SUPPLEMENTARY TABLE S1. List of 19 MM cell lines used in this study.

(1)

No Cell line Source

1 NCI-H28 ATCC

2 NCI-H2452 ATCC

3 NCI-H2052 ATCC

4 MSTO-211H ATCC

5 ACC-MESO-1 RBCCB

6 ACC-MESO-4 RBCCB

7 HMMME RBCCB

8 ONE58 ECACC

9 NO36 ECACC

10 LO68 ECACC

11 Mero-14 ECACC

12 Mero-25 ECACC

13 Mero-41 ECACC

14 Mero-48a ECACC

15 Mero-82 ECACC

16 Mero-83 ECACC

17 Mero-84 ECACC

18 Mero-95 ECACC

19 NCI-H226 ATCC

Abbreviations: ATCC, American Type Culture Collection (Manassas,VA); RBCCB, RIKEN BioResource Center Cell Bank (Tsukuba, Japan); ECACC, European Collection of Cell Cultures (Salisbury, UK).

SUPPLEMENTARY TABLE S1. List of 19 MM cell lines

used in this study.

(2)

Sample Tumor / normal Gender Age Smoking Asbestos exposure

Pathological

type Surgery

CT-1T Tumor and normal F 40 no yes B panpleuropneumonectomy

CT-2T Tumor and normal M 51 yes no E panpleuropneumonectomy

CT-3T Tumor and normal M 50 yes no B panpleuropneumonectomy

CT-4T Tumor and normal M 56 yes no E panpleuropneumonectomy

CT-6T Tumor and normal M 60 yes yes B panpleuropneumonectomy

CT-9T Tumor and normal M 46 no no B panpleuropneumonectomy

CT-10T Tumor and normal M 54 yes yes E panpleuropneumonectomy

CT-11T Tumor and normal M 61 yes yes B panpleuropneumonectomy

CT-13T Tumor and normal F 56 no no E panpleuropneumonectomy

CT-14T Tumor and normal M 62 yes yes E panpleuropneumonectomy

CT-15T Tumor and normal M 66 no yes B panpleuropneumonectomy

CT-18T Tumor and normal M 61 yes unknown S panpleuropneumonectomy

CT-20T Tumor and normal M 60 yes unknown E panpleuropneumonectomy

CT-21T Tumor and normal M 71 yes yes S panpleuropneumonectomy

CT-23T Tumor and normal F 52 yes unknown E panpleuropneumonectomy

CT-46T Tumor and normal M 41 yes unknown B panpleuropneumonectomy Abbreviations: B, Biphasic; E, Epithelial; S, Sarcomatous; F, Female; M, Male.

SUPPLEMENTARY TABLE S2. Clinicopathological characteristics of 23 MM cases subjected to targeted exon sequ

(3)

Gene symbol Target HGNC ID Function Location

LATS1 exon + intron HGNC:6514 LATS, large tumor suppressor, homolog 1 (Drosophila) 6q25.1

LATS2 exon + intron HGNC:6515 LATS, large tumor suppressor, homolog 2 (Drosophila) 13q11-q12

FAT4 exon HGNC:23109 FAT tumor suppressor homolog 4 (Drosophila) 4q28.1

CRB1 exon HGNC:2343 crumbs homolog 1 (Drosophila) 1q31-q32.1

CRB2 exon HGNC:18688 crumbs homolog 2 (Drosophila) 9q33.2

CRB3 exon HGNC:20237 crumbs homolog 3 (Drosophila) 19p13.3

NF2 exon HGNC:7773 neurofibromin 2 (merlin) 22q12.2

FRMD1 exon HGNC:21240 FERM domain containing 1 6q27

RASSF2 exon HGNC:9883 Ras association (RalGDS/AF-6) domain family member 2 20p13

RASSF3 exon HGNC:14271 Ras association (RalGDS/AF-6) domain family member 3 12q14.2

RASSF5 exon HGNC:17609 Ras association (RalGDS/AF-6) domain family member 5 1q31

KIBRA exon HGNC:29435 WW and C2 domain containing 1 5q34

MST2 exon HGNC:11406 serine/threonine kinase 3 8q22.2

MST3 exon HGNC:11403 serine/threonine kinase 24 13q31.2-q32.3

MST4 exon Gene ID: 51765 Serine/threonine protein kinase MST4 Xq26.2

MOB3C exon HGNC:29800 MOB kinase activator 3C 1p34.1

MOB4 exon HGNC:17261 MOB family member 4, phocein 2q33.1

MOB1B exon HGNC:29801 MOB kinase activator 1B 4q13.3

MOB2 exon HGNC:24904 MOB kinase activator 2 11p15.5

MOB3A exon HGNC:29802 MOB kinase activator 3A 19p13.3

MOB3B exon HGNC:23825 MOB kinase activator 3B 9p21.1

FRMD6 exon HGNC:19839 FERM domain containing 6 14q22.1

RASSF1A exon HGNC:9882 Ras association (RalGDS/AF-6) domain family member 1 3p21.3

SAV1 exon HGNC:17795 salvador homolog 1 (Drosophila) 14q13-q23

MST1 exon HGNC:7380 macrophage stimulating 1 (hepatocyte growth factor-like) 3p21

MOB1A exon HGNC:16015 MOB kinase activator 1A 2p13.1

TAZ exon HGNC:11577 tafazzin Xq28

YWHAB exon HGNC:12849 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 20q13.1 YWHAE exon HGNC:12851 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 17p13.3 YWHAG exon HGNC:12852 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 7q11.23 YWHAH exon HGNC:12853 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide 22q12.1-q13.1 YWHAQ exon HGNC:12854 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 2p25.2-p25.1 YWHAZ exon HGNC:12855 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 8q22.3

YWHAS exon HGNC:10773 stratifin 1p36.11

TEAD1 exon HGNC:11714 TEA domain family member 1 (SV40 transcriptional enhancer factor) 11p15.4

TEAD2 exon HGNC:11715 TEA domain family member 2 19q13.3

TEAD3 exon HGNC:11716 TEA domain family member 3 6p21.2

TEAD4 exon HGNC:11717 TEA domain family member 4 12p13.3-p13.2

SUPPLEMENTARY TABLE S3. Hippo pathway genes sequenced in this study.

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SUPPLEMENTARY TABLE S4. Whole-exon sequencing of 6 MM cell lines.

No. Gene symbol Chr RefSeq^b cDNA Amino acid Type 211H H2452 H28 MESO4 H2052 MESO1

1 EI24 11 NM_001007277 c.732_733insC p.R244fs frameshift insertion ○ ○ ○ ○ ○ ○

2 KRTAP4-8 17 NM_031960 c.C204A p.S68R nonsynonymous SNV - - ○ - - ○

KRTAP4-8 17 NM_031960 c.2_3insA p.M1fs frameshift insertion ○ ○ ○ ○ ○ ○

3 PRIM2 6 NM_000947 c.889_890insA p.E297fs frameshift insertion ○ ○ ○ ○ ○ ○

PRIM2 6 NM_000947 c.C916T p.R306X stopgain SNV - ○ - - - -

4 PRSS1 7 NM_002769 c.A508G p.K170E nonsynonymous SNV ○ ○ - - ○ ○

PRSS1 7 NM_002769 c.G512A p.C171Y nonsynonymous SNV ○ - - ○ - -

PRSS1 7 NM_002769 c.G542A p.S181N nonsynonymous SNV ○ ○ ○ ○ ○ ○

5 PRSS2 7 NM_002770 c.C10T p.P4S nonsynonymous SNV - - ○ ○ - -

PRSS2 7 NM_002770 c.C47T p.T16I nonsynonymous SNV ○ ○ ○ ○ ○ ○

PRSS2 7 NM_002770 c.C95A p.S32Y nonsynonymous SNV ○ ○ ○ ○ ○ ○

6 PRSS3 9 NM_001197098 c.284_285del p.95_95del frameshift deletion ○ - ○ - - -

PRSS3 9 NM_001197098 c.A493G p.K165E nonsynonymous SNV - ○ - - - -

PRSS3 9 NM_001197098 c.G524A p.S175N nonsynonymous SNV ○ ○ ○ ○ ○ ○

PRSS3 9 NM_001197098 c.639delT p.C213fs frameshift deletion - - ○ - - -

7 ZNF595 4 NM_182524 c.600_601insA p.Y200fs frameshift insertion ○ ○ ○ ○ ○ ○

8 DDHD1 14 NM_001160148 c.337_338insGGCGGC p.S113delinsGGS nonframeshift insertion ○ ○ - ○ ○ ○

9 KRT10 17 NM_000421 c.1637_1638del p.546_546del frameshift deletion - - ○ - - -

KRT10 17 NM_000421 c.1468_1479del p.490_493del nonframeshift deletion ○ - - ○ ○ ○

KRT10 17 NM_000421 c.1473_1477del p.491_493del frameshift deletion - - ○ - - -

10 MLL3 7 NM_170606 c.A11405G p.D3802G nonsynonymous SNV - - - - ○ -

MLL3 7 NM_170606 c.2448_2449insA p.Y816_I817delinsX stopgain SNV ○ ○ ○ - - ○

11 OR1B1 9 NM_001004450 c.45_46insT p.L15fs frameshift insertion ○ ○ ○ ○ ○ -

12 ZAN 7 NM_173059 c.3290_3292del p.1097_1098del nonframeshift deletion - ○ - - ○ -

ZAN 7 NM_003386 c.5767_5768insG p.F1923fs frameshift insertion ○ ○ - ○ - ○

13 ALMS1 2 NM_015120 c.1570_1571insCTC p.S524delinsSP nonframeshift insertion ○ ○ - - ○ ○

14 FZD1 7 NM_003505 c.264_265insCCG p.Q88delinsQP nonframeshift insertion ○ - ○ - ○ ○

15 HOXD9 2 NM_014213 c.794_795insGCA p.P265delinsPQ nonframeshift insertion ○ ○ ○ ○ - -

16 KDM6B 17 NM_001080424 c.752_753insACCACC p.L251delinsLPP nonframeshift insertion - ○ - - ○ -

KDM6B 17 NM_001080424 c.753_755del p.251_252del nonframeshift deletion - - - ○ - -

