(September 2019, Versie 12) in De Genpanels

Onderstaande coverage is berekend over 150 exomen, welke geprept zijn met de Agilent SureSelect XT exome v6 kit. Het sequencen is uitgevoerd op een Illumina NextSeq500 of NovaSeq6000 met een gemiddelde coverage van 100X , dekking 20x >95%

In de genpanels wordt de officiële HGNC goedgekeurde gennamen gehanteerd. Indien een bepaald gen niet is opgenomen in een genpanel, waarvan u het wel verwacht, dan kunt u in OMIM nagaan of u de HGNC naam gebruikt. Aandoening

5GPM pre- en postnataal (Prenatale) 5GPM

Amyloidose Amyloidose

Aangeboren hartafwijkingen Congenitale hartafwijkingen Heterotaxie Linkszijdige hartafwijkingen (AVS/AVI, BAV, COA, HLHS, MVS/MVI)

Angio-Oedeem Angio-oedeem

Cardiomyopathie bij kinderen Cardiomyopathie bij kinderen

Epilepsie Benigne familiaire neonatale/infantiele convulsies (Early Infantile) Epileptische Encephalopathie (EIEE/EE) Focale epilepsie Koortsgerelateerde convulsies Progressieve myoclone epilepsie Stofwisselingsziekte met epilepsie Idiopathische gegeneraliseerde epilepsie / juveniele myoclone epilepsie /childhood absence epilepsie (IGE/JME/CAE) Epilepsie in combinatie met paroxysmale aandoeningen Syndromen met epilepsie en verstandelijke beperking Combinatie van Genpanels (Early Infantile) Epileptische Encephalopathie (EIEE/EE) & Syndromen met epilepsie en verstandelijke beperking Volledig Epilepsie Genpanel

Erfelijke Kanker Borstkanker Borstkanker & Li Fraumeni syndroom Darmkanker Darmpoliepen Eierstokkanker Endocrinologie-(bij)schildklierkanker Endocrinologie-feochromocytomen Endocrinologie-NET Huidkanker Kinderonco-medulloblastoom Kinderonco-meningeoma/schwannoma Kinderonco-neuroblastoom

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (September 2019, Versie 12) Onderstaande coverage is berekend over 150 exomen, welke geprept zijn met de Agilent SureSelect XT exome v6 kit. Het sequencen is uitgevoerd op een Illumina NextSeq500 of NovaSeq6000 met een gemiddelde coverage van 100X , dekking 20x >95%

Kinderonco-nierkanker aanvullend Leukemie / lymfoom Li Fraumeni syndroom Maagkanker Nierkanker Niet-endocriene alvleesklierkanker Prostaatkanker Retinoblastoom Longkanker

Fertiliteit Prematuur Ovarieel Falen (POF)

Hart- en vaatziekten Aritmie LQT Cardiomyopathie Cardiomyopathie en Noonan Syndroom Dyslipidemie - Hypercholesterolemie Dyslipidemie - Hypobetalipoproteinemie Dyslipidemie - Hypoalfalipoproteinemie Dyslipidemie - Hyperalfalipoproteinemie Dyslipidemie - Hypertriglyceridemie Dyslipidemie - Dysbetalipoproteinemie Dyslipidemie - Chylomicron retention disease Dyslipidemie - Cerebrotendineuze xanthomatose fenotype Dyslipidemie - Statine resistentie fenotype Dyslipidemie (totaal) Pulmonale Arteriële Hypertensie

Huidziekten Epidermolysis Bullosa Huidfragiliteit overig Ectodermale Dysplasie / geïsoleerde ectodermale afwijkingen Ectodermaledysplasie syndromaal Ichthyosis volledig Palmoplantaire Keratoderma Ichtyosis syndromaal Ichthyosis geïsoleerd

Hyper-/ hypofosfatemie Hyper- en Hypofosfatemie

Late onset genlijst Late onset genlijst

Leukemie - Lymfoom Leukemie - Lymfoom

Metabole & Leverziekten

Cholestase Acuut Leverfalen Pancreatitis Stofwisselingsziekten Very early onset inflammatory bowel disease/early onset enteropathie

Mitochondriele aandoeningen Mitochondriele aandoeningen

Moleculair genetische diagnostiek via individuele analyses Moleculair genetische diagnostiek via individuele analyses

Neurogenetica Ataxie Early onset (kinderen) Ataxie Volwassenen Spastische paraplegie Combinatie van Genpanels Ataxie Volwassenen & Spastische paraplegie Pontocerebellaire hypoplasie (PCH) Dandy Walker malformatie Joubert like afwijkingen Dementie Parkinson/parkinsonisme Neurodegeneratie met ijzerafzetting in de hersenen (NBIA) Dystonie Myoclonus Kinderen tot en met 17 jaar Myoclonus Volwassenen

Noonan syndroom Noonan syndroom

Ontwikkelingsachterstand (OA) Ontwikkelingsachterstand (OA)

Preconceptiescreening Preconceptie

Primaire Cilliare Dyskinesie Primaire Cilliare Dyskinesie (PCD)

Primaire Immuundeficiëntie ALPS (Autoimmuun Lymfoproliferatief Syndroom/Autoimmuniteit Autoinflammatoir B cel pathologie CMC (Chronische mucocutane candidiasis) HIES (hyper-IgE-syndroom) HLH (hemofagocytaire lymfohistiocytose) / Immuundisregulatie PID (primaire immuundeficientie inclusief bovenstaande subpanels) (S)CID ((Severe) combined immunodeficiency)

Synoniemen lijst Synoniemen lijst

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (September 2019, Versie 12) Moleculair genetische diagnostiek via individuele analyses Azoö-/oligozoöspermie, Y chromosomale microdeleties AZF-A, -B, -C Collagenopathieen type II COL2A1 Congenitaal Centraal Hypoventilatie Syndroom (CCHS) ASCL1 PHOX2B Congenitale Bilaterale Agenesie Vas Deferens (CBAVD) CFTR Cystische Fibrose CFTR Ectodermale Dysplasie (X-Linked) EDA Fragiele-X Syndroom of tremor/ataxie sydroom, repeatexpansie analyse FMR1 FX Prematuur Ovarieel Falen (POF), repeatexpansie analyse FMR1 Glycogeen Stapelingsziekte, Type Ia G6PC Glycogeen Stapelingsziekte, Type Ib G6PT1 Glycogeen Stapelingsziekte, Type III AGL Hirschsprung (ziekte van) /MOWS (MOWAT-WILSON syndroom) ECE1 EDN3 EDNRB GDNF PHOX2B RET ZEB2 Hutchinson-Gilford progeria, lipodystrofie LMNA Hydrocefalie, X-gebonden / MASA- / L1 syndroom L1CAM Incontinentia Pigmenti, type 2 IKBKG Langer Mesomele Dysplasie SHOX Leri Weill dyschondrosteosis SHOX Lynch syndroom (HNPCC), deleties 3’ uiteinde EPCAM gen EPCAM Progressieve Myoclonische Epilepsie-6 (EPM-6) onderzoek naar bekende foundermutatie GOSR2 c.430G>T, p.(Gly144Trp)

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) Shah-Waardenburg syndroom EDN3 EDNRB SOX10 Short Stature, idiopathische SHOX Short Stature, achondrogenesis II/hypochondrogenesis, SEDC, Kniest, etc COL2A1 Smith-Magenis syndroom RAI1 Spinale Musculaire Atrofie SMN1 Spinale Musculaire Atrofie met diagfragma verlamming IGHMBP2 Spino cerebellaire ataxie (SCA), repeatexpansie analyse ATXN1 ATXN2 ATXN3 ATXN7 CACNA1A NOP56 Stickler syndroom type 1 COL2A1

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Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) Onderstaande genen worden niet meegenomen bij (prenatale) 5GPM analyse. Gen

ACD ACTRT1 AIP ALK APC APOE APP AXIN2 BAP1 BMPR1A BRCA1 BRIP1 CDH1 CDK4 CDKN1B CDKN2A CEBPA CHEK2 CTHRC1 CTNNA1 DICER1 EGFR FAN1 FH FLCN GATA2 HABP2 KIT MAP3K6 MAPT MAX MET MITF MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH NF2 NOTCH3 NTHL1 PALB2 PAX5 PDGFRA

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) PMS2 POLD1 POLE1 POT1 PRKAR1A PSEN1 PSEN2 RAD51C RAD51D RNF43 RUNX1 SDHA SDHAF2 SDHC SDHD STK11 TERT TMEM127 TP53

Terug naar inhoudsopgave

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) Synoniemenlijst behorend bij LAB-F0701 Genenlijst panels Genoomdiagnostiek UMCG_aanpassing

HGNC Approved Gene Symbol Gennaam op LAB-F0701 (volgens https://omim.org) ADA2 CECR1 ATP5F1E ATP5E C19ORF40 C19orf40 CARMIL2 RLTPR CAVIN1 PTRF CAVIN4 MURC CFAP298 C21orf59 CFAP298 C21orf59 COQ8A ADCK3 CPLANE1 C5orf42 DNAAF4 DYX1C1 DNAAF5 HEATR2 FAAP24 C19orf40 GATB PET112 HJV HFE2 MRE11 MRE11A NSMCE3 NDNL2 PLPBP PROSC PRUNE1 PRUNE RUBCN KIAA0226 RXYLT1 TMEM5 SELENON SEPN1 SVBP CCDC23 TUBB4a TUBB4A TWNK C10orf2 WASHC5 KIAA0196 Onderstaande coverage is berekend over 150 exomen, welke geprept zijn met de Agilent SureSelect XT exome v6 kit. Het sequencen is uitgevoerd op een Illumina NextSeq500 of NovaSeq6000 met een gemiddelde coverage van 100X , dekking 20x >95%

5GPM

Gemiddelde Percentage Gen coverage ≥20x coverage A2M 128.64 97.77 A2ML1 123.34 99.92 A4GALT 2.80 0 AAAS 160.17 100 AAGAB 110.73 99.97 AARS 151.34 99.13 AARS2 160.34 100 AASS 107.32 99.39 ABAT 129.64 99.90 ABCA1 126.63 99.91 ABCA12 117.05 99.42 ABCA3 144.48 99.68 ABCA4 143.41 99.11 ABCA5 59.50 92.21 ABCA7 109.71 98.86 ABCB1 110.36 98.84 ABCB11 109.66 97.80 ABCB4 99.13 97.64 ABCB6 178.17 100 ABCB7 94.65 99.15 ABCC11 147.09 100 ABCC2 121.56 99.99 ABCC6 143.10 96.82 ABCC8 159.92 99.53 ABCC9 105.51 98.92 ABCD1 87.03 67.72 ABCD3 81.37 94.00 ABCD4 171.57 99.98 ABCG2 111.29 99.50 ABCG5 120.71 92.65 ABCG8 146.27 98.94 ABHD12 123.39 93.83 ABHD5 107.05 99.36 ABL1 151.49 99.69 ABO 184.10 100 ACAD8 154.87 99.61 ACAD9 168.34 99.97 ACADL 100.51 99.93 ACADM 95.44 96.10 ACADS 143.07 99.33 ACADSB 93.73 97.38 ACADVL 166.10 99.86 ACAN 189.11 99.99 ACAT1 88.88 97.68

ACBD5 101.53 99.22 ACE 114.19 87.96 ACHE 108.29 97.17 ACKR1 107.34 100 ACO2 130.91 92.97 ACOX1 141.21 93.88 ACOX2 151.33 99.94 ACP5 234.90 100 ACPT 86.26 77.64 ACSF3 128.49 99.62 ACSL4 94.77 98.51 ACSL6 130.70 99.93 ACTA1 88.97 99.56 ACTA2 123.78 99.94 ACTB 156.83 100 ACTC1 143.93 99.91 ACTG1 153.50 100 ACTG2 123.69 99.94 ACTN1 166.17 99.90 ACTN2 148.10 99.95 ACTN3 154.57 96.83 ACTN4 147.60 95.79 ACVR1 128.83 99.46 ACVR1B 123.78 91.74 ACVR2B 184.57 91.80 ACVRL1 139.98 93.81 ACY1 146.09 98.32 ADA 129.89 91.60 ADAM10 79.70 97.18 ADAM17 88.23 99.71 ADAM22 112.22 99.46 ADAM9 100.80 99.82 ADAMTS10 132.15 99.36 ADAMTS13 105.68 93.93 ADAMTS17 138.42 96.41 ADAMTS18 140.01 99.97 ADAMTS2 149.90 99.77 ADAMTS3 120.72 99.58 ADAMTS5 143.62 99.95 ADAMTSL2 125.98 97.63 ADAMTSL4 109.72 99.78 ADAR 151.25 93.75 ADAT3 12.20 9.96 ADCK3 117.89 99.92 ADCK4 127.51 93.00 ADCY1 149.53 99.94 ADCY10 114.89 97.99 ADCY5 143.51 99.87 ADCY6 166.99 99.89 ADD1 132.86 99.98

ADD3 113.60 99.80 ADH1B 116.44 95.45 ADH1C 138.10 99.65 ADIPOQ 137.09 100 ADK 85.31 92.80 ADNP 148.97 100 ADRA2B 165.70 95.67 ADRA2C 139.19 98.89 ADRB1 140.20 97.77 ADRB2 169.21 100 ADRB3 110.27 99.94 ADSL 178.77 100 ADSSL1 157.53 92.93 AFF2 101.15 99.10 AFF4 104.37 99.43 AFG3L2 86.74 95.94 AFP 94.43 98.52 AGA 114.23 100 AGBL1 157.57 99.91 AGBL5 159.35 100 AGK 121.52 99.48 AGL 105.60 99.63 AGO2 145.09 99.98 AGPAT2 151.71 98.32 AGPS 85.49 91.74 AGRN 125.97 95.63 AGRP 177.51 99.96 AGT 158.62 100 AGTR1 136.46 100 AGTR2 111.38 98.56 AGXT 140.05 99.89 AHCY 122.08 98.58 AHDC1 176.59 100 AHI1 85.71 97.41 AHNAK 157.59 99.97 AHSP 124.01 100 AICDA 103.21 98.01 AIFM1 110.33 99.77 AIMP1 108.37 97.30 AIMP2 95.90 93.87 AIPL1 119.86 85.98 AIRE 95.16 95.27 AK1 106.89 99.72 AK2 106.97 90.13 AKAP10 101.30 93.56 AKAP9 86.36 98.63 AKR1C2 140.51 99.71 AKR1C4 112.93 98.82 AKR1D1 99.72 99.29 AKT1 141.29 100

