Footnotes

• HL, BX and YW contributed equally.

• Contributors SX and HL conceived and designed the study. YW discovered the misaligned pattern and analysed the locus structure. HL discovered the link with pancreatitis. SX supervised the study. HL, BX and YW developed the toolkit. HL and BX performed the evaluation. HL, BX, YW and YG performed sequencing data processing and analysis. HL drafted the manuscript. SX revised the manuscript.

• Funding This study was supported by the National Natural Science Foundation of China (NSFC) grant (32030020, 32041008, 31871256, 31771388 and 31961130380), the Strategic Priority Research Program (XDPB17, XDB38000000) of the Chinese Academy of Sciences (CAS), the UK Royal Society-Newton Advanced Fellowship (NAF\R1\191094) and the Shanghai Municipal Science and Technology Major Project (2017SHZDZX01). The funders had no role in study design, data collection, analysis, decision to publish or preparation of the manuscript.

• Competing interests None declared.

• Provenance and peer review Not commissioned; externally peer reviewed.

• Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.