KDM6B 17 NM_001080424 c.C1881G p.S627R nonsynonymous SNV - - ○ - - -

17 SLC9B1 4 NM_139173 c.1338_1339del p.446_447del frameshift deletion - - ○ ○ ○ ○

18 AHNAK 11 NM_001620 c.C8897T p.P2966L nonsynonymous SNV ○ - - - - -

AHNAK 11 NM_001620 c.C7225T p.P2409S nonsynonymous SNV - - - - ○ -

AHNAK 11 NM_001620 c.C5565G p.I1855M nonsynonymous SNV - - - ○

19 C15orf40 15 NM_001160113 c.396_397insT p.L132fs frameshift insertion ○ ○ - - - -

C15orf40 15 NM_001160113 c.395delT p.L132X stopgain SNV - - - ○

20 CDC27 17 NM_001114091 c.C818G p.A273G nonsynonymous SNV ○ - - ○ ○ -

21 COL6A6 3 NM_001102608 c.T3410C p.I1137T nonsynonymous SNV ○ - - - - -

COL6A6 3 NM_001102608 c.C3883T p.R1295X stopgain SNV - - - - ○ -

COL6A6 3 NM_001102608 c.T5542C p.F1848L nonsynonymous SNV - - ○ - - -

22 LOC388946 2 NM_001145051 c.462delG p.E154fs frameshift deletion ○ - - - ○ ○

23 MAGEF1 3 NM_022149 c.477_478insGGA p.D159delinsED nonframeshift insertion ○ ○ ○ - - -

24 MCC 5 NM_001085377 c.64_65insGGC p.S22delinsGS nonframeshift insertion - ○ - ○ - ○

25 MEGF9 9 NM_001080497 c.89_94del p.30_32del nonframeshift deletion - ○ ○ ○ - -

26 NBPF9 1 NM_001037675 c.116_117insAG p.K39fs frameshift insertion ○ ○ - ○ - -

27 NUDT11 X NM_018159 frameshift deletion ○ - - ○ - ○

28 OVGP1 1 NM_002557 c.1560_1561insA p.G520fs frameshift insertion ○ - - - ○ ○

29 RBMX X NM_002139 c.906_907insCC p.P302fs frameshift insertion ○ - - - ○ -

RBMX X NM_002139 c.316_317insTT p.P106fs frameshift insertion ○ - ○ - ○ -

30 TDG 12 NM_003211 c.286_287insA p.E96fs frameshift insertion - ○ ○ ○ - -

31 ZFHX3 16 NM_001164766 c.2482_2483insCAA p.A828delinsQA nonframeshift insertion - - ○ - - -

ZFHX3 16 NM_001164766 c.2476_2481del p.826_827del nonframeshift deletion - - - ○

ZFHX3 16 NM_006885 c.C1114G p.R372G nonsynonymous SNV - - - ○ - -

32 ABCA7 19 NM_019112 c.1180_1190del p.394_397del frameshift deletion - - ○ - - -

ABCA7 19 NM_019112 c.C3808T p.R1270W nonsynonymous SNV - - - ○ - -

ABCA7 19 NM_019112 c.A4762G p.M1588V nonsynonymous SNV - - ○ - - -

33 ADAMTS19 5 NM_133638 c.594_595insCCCGGC p.N198delinsNPG nonframeshift insertion - - - - ○ ○

34 AKNA 9 NM_030767 c.C1450T p.H484Y nonsynonymous SNV - ○ - - - -

AKNA 9 NM_030767 c.A647T p.D216V nonsynonymous SNV ○ - - - - -

35 ANK1 8 NM_020477 c.G3727A p.V1243I nonsynonymous SNV - - ○ - - -

ANK1 8 NM_020477 c.G3235A p.E1079K nonsynonymous SNV - - - ○ - -

ANK1 8 NM_020477 c.A1979G p.N660S nonsynonymous SNV - - - ○ - -

36 ANK3 10 NM_020987 c.G6632A p.S2211N nonsynonymous SNV - - - ○ - -

ANK3 10 NM_020987 c.T4043C p.F1348S nonsynonymous SNV - - - ○

37 ANKS1B 12 NM_152788 c.G2215T p.D739Y nonsynonymous SNV - - - ○ - -

ANKS1B 12 NM_152788 c.A1439G p.D480G nonsynonymous SNV - - ○ - - -

38 ANKZF1 2 NM_001042410 c.T422C p.L141S nonsynonymous SNV - - ○ - - -

ANKZF1 2 NM_001042410 c.G1999A p.A667T nonsynonymous SNV - - - ○

39 ASPHD1 16 NM_181718 c.510_511insGGT p.Q170delinsQG nonframeshift insertion ○ ○ - - - -

40 BAIAP2L2 22 NM_025045 c.1235_1236insC p.N412fs frameshift insertion - - - ○ - ○

41 COBL 7 NM_015198 c.G3400A p.G1134R nonsynonymous SNV - - ○ - - -

COBL 7 NM_015198 c.T3118G p.S1040A nonsynonymous SNV ○ - - - - -

42 CRIPAK 4 NM_175918 c.76_77insCA p.S26fs frameshift insertion - ○ - - - ○

CRIPAK 4 NM_175918 c.C332G p.P111R nonsynonymous SNV - ○ - - - ○

43 CROCC 1 NM_014675 c.C1478T p.P493L nonsynonymous SNV ○ - ○ - - -

44 CSMD1 8 NM_033225 c.A6914G p.Q2305R nonsynonymous SNV - - ○ - - -

CSMD1 8 NM_033225 c.C6396A p.N2132K nonsynonymous SNV - ○ - - - -

45 DNMT3L 21 NM_175867 c.G325A p.G109R nonsynonymous SNV ○ - - - - -

DNMT3L 21 NM_175867 c.G85T p.V29F nonsynonymous SNV - - ○ - - -

46 DOCK6 19 NM_020812 c.C4012T p.R1338X stopgain SNV - ○ - - - -

DOCK6 19 NM_020812 c.G1258A p.E420K nonsynonymous SNV - - - ○ - -

47 F13A1 6 NM_000129 c.C1150T p.P384S nonsynonymous SNV - - - ○

F13A1 6 NM_000129 c.C83A p.P28H nonsynonymous SNV - ○ - - - -

48 FAM132A 1 NM_001014980 c.G745A p.V249I nonsynonymous SNV - - - ○ - -

FAM132A 1 NM_001014980 c.C238G p.R80G nonsynonymous SNV ○ - - - - -

49 FAM171B 2 NM_177454 c.129_130insCAG p.Q43delinsQQ nonframeshift insertion - ○ ○ - - -

50 FAM22A 10 NM_001099338 c.2438_2440del p.813_814del nonframeshift deletion - - - ○ - ○

51 FAM22F 9 NM_017561 c.C1766G p.A589G nonsynonymous SNV - - - ○ - ○

52 FAM58A X NM_001130997 c.53_54insG p.A18fs frameshift insertion - - ○ - - ○

(5)

FAM58A X NM_001130997 c.17_18insG p.A6fs frameshift insertion - - - ○

53 FAM75C2 9 NM_001166137 c.3013_3014insCCT p.S1005delinsPS nonframeshift insertion - - ○ - - -

FAM75C2 9 NM_001166137 c.T1030C p.W344R nonsynonymous SNV - - - ○

54 FER1L6 8 NM_001039112 c.G3478A p.V1160I nonsynonymous SNV - - ○ - - -

FER1L6 8 NM_001039112 c.5436delC p.C1812fs frameshift deletion - - - ○

55 FLG 1 NM_002016 c.G9830T p.R3277L nonsynonymous SNV - - - ○

FLG 1 NM_002016 c.G2857C p.E953Q nonsynonymous SNV - - ○ - - -

56 FNDC1 6 NM_032532 c.T4583A p.M1528K nonsynonymous SNV - - ○ - - -

FNDC1 6 NM_032532 c.A4697C p.E1566A nonsynonymous SNV - - - ○ - -

57 FRG2B 10 NM_001080998 c.A511C p.I171L nonsynonymous SNV - - ○ - ○ -

FRG2B 10 NM_001080998 c.G485A p.R162Q nonsynonymous SNV - - ○ - ○ -

58 GTF2I 7 NM_032999 c.1398_1401del p.466_467del frameshift deletion - - - ○ - ○

59 HTR3D 3 NM_001163646 c.G154A p.A52T nonsynonymous SNV - - ○ - - -

HTR3D 3 NM_182537 c.C706T p.H236Y nonsynonymous SNV - - - - ○ -

60 MYO1H 12 NM_001101421 c.G169A p.E57K nonsynonymous SNV - - - ○

MYO1H 12 NM_001101421 c.666_678del p.222_226del frameshift deletion - - ○ - - -

61 NBPF10 1 NM_001039703 c.G10373T p.R3458M nonsynonymous SNV - - - ○ ○ -

62 NUP88 17 NM_002532 c.A2149C p.I717L nonsynonymous SNV ○ - - - - -

NUP88 17 NM_002532 c.T1928C p.L643P nonsynonymous SNV - - ○ - - -

63 OBSL1 2 NM_015311 c.G2887A p.E963K nonsynonymous SNV ○ - - - - -

OBSL1 2 NM_015311 c.G751T p.A251S nonsynonymous SNV - - ○ - - -

64 OR5AU1 14 NM_001004731 c.A1034T p.N345I nonsynonymous SNV - - - ○

OR5AU1 14 NM_001004731 c.686_688del p.229_230del nonframeshift deletion - - ○ - - -

65 OR5K3 3 NM_001005516 c.897_898insA p.M299fs frameshift insertion - - ○ - ○ -

66 PABPC3 13 NM_030979 c.761_762insT p.K254fs frameshift insertion - - - ○ ○ -

67 PKD1L2 16 NM_052892 c.G7050T p.W2350C nonsynonymous SNV - - ○ - - -

PKD1L2 16 NM_052892 c.T220C p.F74L nonsynonymous SNV - - - ○ - -

68 PLCD4 2 NM_032726 c.G406C p.D136H nonsynonymous SNV ○ - - - - -

PLCD4 2 NM_032726 c.T1961A p.L654Q nonsynonymous SNV - - - ○ - -

69 PLEC 8 NM_201381 c.G5557A p.A1853T nonsynonymous SNV - - - ○ - -

PLEC 8 NM_201381 c.G1621A p.E541K nonsynonymous SNV - ○ - - - -

70 PLIN5 19 NM_001013706 c.C1238T p.P413L nonsynonymous SNV - - ○ - - -

PLIN5 19 NM_001013706 c.G1043A p.R348Q nonsynonymous SNV - ○ - - - -

71 PRDM15 21 NM_022115 c.263_264insC p.R88fs frameshift insertion ○ ○ - - - -

72 RAB32 6 NM_006834 c.5_6insG p.A2fs frameshift insertion ○ ○ - - - -

73 RABL2A 2 NM_013412 c.231delG p.T77fs frameshift deletion - - - ○ - ○

74 ROBO4 11 NM_019055 c.G1345A p.E449K nonsynonymous SNV - ○ - - - -

ROBO4 11 NM_019055 c.A1210G p.T404A nonsynonymous SNV - - - ○

75 SEC16A 9 NM_014866 c.G3934A p.E1312K nonsynonymous SNV - - ○ - - -

SEC16A 9 NM_014866 c.C1921T p.R641C nonsynonymous SNV - - - ○ - -

76 SIGLEC1 20 NM_023068 c.T3902C p.L1301P nonsynonymous SNV - - - ○ - -

SIGLEC1 20 NM_023068 c.C2474A p.A825D nonsynonymous SNV - - - - ○ -

77 SLC35B1 17 NM_005827 c.222delT p.F74fs frameshift deletion - ○ - - - -

SLC35B1 17 NM_005827 c.T173C p.I58T nonsynonymous SNV - - ○ - - -

78 SPATA21 1 NM_198546 c.1084_1085insAAG p.L362delinsKL nonframeshift insertion ○ - ○ - - -

79 SPTBN5 15 NM_016642 c.G8449T p.A2817S nonsynonymous SNV - - - ○ - -

SPTBN5 15 NM_016642 c.G254A p.R85Q nonsynonymous SNV - - ○ - - -

80 SREK1 5 NM_001077199 c.C581T p.T194M nonsynonymous SNV - - - ○ - ○

81 SSPO 7 NM_198455 c.2059_2060insC p.T687fs frameshift insertion - - ○ - - -

SSPO 7 NM_198455 c.C11332T p.R3778W nonsynonymous SNV - - - ○

82 TNRC18 7 NM_001080495 c.C5428T p.R1810C nonsynonymous SNV - - - ○

TNRC18 7 NM_001080495 c.G457A p.D153N nonsynonymous SNV - - - ○ - -

83 TRIM64C 11 NM_001206631 c.A1019G p.K340R nonsynonymous SNV - - - - ○ -

TRIM64C 11 NM_001206631 c.G55A p.V19M nonsynonymous SNV - - ○ - - -

84 UTRN 6 NM_007124 c.C1210T p.L404F nonsynonymous SNV - - - ○ - -

UTRN 6 NM_007124 c.T2921C p.L974P nonsynonymous SNV - ○ - - - -

85 ZFYVE19 15 NM_001077268 c.112_113insGGGGC p.W38fs frameshift insertion - ○ - ○ - -

86 ABCA10 17 NM_080282 c.3697_3698insTTCCAGGT p.E1233fs frameshift insertion - - ○ - - -

87 ABCA13 7 NM_152701 c.G11230T p.A3744S nonsynonymous SNV - - - ○

88 ABCC1 16 NM_019862 c.T4090A p.C1364S nonsynonymous SNV - ○ - - - -

89 ABCC4 13 NM_001105515 c.A847G p.I283V nonsynonymous SNV - - - - ○ -

90 ACAD10 12 NM_025247 c.T1705A p.S569T nonsynonymous SNV - - - ○ - -

91 ACAP1 17 NM_014716 c.C1747T p.P583S nonsynonymous SNV - ○ - - - -

92 ACCS 11 NM_032592 c.A485G p.E162G nonsynonymous SNV - - - - ○ -

93 ACE 17 NM_001178057 c.G22A p.A8T nonsynonymous SNV - - - ○ - -

94 ACLY 17 NM_198830 c.G1139T p.G380V nonsynonymous SNV - - ○ - - -

95 ACOT8 20 NM_005469 c.910delC p.Q304fs frameshift deletion - - - - ○ -

96 ACSM2B 16 NM_001105069 c.C187T p.R63X stopgain SNV - - - ○ - -

97 ACTL8 1 NM_030812 c.G584A p.R195K nonsynonymous SNV - - - ○ - -

98 ADAM15 1 NM_207196 c.G1416T p.Q472H nonsynonymous SNV - - - ○ - -

99 ADAM29 4 NM_001130704 c.2068_2070del p.690_690del nonframeshift deletion - - - - ○ -

100 ADAMTS16 5 NM_139056 c.A740G p.H247R nonsynonymous SNV - - - ○

101 ADAMTS20 12 NM_025003 c.G5648A p.G1883E nonsynonymous SNV - - - ○ - -

102 ADAMTSL1 9 NM_001040272 c.T4987C p.S1663P nonsynonymous SNV - ○ - - - -

103 ADRA2B 2 NM_000682 c.C539T p.S180F nonsynonymous SNV - ○ - - - -

104 AFF3 2 NM_002285 c.1781_1785del p.594_595del frameshift deletion - - - - ○ -

105 AGAP6 10 NM_001077665 c.1338_1351del p.446_451del frameshift deletion - - - ○

106 AGPAT2 9 NM_001012727 c.52_53insCTG p.V18delinsLV nonframeshift insertion - ○ - - - -

107 AGTPBP1 9 NM_015239 c.A1412G p.Q471R nonsynonymous SNV ○ - - - - -

108 AGXT2L2 5 NM_153373 c.C1210G p.P404A nonsynonymous SNV - ○ - - - -

109 AHI1 6 NM_001134832 c.A199G p.I67V nonsynonymous SNV - - ○ - - -

110 AIFM3 22 NM_001018060 c.T721C p.S241P nonsynonymous SNV ○ - - - - -

111 AIM1 6 NM_001624 c.1786delC p.P596fs frameshift deletion - - - ○ - -

112 AKAP3 12 NM_006422 c.2103_2104insG p.G701fs frameshift insertion - - - ○

113 AKD1 6 NM_001145128 c.G4205A p.R1402H nonsynonymous SNV - - ○ - - -

114 ALDH7A1 5 NM_001202404 c.A1126G p.I376V nonsynonymous SNV - - - ○ - -

115 ALOX15 17 NM_001140 c.218_228del p.73_76del frameshift deletion - - - ○

116 ALOX15B 17 NM_001039131 c.A677G p.E226G nonsynonymous SNV - - - ○ - -

117 ALOXE3 17 NM_021628 c.G1469C p.C490S nonsynonymous SNV ○ - - - - -

118 ALS2CR8 2 NM_001104586 c.C2056T p.L686F nonsynonymous SNV - - ○ - - -

119 ANK2 4 NM_001148 c.G6361T p.D2121Y nonsynonymous SNV - - - ○ - -

120 ANKAR 2 NM_144708 c.T3577A p.F1193I nonsynonymous SNV - - - ○ - -

(6)