AKT2 140.16 84.17 AKT3 68.99 98.47 ALAD 148.14 99.57 ALAS2 129.97 99.83 ALB 98.69 98.98 ALDH18A1 137.04 100 ALDH1A2 114.58 99.83 ALDH1A3 140.06 98.88 ALDH1B1 55.23 97.51 ALDH2 149.80 99.96 ALDH3A2 87.14 83.69 ALDH4A1 155.15 99.93 ALDH5A1 99.73 96.02 ALDH6A1 126.71 99.81 ALDH7A1 89.45 99.12 ALDOA 196.71 99.18 ALDOB 170.14 99.98 ALG1 92.10 81.39 ALG10 144.29 100 ALG11 120.57 100 ALG12 189.55 100 ALG13 104.51 98.45 ALG14 139.78 100 ALG2 113.73 99.87 ALG3 155.75 100 ALG6 78.92 91.46 ALG8 82.72 82.31 ALG9 111.47 98.58 ALMS1 105.05 95.64 ALOX12B 147.56 98.68 ALOX5 142.11 99.92 ALOX5AP 143.69 100 ALOXE3 161.31 99.96 ALPI 191.62 100 ALPK3 178.94 99.86 ALPL 148.49 99.81 ALS2 105.81 99.92 ALS2CL 137.41 99.95 ALX1 123.08 99.58 ALX3 193.29 100 ALX4 140.64 99.97 AMACR 130.26 100 AMBN 91.36 91.40 AMELX 76.69 96.35 AMER1 111.34 100 AMH 51.38 91.80 AMHR2 143.27 99.94 AMMECR1 89.54 97.90 AMN 83.01 83.07 AMPD1 135.42 99.98

AMPD2 139.00 99.99 AMPD3 149.34 99.82 AMT 184.41 100 ANG 176.72 100 ANGPT1 97.47 98.81 ANGPTL3 102.90 98.22 ANGPTL4 143.68 100 ANK1 163.33 99.98 ANK2 121.07 99.27 ANK3 119.40 99.79 ANKH 161.81 99.99 ANKK1 158.52 100 ANKLE2 133.22 99.13 ANKRD1 117.73 99.55 ANKRD11 149.38 99.94 ANKRD26 67.70 86.27 ANKS3 122.48 95.18 ANKS6 134.66 99.53 ANKZF1 133.64 100 ANLN 89.61 98.11 ANO10 92.75 97.14 ANO3 101.43 99.32 ANO5 91.92 98.17 ANO6 104.24 99.71 ANTXR1 112.20 99.86 ANTXR2 88.35 96.00 ANXA5 97.31 99.53 AP1S1 157.49 89.12 AP1S2 59.98 78.55 AP1S3 97.08 87.50 AP2S1 140.12 99.92 AP3B1 72.82 92.38 AP3B2 159.09 95.97 AP3D1 159.43 96.92 AP4B1 138.61 100 AP4E1 87.54 94.17 AP4M1 143.71 94.31 AP4S1 77.42 95.30 AP5Z1 90.28 99.07 APC2 83.95 87.10 APCDD1 84.70 71.78 APOA1 175.81 100 APOA1BP 122.53 99.91 APOA2 102.50 80 APOA5 100.64 69.51 APOB 159.06 99.93 APOC2 165.75 100 APOC3 120.58 99.96 APOL1 135.75 100 APOPT1 107.56 93.66

APPL1 68.53 93.09 APRT 141.43 99.98 APTX 107.97 88.80 AQP1 165.32 99.96 AQP2 96.43 96.70 AQP3 122.92 83.70 AQP5 96.34 99.34 AQP7 84.72 90.73 ARCN1 131.25 99.72 ARFGEF2 132.03 99.58 ARG1 124.77 100 ARHGAP26 130.72 99.98 ARHGAP31 134.08 100 ARHGDIA 157.76 99.56 ARHGEF10 127.74 99.79 ARHGEF2 152.64 96.37 ARHGEF6 93.71 94.10 ARHGEF9 95.72 99.03 ARID1A 137.95 99.56 ARID1B 130.49 98.83 ARID2 86.77 98.96 ARL13B 79.36 99.38 ARL2BP 99.14 96.48 ARL3 122.49 99.80 ARL6 76.00 98.28 ARL6IP1 60.18 87.60 ARMC4 92.85 91.12 ARMC5 205.05 100 ARMC9 128.39 99.89 ARMS2 125.79 100 ARNT2 166.47 97.10 ARSA 131.91 88.69 ARSB 159.15 100 ARSE 123.60 98.90 ART4 101.21 99.52 ARV1 86.25 83.90 ARX 51.29 73.26 ASAH1 88.21 97.72 ASB10 121.82 98.95 ASCC1 95.89 90.68 ASCL1 90.91 100 ASH1L 118.86 96.51 ASIP 116.01 99.91 ASL 128.27 98.46 ASNA1 155.70 99.98 ASNS 78.44 92.63 ASPA 87.16 96.79 ASPH 84.15 95.46 ASPM 75.81 95.82 ASPN 126.40 99.87

ASPSCR1 87.07 85.12 ASS1 168.74 94.21 ASXL1 115.12 93.80 ASXL2 110.99 98.58 ASXL3 73.39 70.05 ATAD3A 136.91 95.76 ATAD3B 152.02 95.11 ATCAY 144.44 99.78 ATF6 93.72 99.71 ATG16L1 126.33 99.88 ATIC 106.91 90.33 ATL1 115.05 99.62 ATL3 106.27 99.42 ATM 92.16 97.58 ATN1 129.44 100 ATOH7 137.72 100 ATP13A2 128.54 99.76 ATP1A2 153.02 97.73 ATP1A3 168.84 99.90 ATP2A1 125.80 99.66 ATP2A2 134.28 99.76 ATP2B2 165.73 99.95 ATP2B3 141.73 99.58 ATP2C1 113.54 99.68 ATP5A1 59.71 85.94 ATP5B 137.75 99.97 ATP5C1 104.84 95.18 ATP5D 75.57 73.10 ATP5E 178.80 100 ATP5F1 98.59 99.03 ATP5G1 101.11 98.95 ATP5G2 85.32 94.91 ATP5G3 82.13 99.08 ATP5H 82.49 97.36 ATP5I 82.98 99.77 ATP5J 77.08 98.95 ATP5J2 149.68 99.26 ATP5L 88.63 98.49 ATP5L2 177.32 100 ATP5O 104.95 99.89 ATP5S 111.79 99.39 ATP5SL 136.96 89.11 ATP6AP1 130.60 99.29 ATP6AP2 67.06 94.89 ATP6V0A2 121.85 99.94 ATP6V0A4 124.82 99.84 ATP6V1A 92.77 99.78 ATP6V1B1 172.20 93.01 ATP6V1B2 130.29 99.66 ATP7A 102.61 99.38

ATP7B 166.38 100 ATP8A2 113.87 99.81 ATP8B1 103.86 96.43 ATPAF1 102.24 99.91 ATPAF2 135.48 99.97 ATPIF1 135.68 100 ATR 98.33 98.87 ATRX 64.14 93.31 ATXN1 168.49 100 ATXN10 118.69 98.34 ATXN2 105.33 92.80 ATXN3 91.75 98.84 ATXN7 132.78 92.77 ATXN8OS AUH 109.39 99.57 AURKA 87.75 97.76 AURKC 140.38 99.95 AUTS2 119.20 99.64 AUTS2 119.20 99.64 AVP 45.91 80.95 AVPR2 89.60 99.56 AXIN1 106.34 99.95 AXL 150.45 99.73 B2M 150.49 100 B3GALNT1 99.27 86.21 B3GALNT2 93.61 98.24 B3GALT6 205.72 100 B3GALTL 86.78 93.30 B3GAT3 119.37 99.26 B3GNT1 84.52 99.87 B4GALNT1 189.48 99.71 B4GALT1 126.65 99.91 B4GALT7 132.45 92.27 B9D1 149.21 90.35 B9D2 75.48 73.33 BAAT 119.59 99.96 BAG3 145.55 98.06 BANF1 109.14 99.94 BARD1 101.69 99.26 BAX 118.02 72.42 BBIP1 67.10 99.24 BBS1 134.33 96.73 BBS10 79.06 97.11 BBS12 141.97 100 BBS2 101.94 98.37 BBS4 115.78 99.97 BBS5 87.25 95.89 BBS7 92.16 99.45 BBS9 92.17 95.38 BBS9 92.17 95.38

BCAM 115.24 91.19 BCAP31 101.48 92.02 BCHE 94.77 98.63 BCKDHA 123.25 92.34 BCKDHB 102.67 98.71 BCKDK 157.09 100 BCL10 100.92 100 BCL11A 129.55 100 BCL11B 98.52 97.90 BCL2 157.19 100 BCL7A 132.14 99.91 BCL9 106.27 99.57 BCMO1 149.86 99.98 BCOR 111.34 98.85 BCORL1 113.31 92.97 BCR 128.69 94.26 BCS1L 171.57 100 BDNF 134.96 99.85 BEAN1 80.75 67.21 BEST1 130.62 99.95 BFSP1 115.73 99.39 BFSP2 133.00 99.98 BGN 156.12 99.98 BHLHA9 63.10 98.82 BHLHE41 82.13 95.26 BICC1 116.80 99.76 BICD2 141.60 99.89 BIN1 128.39 99.52 BLK 170.60 99.98 BLM 92.26 98.90 BLM 92.26 98.90 BLNK 106.22 97.78 BLOC1S3 74.20 100 BLOC1S6 86.40 88.27 BLVRA 158.18 100 BMP1 163.60 99.44 BMP15 128.31 100 BMP2 169.75 100 BMP4 164.89 100 BMPER 128.82 99.52 BMPR1B 121.18 99.85 BMPR2 115.55 99.87 BMS1 108.14 95.07 BNC2 131.13 99.91 BOLA1 275.30 100 BOLA2 156.34 99.07 BOLA3 96.27 95.12 BPGM 122.17 99.92 BRAF 77.48 97.00 BRAT1 109.47 99.69

BRCA2 88.18 93.62 BRCC3 73.54 88.31 BRD4 103.77 92.07 BRF1 125.46 93.70 BRPF1 181.75 100 BRWD3 79.20 95.56 BSCL2 167.70 100 BSG 137.04 99.83 BSND 148.85 100 BTD 204.15 99.91 BTK 123.23 99.92 BTLA 117.34 99.97 BTNL2 153.99 99.81 BUB1 113.11 99.87 BUB1B 111.44 95.54 BVES 118.92 99.70 C10orf11 137.59 99.74 C10orf2 197.81 100 C11orf73 77.84 98.10 C11orf83 158.07 100 C12orf4 89.01 97.55 C12orf57 254.44 100 C12orf65 117.83 99.74 C15orf41 115.49 99.66 C17orf62 144.38 99.98 C19orf12 106.11 75.56 C19orf70 103.22 99.17 C1GALT1C1 107.66 100 C1QA 79.98 99.54 C1QB 148.15 100 C1QBP 121.55 95.30 C1QC 105.44 97.70 C1QTNF5 177.96 100 C1R 183.02 99.92 C1S 144.35 100 C2 152.78 89.79 C21orf59 96.61 99.00 C2CD3 132.45 97.28 C2orf71 127.27 99.94 C3 171.72 99.98 C4A 192.08 99.52 C4B 189.70 99.59 C4orf26 68.59 85.32 C5 103.37 98.17 C5orf42 96.01 97.26 C6 116.80 99.68 C7 112.11 94.85 C8A 155.99 99.88 C8B 132.92 99.72 C8G 172.67 99.97

C8orf37 114.73 99.74 C9 125.17 99.81 C9orf142 120.96 94.12 C9orf72 89.78 99.25 CA12 127.27 98.86 CA2 126.75 99.99 CA4 158.25 100 CA5A 192.47 99.48 CA8 86.27 98.03 CABP2 100.27 98.15 CABP4 132.53 99.98 CACNA1A 129.94 94.95 CACNA1B 157.38 97.15 CACNA1C 135.31 99.79 CACNA1D 135.06 99.68 CACNA1F 121.23 98.17 CACNA1G 130.83 98.87 CACNA1H 118.89 93.99 CACNA1S 173.38 99.56 CACNA2D1 79.90 91.98 CACNA2D2 154.68 99.66 CACNA2D4 143.15 99.99 CACNB2 119.02 99.39 CACNB4 112.19 99.57 CACNG2 188.41 100 CAD 176.54 99.98 CALCR 106.48 97.76 CALM1 115.05 100 CALM2 51.74 69.66 CALM3 149.02 99.03 CALR 200.34 100 CALR3 97.58 87.99 CAMK2A 130.48 99.87 CAMK2B 150.87 98.65 CAMTA1 140.12 96.59 CANT1 146.07 99.94 CAP2 101.06 99.88 CAPN1 171.38 96.07 CAPN10 121.09 99.89 CAPN12 118.94 93.02 CAPN3 132.88 96.67 CAPN5 161.52 97.72 CARD11 143.44 99.83 CARD14 118.41 93.52 CARD9 145.03 99.70 CARS2 141.32 97.16 CARTPT 129.78 99.30 CASC5 81.19 90.49 CASK 90.52 98.39 CASP10 127.02 99.99

CASP12 127.13 98.41 CASP14 172.54 100 CASP8 129.96 99.97 CASQ1 169.40 100 CASQ2 130.23 99.96 CASR 137.16 99.80 CAST 92.46 96.11 CAT 148.23 100 CATSPER1 134.81 99.91 CAV1 110.37 99.96 CAV3 86.64 100 CBL 119.53 99.90 CBS 145.27 99.74 CBX2 71.94 79.37 CC2D1A 137.36 99.58 CC2D2A 117.90 99.82 CCBE1 148.31 99.56 CCDC103 137.80 100 CCDC11 79.84 90.01 CCDC114 129.97 99.94 CCDC115 98.94 81.61 CCDC137 80.48 81.86 CCDC14 97.10 97.94 CCDC151 90.43 88.02 CCDC174 114.29 98.78 CCDC22 101.06 89.93 CCDC28B 162.97 100 CCDC39 69.10 92.83 CCDC40 127.02 95.43 CCDC50 111.08 99.37 CCDC65 110.65 99.97 CCDC78 146.65 99.98 CCDC8 252.51 100 CCDC88A 73.45 95.65 CCDC88C 127.40 99.84 CCL11 108.48 100 CCL2 104.06 100 CCL3L1 107.02 97.24 CCL5 136.04 99.97 CCM2 151.87 91.69 CCND1 195.98 100 CCND2 134.59 95.44 CCNK 104.25 99.99 CCNO 166.58 99.91 CCR2 195.13 100 CCR5 119.64 100 CCT5 135.17 93.26 CD151 105.63 99.85 CD164 95.09 96.82 CD19 143.56 98.92

