Supplementary Table 1.Quality Control Parameters of Exome Captured Sequence

Supplementary materials

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

Sample all / Covered Exome (Base) / Exome Coverage (%) / Reads Mapped To Genome / Reads Mapped To Exome / Mapped Reads Ratio（%） / Mapped Base To Genome / Mapped Base To Exome / Mapped Base Ratio（%） / Average Depth
SiBoAoKe / 3 / 25893008 / 98% / 55120236 / 16874303 / 30% / 4422446913 / 957079070 / 21% / 36.96
5 / 25807627 / 98% / 49173676 / 15587895 / 31% / 3962808897 / 889041348 / 22% / 34.45
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 / synonymous / Non-frame shift insertion / Frame shift insertion / Stop gain / Stop lost
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 / Reference / Mutation / Gene ID / Decription
chr1 / 22716505 / C / A / ZBTB40 / zinc finger and BTB domain containing 40
chr1 / 114325702 / A / C / OLFML3 / olfactomedin-like 3
chr1 / 75456773 / G / C / SLC44A5 / solute carrier family 44, member 5
chr1 / 45859061 / A / C / CCDC17 / coiled-coil domain containing 17
chr1 / 18564305 / T / G / IGSF21 / immunoglobin superfamily, member 21
chr1 / 232519032 / A / C / SLC35F3 / solute carrier family 35, member F3
chr1 / 152570575 / A / C / ATP8B2 / ATPase, class I, type 8B, member 2
chr1 / 163035651 / T / G / PBX1 / pre-B-cell leukemia homeobox 1
chr1 / 9094103 / G / C / GPR157 / G protein-coupled receptor 157
chr1 / 204970018 / A / C / MAPKAPK2 / mitogen-activated protein kinase-activated protein kinase 2
chr1 / 39718248 / A / C / MACF1 / microtubule-actin crosslinking factor 1
chr1 / 182181214 / A / G / GLT25D2 / glycosyltransferase 25 domain containing 2
chr10 / 75282069 / T / C / CAMK2G / calcium/calmodulin-dependent protein kinase II gamma
chr10 / 26830006 / A / C / APBB1IP / amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein
chr10 / 88693223 / A / C / MMRN2 / multimerin 2
chr10 / 13892874 / G / A / FRMD4A / FERM domain containing 4A
chr10 / 106027727 / A / C / GSTO2 / glutathione S-transferase omega 2
chr10 / 61708597 / G / C / ANK3 / ankyrin 3, node of Ranvier (ankyrin G)
chr11 / 15055464 / C / G / CALCB / calcitonin-related polypeptide beta
chr11 / 57212651 / A / C / ZDHHC5 / zinc finger, DHHC-type containing 5
chr11 / 106315808 / T / C / GUCY1A2 / guanylatecyclase 1, soluble, alpha 2
chr11 / 123014168 / G / C / SCN3B / sodium channel, voltage-gated, type III, beta
chr12 / 110587859 / T / G / BRAP / BRCA1 associated protein
chr12 / 48739957 / T / C / ACCN2 / amiloride-sensitive cation channel 2, neuronal
chr12 / 239337 / T / C / SLC6A13 / solute carrier family 6 (neurotransmitter transporter, GABA), member 13
chr12 / 120822117 / T / C / PSMD9 / proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
chr12 / 92317185 / T / C / NUDT4 / nudix (nucleoside diphosphate linked moiety X)-type motif 4
chr12 / 70233200 / A / G / LGR5 / leucine-rich repeat containing G protein-coupled receptor 5
chr12 / 3017446 / T / C / TEAD4 / TEA domain family member 4
chr12 / 50664079 / G / T / ACVR1B / activin A receptor, type IB
chr12 / 73730968 / T / G / KCNC2 / potassium voltage-gated channel, Shaw-related subfamily, member 2
chr13 / 112820776 / T / G / F7 / coagulation factor VII (serum prothrombin conversion accelerator)
chr13 / 112946763 / G / A / CUL4A / cullin 4A
chr13 / 19661221 / A / C / GJB2 / gap junction protein, beta 2, 26kDa