121 ANKLE2 12 NM_015114 c.C1807T p.L603F nonsynonymous SNV - - - ○ - -

122 ANKRD10 13 NM_017664 c.T562G p.F188V nonsynonymous SNV - - - ○ - -

123 ANKRD11 16 NM_013275 c.A5213G p.D1738G nonsynonymous SNV - - - - ○ -

124 ANKRD24 19 NM_133475 c.G1827A p.M609I nonsynonymous SNV ○ - - - - -

125 ANKRD32 5 NM_032290 c.C295T p.R99C nonsynonymous SNV - ○ - - - -

126 ANKRD36 2 NM_001164315 c.A2828G p.E943G nonsynonymous SNV - - - ○ - -

127 ANO9 11 NM_001012302 c.G1114A p.E372K nonsynonymous SNV - - ○ - - -

128 ANXA1 9 NM_000700 c.T845G p.L282R nonsynonymous SNV - - - ○ - -

129 AP3S1 5 NM_001284 c.69_70insA p.Y23fs frameshift insertion - - - - ○ -

130 APC2 19 NM_005883 c.2519_2520insGGCCAA p.A840delinsAAK nonframeshift insertion - ○ - - - -

131 APCDD1L 20 NM_153360 c.C1106A p.A369D nonsynonymous SNV - - - ○ - -

132 APOB 2 NM_000384 c.G13146C p.M4382I nonsynonymous SNV - - ○ - - -

133 APOBEC3B 22 NM_004900 c.783delG p.L261fs frameshift deletion - - ○ - - -

134 AQP12A 2 NM_198998 c.419delG p.S140fs frameshift deletion - - - ○ - -

135 AQP12B 2 NM_001102467 c.455delG p.S152fs frameshift deletion - - - ○ - -

136 AQPEP 5 NM_173800 c.206delC p.T69fs frameshift deletion ○ - - - - -

137 ARAP1 11 NM_001040118 c.G1414A p.E472K nonsynonymous SNV - - ○ - - -

138 ARAP3 5 NM_022481 c.G2161C p.E721Q nonsynonymous SNV - - ○ - - -

139 ARHGAP32 11 NM_014715 c.G4273A p.D1425N nonsynonymous SNV - - ○ - - -

140 ARHGEF26 3 NM_001251963 c.410_415del p.137_139del nonframeshift deletion - - - ○

141 ARHGEF33 2 NM_001145451 c.G1562C p.S521T nonsynonymous SNV ○ - - - - -

142 ARHGEF7 13 NM_001113512 c.C298T p.R100C nonsynonymous SNV - - - ○

143 ARMC9 2 NM_025139 c.G842A p.S281N nonsynonymous SNV - - ○ - - -

144 ASB15 7 NM_080928 c.C8T p.T3I nonsynonymous SNV - - - ○ - -

145 ASPM 1 NM_001206846 c.C5506A p.Q1836K nonsynonymous SNV - - - ○ - -

146 ATAD1 10 NM_032810 c.A463G p.I155V nonsynonymous SNV - - - ○ - -

ATAD1 10 NM_032810 c.C302T p.T101M nonsynonymous SNV - - - ○ - -

147 ATAD5 17 NM_024857 c.A2411G p.Q804R nonsynonymous SNV ○ - - - - -

148 ATP13A3 3 NM_024524 c.G3070A p.G1024S nonsynonymous SNV - - - - ○ -

149 ATP2B4 1 NM_001001396 c.A143G p.Y48C nonsynonymous SNV - - - ○ - -

150 ATP6V1A 3 NM_001690 c.G1824A p.M608I nonsynonymous SNV ○ - - - - -

151 ATXN2L 16 NM_145714 c.C43T p.Q15X stopgain SNV - - ○ - - -

152 AUP1 2 NM_181575 c.A388C p.M130L nonsynonymous SNV - - - ○ - -

153 AVIL 12 NM_006576 c.T1487C p.F496S nonsynonymous SNV - ○ - - - -

154 B4GALT6 18 NM_004775 c.C116T p.A39V nonsynonymous SNV - ○ - - - -

155 BAAT 9 NM_001127610 c.C250T p.P84S nonsynonymous SNV - - ○ - - -

156 BAHCC1 17 NM_001080519 c.G3380A p.R1127Q nonsynonymous SNV - - - - ○ -

157 BAP1 3 NM_004656 c.20delA p.E7fs frameshift deletion - - - ○ - -

158 BBX 3 NM_020235 c.A581G p.Q194R nonsynonymous SNV - - - - ○ -

159 BCAS1 20 NM_003657 c.G1168C p.G390R nonsynonymous SNV - ○ - - - -

BCAS1 20 NM_003657 c.C288A p.F96L nonsynonymous SNV - ○ - - - -

160 BMPR1A 10 NM_004329 c.G359A p.R120Q nonsynonymous SNV - - - ○

161 BRCA2 13 NM_000059 c.C7769G p.S2590C nonsynonymous SNV - - ○ - - -

162 BSN 3 NM_003458 c.C1765G p.Q589E nonsynonymous SNV - - ○ - - -

163 BTBD10 11 NM_032320 c.T269C p.V90A nonsynonymous SNV - - - ○ - -

164 BZRAP1 17 NM_004758 c.G5096A p.R1699K nonsynonymous SNV - - - ○ - -

165 C10orf27 10 NM_152710 c.G1014T p.Q338H nonsynonymous SNV - - ○ - - -

166 C11orf40 11 NM_144663 c.286_287insC p.K96fs frameshift insertion - - - - ○ -

167 C11orf41 11 NM_012194 c.T927A p.S309R nonsynonymous SNV - - ○ - - -

168 C14orf135 14 NM_022495 c.2419_2420insTAT p.P807delinsLS nonframeshift insertion - - ○ - - -

169 C16orf71 16 NM_139170 c.T955C p.C319R nonsynonymous SNV - - - ○ - -

170 C17orf57 17 NM_001195192 c.1179_1192del p.393_398del frameshift deletion - - ○ - - -

171 C19orf38 19 NM_001136482 c.C242T p.A81V nonsynonymous SNV - - ○ - - -

172 C19orf50 19 NM_001171949 c.T126A p.N42K nonsynonymous SNV ○ - - - - -

173 C1orf141 1 NM_001013674 c.1017_1021del p.339_341del frameshift deletion - ○ - - - -

174 C1QTNF1 17 NM_198593 c.C56T p.A19V nonsynonymous SNV - - - - ○ -

175 C1QTNF7 4 NM_031911 c.T803C p.F268S nonsynonymous SNV - - - - ○ -

176 C20orf194 20 NM_001009984 c.G3245A p.R1082Q nonsynonymous SNV ○ - - - - -

177 C20orf203 20 NM_182584 c.C133T p.R45W nonsynonymous SNV - - - ○ - -

178 C2orf44 2 NM_025203 c.1592_1609del p.531_537del nonframeshift deletion - - - ○ - -

179 C2orf54 2 NM_001085437 c.G124A p.V42M nonsynonymous SNV ○ - - - - -

180 C2orf61 2 NM_001163561 c.G133A p.A45T nonsynonymous SNV - - ○ - - -

181 C3 19 NM_000064 c.C2700G p.I900M nonsynonymous SNV - - - ○ - -

182 C3orf55 3 NM_001099777 c.C319T p.R107W nonsynonymous SNV - ○ - - - -

183 C3orf77 3 NM_001145030 c.T280C p.S94P nonsynonymous SNV - - ○ - - -

184 C5orf34 5 NM_198566 c.C245T p.P82L nonsynonymous SNV ○ - - - - -

185 C5orf42 5 NM_023073 c.C1115T p.T372M nonsynonymous SNV ○ - - - - -

186 C6orf163 6 NM_001010868 c.G958C p.V320L nonsynonymous SNV ○ - - - - -

187 C6orf165 6 NM_001031743 c.A964G p.I322V nonsynonymous SNV - - ○ - - -

188 C7orf65 7 NM_001123065 c.A241C p.I81L nonsynonymous SNV - - ○ - - -

189 C9orf102 9 NM_001010895 c.C1989G p.H663Q nonsynonymous SNV - - - - ○ -

190 C9orf171 9 NM_207417 c.645_647del p.215_216del nonframeshift deletion - ○ - - - -

191 CACNA1S 1 NM_000069 c.C2467T p.R823W nonsynonymous SNV - - ○ - - -

192 CACNB3 12 NM_001206915 c.C1055G p.S352C nonsynonymous SNV - ○ - - - -

193 CACNG6 19 NM_145815 c.43_44insG p.R15fs frameshift insertion - - - ○

194 CALCA 11 NM_001033953 c.C94G p.L32V nonsynonymous SNV - - ○ - - -

CALCA 11 NM_001033953 c.G91C p.A31P nonsynonymous SNV - - ○ - - -

195 CAMK1G 1 NM_020439 c.A976G p.S326G nonsynonymous SNV - ○ - - - -

196 CAPN11 6 NM_007058 c.1914_1915insT p.L638fs frameshift insertion - - ○ - - -

197 CAPN14 2 NM_001145122 c.727_729del p.243_243del nonframeshift deletion - - - ○

198 CARD8 19 NM_001184901 c.292_293insAA p.V98fs frameshift insertion - - - ○

199 CASC4 15 NM_177974 c.A200G p.N67S nonsynonymous SNV - - - ○ - -

200 CASP8AP2 6 NM_001137667 c.C1718G p.P573R nonsynonymous SNV - - - - ○ -

CASP8AP2 6 NM_012115 c.4698delG p.L1566fs frameshift deletion - - - - ○ -

201 CATSPER1 11 NM_053054 c.G310A p.A104T nonsynonymous SNV - - - - ○ -

202 CC2D2A 4 NM_001080522 c.4842_4845del p.1614_1615del frameshift deletion ○ - - - - -

203 CCDC102B 18 NM_001093729 c.C176G p.A59G nonsynonymous SNV ○ - - - - -

204 CCDC104 2 NM_080667 c.C814T p.R272X stopgain SNV - - - ○

205 CCDC108 2 NM_194302 c.T1940C p.F647S nonsynonymous SNV - - - ○

206 CCDC39 3 NM_181426 c.2661_2662insT p.L887fs frameshift insertion ○ - - - - -

207 CCDC61 19 NM_001080402 c.T100G p.W34G nonsynonymous SNV - - ○ - - -

208 CCDC78 16 NM_001031737 c.G668A p.R223H nonsynonymous SNV - - ○ - - -

(7)