CD207 126.79 99.98 CD209 135.45 86.00 CD244 125.44 99.97 CD247 123.81 96.15 CD27 148.26 100 CD2AP 85.38 99.06 CD320 98.56 83.68 CD36 86.17 96.85 CD3D 139.59 100 CD3E 155.58 100 CD3G 127.58 99.85 CD4 147.22 100 CD40 179.16 100 CD40LG 101.39 99.11 CD44 114.42 94.54 CD46 88.21 97.26 CD55 103.26 98.08 CD59 128.17 99.13 CD79A 78.00 94.89 CD79B 215.73 100 CD81 142.28 90.83 CD8A 144.11 99.08 CD96 111.16 99.88 CDAN1 134.81 99.97 CDC14A 92.19 99.64 CDC42 94.21 99.76 CDC45 164.22 99.93 CDC6 142.32 100 CDC73 107.98 99.68 CDCA7 118.63 98.03 CDH15 134.26 99.49 CDH23 175.71 97.81 CDH3 156.13 99.64 CDHR1 164.86 95.70 CDK10 157.02 99.82 CDK13 88.43 97.07 CDK5 147.93 100 CDK5RAP2 116.56 99.04 CDK6 112.33 99.53 CDKAL1 96.87 98.85 CDKL5 95.09 98.15 CDKN1A 133.36 93.88 CDKN1C 86.88 99.74 CDKN2B 102.23 99.47 CDKN2C 141.03 100 CDON 127.87 99.89 CDSN 141.53 100 CDT1 115.37 91.47 CEACAM16 108.78 88.38 CEBPE 114.86 100

CECR1 159.99 99.99 CEL 151.39 99.73 CELSR2 190.49 99.99 CENPE 58.79 93.05 CENPF 110.14 99.63 CENPJ 95.62 98.96 CEP104 121.07 99.88 CEP120 93.47 98.93 CEP135 74.82 98.15 CEP152 92.12 95.63 CEP164 131.23 99.80 CEP19 138.52 100 CEP290 56.01 81.86 CEP41 111.61 99.85 CEP57 101.88 99.39 CEP63 90.65 99.32 CEP78 96.94 94.89 CEP83 58.22 90.27 CEP89 97.09 94.18 CERKL 88.20 98.96 CERS1 131.87 85.50 CERS3 96.72 99.49 CES1 160.45 92.70 CETP 164.01 99.98 CFB 179.90 96.97 CFC1 192.66 85.44 CFD 110.44 90.75 CFH 93.55 98.03 CFHR1 88.28 92.21 CFHR2 95.99 98.78 CFHR3 76.01 85.73 CFHR4 69.73 86.79 CFHR5 80.26 99.48 CFI 92.65 88.11 CFL2 50.33 89.70 CFP 89.61 95.84 CFTR 108.32 98.20 CHAMP1 223.03 100 CHAT 153.52 94.41 CHCHD10 61.28 72.31 CHCHD2 94.65 99.18 CHD1 79.64 95.20 CHD2 119.64 97.37 CHD3 146.57 94.13 CHD4 130.21 99.99 CHD7 123.61 99.92 CHD8 127.76 99.83 CHI3L1 153.02 100 CHIC2 90.70 81.45 CHIT

CHIT1 174.99 99.99 CHKB 192.07 99.74 CHM 75.98 87.98 CHMP1A 129.43 99.91 CHMP2B 61.88 95.76 CHMP4B 170.72 99.95 CHN1 85.48 97.69 CHRDL1 105.43 99.36 CHRM2 107.95 100 CHRM3 0.14 0 CHRNA1 114.61 99.89 CHRNA2 186.87 100 CHRNA3 120.24 100 CHRNA4 140.41 99.96 CHRNA5 71.09 92.99 CHRNB1 102.21 90.47 CHRNB2 118.52 90.96 CHRND 129.22 97.62 CHRNE 182.09 99.97 CHRNG 119.72 98.64 CHST14 165.96 100 CHST3 104.36 100 CHST6 108.99 100 CHST8 102.45 77.50 CHSY1 128.87 99.87 CHUK 90.33 99.63 CIB2 168.22 100 CIC 123.04 99.78 CIDEC 157.37 99.18 CIITA 131.15 91.71 CILP 179.53 99.80 CIRH1A 118.49 94.01 CISD2 120.92 80.13 CISH 150.23 100 CIT 118.48 99.82 CITED2 158.06 100 CIZ1 127.85 97.36 CKAP2L 104.36 99.20 CLCF1 85.87 98.73 CLCN1 152.62 99.97 CLCN2 167.01 99.98 CLCN4 136.08 99.88 CLCN5 128.86 99.76 CLCN7 154.30 99.74 CLCNKA 99.65 92.46 CLCNKB 94.74 95.96 CLDN1 110.59 99.31 CLDN10 129.78 99.61 CLDN14 97.52 100 CLDN16 135.42 100

CLDN19 154.27 99.92 CLEC4D 146.59 99.89 CLEC7A 107.14 96.42 CLIC2 96.23 98.45 CLIC5 157.02 99.98 CLIP1 116.39 96.63 CLMP 148.55 100 CLN3 132.95 96.44 CLN5 153.42 99.21 CLN6 148.59 95.08 CLN8 187.42 100 CLP1 156.62 100 CLPB 153.60 97.24 CLPP 145.76 99.41 CLRN1 117.49 99.94 CLTC 112.93 94.09 CNBP 92.06 98.43 CNGA1 87.70 99.07 CNGA3 129.08 99.70 CNGB1 139.49 98.45 CNGB3 104.80 99.31 CNKSR2 84.02 94.75 CNNM2 121.88 99.91 CNNM4 168.20 100 CNPY3 151.67 94.06 CNTN1 114.97 99.37 CNTN2 167.09 100 CNTNAP1 188.94 99.99 CNTNAP2 128.41 99.81 COA1 93.89 100 COA3 171.67 100 COA5 67.80 93.15 COA6 115.34 100 COA7 191.65 100 COASY 191.97 100 COCH 114.03 95.41 COG1 152.11 99.85 COG4 155.25 99.99 COG5 87.40 98.23 COG6 78.05 97.07 COG7 130.54 100 COG8 136.66 99.89 COL10A1 90.08 100 COL11A1 82.71 97.89 COL11A2 117.04 99.48 COL12A1 103.31 99.05 COL13A1 122.41 95.90 COL14A1 119.49 99.68 COL17A1 125.54 99.85 COL18A1 96.62 91.31

COL1A1 149.69 98.58 COL1A2 99.32 97.85 COL25A1 103.23 99.40 COL27A1 127.21 98.39 COL2A1 140.89 99.94 COL3A1 91.43 96.91 COL4A1 115.38 99.87 COL4A2 135.54 98.47 COL4A3 124.05 98.23 COL4A3BP 101.81 96.54 COL4A4 104.27 99.89 COL4A5 79.86 96.19 COL4A6 93.31 95.59 COL5A1 139.44 98.50 COL5A2 102.24 99.55 COL6A1 127.68 98.95 COL6A2 144.10 97.23 COL6A3 155.13 97.73 COL7A1 158.66 99.79 COL8A2 169.96 100 COL9A1 86.99 99.08 COL9A2 97.04 98.65 COL9A3 97.17 94.12 COLEC11 164.48 99.40 COLQ 134.24 99.87 COMP 140.26 95.20 COMT 160.49 81.08 COPA 138.70 99.99 COQ2 91.77 92.76 COQ4 140.14 87.44 COQ5 110.93 99.97 COQ6 148.32 99.99 COQ7 134.66 99.98 COQ9 116.94 99.41 CORIN 149.57 99.87 CORO1A 153.48 99.31 COX10 118.37 99.81 COX14 168.40 100 COX15 137.49 100 COX20 61.36 71.12 COX4I1 161.19 97.97 COX4I2 197.39 100 COX5A 56.05 89.70 COX5B 176.04 100 COX6A1 162.24 80.28 COX6A2 57.71 83.31 COX6B1 161.70 100 COX6B2 91.26 99.65 COX6C 102.31 99.08 COX7A1 84.03 65.96

COX7A2 80.86 79.27 COX7B 47.45 77.02 COX7B2 138.46 100 COX7C 64.19 94.15 COX8A 171.64 100 COX8C 47.98 81.65 CP 83.97 88.83 CPA6 110.46 98.90 CPAMD8 135.51 97.49 CPLX1 96.32 99.22 CPN1 131.91 99.97 CPOX 139.50 100 CPS1 124.19 98.86 CPT1A 156.95 99.99 CPT1C 117.66 94.68 CPT2 124.50 99.34 CPZ 164.13 98.88 CR1 125.45 97.69 CR2 112.59 96.41 CRADD 120.32 83.68 CRB1 126.27 99.51 CRB2 91.99 98.12 CRBN 84.60 98.30 CREB1 129.72 99.52 CREB3L1 133.48 99.81 CREBBP 114.06 96.44 CRELD1 124.47 97.81 CRIPT 77.67 98.90 CRLF1 156.50 98.22 CRTAP 140.21 99.98 CRTC1 111.61 98.33 CRX 91.76 51.84 CRYAA 168.68 76.09 CRYAB 164.40 100 CRYBA1 122.23 99.37 CRYBA2 117.03 99.44 CRYBA4 135.30 99.92 CRYBB1 188.31 100 CRYBB2 212.64 100 CRYBB3 162.92 100 CRYGB 121.50 100 CRYGC 105.22 99.00 CRYGD 133.54 100 CRYGS 157.58 99.91 CRYM 117.05 90.22 CSF1R 150.09 99.35 CSF2RA 64.28 89.44 CSF2RB 128.97 99.62 CSF3R 119.96 99.84 CSNK1D 111.31 73.95

CSNK2A1 92.38 91.40 CSPP1 90.72 96.45 CSRP3 130.80 100 CST3 197.45 100 CSTA 154.41 99.61 CSTB 157.00 100 CTBP1 116.28 85.67 CTC1 153.98 99.97 CTCF 158.22 99.96 CTDP1 145.07 89.53 CTF1 59.68 64.35 CTH 128.04 99.99 CTLA4 155.65 99.97 CTNNA3 109.21 99.21 CTNNB1 126.07 92.65 CTNND1 142.98 99.99 CTNND2 123.02 95.70 CTNS 161.45 98.32 CTPS1 127.87 98.35 CTRC 148.58 86.68 CTSA 161.71 100 CTSC 123.08 100 CTSD 175.34 99.84 CTSF 138.49 97.77 CTSK 132.17 100 CTTNBP2 107.79 95.65 CUBN 123.25 99.86 CUL3 88.98 97.90 CUL4B 76.20 97.13 CUL7 166.78 99.98 CUX1 123.11 97.99 CUX2 127.09 97.13 CWF19L1 98.06 99.67 CX3CR1 171.97 100 CXCL12 106.48 86.30 CXCR1 308.36 100 CXCR4 155.42 99.94 CXorf56 96.98 99.59 CYB5A 106.61 99.98 CYB5R3 185.10 99.99 CYBA 128.04 91.55 CYBB 104.20 98.06 CYC1 150.47 92.34 CYCS 93.50 100 CYLD 107.37 98.79 CYP11A1 161.72 99.99 CYP11B1 207.32 100 CYP11B2 171.24 99.97 CYP17A1 186.10 100 CYP19A1 124.97 99.84

CYP1A2 188.99 100 CYP1B1 125.86 99.87 CYP21A2 171.62 98.05 CYP24A1 130.82 100 CYP26B1 164.96 98.67 CYP26C1 110.07 99.91 CYP27A1 201.64 100 CYP27B1 146.36 99.96 CYP2A6 231.21 99.99 CYP2B6 144.00 100 CYP2C CYP2C19 140.93 99.33 CYP2C8 108.37 99.44 CYP2C9 133.65 98.70 CYP2D6 186.22 99.67 CYP2R1 102.62 98.71 CYP2U1 104.16 99.92 CYP3A4 103.88 96.74 CYP3A5 113.53 99.72 CYP4F2 158.87 99.97 CYP4F22 129.78 91.83 CYP4V2 137.89 99.45 CYP7A1 111.81 99.26 CYP7B1 112.64 99.65 D2HGDH 145.52 99.47 DAG1 186.14 100 DAND5 104.17 99.39 DAPK3 160.41 100 DARS 91.31 99.17 DARS2 116.34 99.75 DAZL 60.42 84.03 DBET DBH 129.21 99.32 DBT 79.77 96.80 DCAF17 90.56 93.49 DCAF8 135.79 89.49 DCC 107.30 88.54 DCDC2 103.17 99.25 DCHS1 189.84 100 DCLRE1B 94.38 100 DCLRE1C 101.08 93.23 DCN 112.27 90.43 DCPS 165.65 99.63 DCTN1 153.49 99.81 DCX 131.80 99.89 DCXR 180.94 88.85 DDB2 160.63 99.98 DDC 122.24 99.94 DDHD1 117.03 99.70 DDHD2 110.64 99.75

DDOST 188.68 100 DDR2 130.15 99.68 DDX11 253.47 99.07 DDX3X 101.79 99.07 DDX41 186.64 96.47 DDX58 107.59 99.06 DDX59 109.48 99.80 DEAF1 151.20 92.74 DECR1 103.60 96.80 DENND5A 120.76 96.59 DEPDC5 132.81 99.08 DES 164.13 100 DFNA5 130.09 99.98 DFNB31 126.14 99.85 DFNB59 124.51 98.60 DGAT1 198.63 96.37 DGCR2 124.29 90.87 DGKE 109.11 99.52 DGUOK 124.81 99.70 DHCR24 170.72 99.62 DHCR7 154.54 99.99 DHDDS 128.56 90.69 DHFR 61.08 82.55 DHH 204.98 100 DHODH 106.81 89.58 DHTKD1 126.75 99.94 DHX30 148.07 99.92 DIABLO 126.88 100 DIABLO 126.88 100 DIAPH1 125.87 96.66 DIAPH2 61.27 92.13 DIAPH3 78.01 96.63 DIP2B 129.35 99.47 DIS3L2 129.41 98.90 DISC1 108.81 90.16 DKC1 113.52 99.16 DLAT 107.17 99.80 DLC1 144.66 98.06 DLD 108.92 99.88 DLG3 109.58 98.98 DLG4 160.30 99.80 DLL1 147.31 99.92 DLL3 91.32 96.67 DLL4 188.15 95.50 DLST 113.20 92.63 DLX3 135.58 94.01 DLX4 125.50 99.44 DLX5 126.95 100 DMD 85.79 96.25 DMGDH 100.57 99.81