chr13 / 97450835 / G / T / IPO5 / importin 5
chr13 / 112527821 / A / G / ATP11A / ATPase, class VI, type 11A
chr16 / 70453202 / T / G / ZNF821 / zinc finger protein 821
chr17 / 9472814 / A / C / WDR16 / WD repeat domain 16
chr2 / 127550751 / A / C / BIN1 / bridging integrator 1
chr2 / 135427616 / G / T / CCNT2 / cyclin T2
chr2 / 68898610 / A / C / ARHGAP25 / Rho GTPase activating protein 25
chr2 / 211179723 / G / C / CPS1 / carbamoyl-phosphate synthase 1, mitochondrial
chr2 / 33467850 / G / A / LTBP1 / latent transforming growth factor beta binding protein 1
chr20 / 4628210 / C / G / PRNP / prion protein
chr3 / 3070492 / T / G / CNTN4 / contactin 4
chr3 / 124117389 / T / C / SEMA5B / sema domain, seven thrombospondin repeats (type 1 and type 1-like)
chr3 / 14730579 / A / C / C3orf20 / chromosome 3 open reading frame 20
chr3 / 188927237 / C / G / BCL6 / B-cell CLL/lymphoma 6
chr3 / 52220582 / G / C / ALAS1 / aminolevulinate, delta-, synthase 1
chr3 / 13388348 / A / G / NUP210 / nucleoporin 210kDa
chr3 / 46282393 / T / G / CCR3 / chemokine (C-C motif) receptor 3
chr3 / 9077036 / G / C / SRGAP3 / SLIT-ROBO Rho GTPase activating protein 3
chr4 / 94225364 / G / C / GRID2 / glutamate receptor, ionotropic, delta 2
chr4 / 22035006 / G / C / GPR125 / G protein-coupled receptor 125
chr4 / 148683195 / G / C / EDNRA / endothelin receptor type A
chr4 / 42272427 / C / G / ATP8A1 / ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
chr5 / 121804244 / C / T / SNCAIP / synuclein, alpha interacting protein
chr5 / 112467880 / T / C / MCC / mutated in colorectal cancers
chr5 / 148400432 / A / C / SH3TC2 / SH3 domain and tetratricopeptide repeats 2
chr5 / 14450227 / C / G / TRIO / triple functional domain (PTPRF interacting)
chr5 / 43329960 / C / G / HMGCS1 / 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
chr6 / 32024687 / A / C / CFB / complement factor B
chr6 / 146762462 / T / C / GRM1 / glutamate receptor, metabotropic 1
chr6 / 132312177 / C / G / CTGF / connective tissue growth factor
chr6 / 46955544 / T / G / GPR116 / G protein-coupled receptor 116
chr7 / 99534589 / T / G / MCM7 / minichromosome maintenance complex component 7
chr7 / 120671570 / A / C / C7orf58 / chromosome 7 open reading frame 58
chr7 / 148111905 / C / G / CUL1 / cullin 1
chr7 / 103031081 / T / C / RELN / reelin
chr7 / 16468922 / A / C / SOSTDC1 / sclerostin domain containing 1
chr7 / 150888623 / A / C / PRKAG2 / protein kinase, AMP-activated, gamma 2 non-catalytic subunit
chr8 / 132033417 / C / G / ADCY8 / adenylatecyclase 8 (brain)
chr8 / 141970011 / G / C / PTK2 / PTK2 protein tyrosine kinase 2
chr8 / 74397787 / C / A / RDH10 / retinol dehydrogenase 10 (all-trans)
chr8 / 121336729 / T / G / COL14A1 / collagen, type XIV, alpha 1
chr8 / 93073084 / T / G / RUNX1T1 / runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
chr8 / 22062205 / T / G / LGI3 / leucine-rich repeat LGI family, member 3
chr8 / 24207621 / T / C / ADAM28 / ADAM metallopeptidase domain 28
chr9 / 74007381 / A / C / GDA / guanine deaminase
chr9 / 130801807 / A / C / NUP188 / nucleoporin 188kDa
chr9 / 37416578 / A / C / GRHPR / glyoxylatereductase/hydroxypyruvatereductase
chr9 / 110703565 / T / G / IKBKAP / inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
chr9 / 72403355 / G / C / TRPM3 / transient receptor potential cation channel, subfamily M, member 3