209 CCDC96 4 NM_153376 c.A938C p.K313T nonsynonymous SNV - - ○ - - -

210 CCL17 16 NM_002987 c.A116T p.K39M nonsynonymous SNV ○ - - - - -

211 CCNE2 8 NM_057749 c.125_126insA p.R42fs frameshift insertion - - - ○ - -

212 CCT4 2 NM_006430 c.G1168T p.V390F nonsynonymous SNV - - - ○ - -

213 CD109 6 NM_133493 c.A1862C p.Y621S nonsynonymous SNV - - - ○ - -

214 CDC42BPA 1 NM_014826 c.G4777A p.D1593N nonsynonymous SNV - ○ - - - -

215 CDKN2AIP 4 NM_017632 c.G163A p.A55T nonsynonymous SNV - - ○ - - -

216 CEACAM7 19 NM_006890 c.G475A p.E159K nonsynonymous SNV ○ - - - - -

217 CEACAM8 19 NM_001816 c.A590G p.N197S nonsynonymous SNV - - - - ○ -

218 CEBPZ 2 NM_005760 c.G1409A p.R470Q nonsynonymous SNV - - ○ - - -

219 CEL 9 NM_001807 c.C2176G p.P726A nonsynonymous SNV - ○ - - - -

220 CEP152 15 NM_001194998 c.T2878C p.W960R nonsynonymous SNV - ○ - - - -

221 CEP76 18 NM_024899 c.G1327T p.V443F nonsynonymous SNV - - - ○ - -

222 CHD6 20 NM_032221 c.A4871C p.Q1624P nonsynonymous SNV - - - ○

223 CHD7 8 NM_017780 c.G8615C p.G2872A nonsynonymous SNV ○ - - - - -

224 CHIC2 4 NM_012110 c.C411G p.S137R nonsynonymous SNV - - ○ - - -

225 CHL1 3 NM_006614 c.C3131T p.T1044I nonsynonymous SNV - - - ○ - -

226 CHML 1 NM_001821 c.A1606G p.T536A nonsynonymous SNV - - - ○ - -

227 CHRD 3 NM_003741 c.C2608T p.R870W nonsynonymous SNV - ○ - - - -

228 CHTF18 16 NM_022092 c.C1210T p.R404C nonsynonymous SNV - - - ○ - -

229 CILP 15 NM_003613 c.G3527C p.R1176T nonsynonymous SNV - ○ - - - -

230 CKM 19 NM_001824 c.G109A p.E37K nonsynonymous SNV - - - ○ - -

231 CLASP1 2 NM_001207051 c.G3506A p.G1169E nonsynonymous SNV - - ○ - - -

232 CLCA4 1 NM_012128 c.C2234A p.P745Q nonsynonymous SNV - - - ○ - -

233 CLCN2 3 NM_001171087 c.1884_1885insCCG p.R628delinsRR nonframeshift insertion ○ - - - - -

234 CLDN17 21 NM_012131 c.G358C p.G120R nonsynonymous SNV - - - ○ - -

235 CLDN24 4 NM_001185149 c.C91T p.P31S nonsynonymous SNV - - ○ - - -

236 CLEC11A 19 NM_002975 c.819_820insGCCCA p.G273fs frameshift insertion ○ - - - - -

237 CLN6 15 NM_017882 c.A425G p.Y142C nonsynonymous SNV - - - ○ - -

238 CLSPN 1 NM_022111 c.3595_3597del p.1199_1199del nonframeshift deletion - ○ - - - -

239 CLSTN2 3 NM_022131 c.G2294A p.R765Q nonsynonymous SNV - ○ - - - -

240 CNN2 19 NM_201277 c.C185T p.T62I nonsynonymous SNV - ○ - - - -

241 CNTN6 3 NM_014461 c.G1822A p.D608N nonsynonymous SNV - - ○ - - -

242 COBLL1 2 NM_014900 c.T1376C p.I459T nonsynonymous SNV - - - ○ - -

243 COG5 7 NM_001161520 c.C407T p.T136M nonsynonymous SNV - - - ○

244 COL1A2 7 NM_000089 c.T1536G p.H512Q nonsynonymous SNV - - - ○

245 COL22A1 8 NM_152888 c.A2399C p.K800T nonsynonymous SNV - - - ○ - -

246 COL4A4 2 NM_000092 c.G778A p.V260I nonsynonymous SNV - - ○ - - -

247 COL5A1 9 NM_000093 c.G5263A p.A1755T nonsynonymous SNV - - - ○

248 COL6A3 2 NM_004369 c.T4085A p.F1362Y nonsynonymous SNV - - - ○ - -

249 COL8A2 1 NM_005202 c.G585T p.E195D nonsynonymous SNV - - ○ - - -

250 CORIN 4 NM_006587 c.C2345A p.S782Y nonsynonymous SNV ○ - - - - -

251 CPA2 7 NM_001869 c.T345G p.S115R nonsynonymous SNV ○ - - - - -

252 CPAMD8 19 NM_015692 c.G572A p.R191Q nonsynonymous SNV - - ○ - - -

253 CPNE1 20 NM_152925 c.1204_1205insT p.A402fs frameshift insertion ○ - - - - -

254 CPT1A 11 NM_001031847 c.G1340A p.R447Q nonsynonymous SNV - - ○ - - -

255 CRISP3 6 NM_001190986 c.A371C p.Y124S nonsynonymous SNV - - - ○ - -

256 CRNKL1 20 NM_016652 c.T2258C p.M753T nonsynonymous SNV - - - ○ - -

257 CTCFL 20 NM_080618 c.A1435G p.T479A nonsynonymous SNV - - ○ - - -

258 CTDP1 18 NM_048368 c.C2374T p.P792S nonsynonymous SNV ○ - - - - -

259 CTTNBP2 7 NM_033427 c.4787_4789del p.1596_1597del nonframeshift deletion - - - ○

260 CUX1 7 NM_001202543 c.G3815A p.R1272Q nonsynonymous SNV - - - ○ - -

261 CXorf22 X NM_152632 c.C1432T p.P478S nonsynonymous SNV - - - ○

262 CYLC2 9 NM_001340 c.A1G p.M1V nonsynonymous SNV - ○ - - - -

263 CYP2C8 10 NM_001198854 c.T728C p.M243T nonsynonymous SNV - ○ - - - -

264 CYP4F8 19 NM_007253 c.C97T p.R33C nonsynonymous SNV - - ○ - - -

265 DACT2 6 NM_214462 c.C755T p.P252L nonsynonymous SNV - ○ - - - -

266 DBF4 7 NM_006716 c.A1655G p.H552R nonsynonymous SNV ○ - - - - -

267 DBNDD2 20 NM_001197140 c.G473C p.G158A nonsynonymous SNV - - ○ - - -

268 DCHS2 4 NM_017639 c.6180_6181insAAC p.T2060delinsTT nonframeshift insertion - - ○ - - -

269 DDRGK1 20 NM_023935 c.G440A p.R147Q nonsynonymous SNV - - - ○

270 DGCR2 22 NM_001173534 c.G919A p.V307I nonsynonymous SNV - - - ○ - -

271 DHDDS 1 NM_001243564 c.C867A p.D289E nonsynonymous SNV - - - ○ - -

272 DLGAP2 8 NM_004745 c.A398C p.Q133P nonsynonymous SNV - - - ○ - -

273 DMBT1 10 NM_007329 c.C683A p.S228Y nonsynonymous SNV ○ - - - - -

274 DNAAF1 16 NM_178452 c.T1808C p.L603P nonsynonymous SNV - - - ○ - -

275 DNAH14 1 NM_001373 c.A9725G p.E3242G nonsynonymous SNV - - ○ - - -

276 DNAH9 17 NM_001372 c.A7471G p.K2491E nonsynonymous SNV - - - ○ - -

277 DNAJB12 10 NM_001002762 c.A152C p.K51T nonsynonymous SNV - - - ○ - -

278 DNAJB3 2 NM_001001394 c.C199T p.R67C nonsynonymous SNV - ○ - - - -

279 DNAJC13 3 NM_015268 c.T4343C p.V1448A nonsynonymous SNV - - - ○ - -

280 DNAJC28 21 NM_017833 c.A656G p.N219S nonsynonymous SNV - - ○ - - -

281 DNAJC4 11 NM_005528 c.C208T p.P70S nonsynonymous SNV - ○ - - - -

282 DNAJC7 17 NM_001144766 c.T108A p.D36E nonsynonymous SNV - - - ○ - -

283 DNHD1 11 NM_144666 c.C13264T p.P4422S nonsynonymous SNV - ○ - - - -

284 DPH1 17 NM_001383 c.C1191G p.N397K nonsynonymous SNV - - ○ - - -

285 DSCC1 8 NM_024094 c.T725C p.I242T nonsynonymous SNV - - - ○ - -

286 DYDC2 10 NM_032372 c.T89C p.I30T nonsynonymous SNV - - - ○ - -

287 DYNC1H1 14 NM_001376 c.A4148G p.Y1383C nonsynonymous SNV - - ○ - - -

288 DYNC1I1 7 NM_001135557 c.G662T p.R221L nonsynonymous SNV - - - ○

289 DYNC1LI1 3 NM_016141 c.C1009A p.H337N nonsynonymous SNV - - - ○ - -

290 DYNC2H1 11 NM_001377 c.T9814A p.L3272I nonsynonymous SNV - - ○ - - -

291 EDEM3 1 NM_025191 c.G1573A p.D525N nonsynonymous SNV - - - ○ - -

292 EEFSEC 3 NM_021937 c.C1111G p.Q371E nonsynonymous SNV - - ○ - - -

293 EFCAB4B 12 NM_001144958 c.G1927A p.V643M nonsynonymous SNV - - - ○

294 EFNA3 1 NM_004952 c.208_219del p.70_73del nonframeshift deletion ○ - - - - -

295 EFNA4 1 NM_182690 c.C472T p.L158F nonsynonymous SNV - - - ○ - -

296 EFTUD1 15 NM_024580 c.A2326G p.M776V nonsynonymous SNV - - - - ○ -

297 EIF2AK2 2 NM_001135651 c.A268G p.T90A nonsynonymous SNV - - - ○ - -

298 EIF4G1 3 NM_001194947 c.1416_1424del p.472_475del nonframeshift deletion ○ - - - - -

299 EIF5B 2 NM_015904 c.1478_1478del p.493_493del frameshift deletion ○ - - - - -

300 ELMO3 16 NM_024712 c.C1036A p.L346M nonsynonymous SNV - - ○ - - -

(8)