DMP1 103.22 98.93 DMPK 133.79 99.88 DMXL2 99.05 98.87 DNA2 85.74 98.62 DNAAF1 93.59 93.40 DNAAF2 118.61 99.96 DNAAF3 106.24 97.53 DNAH1 186.50 99.98 DNAH11 112.52 97.45 DNAH5 109.19 99.29 DNAH6 108.97 99.12 DNAI1 154.82 98.04 DNAI2 175.76 99.97 DNAJB13 178.01 99.98 DNAJB2 134.71 99.75 DNAJB6 85.63 93.04 DNAJC12 103.21 85.55 DNAJC13 101.58 99.25 DNAJC19 58.67 95.52 DNAJC21 97.40 99.34 DNAJC3 100.57 99.27 DNAJC5 194.52 100 DNAJC6 120.02 99.54 DNAL1 110.82 98.33 DNAL4 131.44 99.26 DNASE1 177.29 100 DNASE1L3 133.38 100 DNM1 170.74 95.98 DNM1L 106.28 99.49 DNM2 138.95 92.80 DNMT1 129.44 97.55 DNMT3A 140.91 99.32 DNMT3B 154.91 95.84 DOCK2 140.55 99.91 DOCK6 147.27 94.99 DOCK7 92.60 97.26 DOCK8 117.65 97.04 DOK7 83.81 77.77 DOLK 98.65 100 DONSON 108.02 99.49 DPAGT1 151.44 99.99 DPF2 142.82 99.94 DPH1 140.46 99.69 DPM1 69.25 95.10 DPM2 135.50 94.59 DPM3 144.35 100 DPP6 152.12 99.59 DPY19L2 52.54 66.51 DPYD 101.13 98.01 DPYS 135.47 100

DRAM2 89.55 86.73 DRC1 113.53 99.73 DRD2 193.19 100 DRD3 150.84 99.98 DRD4 47.87 68.51 DRD5 2.61 2.23 DSC1 100.45 96.82 DSC2 95.21 99.48 DSC3 68.80 89.94 DSE 152.53 99.72 DSG1 86.16 96.72 DSG2 114.41 98.56 DSG3 112.00 99.20 DSG4 120.22 98.69 DSP 119.16 99.95 DSPP 95.45 99.64 DST 97.44 99.05 DSTYK 130.89 99.98 DTHD1 108.59 99.92 DTNA 127.70 96.34 DTNBP1 102.06 93.37 DUOX2 158.28 99.80 DUOXA2 132.49 99.98 DUSP6 240.53 100 DVL1 129.79 96.19 DVL3 153.44 99.90 DYM 91.77 89.73 DYNC1H1 166.57 99.98 DYNC2H1 83.42 98.01 DYNC2LI1 89.17 87.07 DYRK1A 97.16 93.57 DYRK1B 131.51 99.57 DYSF 145.48 99.93 DYX1C1 77.43 97.22 EARS2 112.78 92.82 EBF3 136.22 99.99 EBP 140.83 99.94 ECE1 164.45 95.24 ECEL1 151.20 100 ECHS1 145.33 89.22 ECM1 139.55 100 ECSIT 125.31 85.58 EDA 77.44 84.04 EDA 77.44 84.04 EDA2R 129.67 99.72 EDAR 157.53 90.22 EDARADD 97.08 99.03 EDC3 140.31 98.25 EDN1 131.90 99.82 EDN3 115.61 99.32

EDNRA 106.11 98.93 EDNRB 110.59 97.71 EEF1A2 177.64 98.58 EEF2 158.81 93.83 EFEMP1 140.98 99.29 EFEMP2 130.57 99.90 EFHC1 123.71 99.68 EFNB1 129.58 99.90 EFNB2 132.00 99.76 EFTUD2 142.15 100 EGF 128.82 99.66 EGLN1 82.93 99.42 EGR2 152.86 100 EHBP1 104.10 99.48 EHHADH 142.12 99.91 EHMT1 168.55 96.50 EIF2AK3 100.39 99.64 EIF2AK4 112.71 99.44 EIF2B1 122.42 99.96 EIF2B2 123.10 97.77 EIF2B3 99.34 91.04 EIF2B4 164.49 99.99 EIF2B5 164.68 99.98 EIF2S3 89.04 97.56 EIF4A3 111.29 99.89 EIF4E 42.00 63.37 EIF4G1 156.33 99.95 ELAC2 148.19 99.97 ELANE 108.24 96.15 ELF4 142.87 99.36 ELMO2 152.40 99.72 ELMOD3 168.59 99.98 ELN 109.32 94.99 ELOVL4 89.97 99.19 ELOVL5 128.47 99.96 ELP2 122.69 98.85 ELP4 88.05 98.21 EMC1 142.19 99.97 EMD 113.06 96.83 EMG1 161.31 100 EML1 136.74 94.49 EMP2 119.78 99.94 EMR2 178.27 98.02 EMX2 147.12 100 ENAM 117.19 99.77 ENG 151.75 99.66 ENO3 170.92 91.83 ENPP1 98.09 93.77 ENTPD1 122.88 98.57 EOGT 114.96 99.97

EP300 110.55 99.72 EPAS1 148.79 99.99 EPB41 112.31 99.88 EPB41L1 141.71 95.34 EPB42 159.61 99.99 EPCAM 81.87 98.28 EPG5 122.65 97.80 EPHA2 135.91 94.12 EPHB2 193.60 94.73 EPHB4 145.74 99.98 EPHX1 148.01 99.84 EPHX2 147.61 99.96 EPM2A 93.54 99.63 EPO 103.56 92.08 EPOR 164.98 88.70 EPS8 90.39 94.83 EPX 144.46 99.92 ERAL1 192.29 100 ERBB2 135.21 92.68 ERBB3 150.13 99.99 ERBB4 111.41 99.71 ERCC1 128.66 89.77 ERCC2 144.94 99.90 ERCC3 135.66 99.86 ERCC4 92.30 91.78 ERCC5 111.14 99.95 ERCC6 116.08 99.96 ERCC6L2 99.25 94.79 ERCC8 80.59 96.17 ERF 171.14 99.26 ERLIN1 116.25 99.92 ERLIN2 141.16 99.81 ERMAP 121.79 100 ERMARD 121.14 99.26 ESAM 136.24 98.94 ESCO2 98.12 97.66 ESPN 97.20 89.06 ESR1 155.84 99.88 ESRRB 137.61 99.29 ETFA 93.75 83.84 ETFB 133.63 99.98 ETFDH 125.79 99.13 ETHE1 128.30 99.81 ETV6 151.17 99.88 EVC 128.03 95.28 EVC2 129.98 99.82 EVC2 129.98 99.82 EWSR1 97.90 96.65 EXOC8 153.12 100 EXOSC2 143.50 99.83

EXOSC3 58.40 93.68 EXOSC8 89.84 98.62 EXOSC9 125.00 92.84 EXPH5 107.68 97.66 EXT1 125.47 99.83 EXT2 128.97 97.86 EYA1 127.41 99.80 EYA4 104.43 98.77 EYS 104.27 96.79 EZH2 105.15 99.44 F10 164.04 99.16 F11 123.61 99.67 F12 145.08 99.63 F13A1 144.96 99.99 F13B 79.08 97.94 F2 145.80 97.92 F5 118.82 97.71 F7 145.32 88.71 F8 107.25 96.18 F9 80.78 97.02 FA2H 136.79 87.78 FAAH 152.98 99.36 FAAH2 95.44 98.80 FADD 159.62 100 FAH 176.83 99.99 FAM111A 106.67 100 FAM111B 86.23 96.98 FAM126A 93.83 99.29 FAM134B 108.96 98.66 FAM161A 66.51 88.02 FAM20A 142.49 91.80 FAM20C 144.75 91.44 FAM58A 127.75 79.90 FAM65B 123.80 99.98 FAM83G 176.56 100 FAM83H 165.04 99.70 FANCA 144.24 97.75 FANCB 68.94 96.86 FANCB 68.94 96.86 FANCC 118.81 99.69 FANCD2 113.96 98.44 FANCE 144.69 91.28 FANCF 118.95 100 FANCG 172.71 99.28 FANCI 116.92 99.84 FANCL 73.55 97.27 FANCM 92.76 99.00 FAR1 79.51 95.57 FARS2 123.39 99.96 FARSB 89.57 97.20

FAS 184.44 99.69 FASLG 107.45 99.87 FASTKD2 101.85 99.57 FAT2 180.63 100 FAT4 127.10 99.92 FBLN1 152.93 96.73 FBLN5 126.86 91.50 FBN1 128.02 99.72 FBN2 130.44 99.87 FBP1 137.12 100 FBXL4 119.57 99.89 FBXO11 80.22 98.77 FBXO31 126.30 99.94 FBXO38 114.00 99.56 FBXO7 90.28 95.94 FCGR1A 190.82 99.94 FCGR2A 182.43 100 FCGR2B 199.44 98.37 FCGR3A 276.60 99.72 FCGR3B 215.38 99.46 FCGRT 56.31 49.49 FCN3 117.18 87.76 FDPS 145.41 98.64 FDX1L 107.53 99.74 FDXR 136.07 99.80 FECH 108.65 92.42 FERMT1 104.60 99.92 FERMT1 104.60 99.92 FERMT3 120.34 99.18 FERMT3 120.34 99.18 FEZF1 132.59 100 FFAR4 107.92 99.95 FGA 127.31 99.85 FGB 127.08 99.96 FGD1 127.15 99.55 FGD4 76.15 91.56 FGF10 98.82 99.70 FGF12 97.91 99.31 FGF14 148.17 98.93 FGF16 74.78 98.95 FGF17 148.26 99.76 FGF20 106.75 99.35 FGF23 128.81 100 FGF3 135.46 97.77 FGF5 114.20 99.70 FGF8 90.32 92.73 FGF9 131.14 99.96 FGFR1 142.27 99.98 FGFR2 116.12 99.98 FGFR3 122.02 98.53

FGFR4 143.30 95.96 FGG 81.75 97.53 FHL1 122.39 99.82 FHL2 144.93 94.95 FIBP 163.75 100 FIG4 103.70 99.17 FIGLA 113.04 99.03 FIGN 134.16 100 FKBP10 136.03 98.07 FKBP14 106.03 99.87 FKBP5 93.77 92.19 FKBPL 157.72 100 FKRP 34.60 86.11 FKTN 111.69 92.06 FLAD1 167.83 100 FLG 233.83 100 FLG2 223.57 99.08 FLI1 106.01 91.60 FLNA 154.79 99.69 FLNB 165.17 100 FLNC 154.25 99.17 FLRT3 150.18 100 FLT3 100.48 99.66 FLT4 147.96 91.78 FLVCR1 105.85 99.80 FLVCR2 129.73 99.98 FMN2 106.66 94.81 FMO3 109.19 99.69 FMR1 83.05 93.69 FN1 141.64 99.99 FOLR1 154.77 100 FOS 130.38 99.44 FOXC1 113.71 100 FOXC2 39.45 90.04 FOXD3 44.38 96.07 FOXD4 12.69 12.58 FOXE1 47.50 96.46 FOXE3 45.59 95.54 FOXF1 120.08 100 FOXF2 112.47 100 FOXG1 31.05 75.10 FOXH1 191.72 100 FOXI1 171.75 100 FOXL1 98.95 100 FOXL2 127.16 100 FOXN1 114.13 99.79 FOXO1 101.66 50 FOXP1 125.95 99.91 FOXP2 105.00 94.46 FOXP3 110.86 93.66

FOXRED1 197.56 99.99 FPR1 30.99 69.33 FRAS1 134.32 99.80 FREM1 133.07 99.83 FREM2 129.84 95.85 FRMD4A 110.09 92.44 FRMD7 105.43 99.63 FRMPD4 104.16 97.97 FRRS1L 117.29 99.95 FRZB 78.46 97.60 FSCN2 197.20 100 FSHB 130.83 99.94 FSHR 137.88 99.77 FTCD 135.65 93.16 FTH1 129.03 99.95 FTL 111.22 98.89 FTO 159.51 99.79 FTSJ1 122.99 98.61 FTSJ2 115.17 80.10 FUCA1 105.40 100 FUS 121.94 99.64 FUT1 177.77 100 FUT2 99.40 100 FUT3 240.24 100 FUT6 126.73 98.95 FUT8 114.61 99.44 FUZ 128.52 94.24 FXN 94.25 88.36 FXYD2 100.25 99.81 FYCO1 145.15 99.99 FZD4 138.34 100 FZD6 98.15 99.83 G6PC 163.89 100 G6PC3 102.28 72.05 G6PD 137.44 99.18 GAA 125.35 99.81 GABBR2 164.47 99.52 GABRA1 113.79 99.54 GABRA2 105.44 99.03 GABRA3 97.84 97.69 GABRB1 161.78 99.87 GABRB2 138.71 99.57 GABRB3 136.16 98.14 GABRD 146.94 88.79 GABRG2 102.05 98.43 GAD1 135.52 99.99 GAL 128.06 96.20 GALC 82.89 92.03 GALE 170.03 99.96 GALK1 87.23 82.29

GALNS 128.78 94.13 GALNT11 136.67 99.45 GALNT12 126.04 98.44 GALNT3 109.32 99.03 GALT 169.87 99.98 GAMT 132.81 99.94 GAN 117.92 99.96 GANAB 164.32 99.85 GARS 118.29 99.72 GAS1 111.32 100 GAS8 116.90 90.71 GATA1 112.52 98.85 GATA3 174.99 100 GATA4 105.86 94.50 GATA5 79.59 96.64 GATA6 93.70 99.28 GATAD1 105.87 99.79 GATAD2B 128.78 99.95 GATC 145.97 77.77 GATM 95.91 89.97 GBA 279.72 100 GBA2 183.96 100 GBE1 108.95 99.36 GCDH 138.67 97.00 GCGR 108.50 99.62 GCH1 118.86 95.12 GCK 132.84 96.65 GCKR 148.11 99.16 GCLC 103.85 99.34 GCLM 121.85 97.27 GCM2 156.22 100 GCNT2 131.93 99.54 GCSH 56.61 85.28 GDAP1 121.91 99.76 GDAP2 107.52 98.27 GDF1 128.96 99.02 GDF2 210.04 100 GDF3 139.92 100 GDF5 191.72 100 GDF6 166.25 100 GDI1 164.84 99.85 GDNF 88.81 98.91 GFAP 120.50 99.74 GFER 83.44 66.06 GFI1 107.41 99.76 GFI1B 142.27 100 GFM1 111.76 99.93 GFM2 96.25 98.61 GFPT1 97.60 99.67 GGCX 140.36 99.99

