Supplementary materials

Supplementary Table 1.Quality control parameters of exome captured sequence.

Sample all Covered Exome Re Reads Mapped Mapped Base To Mapped Mapped Average Exome Coverage ad Mapped Reads Genome Base To Base Depth (Base) (%) s To Exome Ratio（% Exome Ratio（%） M ） ap pe d To Ge no m e

3 25893008 98% 55120236 16874303 30% 4422446913 957079070 21% 36.96 SiBoAoK 5 25807627 98% 49173676 15587895 31% 3962808897 889041348 22% 34.45 e ZTQ 25825834 98% 45233076 15584134 34% 3671687550 881450729 24% 34.13 Supplementary Table 2.Annotation results of the 3 sequenced samples.

Sample cSNP calls SNP in dbSNP 1000 genome Heterozygous Homozygous

3 58711 16738 43975 41672 17039 5 54187 16350 42830 38328 15859 ZTQ 52408 15911 41908 37465 14943 Supplementary Table 3.Summary of the types of SNPs from the 3 sequenced samples.

Sample Non-synonymous synonymou Non-frame Frame Stop Stop s shift shift gain lost insertion insertion

3 39905 17863 53 159 633 98 5 36654 16660 49 145 596 83 ZTQ 35160 16300 36 131 688 93

Supplementary Table 4.Independent analysis of Indels from the 3 sequenced samples.

Sample cINDEL calls Frameshiftingindel Non-frameshiftingindel

3 264 194 68 5 295 224 71 ZTQ 251 185 66

Supplement Figure 1. The overlap of SNP from the 3 sequenced samples.

Supplementary data sheet.The list of 83 candidate mutation positions after rejecting process.

Chromosome Position Mutation Decription

chr1 22716505 A zinc finger and BTB domain containing 40 chr1 114325702 C olfactomedin-like 3 chr1 75456773 C solute carrier family 44, member 5 chr1 45859061 C coiled-coil domain containing 17 chr1 18564305 G immunoglobin superfamily, member 21 chr1 232519032 C solute carrier family 35, member F3 chr1 152570575 C ATPase, class I, type 8B, member 2 chr1 163035651 G pre-B-cell leukemia homeobox 1 chr1 9094103 C G protein-coupled receptor 157 mitogen-activated protein kinase-activated chr1 204970018 C protein kinase 2 chr1 39718248 C microtubule-actin crosslinking factor 1 chr1 182181214 G glycosyltransferase 25 domain containing 2 calcium/calmodulin-dependent protein kinase chr10 75282069 C II gamma amyloid beta (A4) precursor protein-binding, chr10 26830006 C family B, member 1 interacting protein chr10 88693223 C multimerin 2 chr10 13892874 A FERM domain containing 4A chr10 106027727 C glutathione S-transferase omega 2 chr10 61708597 C ankyrin 3, node of Ranvier (ankyrin G) chr11 15055464 G calcitonin-related polypeptide beta chr11 57212651 C zinc finger, DHHC-type containing 5 chr11 106315808 C guanylatecyclase 1, soluble, alpha 2 chr11 123014168 C sodium channel, voltage-gated, type III, beta chr12 110587859 G BRCA1 associated protein chr12 48739957 C amiloride-sensitive cation channel 2, neuronal solute carrier family 6 (neurotransmitter chr12 239337 C transporter, GABA), member 13 proteasome (prosome, macropain) 26S chr12 120822117 C subunit, non-ATPase, 9 chr12 92317185 C nudix (nucleoside diphosphate linked moiety X)-type motif 4 leucine-rich repeat containing G protein- chr12 70233200 G coupled receptor 5 chr12 3017446 C TEA domain family member 4 chr12 50664079 T activin A receptor, type IB potassium voltage-gated channel, Shaw- chr12 73730968 G related subfamily, member 2 coagulation factor VII (serum prothrombin chr13 112820776 G conversion accelerator) chr13 112946763 A cullin 4A chr13 19661221 C gap junction protein, beta 2, 26kDa chr13 97450835 T importin 5 chr13 112527821 G ATPase, class VI, type 11A chr16 70453202 G zinc finger protein 821 chr17 9472814 C WD repeat domain 16 chr2 127550751 C bridging integrator 1 chr2 135427616 T cyclin T2 chr2 68898610 C Rho GTPase activating protein 25 carbamoyl-phosphate synthase 1, chr2 211179723 C mitochondrial latent transforming growth factor beta binding chr2 33467850 A protein 1 chr20 4628210 G prion protein chr3 3070492 G contactin 4 sema domain, seven thrombospondin repeats chr3 124117389 C (type 1 and type 1-like) chr3 14730579 C chromosome 3 open reading frame 20 chr3 188927237 G B-cell CLL/lymphoma 6 chr3 52220582 C aminolevulinate, delta-, synthase 1 chr3 13388348 G nucleoporin 210kDa chr3 46282393 G chemokine (C-C motif) receptor 3 chr3 9077036 C SLIT-ROBO Rho GTPase activating protein 3 chr4 94225364 C glutamate receptor, ionotropic, delta 2 chr4 22035006 C G protein-coupled receptor 125 chr4 148683195 C endothelin receptor type A ATPase, aminophospholipid transporter chr4 42272427 G (APLT), class I, type 8A, member 1 chr5 121804244 T synuclein, alpha interacting protein chr5 112467880 C mutated in colorectal cancers chr5 148400432 C SH3 domain and tetratricopeptide repeats 2 chr5 14450227 G triple functional domain (PTPRF interacting) 3-hydroxy-3-methylglutaryl-CoA synthase 1 chr5 43329960 G (soluble) chr6 32024687 C complement factor B chr6 146762462 C glutamate receptor, metabotropic 1 chr6 132312177 G connective tissue growth factor chr6 46955544 G G protein-coupled receptor 116 minichromosome maintenance complex chr7 99534589 G component 7 chr7 120671570 C chromosome 7 open reading frame 58 chr7 148111905 G cullin 1 chr7 103031081 C reelin chr7 16468922 C sclerostin domain containing 1 protein kinase, AMP-activated, gamma 2 non- chr7 150888623 C catalytic subunit chr8 132033417 G adenylatecyclase 8 (brain) chr8 141970011 C PTK2 protein tyrosine kinase 2 chr8 74397787 A retinol dehydrogenase 10 (all-trans) chr8 121336729 G collagen, type XIV, alpha 1 runt-related transcription factor 1; chr8 93073084 G translocated to, 1 (cyclin D-related) chr8 22062205 G leucine-rich repeat LGI family, member 3 chr8 24207621 C ADAM metallopeptidase domain 28 chr9 74007381 C guanine deaminase chr9 130801807 C nucleoporin 188kDa glyoxylatereductase/hydroxypyruvatereductas chr9 37416578 C e chr9 110703565 G inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex- associated protein transient receptor potential cation channel, chr9 72403355 C subfamily M, member 3