301 ELN 7 NM_001081753 c.G1612A p.G538R nonsynonymous SNV ○ - - - - -

302 EMR1 19 NM_001974 c.A1129G p.T377A nonsynonymous SNV - - - ○

303 ENO2 12 NM_001975 c.C799T p.P267S nonsynonymous SNV - ○ - - - -

304 EP300 22 NM_001429 c.A1666G p.M556V nonsynonymous SNV - - - ○

305 EPB42 15 NM_000119 c.T99A p.D33E nonsynonymous SNV - - - ○

306 EPHX1 1 NM_001136018 c.G445A p.G149S nonsynonymous SNV ○ - - - - -

307 EPPK1 8 NM_031308 c.G7132C p.D2378H nonsynonymous SNV - - - ○

EPPK1 8 NM_031308 c.G7091A p.R2364Q nonsynonymous SNV - - - ○

308 EPX 17 NM_000502 c.A1552G p.I518V nonsynonymous SNV - ○ - - - -

309 ERCC6L X NM_017669 c.A148G p.I50V nonsynonymous SNV ○ - - - - -

310 ERP44 9 NM_015051 c.G589C p.D197H nonsynonymous SNV ○ - - - - -

311 ESYT2 7 NM_020728 c.C592T p.R198W nonsynonymous SNV - ○ - - - -

312 ETS1 11 NM_005238 c.C631T p.R211X stopgain SNV - - - - ○ -

313 F2RL1 5 NM_005242 c.G706C p.V236L nonsynonymous SNV - - ○ - - -

314 FADD 11 NM_003824 c.G307A p.V103I nonsynonymous SNV - ○ - - - -

315 FAM120C X NM_017848 c.2989delG p.E997fs frameshift deletion - ○ - - - -

316 FAM134A 2 NM_024293 c.C1355A p.P452Q nonsynonymous SNV - - - ○ - -

317 FAM161A 2 NM_001201543 c.G686A p.R229Q nonsynonymous SNV - - - - ○ -

318 FAM167A 8 NM_053279 c.A616G p.I206V nonsynonymous SNV ○ - - - - -

319 FAM43A 3 NM_153690 c.A176G p.K59R nonsynonymous SNV - - - ○

320 FAM53C 5 NM_001135647 c.A20T p.E7V nonsynonymous SNV - - - ○ - -

321 FAM71B 5 NM_130899 c.C1402T p.R468W nonsynonymous SNV ○ - - - - -

322 FAM75C1 9 NM_001145124 c.C3466T p.R1156X stopgain SNV - - - ○ - -

323 FAM75D3 9 NM_207416 c.A2734T p.I912L nonsynonymous SNV - - ○ - - -

324 FAM83D 20 NM_030919 c.327_328insGCG p.G109delinsGA nonframeshift insertion - ○ - - - -

325 FAM83H 8 NM_198488 c.G793C p.E265Q nonsynonymous SNV ○ - - - - -

326 FAM86C1 11 NM_001099653 c.C254T p.A85V nonsynonymous SNV - ○ - - - -

327 FAM98A 2 NM_015475 c.G1220T p.G407V nonsynonymous SNV - - - ○

328 FAM98C 19 NM_174905 c.1029_1030insAAG p.R343delinsRK nonframeshift insertion - - - ○ - -

329 FAT1 4 NM_005245 c.3200_3202del p.1067_1068del nonframeshift deletion - - - ○

330 FAT2 5 NM_001447 c.C5138T p.S1713F nonsynonymous SNV - - - ○

331 FBL 19 NM_001436 c.C548T p.P183L nonsynonymous SNV - - - ○ - -

332 FBLN2 3 NM_001998 c.C3454T p.R1152W nonsynonymous SNV - - - - ○ -

333 FBP2 9 NM_003837 c.C395T p.S132F nonsynonymous SNV - - - ○ - -

334 FBXL14 12 NM_152441 c.C1201T p.R401X stopgain SNV - - ○ - - -

335 FBXL21 5 NM_012159 c.90_91insA p.L30fs frameshift insertion - - - - ○ -

336 FBXW7 4 NM_033632 c.C409T p.H137Y nonsynonymous SNV ○ - - - - -

337 FCER2 19 NM_001220500 c.489_493del p.163_165del frameshift deletion - - - ○ - -

338 FDX1L 19 NM_001031734 c.110_111insG p.V37fs frameshift insertion - - - ○ - -

339 FERMT2 14 NM_001134999 c.C402A p.H134Q nonsynonymous SNV - - - - ○ -

340 FGFR2 10 NM_001144918 c.C863T p.T288M nonsynonymous SNV ○ - - - - -

341 FIGNL1 7 NM_001042762 c.T1742C p.M581T nonsynonymous SNV ○ - - - - -

342 FILIP1 6 NM_015687 c.3542delT p.L1181fs frameshift deletion - ○ - - - -

343 FLJ42280 7 NM_001201451 c.A326G p.Y109C nonsynonymous SNV - - ○ - - -

344 FMN2 1 NM_020066 c.A5012T p.D1671V nonsynonymous SNV - - - ○ - -

345 FOXA3 19 NM_004497 c.C743A p.T248N nonsynonymous SNV - - ○ - - -

346 FOXD4 9 NM_207305 c.C604T p.R202C nonsynonymous SNV - - ○ - - -

347 FOXD4L1 2 NM_012184 c.225_226insGGC p.E75delinsEG nonframeshift insertion - - - ○ - -

348 FREM3 4 NM_001168235 c.425_426insTGCTGC p.Q142delinsLLQ nonframeshift insertion - - - ○ - -

349 FRYL 4 NM_015030 c.A6193C p.K2065Q nonsynonymous SNV - - - ○ - -

350 FRZB 2 NM_001463 c.C692T p.P231L nonsynonymous SNV - - - ○ - -

351 FZD10 12 NM_007197 c.C726A p.S242R nonsynonymous SNV - - - ○ - -

352 G6PC 17 NM_000151 c.461delT p.I154fs frameshift deletion - - ○ - - -

353 GALC 14 NM_001201401 c.A853T p.N285Y nonsynonymous SNV - - ○ - - -

354 GALNT13 2 NM_052917 c.T1007C p.V336A nonsynonymous SNV - - - ○

355 GALNTL1 14 NM_020692 c.827_829del p.276_277del nonframeshift deletion ○ - - - - -

356 GATA6 18 NM_005257 c.1449_1450insA p.M483fs frameshift insertion - - ○ - - -

357 GBA2 9 NM_020944 c.A25C p.M9L nonsynonymous SNV - - ○ - - -

358 GLI2 2 NM_005270 c.G4115A p.R1372Q nonsynonymous SNV - - ○ - - -

359 GLIPR1L2 12 NM_152436 c.C432G p.Y144X stopgain SNV ○ - - - - -

360 GNB1L 22 NM_053004 c.G350A p.R117Q nonsynonymous SNV - - ○ - - -

361 GNB3 12 NM_002075 c.C494G p.T165R nonsynonymous SNV - ○ - - - -

362 GNPAT 1 NM_014236 c.A1082G p.D361G nonsynonymous SNV - ○ - - - -

363 GOLGA6B 15 NM_018652 c.G1035T p.M345I nonsynonymous SNV - ○ - - - -

364 GOLGB1 3 NM_004487 c.T8228C p.L2743S nonsynonymous SNV - - ○ - - -

365 GON4L 1 NM_032292 c.G4085C p.S1362T nonsynonymous SNV - - - ○ - -

366 GP1BA 17 NM_000173 c.1285delG p.E429fs frameshift deletion - - - ○

367 GPR110 6 NM_153840 c.A185C p.K62T nonsynonymous SNV - - - - ○ -

368 GPR112 X NM_153834 c.T2083C p.Y695H nonsynonymous SNV - - - ○

369 GPR179 17 NM_001004334 c.G5812A p.D1938N nonsynonymous SNV - - ○ - - -

GPR179 17 NM_001004334 c.C2639A p.A880D nonsynonymous SNV - - ○ - - -

370 GPR182 12 NM_007264 c.55_65del p.19_22del frameshift deletion ○ - - - - -

371 GPR98 5 NM_032119 c.G14405A p.R4802Q nonsynonymous SNV - - - ○

372 GRB10 7 NM_001001555 c.G871A p.A291T nonsynonymous SNV - - - ○ - -

373 GREB1 2 NM_014668 c.G4246A p.D1416N nonsynonymous SNV - - ○ - - -

374 GRHPR 9 NM_012203 c.G512A p.R171H nonsynonymous SNV - - - ○ - -

375 GRID2IP 7 NM_001145118 c.T1328C p.V443A nonsynonymous SNV - - - ○ - -

376 GRIN3A 9 NM_133445 c.G2181T p.L727F nonsynonymous SNV - - - - ○ -

377 GSN 9 NM_001127664 c.G1939A p.V647I nonsynonymous SNV - - ○ - - -

378 GTPBP4 10 NM_012341 c.G411A p.M137I nonsynonymous SNV - - ○ - - -

379 GTPBP5 20 NM_015666 c.G841A p.G281S nonsynonymous SNV - - - - ○ -

380 HARS2 5 NM_012208 c.G546C p.Q182H nonsynonymous SNV - ○ - - - -

381 HCAR3 12 NM_006018 c.1086_1087insTCCTT p.S362fs frameshift insertion - - - ○ - -

382 HERC1 15 NM_003922 c.A4984G p.S1662G nonsynonymous SNV - - ○ - - -

383 HIC1 17 NM_001098202 c.C1689A p.F563L nonsynonymous SNV ○ - - - - -

384 HIC2 22 NM_015094 c.C500T p.T167M nonsynonymous SNV - - - ○ - -

385 HILPDA 7 NM_001098786 c.167_168insA p.P56fs frameshift insertion - - ○ - - -

386 HIP1R 12 NM_003959 c.C1939T p.H647Y nonsynonymous SNV - ○ - - - -

387 HIST1H1D 6 NM_005320 c.G22A p.A8T nonsynonymous SNV - - - ○

388 HIST1H2BE 6 NM_003523 c.G180A p.M60I nonsynonymous SNV - - ○ - - -

389 HIST1H2BG 6 NM_003518 c.C272T p.T91I nonsynonymous SNV - - ○ - - -

390 HNRNPM 19 NM_031203 c.1127_1135del p.376_379del nonframeshift deletion - - ○ - - -

(9)