GH1 191.76 100 GHR 116.78 99.14 GHRHR 126.54 99.96 GHRL 116.42 99.90 GHSR 170.10 100 GIF 132.69 100 GIGYF2 120.10 98.59 GIPC3 163.09 99.98 GJA1 149.37 100 GJA3 94.07 100 GJA5 129.91 100 GJA8 300.49 100 GJB1 145.47 100 GJB2 151.81 100 GJB3 309.57 100 GJB4 233.98 100 GJB6 208.80 100 GJC2 132.43 100 GK 52.93 74.42 GLA 98.81 87.71 GLB1 144.49 99.98 GLCCI1 125.55 89.34 GLDC 101.30 96.86 GLDN 110.09 99.95 GLE1 157.52 100 GLI2 150.31 99.81 GLI3 147.56 100 GLIS2 112.94 99.67 GLIS3 121.40 98.82 GLML GLMN 63.22 94.17 GLRA1 136.15 99.97 GLRB 100.10 96.62 GLRX5 125.42 98.73 GLUD1 98.20 85.16 GLUD2 148 100 GLUL 133.74 99.96 GLYCTK 175.86 100 GM2A 122.87 99.66 GMNN 93.17 99.87 GMPPA 163.84 99.98 GMPPB 244.50 100 GNA11 114.44 99.97 GNAI2 181.06 98.00 GNAI3 120.45 99.07 GNAL 131.43 92.93 GNAO1 152.48 99.90 GNAQ 87.15 96.31 GNAS 127.55 96.03 GNAS-AS1

GNAT1 196.37 100 GNAT2 133.15 100 GNB1 148.49 99.99 GNB3 148.53 99.30 GNB4 81.73 97.23 GNB5 124.05 99.99 GNE 149.06 99.75 GNMT 157.32 99.94 GNPAT 120.84 99.82 GNPTAB 100.72 98.32 GNPTG 137.45 93.40 GNRH1 82.74 99.74 GNRHR 106.43 99.91 GNS 114.90 93.22 GORAB 106.16 86.01 GOSR2 118.94 87.04 GOT1 147.96 99.78 GP1BA 90.70 100 GP1BB 114.00 99.94 GP6 139.17 99.90 GP9 128.30 100 GPC3 85.81 99.37 GPC4 118.64 99.53 GPC6 139.52 99.99 GPD1 157.85 100 GPD1L 121.80 99.61 GPD2 88.38 98.47 GPHN 118.76 95.93 GPI 180.13 99.76 GPIHBP1 99.96 76.90 GPR101 124.97 100 GPR126 98.30 99.20 GPR143 93.94 84.98 GPR161 167.52 100 GPR179 132.90 99.36 GPR56 147.12 99.96 GPR64 87.34 95.68 GPR68 105.72 100 GPR88 108.86 100 GPR98 112.17 99.47 GPSM2 123.04 99.93 GPT2 131.60 92.52 GPX1 155.28 100 GPX4 184.28 87.94 GREM1 123.33 100 GREM2 22.12 55.83 GRHL2 135.56 99.83 GRHL3 145.98 94.27 GRHPR 116.55 88.85 GRIA3 105.27 99.18

GRIA4 107.35 96.53 GRID2 109.30 99.14 GRIK2 99.10 93.51 GRIK4 139.82 99.77 GRIN1 165.61 95.81 GRIN2A 151.19 91.66 GRIN2B 145.58 99.63 GRIN2D 119.70 99.49 GRIN3B 99.51 76.13 GRIP1 119.76 99.70 GRK1 131.43 99.64 GRM1 150.82 99.81 GRM6 172.34 99.99 GRN 159.63 99.77 GRXCR1 106.06 98.66 GRXCR2 90.12 99.87 GSC 181.41 100 GSE1 108.67 97.80 GSN 151.25 99.63 GSS 148.09 100 GTF2E2 90.98 98.60 GTF2H5 117.19 99.67 GTPBP2 172.10 99.91 GTPBP3 100.56 92.73 GUCA1A 205.19 100 GUCA1B 180.31 100 GUCY1A3 126.00 99.17 GUCY2C 125.88 99.53 GUCY2D 137.21 99.96 GUF1 88.30 92.66 GUSB 150.78 99.97 GYG1 84.39 97.61 GYPA 79.64 98.53 GYPB 83.70 96.23 GYPC 149.63 78.90 GYS1 162.57 99.96 GYS2 116.69 99.66 H19 H6PD 180.61 100 HAAO 134.83 100 HACE1 82.70 94.59 HADH 128.38 100 HADHA 96.25 96.27 HADHB 92.22 96.04 HAL 123.20 99.61 HAMP 176.75 99.96 HAND1 111.72 100 HAND2 106.76 99.54 HARS 154.13 97.67 HARS2 142.92 99.91

HAS2 111.71 99.96 HAVCR1 122.64 100 HAX1 158.66 100 HBA1 162.92 100 HBA2 119.72 99.91 HBB 161.96 100 HBD 136.14 100 HBG1 188.10 99.96 HBG2 338.07 99.87 HCCS 109.24 99.74 HCFC1 130.01 99.34 HCN1 109.64 99.03 HCN4 153.31 99.82 HCRT 73.64 98.36 HDAC4 127.27 97.18 HDAC6 105.55 99.21 HDAC8 93.17 93.26 HDC 173.26 100 HEATR2 139.33 90.78 HECTD1 94.35 95.69 HECW2 106.94 99.73 HELLS 75.16 97.07 HEPACAM 162.55 91.01 HERC1 117.47 99.67 HERC2 131.92 90.25 HES7 91.86 88.31 HESX1 79.56 98.75 HEXA 137.22 99.98 HEXB 108.08 99.37 HEY2 86.84 96.30 HFE 155.92 99.97 HFE2 230.85 99.78 HFM1 56.12 90.58 HGD 128.42 94.84 HGF 106.37 98.53 HGSNAT 110.40 84.80 HIBCH 71.49 88.75 HINT1 94.02 99.29 HIST1H4C 97.59 100 HIVEP2 115.05 99.52 HJV HK1 144.34 99.96 HLA-A 172.27 99.90 HLA-B 120.46 99.94 HLA-C 113.57 99.98 HLA-DPB1 144.31 99.98 HLA-DQA1 140.95 88.97 HLA-DQB1 102.28 96.42 HLA-DRB1 152.70 96.50 HLCS 131.75 89.02

HMBS 170.92 100 HMCN1 122.76 99.39 HMGA1 74.47 82.05 HMGB3 69.30 93.67 HMGCL 145.40 99.99 HMGCR 104.15 99.38 HMGCS2 144.05 99.88 HMMR 87.13 97.07 HMOX1 114.49 95.49 HMX1 84.54 99.08 HNF1A 139.10 88.86 HNF1B 175.89 99.90 HNF4A 143.75 99.75 HNMT 88.68 98.87 HNRNPA1 113.42 99.99 HNRNPA2B1 92.14 99.85 HNRNPDL 53.04 88.17 HNRNPH2 147.31 100 HNRNPK 84.30 91.45 HNRNPU 79.64 93.30 HOGA1 136.77 99.83 HOMER2 142.63 99.87 HOMEZ 97.94 70.51 HOXA1 156.44 100 HOXA11 169.35 100 HOXA13 83.53 99.94 HOXA2 207.71 100 HOXB1 88.45 99.94 HOXB13 124.27 100 HOXC13 164.49 100 HOXD10 141.94 100 HOXD13 151.30 100 HP 150.80 99.00 HPCA 140.25 66.89 HPD 162.97 99.96 HPGD 90.95 98.82 HPRT1 67.43 93.54 HPS1 131.03 99.83 HPS3 110.86 99.65 HPS4 151.93 99.99 HPS5 103.62 99.64 HPS6 120.38 100 HPSE2 140.08 99.75 HR 108.34 97.09 HRAS 156.68 99.37 HRG 109.18 86.09 HS6ST1 153.03 100 HSD11B1 139.28 99.96 HSD11B2 135.40 85.91 HSD17B10 148.42 99.83

HSD17B3 127.19 99.94 HSD17B4 94.35 92.23 HSD3B2 155.77 99.65 HSD3B7 161.41 99.71 HSF4 148.45 99.69 HSPA1L 86.43 100 HSPA9 94.29 96.26 HSPB1 38.32 77.11 HSPB3 156.45 100 HSPB6 164.35 100 HSPB8 109.32 89.93 HSPD1 59.26 82.00 HSPG2 120.06 99.02 HTR1A 168.75 100 HTR2A 147.30 99.97 HTRA1 134.24 98.84 HTRA2 168.20 99.95 HTT 136.18 99.65 HUWE1 110.58 99.15 HYAL1 125.43 99.83 HYDIN 120.36 99.87 HYLS1 137.59 100 IARS 104.49 99.25 IARS2 122.80 99.99 IBA57 93.22 98.95 ICAM1 176.22 98.69 ICAM4 211.88 100 ICK 108.91 99.03 ICOS 119.16 99.82 IDH1 106.18 98.30 IDH2 159.86 100 IDH3B 188.61 99.97 IDS 144.65 99.97 IDUA 123.67 87.75 IER3IP1 97.70 91.42 IFIH1 86.15 98.57 IFITM3 103.83 100 IFITM5 112.94 100 IFNAR2 110.35 99.59 IFNG 107.76 99.64 IFNGR1 98.49 98.50 IFNGR2 100.91 89.80 IFNL3 129.14 100 IFRD1 113.77 99.38 IFT122 151.23 95.54 IFT140 148.11 99.96 IFT172 128.43 99.99 IFT27 129.50 89.14 IFT43 145.37 100 IFT52 96.96 99.88

IFT74 77.20 93.89 IFT80 52.04 84.81 IFT81 68.42 83.67 IFT88 81.71 96.57 IGBP1 110.36 98.95 IGF1 103.58 99.74 IGF1R 160.91 99.96 IGF2 142.03 99.74 IGF2BP2 103.66 99.49 IGF2R 144.19 97.88 IGFALS 106.24 99.91 IGFBP7 123.41 99.71 IGHMBP2 147.74 99.97 IGLL1 137.02 99.96 IGSF1 115.33 99.84 IGSF3 173.60 99.89 IHH 164.98 100 IKBKAP 113.45 98.80 IKBKB 142.13 96.77 IKBKG 106.29 94.36 IKZF1 131.62 100 IL10 134.03 99.97 IL10RA 129.47 98.38 IL10RB 111.34 95.51 IL11RA 137.12 99.95 IL12B 138.89 99.54 IL12RB1 124.90 95.38 IL13 158.75 100 IL17F 170.92 100 IL17RA 159.90 99.65 IL17RC 119.08 99 IL17RD 153.49 99.83 IL18 63.86 94.63 IL1B 133.70 100 IL1RAPL1 90.27 99.28 IL1RN 141.81 99.98 IL2 51.29 95.81 IL21 82.87 99.27 IL21R 115.12 89.14 IL23R 74.88 90.56 IL2RA 131.49 99.74 IL2RG 127.99 99.95 IL31RA 127.00 99.91 IL36RN 127.27 96.82 IL4R 132.63 99.69 IL6 92.30 75.98 IL6R 103.93 93.70 IL6ST 71.30 89.45 IL7R 94.45 99.70 ILDR1 112.88 99.75

ILK 183.43 98.64 IMPA1 67.84 85.17 IMPAD1 106.11 85.42 IMPDH1 120.97 93.89 IMPDH2 197.03 100 IMPG1 111.07 99.06 IMPG2 112.00 99.37 INF2 133.15 97.16 ING1 102.42 99.58 INO80 113.11 99.83 INPP5D 150.82 99.59 INPP5E 157.09 99.72 INPP5K 128.20 92.48 INPPL1 157.59 97.34 INS 56.23 99.30 INSL3 162.03 69.33 INSR 144.13 95.47 INVS 129.66 99.94 IPMK 59.51 81.52 IQCB1 79.77 85.34 IQSEC2 88.18 92.67 IRAK3 148.91 99.52 IRAK4 86.94 99.69 IRF1 192.96 100 IRF3 144.99 100 IRF4 154.91 99.97 IRF5 125.92 87.87 IRF6 159.65 100 IRF7 119.91 99.62 IRF8 130.38 100 IRGM 170.64 100 IRS1 126.13 100 IRS2 137.13 100 IRX1 145.65 76.74 IRX5 80.82 98.62 ISCA2 155.33 100 ISCU 119.80 99.88 ISG15 108.84 100 ISL1 178.19 99.63 ISPD 103.52 98.81 ITCH 103.58 95.80 ITGA2B 140.07 96.89 ITGA3 146.05 96.35 ITGA6 128.60 99.98 ITGA7 153.18 99.88 ITGA8 100.48 97.18 ITGAM 136.71 98.39 ITGB1BP2 132.89 99.95 ITGB2 183.31 100 ITGB3 161.05 99.30

ITGB4 141.22 99.27 ITGB6 114.74 92.48 ITIH4 163.82 99.93 ITK 130.06 99.83 ITM2B 82.49 86.01 ITPA 162.09 99.94 ITPKC 149.57 100 ITPR1 135.63 99.89 ITPR2 93.78 98.69 IVD 133.24 99.89 IYD 119.55 99.17 JAG1 155.08 99.98 JAGN1 135.35 100 JAK2 83.67 86.84 JAK3 141.03 99.45 JAM3 124.51 99.99 JARID2 158.75 99.78 JMJD1C 85.96 99.37 JPH1 144.63 100 JPH2 118.14 99.85 JPH3 137.48 93.47 JUP 109.28 96.30 KAL1 103.93 92.00 KALRN 135.35 99.86 KANK1 153.00 93.65 KANK2 167.94 99.79 KANSL1 107.72 99.95 KARS 131.80 99.97 KAT6A 124.34 99.95 KAT6B 105.75 99.93 KATNB1 178.58 99.97 KBTBD13 92.58 100 KCNA1 147.76 100 KCNA2 137.28 99.96 KCNA4 113.27 100 KCNA5 161.88 100 KCNB1 166.40 100 KCNC1 138.38 100 KCNC3 55.74 72.30 KCND3 105.00 100 KCNE1 172 100 KCNE1L 132.06 100 KCNE2 101.17 100 KCNE3 45.81 98.43 KCNH1 141.00 99.86 KCNH2 101.60 98.41 KCNJ1 151.25 100 KCNJ10 161.01 100 KCNJ11 178.99 100 KCNJ13 107.72 99.94

