)
GG (100%)
GG (100%)
GG (100%)
GG (100%)
GG (99.9982%);GA (0.0018%)
GG (100%)
GG (99.9968%);GA (0.0032%)
GA (0.0189%);GG (99.9811%)
GG (99.9959%);GA (0.0041%)
GG (100%)
GG (100%)
GG (100%)
GG (100%)
GG (100%)
GG (99.9964%);GA (0.0036%)
GG (100%)
GG (99.9968%);GA (0.0032%)
CC (99.9906%);CT (0.0094%)
CC (99.9986%);CT (0.0014%)
CC (99.9917%);CT (0.0083%)
CC (100%)
CC (100%)
CC (99.9894%);CT (0.0106%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9984%);CT (0.0016%)
GA (0.3211%);GG (99.6789%)
multiple_allele
GG (99.9917%);GT (0.0083%)
GG (99.9826%);GA (0.0174%)
GG (100%)
GG (99.4806%);GA (0.5194%)
GG (99.9922%);GA (0.0078%)
GG (99.9953%);GA (0.0047%)
GG (100%)
GG (99.9650%);GA (0.0350%)
CC (99.9906%);CT (0.0094%)
CC (99.9964%);CT (0.0036%)
CC (99.9917%);CT (0.0083%)
CC (100%)
CC (100%)
CC (99.9576%);CT (0.0424%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9968%);CT (0.0032%)
AG/A (0.0094%);AG/AG (99.9906%)
AG/AG (99.9968%);AG/A (0.0032%)
AA (100%)
AA (100%)
AA (100%)
AG/AG (99.9536%);AG/A (0.0464%)
AA (100%)
AA (100%)
AA (100%)
AG/AG (99.9984%);AG/A (0.0016%)
CC (99.3578%);CT (0.6422%)
CC (99.9618%);CT (0.0382%)
CC (100%)
CC (99.9942%);CT (0.0058%)
CC (100%)
CC (99.4807%);CT (0.5193%)
CC (100%)
CC (99.9953%);CT (0.0047%)
CC (100%)
multiple_allele
CC (99.8867%);CT (0.1133%)
CC (99.9959%);CT (0.0041%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9420%);CT (0.0580%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9920%);CT (0.0080%)
GC/GC (99.9433%);GC/G (0.0567%)
GC/GC (99.9935%);GC/G (0.0065%)
GG (100%)
GG (100%)
GG (100%)
GC/GC (99.9072%);GC/G (0.0928%)
GG (100%)
GG (100%)
GG (100%)
multiple_allele
AA (0.0094%);TT (98.4605%);TA (1.5300%)
multiple_allele
TT (100%)
TT (100%)
TT (100%)
TT (98.1664%);TA (1.8124%);AA (0.0212%)
TT (100%)
TT (100%)
multiple_allele
TT (99.8535%);TA (0.1465%)
CC (99.9717%);CT (0.0283%)
multiple_allele
CC (99.8918%);CT (0.1082%)
CC (100%)
CC (100%)
CC (99.7456%);CT (0.2544%)
CC (100%)
CC (99.9921%);CT (0.0079%)
CC (99.9691%);CG (0.0309%)
CC (99.9363%);CT (0.0637%)
GA (0.0189%);GG (99.9811%)
GG (99.9841%);GA (0.0159%)
GG (99.9584%);GA (0.0416%)
GG (99.9942%);GA (0.0058%)
GG (100%)
GG (100%)
GG (100%)
GG (99.9811%);GA (0.0189%)
GG (99.9381%);GA (0.0619%)
multiple_allele
CC (99.9622%);CA (0.0378%)
CC (99.9957%);CA (0.0043%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9364%);CA (0.0636%)
CC (100%)
CC (100%)
CC (100%)
CC (99.9952%);CA (0.0048%)
T/TC (0.0378%);T/T (99.9622%)
multiple_allele
T/T (99.9696%);T/TC (0.0304%)
T/T (99.8919%);T/TC (0.1081%)
TT (100%)
TC/TC (99.9808%);TC/T (0.0192%)
T/T (99.9697%);T/TC (0.0303%)
multiple_allele
T/T (99.9459%);T/TC (0.0541%)
T/T (99.8328%);T/TC (0.1672%)
T/T (99.5655%);T/TA (0.4345%)
multiple_allele
TT (100%)
TT (100%)
TT (100%)
T/T (99.3217%);T/TA (0.6783%)
TT (100%)
TT (99.9984%);TC (0.0016%)
TT (100%)
T/T (99.9809%);T/TA (0.0191%)
CC (88.4586%);TT (0.3589%);TG (0.0189%);CT (10.4647%);CG (0.6989%)
multiple_allele
CC (98.0062%);CT (1.9678%);TT (0.0260%)
CC (92.7101%);CT (7.1365%);TT (0.1533%)
CC (99.4681%);CT (0.5319%)
multiple_allele
CC (98.1618%);CT (1.8210%);TT (0.0172%)
multiple_allele
CC (96.7949%);CT (3.1731%);TT (0.0321%)
multiple_allele

Supplementary Table S8. Disease-Causing Variants in Pancreatitis and Hypothyroidism From The Chinamap

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Supplementary Table S8. Disease-Causing Variants in Pancreatitis and Hypothyroidism From The Chinamap

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Supplementary Table S8.

Disease-causing variants in pancreatitis and hypothyro

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