391 HOXA1 7 NM_153620 c.C393G p.I131M nonsynonymous SNV - - - ○

392 HOXB3 17 NM_002146 c.A862T p.S288C nonsynonymous SNV - - - - ○ -

393 HS3ST4 16 NM_006040 c.G1076A p.R359Q nonsynonymous SNV - - - ○ - -

394 HSD17B12 11 NM_016142 c.T845A p.I282N nonsynonymous SNV - - - - ○ -

395 HSF5 17 NM_001080439 c.203_204insGGGCCG p.E68delinsGAE nonframeshift insertion - - - - ○ -

396 HUS1 7 NM_004507 c.C401T p.P134L nonsynonymous SNV - - ○ - - -

397 IDO2 8 NM_194294 c.G901T p.E301X stopgain SNV - - ○ - - -

398 IER5L 9 NM_203434 c.906_919del p.302_307del frameshift deletion - ○ - - - -

399 IFIT1 10 NM_001548 c.A1376G p.Y459C nonsynonymous SNV ○ - - - - -

400 IFT122 3 NM_052990 c.C653T p.A218V nonsynonymous SNV - - ○ - - -

401 IGDCC4 15 NM_020962 c.G3554A p.G1185E nonsynonymous SNV - - - ○ - -

402 IGSF10 3 NM_178822 c.2833_2835del p.945_945del nonframeshift deletion - - - ○ - -

403 IL10RA 11 NM_001558 c.C1012A p.P338T nonsynonymous SNV - - ○ - - -

404 IL28RA 1 NM_170743 c.A677G p.N226S nonsynonymous SNV - - - ○

405 INO80E 16 NM_173618 c.G370A p.G124R nonsynonymous SNV - - ○ - - -

406 INTS10 8 NM_018142 c.C374T p.T125M nonsynonymous SNV - - - ○ - -

407 IPO13 1 NM_014652 c.A1822T p.K608X stopgain SNV - - - ○ - -

408 IQCD 12 NM_138451 c.967_969del p.323_323del nonframeshift deletion - - ○ - - -

409 IQGAP2 5 NM_006633 c.G1958A p.R653H nonsynonymous SNV ○ - - - - -

410 IQSEC1 3 NM_001134382 c.A751G p.T251A nonsynonymous SNV ○ - - - - -

411 IRAK1 X NM_001025242 c.C911T p.T304I nonsynonymous SNV - - - ○

412 IRS1 2 NM_005544 c.C3661T p.R1221C nonsynonymous SNV - - - ○ - -

413 IRX6 16 NM_024335 c.620_622del p.207_208del nonframeshift deletion - - ○ - - -

414 ITGA5 12 NM_002205 c.C1718G p.T573S nonsynonymous SNV - - ○ - - -

415 ITGA7 12 NM_001144996 c.G3053A p.R1018Q nonsynonymous SNV - - - ○

416 ITGA9 3 NM_002207 c.C850G p.R284G nonsynonymous SNV - - - ○ - -

417 ITPRIPL1 2 NM_001163524 c.938delG p.W313fs frameshift deletion - - - - ○ -

418 IZUMO2 19 NM_152358 c.C511T p.R171C nonsynonymous SNV ○ - - - - -

419 JARID2 6 NM_004973 c.A342C p.Q114H nonsynonymous SNV - - ○ - - -

420 JMJD1C 10 NM_004241 c.A1046T p.D349V nonsynonymous SNV - ○ - - - -

421 KBTBD12 3 NM_207335 c.T897G p.F299L nonsynonymous SNV - - - ○ - -

422 KCNA10 1 NM_005549 c.A467G p.N156S nonsynonymous SNV - - - ○

423 KCNK10 14 NM_138318 c.C679T p.R227X stopgain SNV - - ○ - - -

424 KCNMA1 10 NM_001014797 c.138_139insCTC p.S46delinsSS nonframeshift insertion - - - ○ - -

425 KCNN3 1 NM_001204087 c.111_112insGCA p.Q37delinsQQ nonframeshift insertion - - ○ - - -

426 KCTD3 1 NM_016121 c.C1870G p.R624G nonsynonymous SNV - - ○ - - -

427 KDM2B 12 NM_032590 c.C3151G p.P1051A nonsynonymous SNV - - ○ - - -

428 KDR 4 NM_002253 c.G3908A p.S1303N nonsynonymous SNV ○ - - - - -

429 KIAA0146 8 NM_001080394 c.T947A p.M316K nonsynonymous SNV - - ○ - - -

KIAA0146 8 NM_001080394 c.C1208T p.P403L nonsynonymous SNV - - ○ - - -

430 KIAA0415 7 NM_014855 c.G536A p.R179Q nonsynonymous SNV - ○ - - - -

431 KIAA0586 14 NM_001244190 c.G4156A p.G1386S nonsynonymous SNV ○ - - - - -

432 KIAA1009 6 NM_014895 c.C1221A p.D407E nonsynonymous SNV - - - ○ - -

433 KIAA1161 9 NM_020702 c.41_42insC p.R14fs frameshift insertion - - - ○ - -

434 KIAA1199 15 NM_018689 c.4068_4070del p.1356_1357del nonframeshift deletion - ○ - - - -

435 KIAA1456 8 NM_001099677 c.G166A p.G56R nonsynonymous SNV - - ○ - - -

436 KIAA1467 12 NM_020853 c.C341T p.S114L nonsynonymous SNV - - ○ - - -

437 KIAA1522 1 NM_001198972 c.C715T p.R239C nonsynonymous SNV - - - ○ - -

438 KIAA1530 4 NM_020894 c.C1276T p.R426W nonsynonymous SNV - - - - ○ -

439 KIAA1751 1 NM_001080484 c.A1862G p.D621G nonsynonymous SNV - - - ○

440 KIF1A 2 NM_001244008 c.G3703A p.D1235N nonsynonymous SNV - - - ○ - -

441 KIF27 9 NM_017576 c.A532G p.S178G nonsynonymous SNV - - - ○ - -

442 KLC3 19 NM_177417 c.1273_1275del p.425_425del nonframeshift deletion - - - - ○ -

443 KLC4 6 NM_201522 c.G682A p.E228K nonsynonymous SNV - - ○ - - -

444 KLK15 19 NM_017509 c.G689A p.C230Y nonsynonymous SNV - - - ○ - -

445 KPNA5 6 NM_002269 c.247_249del p.83_83del nonframeshift deletion - - ○ - - -

446 KPRP 1 NM_001025231 c.G1364A p.C455Y nonsynonymous SNV - - ○ - - -

447 KRBA1 7 NM_032534 c.A430G p.T144A nonsynonymous SNV - - ○ - - -

KRBA1 7 NM_032534 c.G2530T p.A844S nonsynonymous SNV - - ○ - - -

448 KRI1 19 NM_023008 c.A2021G p.E674G nonsynonymous SNV - - - ○ - -

449 KRR1 12 NM_007043 c.A84T p.Q28H nonsynonymous SNV - - - - ○ -

450 KRT33A 17 NM_004138 c.G1208C p.G403A nonsynonymous SNV ○ - - - - -

451 KRT33B 17 NM_002279 c.G77A p.C26Y nonsynonymous SNV - - - ○

452 KRT5 12 NM_000424 c.C1171T p.R391W nonsynonymous SNV - - - - ○ -

453 KRT7 12 NM_005556 c.G415A p.D139N nonsynonymous SNV - - - ○

454 KRT76 12 NM_015848 c.C1280T p.T427M nonsynonymous SNV - - ○ - - -

455 KRT78 12 NM_173352 c.C1235T p.T412I nonsynonymous SNV - - - ○ - -

456 KRTAP10-1 21 NM_198691 c.78_80del p.26_27del nonframeshift deletion - - ○ - - -

457 KRTAP1-5 17 NM_031957 c.396delC p.P132fs frameshift deletion - - - - ○ -

458 KRTAP4-7 17 NM_033061 c.C91G p.Q31E nonsynonymous SNV - - ○ - - -

459 KRTAP4-9 17 NM_001146041 c.G119A p.C40Y nonsynonymous SNV - - - ○

460 KRTAP5-8 11 NM_021046 c.T457A p.C153S nonsynonymous SNV - - - ○

461 KSR1 17 NM_014238 c.C629T p.T210M nonsynonymous SNV - - - ○

462 KSR2 12 NM_173598 c.C830T p.T277I nonsynonymous SNV - - - ○ - -

463 LAMC3 9 NM_006059 c.C1693A p.P565T nonsynonymous SNV - - ○ - - -

464 LASP1 17 NM_006148 c.A548G p.Y183C nonsynonymous SNV - - - ○ - -

465 LDHAL6B 15 NM_033195 c.964_965insTT p.V322fs frameshift insertion - - ○ - - -

466 LEMD2 6 NM_181336 c.A923G p.Y308C nonsynonymous SNV - - ○ - - -

467 LEPREL2 12 NM_014262 c.C820T p.R274X stopgain SNV ○ - - - - -

468 LGALS8 1 NM_201544 c.A297C p.R99S nonsynonymous SNV - - - ○ - -

469 LGALS9C 17 NM_001040078 c.397delA p.T133fs frameshift deletion ○ - - - - -

470 LILRA6 19 NM_024318 c.G10A p.A4T nonsynonymous SNV - ○ - - - -

471 LIPA 10 NM_001127605 c.C309A p.S103R nonsynonymous SNV - - ○ - - -

472 LIPJ 10 NM_001010939 c.A257G p.N86S nonsynonymous SNV - ○ - - - -

473 LOC100129924 1 NM_001242750 c.613delG p.V205fs frameshift deletion - - ○ - - -

474 LOC100509575 X NM_001205103 c.A218G p.N73S nonsynonymous SNV - - - ○ - -

475 LOXL2 8 NM_002318 c.C565T p.R189X stopgain SNV - - - ○ - -

476 LOXL3 2 NM_032603 c.T868A p.S290T nonsynonymous SNV ○ - - - - -

477 LPO 17 NM_001160102 c.T1475C p.L492P nonsynonymous SNV - - ○ - - -

478 LRRC16A 6 NM_017640 c.C1045G p.L349V nonsynonymous SNV ○ - - - - -

479 LRRC16B 14 NM_138360 c.C3251A p.P1084H nonsynonymous SNV ○ - - - - -

480 LRRC30 18 NM_001105581 c.G50A p.R17K nonsynonymous SNV - - - - ○ -

(10)

481 LRRC4B 19 NM_001080457 c.G619A p.V207I nonsynonymous SNV ○ - - - - -

482 LRRC72 7 NM_001195280 c.C28T p.R10C nonsynonymous SNV - - ○ - - -

483 LRRIQ4 3 NM_001080460 c.A1496T p.K499M nonsynonymous SNV - - - ○

484 LRRN4 20 NM_152611 c.C2077G p.L693V nonsynonymous SNV - - - ○ - -

485 LRRTM3 10 NM_178011 c.858delT p.D286fs frameshift deletion - - ○ - - -

486 LRSAM1 9 NM_138361 c.G695A p.R232Q nonsynonymous SNV - - - ○ - -

487 LTBP3 11 NM_001130144 c.106_107insCTGCTG p.G36delinsLLG nonframeshift insertion - ○ - - - -

488 LTBP4 19 NM_001042544 c.A476G p.N159S nonsynonymous SNV - - - - ○ -

489 LTF 3 NM_001199149 c.C1046T p.A349V nonsynonymous SNV - - - ○

490 LTN1 21 NM_015565 c.G909T p.Q303H nonsynonymous SNV - - - ○ - -

491 MACF1 1 NM_012090 c.C6929T p.A2310V nonsynonymous SNV - - - ○ - -

492 MADCAM1 19 NM_130760 c.A761C p.Q254P nonsynonymous SNV - - - - ○ -

493 MAGEA10 X NM_001251828 c.G1062T p.M354I nonsynonymous SNV - - - ○ - -

MAGEA10 X NM_001251828 c.T1061G p.M354R nonsynonymous SNV - - - ○ - -

494 MAGEA4 X NM_001011550 c.G917A p.R306H nonsynonymous SNV - - - ○

495 MAGEC2 X NM_016249 c.C229T p.P77S nonsynonymous SNV - - - ○

496 MALT1 18 NM_173844 c.T488G p.M163R nonsynonymous SNV ○ - - - - -

497 MAN1B1 9 NM_016219 c.G1682A p.R561Q nonsynonymous SNV - - ○ - - -

498 MAN1C1 1 NM_020379 c.C1289T p.P430L nonsynonymous SNV - - - ○ - -

499 MAP3K4 6 NM_005922 c.81_82insCCG p.P27delinsPP nonframeshift insertion - ○ - - - -

500 MAPKAP1 9 NM_001006618 c.G532A p.D178N nonsynonymous SNV - ○ - - - -

501 MAPKBP1 15 NM_014994 c.C2759G p.S920C nonsynonymous SNV - - - ○ - -

502 MARCH10 17 NM_001100875 c.C2260G p.L754V nonsynonymous SNV - - - ○

503 MARCO 2 NM_006770 c.G172T p.A58S nonsynonymous SNV ○ - - - - -

504 MATN2 8 NM_030583 c.G1934A p.R645Q nonsynonymous SNV - ○ - - - -

505 MC1R 16 NM_002386 c.84_85insA p.A28fs frameshift insertion - ○ - - - -

506 MC4R 18 NM_005912 c.G116A p.G39E nonsynonymous SNV - - ○ - - -

507 MCF2 X NM_001099855 c.G1507C p.V503L nonsynonymous SNV - - - - ○ -

508 MCHR2 6 NM_001040179 c.C494A p.A165E nonsynonymous SNV - - - ○ - -

509 MDN1 6 NM_014611 c.14361_14372del p.4787_4791del nonframeshift deletion - - ○ - - -

510 MDP1 14 NM_001199822 c.360_362del p.120_121del nonframeshift deletion - - ○ - - -

511 ME1 6 NM_002395 c.G990T p.K330N nonsynonymous SNV - - - ○

512 MED12 X NM_005120 c.279_280insC p.K93fs frameshift insertion - - - ○ - -

MED12 X NM_005120 c.5305_5308del p.1769_1770del frameshift deletion - - - ○ - -

513 MED15 22 NM_001003891 c.750_751insCAG p.Q250delinsQQ nonframeshift insertion - - ○ - - -

514 MED23 6 NM_004830 c.C2614T p.R872C nonsynonymous SNV ○ - - - - -

515 METAP1 4 NM_015143 c.A677G p.N226S nonsynonymous SNV ○ - - - - -

516 MFGE8 15 NM_005928 c.1001_1002insC p.Q334fs frameshift insertion - - - ○

517 MFSD6 2 NM_017694 c.C2321T p.P774L nonsynonymous SNV ○ - - - - -

518 MICALL1 22 NM_033386 c.T1031G p.L344R nonsynonymous SNV - - - ○

519 MKLN1 7 NM_013255 c.G2065T p.G689C nonsynonymous SNV - - - ○

520 MLL2 12 NM_003482 c.G659A p.G220E nonsynonymous SNV ○ - - - - -

521 MLL5 7 NM_182931 c.A3065G p.D1022G nonsynonymous SNV - - ○ - - -

522 MND1 4 NM_032117 c.G352T p.E118X stopgain SNV - - ○ - - -

523 MOGAT1 2 NM_058165 c.833delG p.R278fs frameshift deletion ○ - - - - -

524 MPDZ 9 NM_003829 c.A3022G p.T1008A nonsynonymous SNV - - - ○

MPDZ 9 NM_003829 c.A382T p.N128Y nonsynonymous SNV - - - ○

525 MPL 1 NM_005373 c.C1469G p.A490G nonsynonymous SNV - ○ - - - -

526 MPND 19 NM_001159846 c.G869A p.R290Q nonsynonymous SNV - - ○ - - -

527 MPP7 10 NM_173496 c.C1204T p.H402Y nonsynonymous SNV - ○ - - - -

528 MRS2 6 NM_020662 c.A1147G p.M383V nonsynonymous SNV - ○ - - - -

529 MSH2 2 NM_000251 c.T266C p.V89A nonsynonymous SNV - - - ○ - -

530 MTM1 X NM_000252 c.G877T p.G293X stopgain SNV - - ○ - - -

531 MYADM 19 NM_001020818 c.C182T p.T61M nonsynonymous SNV - - - - ○ -

532 MYBBP1A 17 NM_014520 c.T3831G p.H1277Q nonsynonymous SNV ○ - - - - -

533 MYBPC3 11 NM_000256 c.G3385C p.A1129P nonsynonymous SNV - ○ - - - -

534 MYCBPAP 17 NM_032133 c.2132_2146del p.711_716del nonframeshift deletion - - - ○

535 MYH14 19 NM_001077186 c.C559A p.Q187K nonsynonymous SNV - - - ○ - -

536 MYH15 3 NM_014981 c.C5479G p.L1827V nonsynonymous SNV - - ○ - - -

537 MYH4 17 NM_017533 c.C1272A p.Y424X stopgain SNV - - - ○ - -

538 MYH8 17 NM_002472 c.C605T p.A202V nonsynonymous SNV - - - ○ - -

539 MYL1 2 NM_079420 c.2_3insA p.M1fs frameshift insertion - - ○ - - -

540 MYO15A 17 NM_016239 c.4610_4612del p.1537_1538del nonframeshift deletion - - - ○ - -

541 MYO18B 22 NM_032608 c.G6854A p.G2285E nonsynonymous SNV - - ○ - - -

542 MYO1E 15 NM_004998 c.C1679T p.T560I nonsynonymous SNV - - - ○

543 MYO9B 19 NM_001130065 c.C334T p.R112C nonsynonymous SNV - ○ - - - -

544 MYOM3 1 NM_152372 c.C1297T p.P433S nonsynonymous SNV - ○ - - - -

545 MYRIP 3 NM_015460 c.C1234A p.P412T nonsynonymous SNV - - ○ - - -

546 NAAA 4 NM_001042402 c.G425A p.R142Q nonsynonymous SNV - - ○ - - -

547 NADK 1 NM_001198994 c.G1755C p.E585D nonsynonymous SNV ○ - - - - -

548 NARG2 15 NM_024611 c.T20A p.I7K nonsynonymous SNV - - - ○ - -

549 NBAS 2 NM_015909 c.C1501T p.R501X stopgain SNV ○ - - - - -

550 NBN 8 NM_002485 c.G866A p.W289X stopgain SNV - - - ○ - -

551 NCAM1 11 NM_000615 c.G1735A p.A579T nonsynonymous SNV - - ○ - - -

552 NCOA6 20 NM_014071 c.C5273A p.P1758H nonsynonymous SNV - - - ○

553 NDUFA6 22 NM_002490 c.T2A p.M1K nonsynonymous SNV - - ○ - - -

554 NDUFS3 11 NM_004551 c.G355A p.V119I nonsynonymous SNV - - - ○ - -

555 NECAB3 20 NM_031232 c.C773T p.P258L nonsynonymous SNV - - - ○

556 NEDD4L 18 NM_001144965 c.G724A p.A242T nonsynonymous SNV - - - ○ - -

557 NEIL3 4 NM_018248 c.168_169insAAT p.L56delinsLN nonframeshift insertion - - ○ - - -

558 NEK4 3 NM_001193533 c.C752T p.S251L nonsynonymous SNV ○ - - - - -

559 NINL 20 NM_025176 c.T809C p.L270P nonsynonymous SNV ○ - - - - -

560 NLGN4Y Y NM_001206850 c.552delC p.D184fs frameshift deletion - ○ - - - -

561 NLRP2 19 NM_001174083 c.C1690T p.R564X stopgain SNV - ○ - - - -

562 NME4 16 NM_005009 c.T340A p.Y114N nonsynonymous SNV - ○ - - - -

563 NOBOX 7 NM_001080413 c.G325A p.G109R nonsynonymous SNV - - - ○ - -

564 NOMO2 16 NM_173614 c.635delT p.L212fs frameshift deletion - - ○ - - -

565 NOP14 4 NM_003703 c.C2150A p.A717D nonsynonymous SNV - - - - ○ -

566 NOP56 20 NM_006392 c.T1042C p.Y348H nonsynonymous SNV - - - - ○ -

567 NOTCH2 1 NM_001200001 c.17_18del p.6_6del frameshift deletion - - ○ - - -

568 NOX1 X NM_013955 c.G1309T p.A437S nonsynonymous SNV - - ○ - - -

569 NRAP 10 NM_198060 c.G3199A p.E1067K nonsynonymous SNV - - - ○ - -

(11)