KCNJ18 323.05 100 KCNJ2 160.02 100 KCNJ3 140.27 99.35 KCNJ5 226.56 100 KCNJ6 140.75 66.67 KCNJ8 151.31 100 KCNK18 143.00 100 KCNK3 112.14 99.34 KCNK9 164.26 100 KCNMA1 133.42 99.80 KCNMB1 158.86 100 KCNN4 148.92 100 KCNQ1 118.23 93.68 KCNQ1OT1 KCNQ2 116.84 97.68 KCNQ3 149.53 99.99 KCNQ4 122.77 94.98 KCNQ5 109.96 99.59 KCNT1 131.50 96.03 KCNV2 130.90 100 KCTD1 113.20 99.94 KCTD17 106.89 98.13 KCTD7 115.87 86.52 KDF1 130.06 99.91 KDM1A 105.70 99.71 KDM5B 109.95 96.01 KDM5C 140.34 97.54 KDM6A 70.00 89.00 KDR 127.44 99.73 KDSR 104.60 99.97 KEL 166.15 100 KERA 144.03 98.30 KHDC3L 229.23 100 KHK 135.73 100 KIAA0196 114.02 99.80 KIAA0226 149.72 99.99 KIAA0319 130.53 99.41 KIAA0556 156.09 100.00 KIAA0586 87.45 96.19 KIAA0753 92.88 85.18 KIAA1033 81.58 95.44 KIAA1109 100.80 97.99 KIAA1279 110.38 99.98 KIAA2022 101.88 99.39 KIDINS220 96.75 96.87 KIF11 85.50 97.82 KIF14 68.09 92.64 KIF1A 144.50 99.02 KIF1B 125.37 99.97 KIF1C 153.96 99.99

KIF20A 167.92 100 KIF21A 92.23 98.50 KIF22 192.30 99.99 KIF26B 137.81 96.73 KIF2A 80.70 96.69 KIF4A 90.01 95.62 KIF5A 147.32 99.73 KIF5C 123.26 98.96 KIF7 96.40 95.47 KIR3DL1 143.58 92.75 KIRREL3 155.27 99.95 KISS1 69.83 99.87 KISS1R 72.71 79.34 KITLG 88.13 98.98 KIZ 104.12 99.21 KL 150.28 99.95 KLC2 150.58 99.77 KLF1 94.68 99.96 KLF11 169.70 97.48 KLF6 162.15 100 KLF7 119.80 94.80 KLHDC8B 145.62 99.74 KLHL10 129.55 96.12 KLHL15 113.06 99.94 KLHL24 141.30 100 KLHL3 125.38 93.45 KLHL40 162.97 100 KLHL41 129.31 99.88 KLHL7 113.42 99.70 KLK1 132.44 72.07 KLK4 190.11 100 KLKB1 124.47 99.80 KLLN 77.58 99.87 KMT2A 132.39 99.74 KMT2B 160.64 97.09 KMT2C 109.23 91.92 KMT2D 166.33 99.95 KNG1 126.05 99.96 KPNA7 123.17 99.76 KPTN 130.89 98.42 KRAS 38.35 58.72 KRBOX4 110.16 89.67 KREMEN1 126.43 89.65 KRIT1 81.64 98.87 KRT1 117.77 99.97 KRT10 97.75 99.62 KRT12 138.75 99.97 KRT13 134.20 99.90 KRT14 119.98 99.80 KRT16 103.26 73.61

KRT17 68.09 91.25 KRT18 123.20 99.93 KRT2 138.22 100 KRT25 139.26 100 KRT3 112.35 99.87 KRT4 152.42 100 KRT5 130.92 99.83 KRT6A 238.84 99.64 KRT6B 247.82 100 KRT6C 228.98 100 KRT71 139.15 88.89 KRT74 154.32 99.97 KRT75 157.79 100 KRT8 105.75 99.28 KRT81 189.43 99.88 KRT83 135.52 93.88 KRT85 162.60 99.98 KRT86 195.95 100 KRT9 125.43 99.48 KTU KY 118.06 98.40 KYNU 96.45 95.96 L1CAM 127.95 98.71 L2HGDH 101.84 99.92 LACTB 90.66 99.19 LAMA1 134.93 99.92 LAMA2 132.03 99.33 LAMA3 127.35 95.88 LAMA4 117.70 99.75 LAMB1 126.89 99.60 LAMB2 192.75 99.98 LAMB3 150.44 100 LAMC1 142.50 99.97 LAMC2 147.03 99.99 LAMC3 145.96 99.81 LAMP2 88.95 98.24 LAMTOR2 136.54 75.56 LARGE1 LARP7 62.85 96.40 LARS 95.46 99.06 LARS2 148.33 99.97 LAS1L 121.29 93.40 LAT 104.17 99.29 LBR 81.17 98.23 LCA5 84.78 98.16 LCAT 129.53 75.08 LCK 165.98 99.03 LCT 154.87 99.97 LDB3 150.11 99.96 LDHA 63.84 80.37

LDHB 76.05 95.37 LDLR 167.52 94.85 LDLRAP1 162.77 97.58 LEF1 139.54 100 LEFTY1 169.82 99.80 LEFTY2 148.25 99.74 LEMD2 125.22 99.99 LEMD3 86.11 97.41 LEP 237.34 100 LEPR 86.52 94.13 LEPRE1 185.01 99.84 LEPREL1 106.25 99.39 LFNG 143.04 92.89 LGALS2 198.36 100 LGI1 94.62 98.98 LGR4 101.57 98.80 LHB 124.80 98.60 LHCGR 117.89 99.03 LHFPL5 172.23 99.91 LHX3 127.78 97.30 LHX4 141.16 100 LIAS 120.44 99.98 LIFR 83.70 94.32 LIG1 115.76 97.92 LIG4 174.39 100 LIM2 164.40 99.97 LIMS2 156.59 91.71 LINGO1 156.99 97.05 LINS 96.35 85.85 LIPA 141.13 99.86 LIPC 133.71 99.99 LIPE 131.74 91.67 LIPG 127.62 100 LIPH 97.03 99.92 LIPI 70.08 90.18 LIPN 99.49 97.38 LIPT1 119.84 100 LIPT2 227.79 100 LITAF 127.85 81.02 LMAN1 87.71 94.99 LMAN2L 139.59 99.97 LMBR1 78.67 93.53 LMBRD1 65.41 91.42 LMF1 115.97 92.41 LMNA 92.29 97.61 LMNB1 115.35 99.89 LMNB2 100.51 99.58 LMOD3 130.37 100 LMX1B 106.60 99.11 LONP1 146.17 89.83

LOR 147 100 LOX 135.59 99.53 LOXHD1 145.42 97.73 LOXL1 139.79 99.72 LPA 202.08 99.86 LPAR6 52.92 98.30 LPIN1 108.82 97.63 LPIN2 130.88 99.95 LPL 144.53 99.85 LPP 124.28 99.72 LRAT 172.98 99.81 LRBA 97.21 97.82 LRIG2 120.70 98.24 LRIT3 151.84 100 LRP1 182.26 99.79 LRP2 125.06 99.75 LRP4 185.31 100 LRP5 170.15 95.91 LRP6 115.67 99.94 LRP8 157.06 99.86 LRPAP1 149.89 87.50 LRPPRC 96.00 99.35 LRRC6 85.95 97.69 LRRC8A 201.76 100 LRRK2 95.11 98.37 LRSAM1 162.14 99.80 LRTOMT 136.76 99.37 LSS 142.51 99.74 LTA 83.10 99.87 LTBP2 150.32 99.98 LTBP3 121.09 98.49 LTBP4 137.53 99.36 LTC4S 115.20 98.11 LUM 109.21 98.23 LYRM4 82.20 85.25 LYRM7 68.56 94.09 LYST 99.02 97.72 LYZ 147.34 99.97 LZTFL1 127.44 96.35 LZTR1 147.74 99.92 LZTS1 86.67 98.78 MAB21L2 72.70 99.08 MAD1L1 127.31 99.84 MAD2L2 171.62 100 MAF 134.92 99.87 MAFB 140.41 100 MAG 164.69 99.88 MAGED2 130.58 99.25 MAGEL2 169.51 100 MAGI2 98.13 93.18

MAGT1 91.90 89.60 MAK 121.60 89.66 MAL 150.42 99.90 MALT1 88.79 95.87 MAML1 126.46 99.32 MAML2 133.32 99.82 MAMLD1 108.33 99.55 MAN1B1 136.88 99.13 MAN2B1 158.54 99.83 MANBA 100.09 95.76 MAOA 122.22 99.82 MAP1B 127.64 99.97 MAP2K1 105.02 99.69 MAP2K2 107.92 97.13 MAP3K1 93.01 95.57 MAP3K14 157.61 98.85 MAP3K7 99.28 99.03 MAP3K8 134.18 99.68 MAPK1 157.00 100 MAPK10 109.72 99.73 MAPK8IP1 104.57 88.86 MAPKAP3 MAPKAPK3 155.82 100 MAPKBP1 159.64 96.83 MAPRE2 134.58 99.99 MARS 145.39 95.23 MARS2 0.48 0 MARVELD2 120.43 94.98 MASP1 152.82 99.99 MASP2 140.73 99.90 MASTL 124.50 100 MAT1A 185.30 99.75 MAT2A 115.21 99.93 MATN3 161.39 99.95 MATN4 179.15 99.80 MATR3 92.79 88.86 MAU2 167.62 99.69 MBD5 127.50 99.52 MBL2 138.01 100 MBOAT7 116.64 99.53 MBTPS2 83.28 94.84 MC1R 87.80 99.39 MC2R 180.91 100 MC3R 154.18 100 MC4R 152.94 100 MCC 138.26 99.97 MCCC1 99.74 95.73 MCCC2 105.46 98.57 MCEE 110.16 100 MCFD2 76.70 96.75

MCM2 192.32 100 MCM4 132.93 99.64 MCM6 124.42 99.98 MCM8 109.53 99.92 MCM9 97.09 99.96 MCOLN1 113.15 98.73 MCP MCPH1 117.14 99.84 MCTP2 111.71 99.73 MCUR1 61.85 76.54 MDH2 143.11 90.17 MDM2 82.59 92.63 MECOM 110.87 96.89 MECP2 72.36 86.95 MECR 152.22 100 MED12 124.09 99.31 MED13 109.00 99.74 MED13L 122.47 99.87 MED17 122.82 99.96 MED20 170.84 100 MED23 101.42 98.25 MED25 124.50 98.18 MEF2A 83.67 84.68 MEF2C 142.05 98.77 MEFV 145.16 99.92 MEGF10 138.42 99.91 MEGF8 115.52 98.68 MEIS2 100.43 86.85 MEN1 149.09 97.98 MEOX1 75.73 93.71 MERTK 139.15 99.81 MESP1 154.25 100 MESP2 64.42 68.46 METTL23 197.47 100 MFAP5 112.41 99.98 MFF 91.93 98.82 MFN2 170.36 100 MFRP 130.27 98.97 MFSD2A 137.71 93.24 MFSD8 76.69 97.74 MGAT2 61.06 99.61 MGME1 83.62 77.62 MGP 92.79 87.89 MIAT MIB1 116.69 99.81 MICU1 86.18 98.20 MICU2 63.17 91.82 MID1 114.84 99.37 MID2 96.86 98.49 MIEF2 105.89 99.21

MIF 136.33 99.94 MINPP1 85.45 89.52 MIP 144.97 100 MIPEP 82.60 93.59 MIR17HG MIR184 MIR204 MIR2861 MIR96 MKKS 134.61 99.84 MKL1 109.62 93.89 MKRN3 105.31 95.81 MKS1 156.95 99.88 MLC1 127.22 99.94 MLLT10 101.15 90.50 MLPH 157.34 99.16 MLYCD 116.20 98.86 MMAA 125.57 99.98 MMAB 117.25 98.97 MMACHC 207.52 100 MMADHC 69.36 84.17 MME 89.78 96.74 MMP1 128.50 99.95 MMP13 93.83 90.41 MMP14 197.39 99.99 MMP19 147.84 99.99 MMP2 163.12 99.99 MMP20 111.26 99.92 MMP21 122.58 99.96 MMP3 95.80 99.14 MMP9 137.16 99.47 MN1 116.53 100 MNX1 84.25 82.15 MOCOS 119.56 99.17 MOCS1 105.33 99.98 MOCS2 111.56 99.36 MOG 97.38 91.37 MOGS 185.94 100 MORC2 152.44 99.98 MPC1 96.11 99.96 MPDU1 158.07 100 MPDZ 113.05 99.26 MPI 148.56 99.23 MPL 158.94 99.97 MPLKIP 138.51 100 MPV17 128.19 99.99 MPZ 144.28 100 MR1 147.64 99.45 MRAP 150.01 100 MRAP2 85.03 99.26

MRE11A 63.13 91.50 MRPL12 113.47 98.84 MRPL3 81.37 98.30 MRPL40 88.66 99.74 MRPL44 122.85 99.70 MRPL57 169.27 100 MRPS16 126.62 97.67 MRPS2 85.31 98.50 MRPS22 114.52 99.83 MRPS23 137.60 99.79 MRPS34 123.60 71.60 MRPS7 126.33 99.90 MRRF 143.68 99.98 MS4A1 119.68 99.98 MS4A2 96.78 99.87 MSL3 86.18 96.69 MSMB 78.76 88.14 MSMO1 84.90 99.37 MSN 115.93 98.54 MSR1 96.76 98.25 MSRB3 90.72 90.55 MST1R 173.39 100 MSTN 86.42 99.30 MSTO1 226.13 99.95 MSX1 78.12 99.61 MSX2 96.29 100 MTAP 93.15 84.89 MTFMT 98.09 99.58 MTHFD1 127.55 97.80 MTHFR 178.51 100 MTM1 90.85 97.73 MTMR14 152.71 99.65 MTMR2 98.77 99.61 MTNR1B 169.96 99.97 MTO1 116.43 83.01 MTOR 149.78 100.00 MTPAP 91.04 96.64 MTR 142.52 99.90 MTRR 119.63 99.84 MTTP 113.79 99.55 MUC1 123.29 90.04 MUC5B 150.10 98.26 MUC7 135.03 100 MURC 83.33 99.81 MUSK 110.04 99.31 MUT 95.97 99.06 MVD 122.59 92.13 MVK 119.42 88.91 MXI1 96.36 99.42 MYB 116.99 95.49

MYBPC1 111.67 99.81 MYBPC3 151.15 99.41 MYC 149.10 99.91 MYCN 93.20 99.08 MYD88 156.18 99.97 MYF6 157.21 99.87 MYH11 133.35 99.09 MYH14 112.96 98.88 MYH2 108.12 99.81 MYH3 128.59 99.67 MYH6 133.92 95.68 MYH7 150.63 97.93 MYH8 108.12 99.26 MYH9 129.70 97.70 MYL2 160.62 100 MYL3 116.33 99.91 MYL4 148.37 99.83 MYLIP 122.70 99.44 MYLK 148.60 99.25 MYLK2 156.11 100 MYO15A 148.90 98.69 MYO18B 142.68 98.47 MYO1A 171.54 99.98 MYO1C 108.32 92.19 MYO1E 121.82 96.66 MYO1F 137.50 99.32 MYO3A 92.16 98.73 MYO5A 111.45 99.34 MYO5B 141.49 99.71 MYO6 75.07 95.30 MYO7A 138.93 99.02 MYO9B 146.44 97.54 MYOC 148.54 100 MYOM1 115.17 99.80 MYOT 99.81 99.69 MYOZ1 131.78 99.97 MYOZ2 110.77 99.79 MYPN 119.19 99.92 MYT1L 126.30 99.78 NAA10 104.49 95.18 NAA15 96.17 97.83 NACC1 197.42 98.56 NADK2 92.74 99.47 NAGA 178.64 99.97 NAGLU 146.46 98.03 NAGS 178.27 100 NALCN 110.55 99.37 NANOS1 69.78 99.61 NANS 120.81 99.94 NARS2 89.90 97.97