570 NRP2 2 NM_201266 c.G2317A p.E773K nonsynonymous SNV ○ - - - - -

571 NT5DC3 12 NM_001031701 c.A1338C p.R446S nonsynonymous SNV ○ - - - - -

572 NUAK1 12 NM_014840 c.A1249G p.I417V nonsynonymous SNV - ○ - - - -

573 NUBP2 16 NM_012225 c.278_281del p.93_94del frameshift deletion - - - ○ - -

574 NUCB2 11 NM_005013 c.C77G p.P26R nonsynonymous SNV - ○ - - - -

575 NUDT6 4 NM_007083 c.G23A p.G8D nonsynonymous SNV - - - ○ - -

576 NXPH3 17 NM_007225 c.G655A p.V219I nonsynonymous SNV - - - - ○ -

577 ODC1 2 NM_002539 c.G945A p.M315I nonsynonymous SNV ○ - - - - -

578 ODF3B 22 NM_001014440 c.623_624insAA p.T208fs frameshift insertion - - - ○

579 ODZ1 X NM_014253 c.G1621T p.E541X stopgain SNV - - ○ - - -

580 OLFML1 11 NM_198474 c.G317A p.R106Q nonsynonymous SNV - - - ○ - -

581 OLFML2A 9 NM_182487 c.C295T p.P99S nonsynonymous SNV - - - - ○ -

OLFML2A 9 NM_182487 c.A332G p.K111R nonsynonymous SNV - - - - ○ -

582 OPN5 6 NM_181744 c.T562A p.W188R nonsynonymous SNV - ○ - - - -

583 OPRK1 8 NM_000912 c.C873A p.H291Q nonsynonymous SNV - - ○ - - -

584 OR10G2 14 NM_001005466 c.G223A p.D75N nonsynonymous SNV - - - ○ - -

585 OR10S1 11 NM_001004474 c.C937A p.L313M nonsynonymous SNV - - ○ - - -

586 OR11H2 14 NM_001197287 c.G574A p.V192I nonsynonymous SNV ○ - - - - -

587 OR11L1 1 NM_001001959 c.G454C p.G152R nonsynonymous SNV - - - ○

588 OR1L3 9 NM_001005234 c.C733A p.L245I nonsynonymous SNV - - - ○ - -

589 OR2F2 7 NM_001004685 c.G220A p.A74T nonsynonymous SNV - - ○ - - -

590 OR4M2 15 NM_001004719 c.A23G p.K8R nonsynonymous SNV - - - ○ - -

591 OR51Q1 11 NM_001004757 c.C499T p.R167X stopgain SNV - - - ○

592 OR52H1 11 NM_001005289 c.A772G p.M258V nonsynonymous SNV - - - ○ - -

593 OR5H2 3 NM_001005482 c.95_103del p.32_35del nonframeshift deletion - - ○ - - -

594 OR6P1 1 NM_001160325 c.97_98insT p.A33fs frameshift insertion - - ○ - - -

595 OR8B3 11 NM_001005467 c.551_552insC p.L184fs frameshift insertion - ○ - - - -

596 OR8S1 12 NM_001005203 c.G950A p.W317X stopgain SNV - - ○ - - -

597 ORAI1 12 NM_032790 c.G655A p.A219T nonsynonymous SNV - - - - ○ -

598 OSBP2 22 NM_030758 c.T741G p.S247R nonsynonymous SNV - - - ○ - -

599 OSGIN1 16 NM_182981 c.C913T p.R305C nonsynonymous SNV - - ○ - - -

600 OSTC 4 NM_021227 c.C27G p.F9L nonsynonymous SNV ○ - - - - -

601 P2RX2 12 NM_170683 c.C625T p.H209Y nonsynonymous SNV - - - - ○ -

602 PAFAH2 1 NM_000437 c.C188A p.A63D nonsynonymous SNV - ○ - - - -

603 PAMR1 11 NM_015430 c.A542G p.Y181C nonsynonymous SNV - - - - ○ -

604 PAPPA 9 NM_002581 c.G4336A p.D1446N nonsynonymous SNV - - - ○ - -

605 PARD3 10 NM_001184791 c.A1252G p.I418V nonsynonymous SNV - - ○ - - -

606 PAX4 7 NM_006193 c.C767T p.P256L nonsynonymous SNV - - - ○ - -

607 PCCA 13 NM_001178004 c.G895C p.V299L nonsynonymous SNV - - ○ - - -

608 PCDH11Y Y NM_032973 c.G610A p.G204R nonsynonymous SNV - - ○ - - -

609 PCDH12 5 NM_016580 c.C163G p.R55G nonsynonymous SNV - - - ○ - -

610 PCDHA6 5 NM_018909 c.G1711A p.G571S nonsynonymous SNV ○ - - - - -

611 PCDHB1 5 NM_013340 c.G1303A p.E435K nonsynonymous SNV - - - ○ - -

612 PCDHB4 5 NM_018938 c.G1942C p.E648Q nonsynonymous SNV ○ - - - - -

613 PCDHB6 5 NM_018939 c.G609C p.E203D nonsynonymous SNV - ○ - - - -

614 PCDHB7 5 NM_018940 c.T1769C p.V590A nonsynonymous SNV - - - ○ - -

615 PCDHGA11 5 NM_018914 c.2060_2062del p.687_688del nonframeshift deletion ○ - - - - -

616 PCDHGA5 5 NM_018918 c.G1809A p.W603X stopgain SNV - - - ○ - -

617 PCDHGA6 5 NM_032086 c.A758T p.E253V nonsynonymous SNV - - - ○ - -

618 PCDHGA7 5 NM_032087 c.G1712A p.G571D nonsynonymous SNV - ○ - - - -

619 PCDHGB1 5 NM_032095 c.1452_1454del p.484_485del nonframeshift deletion - - ○ - - -

620 PCF11 11 NM_015885 c.C3052G p.L1018V nonsynonymous SNV - - - - ○ -

621 PCM1 8 NM_006197 c.C3869T p.S1290F nonsynonymous SNV - - ○ - - -

622 PCSK9 1 NM_174936 c.C791T p.T264I nonsynonymous SNV - - - ○ - -

623 PDE1B 12 NM_000924 c.C599T p.P200L nonsynonymous SNV - - ○ - - -

624 PEAR1 1 NM_001080471 c.C2611T p.R871C nonsynonymous SNV - - - ○ - -

625 PEG3 19 NM_001146185 c.1431_1432insACGTGA p.E477delinsERE nonframeshift insertion - - ○ - - -

626 PELI3 11 NM_001243135 c.T603G p.N201K nonsynonymous SNV - - - ○

627 PELO 5 NM_015946 c.C155G p.S52C nonsynonymous SNV - - ○ - - -

628 PEPD 19 NM_001166056 c.G152A p.G51E nonsynonymous SNV ○ - - - - -

629 PER1 17 NM_002616 c.G1114A p.D372N nonsynonymous SNV - - - ○ - -

630 PGM2L1 11 NM_173582 c.G1559T p.C520F nonsynonymous SNV - - ○ - - -

631 PHLDA2 11 NM_003311 c.358_359insC p.A120fs frameshift insertion - - - - ○ -

632 PHRF1 11 NM_020901 c.C3698T p.T1233M nonsynonymous SNV - - - - ○ -

633 PIEZO1 16 NM_001142864 c.C4381T p.R1461W nonsynonymous SNV - ○ - - - -

634 PIGQ 16 NM_148920 c.G1274A p.R425Q nonsynonymous SNV - ○ - - - -

635 PKD1 16 NM_000296 c.A12310C p.I4104L nonsynonymous SNV - - - ○

636 PKHD1 6 NM_138694 c.C10867A p.P3623T nonsynonymous SNV ○ - - - - -

637 PKNOX1 21 NM_004571 c.G1126A p.V376M nonsynonymous SNV ○ - - - - -

638 PKP3 11 NM_007183 c.G830C p.R277P nonsynonymous SNV - ○ - - - -

639 PLA2G4B 15 NM_001114633 c.T334G p.F112V nonsynonymous SNV - - - ○ - -

640 PLCL1 2 NM_006226 c.G946T p.V316L nonsynonymous SNV - - ○ - - -

641 PLIN1 15 NM_002666 c.182delG p.G61fs frameshift deletion - - ○ - - -

642 PLXNA4 7 NM_020911 c.C2066A p.S689Y nonsynonymous SNV - - ○ - - -

643 PLXND1 3 NM_015103 c.G2735A p.R912Q nonsynonymous SNV - - ○ - - -

644 PMVK 1 NM_006556 c.G100A p.G34R nonsynonymous SNV - - - ○

645 PNISR 6 NM_032870 c.C1674G p.H558Q nonsynonymous SNV - - - ○

646 PNMA2 8 NM_007257 c.605delA p.K202fs frameshift deletion - - - ○

647 POC5 5 NM_001099271 c.T377C p.L126S nonsynonymous SNV - - - - ○ -

648 PODXL 7 NM_001018111 c.C1622T p.P541L nonsynonymous SNV - - ○ - - -

649 POLE 12 NM_006231 c.C1717T p.R573W nonsynonymous SNV ○ - - - - -

650 POLQ 3 NM_199420 c.G863T p.R288L nonsynonymous SNV ○ - - - - -

651 POLR1A 2 NM_015425 c.C793G p.L265V nonsynonymous SNV - ○ - - - -

652 POLR1C 6 NM_203290 c.G149A p.R50H nonsynonymous SNV - - ○ - - -

653 POM121 7 NM_172020 c.G2356A p.A786T nonsynonymous SNV ○ - - - - -

654 POT1 7 NM_001042594 c.A82G p.M28V nonsynonymous SNV - ○ - - - -

655 POTEF 2 NM_001099771 c.G241A p.G81S nonsynonymous SNV - - ○ - - -

656 PPFIBP1 12 NM_001198915 c.A1291C p.K431Q nonsynonymous SNV ○ - - - - -

657 PPFIBP2 11 NM_003621 c.T2095A p.C699S nonsynonymous SNV - - - ○

658 PPL 16 NM_002705 c.G4078C p.E1360Q nonsynonymous SNV - - ○ - - -

659 PPM1A 14 NM_021003 c.G7A p.A3T nonsynonymous SNV - - ○ - - -

660 PPM1F 22 NM_014634 c.G818A p.G273E nonsynonymous SNV - ○ - - - -

(12)