NAT1 139.21 100 NAT2 154.56 100 NAT8L 82.34 88.51 NBAS 104.78 99.02 NBEA 85.81 94.55 NBEAL2 176.77 98.45 NBN 77.57 98.81 NCF1 94.02 72.37 NCF2 128.86 99.97 NCF4 168.19 99.97 NCR3 147.32 100 NCSTN 131.36 99.95 NDE1 122.01 83.70 NDN 123.54 100 NDNL2 143.44 100 NDP 157.19 100 NDRG1 156.46 99.99 NDST1 167.23 100 NDUFA1 175.92 99.30 NDUFA10 111.63 99.59 NDUFA11 71.45 68.34 NDUFA12 93.60 98.61 NDUFA13 218.70 99.99 NDUFA2 195.75 100 NDUFA3 107.60 99.91 NDUFA4 70.06 92.82 NDUFA5 100.18 78.51 NDUFA6 191.49 100 NDUFA7 101.83 80.11 NDUFA8 114.36 100 NDUFA9 119.84 99.46 NDUFAB1 105.41 97.72 NDUFAF1 92.41 99.92 NDUFAF2 129.38 74.83 NDUFAF3 171.47 99.76 NDUFAF4 72.75 87.42 NDUFAF5 93.80 99.55 NDUFAF6 99.13 97.17 NDUFAF7 128.43 99.96 NDUFB1 80.10 90.78 NDUFB10 138.92 97.61 NDUFB11 134.35 99.65 NDUFB2 111.41 99.72 NDUFB3 79.56 99.81 NDUFB4 163.97 100 NDUFB5 112.89 100 NDUFB6 93.76 99.90 NDUFB7 75.92 98.99 NDUFB8 134.55 100 NDUFB9 199.79 100

NDUFC1 113.15 93.71 NDUFC2 75.90 98.65 NDUFS1 103.01 99.54 NDUFS2 164.41 99.97 NDUFS3 150.27 90.68 NDUFS4 105.38 90.96 NDUFS5 143.20 100 NDUFS6 108.27 99.94 NDUFS7 80.50 87.75 NDUFS8 103.59 96.41 NDUFV1 160.80 99.81 NDUFV2 73.16 90.68 NDUFV3 107.36 91.06 NEB 117.54 98.33 NEBL 92.67 99.00 NECAP1 167.37 100 NEDD4L 122.53 99.65 NEFH 191.05 97.87 NEFL 97.27 100 NEK1 81.65 95.62 NEK2 98.24 94.50 NEK8 151.33 100 NEK9 110.88 99.99 NEU1 166.34 99.94 NEUROD1 113.89 100 NEUROG3 56.68 98.56 NEXN 60.57 88.65 NF1 92.21 91.69 NFATC1 156.61 90.49 NFE2L2 93.88 95.28 NFIA 98.89 77.80 NFIX 157.98 90.13 NFKB1 106.98 99.34 NFKB2 142.22 99.09 NFKBIA 129.72 95.48 NFKBIL1 113.61 99.97 NFS1 113.39 89.33 NFU1 73.80 88.44 NGF 42.78 93.97 NGLY1 88.78 98.59 NHEJ1 122.31 99.97 NHLRC1 133.94 99.87 NHP2 137.25 100 NHS 113.74 99.46 NID1 157.57 100 NIN 107.86 94.34 NIPA1 143.44 99.96 NIPAL4 101.12 85.25 NIPBL 81.88 97.30 NKX2-1 102.78 100

NKX2-5 132.87 100 NKX2-6 84.58 95.74 NKX3-2 113.44 99.94 NLGN3 152.17 99.96 NLGN4X 158.55 99.63 NLRC4 111.14 99.82 NLRP1 144.33 99.96 NLRP12 147.68 91.45 NLRP3 174.71 100 NLRP7 140.33 99.80 NME1 117.09 100 NME1 117.09 100 NME8 91.97 98.45 NMNAT1 106.92 99.24 NNT 118.18 95.77 NOBOX 124.98 98.90 NOD2 135.41 99.91 NODAL 156.68 99.83 NOG 204.81 100 NOL3 125.94 100 NONO 103.38 98.56 NOP10 202.05 100 NOP56 163.61 95.97 NOS2 158.12 99.80 NOS3 121.42 97.43 NOTCH1 133.82 99.79 NOTCH2 166.29 99.96 NPAT 91.73 97.32 NPC1 137.47 99.99 NPC1L1 143.07 99.88 NPC2 135.39 99.98 NPHP1 95.63 96.61 NPHP3 95.31 98.77 NPHP4 152.18 99.98 NPHS1 143.57 99.95 NPHS2 138.66 99.94 NPHS2 138.66 99.94 NPM1 68.17 90.43 NPPA 157.61 100 NPR2 165.30 99.99 NPR2 165.30 99.99 NPRL2 211.26 100 NPRL3 133.03 99.83 NPSR1 105.09 96.35 NQO1 111.14 99.96 NR0B1 114.02 99.96 NR0B1 114.02 99.96 NR0B2 132.75 100 NR1D2 107.16 90.17 NR1H4 114.10 99.09

NR2E3 120.62 99.92 NR2F1 179.74 100 NR2F2 223.81 99.44 NR3C1 105.28 99.58 NR3C2 124.31 99.97 NR4A2 152.40 100 NR4A3 111.02 98.52 NR5A1 122.69 99.64 NRAS 107.46 99.97 NRG1 122.16 99.66 NRIP1 66.15 97.25 NRL 97.36 100 NRP1 131.18 99.88 NRXN1 110.92 98.12 NSD1 121.52 99.49 NSDHL 151.84 99.96 NSMCE2 103.31 98.05 NSMCE3 NSMF 131.20 98.25 NSUN2 109.87 99.11 NSUN3 144.94 100 NT5C2 92.11 96.75 NT5C3A 82.39 96.31 NT5E 128.46 99.97 NTF4 121.45 87.34 NTRK1 129.53 99.68 NTRK2 142.06 99.93 NUB1 111.40 99.04 NUBPL 107.71 96.45 NUDT15 95.96 99.69 NUMA1 127.28 99.55 NUP107 97.42 98.69 NUP155 104.00 97.23 NUP188 147.16 99.72 NUP205 116.87 95.61 NUP214 115.06 99.91 NUP62 263.89 100 NUP93 140.33 98.43 NUS1 73.78 92.50 NXF5 132.48 93.56 NYX 104.40 99.94 OAS1 114.27 99.97 OAT 96.07 96.14 OBFC1 113.60 99.85 OBSL1 156.47 99.77 OCA2 141.35 99.84 OCLN 137.30 96.62 OCRL 100.04 97.16 ODAM 71.16 92.96 ODC1 145.55 100

OFD1 69.17 85.45 OGDH 193.78 100 OGG1 143.67 100 OGT 111.23 95.56 OLR1 103.22 100 OPA1 84.55 98.84 OPA3 174.13 100 OPCML 174.83 99.97 OPHN1 105.27 99.50 OPLAH 142.94 99.83 OPN1LW 134.36 78.48 OPN1MW 160.47 80.24 OPN1SW 161.13 100 OPTN 111.69 96.06 OR2J3 216.81 100 ORAI1 99.89 95.34 ORC1 136.12 99.99 ORC4 74.42 98.30 ORC6 108.25 99.94 OSBPL2 149.42 99.97 OSGEP 114.45 91.94 OSMR 117.12 99.98 OSTM1 80.47 97.38 OTC 108.08 99.70 OTOA 136.47 98.59 OTOF 156.79 99.94 OTOG 149.69 99.70 OTOGL 98.83 97.02 OTUD4 69.93 92.22 OTUD6B 111.87 99.23 OTULIN 98.49 94.14 OTX2 181.98 99.26 OVOL2 129.44 99.67 OXA1L 178.05 100 OXCT1 101.23 99.07 P2RX1 161.60 99.99 P2RX2 117.74 97.33 P2RY12 59.08 98.17 P4HA2 153.04 100 P4HB 148.73 99.97 PABPN1 100.50 89.64 PACS1 153.14 96.62 PACS2 167.25 96.15 PADI3 162.06 99.98 PADI4 102.11 65.57 PADI6 175.04 100 PAFAH1B1 74.77 85.73 PAH 141.28 99.79 PAK3 89.08 98.21 PALLD 104.96 99.78

PAM16 131.28 87.18 PANK2 135.63 99.98 PANX1 113.30 99.92 PAPSS2 115.33 99.75 PARK2 132.80 100 PARK7 87.69 98.62 PARK7 87.69 98.62 PARN 97.22 95.74 PARS2 185.14 100 PAX1 100.77 85.45 PAX2 180.61 98.21 PAX3 118.69 99.98 PAX4 127.84 99.89 PAX6 141.88 99.90 PAX7 127.90 99.27 PAX8 111.07 99.83 PAX9 90.12 73.03 PBRM1 104.76 99.33 PBX1 124.48 99.83 PC 169.41 99.91 PCBD1 161.32 100 PCCA 99.53 96.58 PCCB 133.77 97.59 PCDH15 99.62 94.84 PCDH19 129.96 99.63 PCGF2 147.34 90.18 PCLO 107.40 98.00 PCNA 96.14 99.58 PCNT 132.68 99.40 PCSK1 107.03 99.95 PCSK9 114.54 92.96 PCYT1A 116.89 99.96 PDCD1 103.89 99.45 PDCD10 73.14 97.46 PDE10A 104.51 99.82 PDE11A 108.06 98.01 PDE3A 106.20 99.41 PDE4D 102.70 98.08 PDE6A 132.98 99.95 PDE6B 176.41 99.99 PDE6C 123.85 99.80 PDE6D 106.85 93.89 PDE6G 153.92 99.97 PDE6H 94.17 99.56 PDE8B 117.87 99.58 PDGFB 106.78 96.20 PDGFRB 181.55 99.37 PDGFRL 138.54 98.89 PDHA1 99.44 90.79 PDHB 89.48 99.05

PDHX 103.59 97.14 PDIA2 112.42 96.06 PDK1 100.50 99.83 PDK2 162.19 100 PDK3 93.04 97.29 PDK4 85.79 90.60 PDLIM3 147.68 99.75 PDLIM4 145.93 99.83 PDP1 106.11 98.95 PDSS1 84.02 86.35 PDSS2 106.99 97.33 PDX1 150.35 100 PDYN 182.40 100 PDZD7 119.74 99.85 PEPD 128.69 88.47 PER2 132.38 99.74 PER3 119.82 99.53 PERP 153.20 100 PET100 201.53 99.50 PET112 135.39 99.92 PET117 92.98 99.47 PEX1 94.67 97.22 PEX10 130.53 99.38 PEX11B 113.84 99.92 PEX12 142.07 100 PEX13 100.92 99.48 PEX14 136.79 99.99 PEX14 136.79 99.99 PEX16 139.28 94.69 PEX19 154.52 99.99 PEX2 116.17 100 PEX26 135.70 88.62 PEX3 94.64 99.83 PEX5 141.27 99.49 PEX6 142.95 99.85 PEX7 102.84 88.40 PFKM 151.05 98.81 PFN1 127.25 99.97 PGAM2 180.56 100 PGAP1 67.42 92.48 PGAP2 161.48 100 PGAP3 172.97 89.14 PGK1 98.66 98.76 PGM1 128.77 98.20 PGM3 112.24 99.83 PHB 111.25 97.25 PHC1 194.22 100 PHEX 106.67 96.93 PHF11 89.27 98.65 PHF6 77.86 97.03

PHF8 110.35 99.61 PHGDH 146.76 99.98 PHIP 88.04 93.88 PHKA1 94.61 98.27 PHKA2 111.35 99.74 PHKB 105.66 90.95 PHKG2 168.18 99.88 PHOX2A 80.07 99.26 PHOX2B 155.15 99.38 PHYH 89.11 97.86 PHYKPL 200.47 99.99 PI4KA 157.62 97.38 PIBF1 68.69 94.42 PICALM 93.02 99.48 PIEZO1 134.30 98.54 PIEZO2 111.43 97.92 PIFO 123.40 100 PIGA 74.37 92.18 PIGC 60.85 99.48 PIGG 127.29 99.92 PIGL 134.52 80.22 PIGM 122.89 100 PIGN 66.81 86.75 PIGO 166.82 100 PIGT 157.15 99.99 PIGV 213.56 100 PIGW 113.55 100 PIGY 45.51 97.25 PIH1D3 80.09 96.29 PIK3CA 100.89 99.48 PIK3CD 155.37 99.71 PIK3R1 97.60 99.59 PIK3R2 127.63 93.42 PIK3R5 141.23 99.94 PIKFYVE 114.22 97.05 PINK1 117.16 93.56 PIP5K1C 129.54 99.64 PITPNM3 115.89 94.94 PITRM1 129.95 99.63 PITX1 132.71 100 PITX2 156.05 99.97 PITX3 110.40 97.99 PKD1 52.44 52.56 PKD1L1 127.84 99.86 PKD2 121.55 99.04 PKHD1 118.56 99.51 PKHD1 118.56 99.51 PKLR 196.01 100 PKP1 144.74 99.96 PKP2 120.88 98.18