661 PPP1R12A 12 NM_001244992 c.T2273C p.I758T nonsynonymous SNV - - ○ - - -

662 PPP1R12B 1 NM_001197131 c.C17A p.T6N nonsynonymous SNV ○ - - - - -

663 PPP1R21 2 NM_152994 c.A372G p.I124M nonsynonymous SNV - - - ○ - -

664 PPP1R3D 20 NM_006242 c.C670T p.R224C nonsynonymous SNV - - ○ - - -

665 PPP2R3A 3 NM_181897 c.G490T p.A164S nonsynonymous SNV - - - ○ - -

666 PRAM1 19 NM_032152 c.C757G p.P253A nonsynonymous SNV - - ○ - - -

667 PRAMEF11 1 NM_001146344 c.630delA p.P210fs frameshift deletion - - - ○

668 PRAMEF12 1 NM_001080830 c.1415_1416insCC p.C472fs frameshift insertion - - - ○

669 PRICKLE3 X NM_006150 c.1567_1568insCATCAC p.N523delinsHHN nonframeshift insertion - - ○ - - -

670 PRKDC 8 NM_001081640 c.A4239G p.I1413M nonsynonymous SNV - - ○ - - -

671 PRR4 12 NM_007244 c.G278A p.R93Q nonsynonymous SNV ○ - - - - -

672 PRRT2 16 NM_145239 c.T522G p.S174R nonsynonymous SNV - - - ○ - -

673 PSD3 8 NM_015310 c.T797C p.V266A nonsynonymous SNV - - ○ - - -

674 PSG5 19 NM_002781 c.C58T p.L20F nonsynonymous SNV - - - - ○ -

675 PSMA8 18 NM_001025096 c.G586A p.A196T nonsynonymous SNV - - - ○

676 PTPN13 4 NM_080683 c.G2128C p.E710Q nonsynonymous SNV - - ○ - - -

677 PTPN23 3 NM_015466 c.C3769G p.P1257A nonsynonymous SNV - - - - ○ -

678 PTPN5 11 NM_032781 c.A1180C p.I394L nonsynonymous SNV - - - ○ - -

679 PTPRZ1 7 NM_001206838 c.C2195T p.S732F nonsynonymous SNV - - - ○ - -

680 PTS 11 NM_000317 c.363_364del p.121_122del frameshift deletion ○ - - - - -

681 PVRL2 19 NM_002856 c.G943A p.V315I nonsynonymous SNV - - - ○

682 PVRL3 3 NM_015480 c.T1576A p.Y526N nonsynonymous SNV - - - ○

683 PXDN 2 NM_012293 c.C2591G p.P864R nonsynonymous SNV - ○ - - - -

684 QPCT 2 NM_012413 c.G511C p.A171P nonsynonymous SNV - ○ - - - -

685 RAB40B 17 NM_006822 c.C424T p.Q142X stopgain SNV - - - ○ - -

686 RABEPK 9 NM_001174152 c.399delC p.S133fs frameshift deletion - ○ - - - -

687 RAD50 5 NM_005732 c.T1924G p.L642V nonsynonymous SNV - - - ○

688 RAD51AP1 12 NM_006479 c.408delT p.D136fs frameshift deletion - - ○ - - -

689 RASSF2 20 NM_170774 c.G880T p.E294X stopgain SNV - - - - ○ -

690 RASSF6 4 NM_201431 c.464_465insA p.R155fs frameshift insertion - - - ○ - -

691 RBBP6 16 NM_006910 c.C3197T p.T1066I nonsynonymous SNV - - - ○ - -

692 RBM11 21 NM_144770 c.G16C p.E6Q nonsynonymous SNV - - - ○

693 RBM12 20 NM_001198838 c.2505_2506insCGGCCC p.P835delinsPGP nonframeshift insertion - ○ - - - -

694 RBMXL1 1 NM_019610 c.G232A p.A78T nonsynonymous SNV - - - - ○ -

695 RC3H2 9 NM_018835 c.C1031T p.P344L nonsynonymous SNV - ○ - - - -

696 RECQL4 8 NM_004260 c.2576_2577insTGCACC p.Q859delinsLHQ nonframeshift insertion - - ○ - - -

697 RELN 7 NM_005045 c.1_2insGGCGGC p.M1delinsGGM nonframeshift insertion - ○ - - - -

698 REXO1 19 NM_020695 c.2884_2886del p.962_962del nonframeshift deletion - - - ○

699 RFPL2 22 NM_001098527 c.C1117T p.R373C nonsynonymous SNV - - ○ - - -

700 RFX4 12 NM_213594 c.T1495A p.L499M nonsynonymous SNV - - - ○ - -

701 RFX5 1 NM_001025603 c.A1658C p.E553A nonsynonymous SNV - - - ○ - -

702 RGP1 9 NM_001080496 c.G383A p.R128Q nonsynonymous SNV ○ - - - - -

703 RGS4 1 NM_001113380 c.G507C p.K169N nonsynonymous SNV - ○ - - - -

704 RNF17 13 NM_001184993 c.A1897G p.S633G nonsynonymous SNV - - - ○

705 RNF38 9 NM_022781 c.12_12del p.4_4del frameshift deletion - ○ - - - -

706 RNMTL1 17 NM_018146 c.A533G p.D178G nonsynonymous SNV ○ - - - - -

707 ROBO1 3 NM_002941 c.C4438A p.L1480I nonsynonymous SNV - - ○ - - -

708 ROCK2 2 NM_004850 c.C2692T p.Q898X stopgain SNV - - - ○ - -

709 RP1 8 NM_006269 c.G2894T p.S965I nonsynonymous SNV - - - ○ - -

710 RP1L1 8 NM_178857 c.3935_3937del p.1312_1313del nonframeshift deletion - - - ○ - -

711 RPAP3 12 NM_001146075 c.A1360G p.T454A nonsynonymous SNV - - - ○ - -

712 RPL29 3 NM_000992 c.392_393insCCAAGG p.D131delinsAKD nonframeshift insertion - - - - ○ -

713 RPL8 8 NM_033301 c.C323T p.P108L nonsynonymous SNV - - ○ - - -

714 RRP12 10 NM_015179 c.C2120G p.P707R nonsynonymous SNV - - - - ○ -

715 RRP36 6 NM_033112 c.22_27del p.8_9del nonframeshift deletion - - - ○ - -

716 RSPH1 21 NM_080860 c.C398T p.T133M nonsynonymous SNV - - ○ - - -

717 RSPO1 1 NM_001242909 c.A590G p.N197S nonsynonymous SNV - - - ○ - -

718 RTN4RL1 17 NM_178568 c.C788T p.A263V nonsynonymous SNV - ○ - - - -

719 RUFY4 2 NM_198483 c.T1519G p.W507G nonsynonymous SNV ○ - - - - -

720 RUNX2 6 NM_001015051 c.G1091A p.R364H nonsynonymous SNV - - - ○ - -

721 RUSC1 1 NM_001105204 c.T895C p.W299R nonsynonymous SNV - - - ○ - -

RUSC1 1 NM_001105204 c.1138_1139insC p.A380fs frameshift insertion - - - ○ - -

722 SAE1 19 NM_005500 c.C611A p.T204K nonsynonymous SNV ○ - - - - -

723 SAMD1 19 NM_138352 c.C836T p.P279L nonsynonymous SNV - - ○ - - -

724 SAMD11 1 NM_152486 c.682_683insT p.P228fs frameshift insertion ○ - - - - -

725 SAMD9 7 NM_017654 c.1552_1553insA p.A518fs frameshift insertion - - ○ - - -

726 SAMD9L 7 NM_152703 c.G3890A p.S1297N nonsynonymous SNV - - - ○ - -

727 SAP130 2 NM_024545 c.C386T p.T129M nonsynonymous SNV - - ○ - - -

728 SASH1 6 NM_015278 c.39_40insGAGCCC p.P13delinsPEP nonframeshift insertion - - - ○

729 SBF1 22 NM_002972 c.C847T p.P283S nonsynonymous SNV ○ - - - - -

730 SCAMP3 1 NM_052837 c.G91A p.A31T nonsynonymous SNV - - ○ - - -

731 SCARF1 17 NM_145352 c.36_37insGCT p.L12delinsLL nonframeshift insertion - - - - ○ -

732 SCFD1 14 NM_182835 c.T821A p.V274D nonsynonymous SNV - - - ○

733 SCMH1 1 NM_001172222 c.G1201A p.D401N nonsynonymous SNV - - - ○ - -

734 SCPEP1 17 NM_021626 c.763delA p.K255fs frameshift deletion - - - ○ - -

735 SDHAF2 11 NM_017841 c.A37T p.M13L nonsynonymous SNV ○ - - - - -

736 SDPR 2 NM_004657 c.C1238T p.P413L nonsynonymous SNV - - - ○ - -

737 SEC14L3 22 NM_174975 c.G59A p.R20Q nonsynonymous SNV ○ - - - - -

738 SEL1L2 20 NM_025229 c.A1688C p.Y563S nonsynonymous SNV - ○ - - - -

739 SELO 22 NM_031454 c.G1717A p.A573T nonsynonymous SNV - - ○ - - -

740 SEMA4C 2 NM_017789 c.A2453G p.Q818R nonsynonymous SNV - - - - ○ -

741 SENP1 12 NM_014554 c.C652T p.H218Y nonsynonymous SNV - - - ○

742 SERPINA9 14 NM_175739 c.554delA p.N185fs frameshift deletion - - - ○

743 SETBP1 18 NM_015559 c.C584T p.T195M nonsynonymous SNV - - - - ○ -

744 SETDB1 1 NM_001145415 c.395_399del p.132_133del frameshift deletion - - - ○

745 SEZ6 17 NM_178860 c.A410G p.E137G nonsynonymous SNV - - ○ - - -

746 SGIP1 1 NM_032291 c.G1334A p.R445Q nonsynonymous SNV - - - ○

747 SGK494 17 NM_001174103 c.G376C p.D126H nonsynonymous SNV - - - ○

748 SGTA 19 NM_003021 c.A47G p.H16R nonsynonymous SNV - - ○ - - -

749 SH3GL3 15 NM_003027 c.G872A p.R291H nonsynonymous SNV - - - - ○ -

750 SHF 15 NM_138356 c.A256G p.T86A nonsynonymous SNV - ○ - - - -

751 SHISA6 17 NM_207386 c.G1063A p.V355I nonsynonymous SNV - - - ○

(13)

752 SHROOM4 X NM_020717 c.3384_3385insACAGCAGCAGCA p.Q1128delinsQQQQQ nonframeshift insertion - - ○ - - -

753 SIGLEC12 19 NM_033329 c.G401C p.R134T nonsynonymous SNV - - - ○ - -

754 SLC13A3 20 NM_001193339 c.A572G p.H191R nonsynonymous SNV ○ - - - - -

755 SLC16A13 17 NM_201566 c.322_323insT p.L108fs frameshift insertion - - - ○ - -

756 SLC25A28 10 NM_031212 c.G178A p.G60S nonsynonymous SNV - - - - ○ -

757 SLC25A33 1 NM_032315 c.A560G p.Y187C nonsynonymous SNV - ○ - - - -

758 SLC26A3 7 NM_000111 c.C1744G p.Q582E nonsynonymous SNV - - - - ○ -

759 SLC34A1 5 NM_003052 c.271_291del p.91_97del nonframeshift deletion - - - - ○ -

760 SLC36A3 5 NM_001145017 c.T1465C p.Y489H nonsynonymous SNV - ○ - - - -

761 SLC39A9 14 NM_018375 c.G611A p.R204Q nonsynonymous SNV - - - - ○ -

762 SLC43A3 11 NM_017611 c.1265_1266insCCACT p.F422fs frameshift insertion - - ○ - - -

763 SLC4A1 17 NM_000342 c.G1354A p.A452T nonsynonymous SNV - - - ○ - -

764 SLC4A11 20 NM_001174089 c.A1061G p.K354R nonsynonymous SNV - - ○ - - -

765 SLC7A6OS 16 NM_032178 c.A835G p.R279G nonsynonymous SNV ○ - - - - -

766 SLC8A2 19 NM_015063 c.C1294T p.R432C nonsynonymous SNV - - - - ○ -

767 SLC9A4 2 NM_001011552 c.G1940A p.W647X stopgain SNV - ○ - - - -

768 SLCO1B7 12 NM_001009562 c.C1181T p.T394I nonsynonymous SNV - - ○ - - -

769 SLCO4A1 20 NM_016354 c.G227A p.R76Q nonsynonymous SNV - - - - ○ -

770 SMARCA4 19 NM_003072 c.G3575A p.R1192H nonsynonymous SNV - - - ○

771 SMARCD2 17 NM_001098426 c.G1106A p.R369H nonsynonymous SNV - - ○ - - -

772 SMG7 1 NM_201569 c.G889C p.V297L nonsynonymous SNV - - - ○

773 SMPD1 11 NM_000543 c.103_114del p.35_38del nonframeshift deletion - ○ - - - -

774 SMPDL3A 6 NM_006714 c.A1202G p.K401R nonsynonymous SNV - - - - ○ -

775 SMTNL1 11 NM_001105565 c.G679C p.G227R nonsynonymous SNV - - - ○

776 SMYD5 2 NM_006062 c.G468C p.R156S nonsynonymous SNV - - - ○ - -

777 SNIP1 1 NM_024700 c.C862T p.R288C nonsynonymous SNV ○ - - - - -

778 SNX13 7 NM_015132 c.T2517A p.D839E nonsynonymous SNV - - ○ - - -

779 SNX29 16 NM_032167 c.C1897T p.P633S nonsynonymous SNV ○ - - - - -

780 SORCS3 10 NM_014978 c.C3235A p.Q1079K nonsynonymous SNV - ○ - - - -

781 SP100 2 NM_001080391 c.A1516G p.T506A nonsynonymous SNV - - - ○ - -

782 SPAG17 1 NM_206996 c.3307delA p.S1103fs frameshift deletion - ○ - - - -

783 SPATA5L1 15 NM_024063 c.A1438G p.I480V nonsynonymous SNV - - - ○ - -

784 SPDYE4 17 NM_001128076 c.G20A p.R7H nonsynonymous SNV - - - ○ - -

785 SPOCK1 5 NM_004598 c.G1253A p.R418Q nonsynonymous SNV - - - ○

786 SPRYD5 11 NM_032681 c.G952A p.D318N nonsynonymous SNV - - - ○

787 SPTAN1 9 NM_001195532 c.G3703A p.A1235T nonsynonymous SNV - - - - ○ -

788 SPTB 14 NM_000347 c.A3761G p.D1254G nonsynonymous SNV - - - ○ - -

789 SPTBN2 11 NM_006946 c.G6136A p.D2046N nonsynonymous SNV ○ - - - - -

790 SRGAP1 12 NM_020762 c.A1748G p.Y583C nonsynonymous SNV - - - ○ - -

791 SRSF7 2 NM_001031684 c.A496C p.I166L nonsynonymous SNV - - ○ - - -

792 SSC5D 19 NM_001144950 c.C3308T p.S1103F nonsynonymous SNV - - - - ○ -

793 SSTR4 20 NM_001052 c.G790A p.V264I nonsynonymous SNV ○ - - - - -

794 STARD6 18 NM_139171 c.G258C p.R86S nonsynonymous SNV - - - ○ - -

795 STARD8 X NM_014725 c.T1840C p.S614P nonsynonymous SNV - - - ○

796 SULT6B1 2 NM_001032377 c.T704C p.I235T nonsynonymous SNV - - - ○ - -

797 SUPT5H 19 NM_001111020 c.113_115del p.38_39del nonframeshift deletion - - ○ - - -

798 SURF4 9 NM_033161 c.A673G p.I225V nonsynonymous SNV - ○ - - - -

799 SV2C 5 NM_014979 c.C715A p.Q239K nonsynonymous SNV - - - ○

800 SVEP1 9 NM_153366 c.A2415C p.K805N nonsynonym