PLA2G2A 142.59 99.74 PLA2G4A 107.51 98.34 PLA2G5 188.02 100 PLA2G6 115.22 97.72 PLA2G7 118.22 98.71 PLAG1 222.14 99.87 PLAGL1 145.70 100 PLAU 166.67 99.62 PLCB1 109.60 99.57 PLCB4 109.12 99.71 PLCD1 147.75 99.86 PLCE1 125.95 96.76 PLCG2 146.57 99.94 PLCZ1 71.75 96.78 PLD1 123.49 99.89 PLD3 160.33 99.99 PLEC 130.95 98.19 PLEKHG2 125.59 97.00 PLEKHG5 93.81 92.12 PLEKHM1 201.94 99.96 PLEKHM2 153.33 98.96 PLG 127.96 99.68 PLIN1 96.96 98.09 PLK4 96.43 99.44 PLN 72.24 99.34 PLOD1 130.19 99.68 PLOD2 77.95 92.06 PLOD3 124.79 99.14 PLP1 99.12 99.68 PLS3 87.22 91.71 PLTP 126.40 98.58 PLVAP 126.44 86.01 PLXND1 133.09 99.35 PML 134.71 99.94 PMM2 137.99 99.97 PMP22 162.13 100 PMPCA 129.12 99.62 PMPCB 104.25 97.67 PMVK 128.32 100 PNKD 116.75 94.07 PNKP 126.85 99.70 PNLIP 102.03 96.68 PNP 139.42 99.66 PNPLA1 139.19 99.95 PNPLA2 100.85 99.58 PNPLA6 128.82 99.42 PNPLA8 80.04 92.76 PNPO 96.61 99.29 PNPT1 61.51 91.06 POC1A 175.35 99.80

POC1B 105.92 93.86 PODXL 112.81 89.94 POF1B 73.40 93.86 POF1B 73.40 93.86 POFUT1 145.13 99.98 POGLUT1 101.26 98.43 POGZ 139.30 98.02 POLA1 98.59 98.19 POLE 167.04 100.00 POLG 148.30 99.90 POLG2 84.17 97.89 POLH 178.65 99.97 POLR1A 122.69 96.82 POLR1C 165.74 99.99 POLR1D 129.62 99.87 POLR3A 139.39 99.99 POLR3B 107.44 99.41 POMC 182.43 100 POMGNT1 171.35 100 POMGNT2 178.91 100 POMK 131.24 99.94 POMP 93.90 97.09 POMT1 155.85 100 POMT2 146.79 99.99 PON1 103.45 99.91 PON2 97.76 99.71 POR 143.81 95.76 PORCN 131.71 99.20 POU1F1 79.11 83.90 POU3F3 100.52 99.61 POU3F4 168.55 100 POU4F3 84.56 51.05 POU6F2 104.16 91.59 PPA2 82.70 94.68 PPARA 142.43 99.63 PPARG 126.18 99.92 PPARGC1B 148.13 98.72 PPIB 140.15 100 PPL 126.61 99.82 PPM1D 116.51 86.99 PPM1K 149.96 99.68 PPOX 153.90 100 PPP1CB 107.01 99.84 PPP1R15B 144.50 100 PPP1R17 94.77 99.81 PPP1R3A 75.75 88.86 PPP2CA 91.03 99.93 PPP2R1A 148.96 94.24 PPP2R1B 126.08 99.93 PPP2R2B 115.33 94.36

PPP2R5B 150.53 99.87 PPP2R5C 101.57 91.65 PPP2R5D 157.82 99.74 PPP3CA 101.32 99.19 PPT1 118.71 99.80 PQBP1 161.36 99.70 PRCC 129.56 99.90 PRCD 64.95 99.00 PRDM1 136.21 99.99 PRDM12 145.20 99.87 PRDM16 123.26 89.58 PRDM5 90.98 97.01 PRDM6 141.51 99.16 PRDM8 109.88 99.87 PREPL 97.78 93.37 PRF1 112.31 99.94 PRG4 126.81 99.02 PRICKLE1 122.16 99.98 PRICKLE2 148.31 99.62 PRIMPOL 69.72 93.19 PRKAA1 104.97 99.45 PRKACA 148.99 99.73 PRKACG 219.55 100 PRKAG2 115.18 90.62 PRKAG3 142.47 99.95 PRKCA 144.39 94.85 PRKCD 182.98 100 PRKCG 167.61 99.88 PRKCH 150.98 99.99 PRKCSH 142.47 98.74 PRKD1 100.36 93.07 PRKDC 106.29 98.84 PRKG1 118.64 99.43 PRKRA 150.17 99.94 PRLR 123.03 89.96 PRMT7 141.49 99.97 PRNP 148.76 100 PROC 112.37 98.89 PRODH 148.34 94.25 PROK2 114.06 99.97 PROKR2 258.02 100 PROM1 98.10 95.61 PROP1 187.26 99.26 PROS1 55.64 89.94 PROSC 125.88 96.33 PROX1 119.30 99.81 PROZ 117.56 98.66 PRPF3 118.70 99.96 PRPF31 108.97 96.24 PRPF4 115.83 99.12

PRPF6 150.42 95.59 PRPF8 174.02 99.99 PRPH 149.47 99.85 PRPH2 194.19 100 PRPS1 108.93 99.63 PRR12 115.58 98.31 PRRT2 73.67 50 PRRX1 105.08 99.90 PRSS1 159.15 99.91 PRSS12 122.00 99.98 PRSS56 95.90 98.96 PRX 162.12 99.77 PSAP 132.01 99.99 PSAT1 80.75 98.63 PSENEN 135.40 99.83 PSMA3 112.78 99.49 PSMA6 76.99 89.63 PSMB4 136.75 100 PSMB8 153.06 100 PSMB9 113.52 85.95 PSMC3IP 138.74 99.88 PSMD12 56.13 83.33 PSPH 93.82 99.87 PSTPIP1 136.99 99.91 PTCH1 122.27 99.13 PTCH2 151.49 99.89 PTCHD1 148.40 100 PTDSS1 131.26 100 PTEN 75.77 84.56 PTF1A 164.99 100 PTGDR 183.49 100 PTGER2 143.28 100 PTGIS 154.29 99.94 PTH 103.75 99.61 PTH1R 137.62 97.81 PTHLH 130.87 98.16 PTPN1 114.98 99.94 PTPN11 71.11 87.81 PTPN12 80.54 97.19 PTPN14 131.14 99.93 PTPN22 88.27 95.96 PTPRC 79.43 95.42 PTPRF 173.99 99.44 PTPRJ 121.44 96.00 PTPRO 112.88 99.71 PTPRQ 85.15 88.21 PTRF 79.76 51.12 PTRH2 146.78 100 PTRHD1 136.76 100 PTS 120.71 99.96

PUF60 152.62 96.54 PUM1 122.61 95.63 PURA 128.98 100 PUS1 92.35 97.55 PUS3 140.71 99.87 PUS7 92.27 97.84 PVRL1 156.70 99.91 PVRL4 141.26 100 PXDN 149.70 99.94 PYCR1 133.79 98.34 PYCR2 161.09 99.84 PYGL 132.79 99.99 PYGM 147.70 99.92 PYROXD1 51.30 76.75 QARS 190.85 99.91 QDPR 130.70 99.97 QRICH1 160.84 99.99 QRSL1 82.83 96.74 RAB10 80.59 98.95 RAB11B 133.92 80.42 RAB18 85.05 96.75 RAB23 91.27 99.76 RAB27A 126.51 99.87 RAB28 91.66 93.66 RAB33B 155.35 100 RAB39B 124.67 99.94 RAB3GAP1 106.36 96.17 RAB3GAP2 97.59 99.04 RAB40AL 265.07 100 RAB7A 109.13 99.97 RAC1 84.66 83.60 RAC2 107.36 93.30 RAD21 76.70 96.48 RAD50 71.92 97.17 RAD51 134.31 90 RAD51B 108.58 99.55 RAD54B 92.66 98.80 RAD54L 143.67 99.93 RAF1 143.42 99.79 RAG1 140.23 98.36 RAG2 81.18 99.48 RAI1 117.92 98.64 RANBP2 123.94 97.08 RANGRF 114.94 100 RAP1GDS1 107.88 93.30 RAPSN 130.93 94.99 RARB 113.73 99.80 RARS 107.68 95.41 RARS2 90.35 94.93 RASA1 78.05 97.02

RASGRP2 128.56 99.85 RAX 145.04 99.74 RAX2 44.88 51.12 RB1 64.90 88.77 RB1CC1 81.19 96.96 RBBP8 80.57 92.47 RBCK1 110.51 95.97 RBFOX1 122.09 92.21 RBFOX2 88.58 93.96 RBM10 110.13 92.40 RBM20 144.87 90.41 RBM28 126.04 99.86 RBM8A 135.51 100 RBMX 49.77 79.37 RBP3 150.97 100 RBP4 153.04 100 RBPJ 92.53 99.47 RCBTB1 113.93 99.63 RD3 127.73 99.94 RDH11 111.75 89.14 RDH12 131.12 98.02 RDH5 195.58 100 RDX 55.49 78.40 RECQL4 157.99 99.56 REEP1 101.02 88.80 REEP2 163.26 93.42 REEP6 147.88 99.17 RELN 123.87 99.73 REN 185.13 100 RERE 108.09 99.45 REST 101.68 99.78 RET 125.22 99.80 RETN 88.87 89.65 REV3L 93.00 98.86 RFT1 105.27 91.43 RFX5 137.08 91.34 RFX6 95.26 98.70 RFXANK 135.94 99.12 RFXAP 118.86 100 RGR 105.43 99.53 RGS9 131.56 99.75 RGS9BP 108.03 100 RHAG 123.50 99.80 RHBDF2 131.25 96.35 RHCE 216.10 98.11 RHD 142.80 87.38 RHEB 66.12 91.83 RHO 164.50 100 RHOBTB2 175.06 96.60 RHOH 43.20 94.23

RIMS1 113.79 94.81 RIN2 112.68 91.64 RIPK1 113.83 99.72 RIPK4 158.65 90.72 RIPPLY2 156.15 99.70 RIT1 117.62 99.78 RLBP1 187.31 100 RLIM 95.31 99.87 RLTPR 131.10 96.95 RMND1 85.71 98.69 RNASEH1 76.81 97.25 RNASEH2A 212.71 100 RNASEH2B 85.81 91.51 RNASEH2C 236.06 100 RNASEL 110.62 99.89 RNASET2 93.70 94.25 RNF113A 177.53 100 RNF125 138.07 99.94 RNF135 100.28 85.43 RNF139 226.12 100 RNF168 91.78 99.23 RNF170 106.23 99.57 RNF212 103.01 96.27 RNF213 159.27 99.96 RNF216 116.33 94.58 RNF31 155.80 99.99 RNF6 112.01 99.39 RNU4ATAC ROBO1 135.35 99.83 ROBO2 112.98 96.74 ROBO3 109.53 99.58 ROBO4 133.35 99.65 ROCK2 65.98 96.34 ROGDI 118.94 99.59 ROM1 65.61 88.73 ROR2 148.66 99.99 RORA 105.37 95.04 RORC 142.01 99.73 RP1 122 99.91 RP1L1 123.24 100 RP2 142.21 99.84 RP9 95.58 99.06 RPE65 127.60 99.86 RPGR 79.47 92.03 RPGRIP1 127.43 99.45 RPGRIP1L 80.34 94.44 RPIA 122.38 99.49 RPL10 125.52 99.94 RPL11 117.72 98.71 RPL15 99.24 100

RPL21 50.27 69.49 RPL26 27.89 46.95 RPL35A 115.26 99.84 RPL5 92.47 99.84 RPS10 88.85 99.82 RPS14 152.06 99.92 RPS15 109.02 76.90 RPS17 61.59 87.73 RPS19 70.25 72.48 RPS24 121.19 99.87 RPS26 119.79 99.94 RPS28 64.69 95.81 RPS29 115.06 99.87 RPS6KA3 70.51 91.98 RPS7 60.04 67.74 RPSA 140.84 99.64 RRAS2 59.93 85.74 RREB1 150.94 99.99 RRM2B 110.18 91.48 RS1 95.20 99.50 RSPH1 114.25 99.97 RSPH3 111.17 96.46 RSPH4A 117.10 100 RSPH9 174.06 99.98 RSPO1 143.13 99.98 RSPO4 150.02 99.24 RSPRY1 122.02 98.93 RTEL1 142.69 95.46 RTN2 155.35 100 RTN4IP1 105.33 99.59 RTN4R 80.95 99.70 RTTN 107.87 98.57 RUNX2 94.37 90.54 RUSC2 183.84 100 RXFP2 88.69 98.28 RYR1 135.97 98.60 RYR2 115.21 99.11 S1PR2 5.79 2.23 SACS 100.04 99.83 SAG 140.28 99.82 SALL1 130.71 67.41 SALL2 115.94 81.36 SALL4 177.69 95.51 SAMD9 124.01 100 SAMD9L 115.83 100 SAMHD1 99.94 99.79 SAR1B 96.35 89.95 SARDH 152.50 94.09 SARS2 112.28 95.13 SART3 122.77 98.77

SASH1 137.80 98.03 SASS6 70.58 91.06 SATB2 121.97 99.43 SBDS 122.27 99.97 SBF1 115.18 99.68 SBF2 107.19 99.41 SC5D 102.90 99.61 SCAPER 99.09 98.61 SCARB1 175.65 96.08 SCARB2 112.14 99.80 SCARF2 138.26 98.64 SCGB3A2 104.23 99.56 SCN10A 150.71 99.92 SCN11A 115.67 99.59 SCN1A 85.73 97.52 SCN1B 177.71 81.18 SCN2A 99.39 95.31 SCN2B 179.92 99.90 SCN3B 171.76 100 SCN4A 176.10 99.92 SCN4B 106.53 99.87 SCN5A 159.82 99.92 SCN8A 121.94 99.94 SCN9A 88.35 98.64 SCNN1A 120.37 93.16 SCNN1B 154.94 99.99 SCNN1G 148.12 99.80 SCO1 110.30 100 SCO2 169.66 100 SCP2 109.30 98.09 SCYL1 153.73 99.53 SDC3 122.62 99.95 SDCCAG8 91.65 91.74 SDHAF1 141.62 100 SDHB 119.05 98.34 SDR9C7 164.82 100 SEC23A 105.77 98.54 SEC23B 116.22 99.84 SEC24C 149.96 99.65 SEC24D 108.67 99.55 SEC61A1 113.15 92.48 SEC63 64.63 93.31 SECISBP2 111.39 95.08 SELP 118.14 99.36 SEMA3A 118.04 99.85 SEMA3D 88.65 97.11 SEMA3E 88.60 92.23 SEMA4A 118.28 98.69 SEMA7A 177.73 100 SEPN1 104.05 91.24

SEPSECS 72.35 99.74 SERAC1 97.06 99.40 SERPINA1 173.00 100 SERPINA3 134.67 80 SERPINA6 168.54 100 SERPINA7 112.32 97.54 SERPINB6 116.95 99.94 SERPINB7 123.13 99.76 SERPINB8 117.86 99.96 SERPINC1 163.04 100 SERPIND1 167.59 100 SERPINE1 158.13 87.50 SERPINF1 120.71 98.92 SERPINF2 124.12 95.18 SERPING1 110.73 88.37 SERPINH1 133.39 99.38 SERPINI1 101.29 99.53 SESN1 103.30 99.26 SET 77.76 74.51 SETBP1 149.96 100 SETD1A 148.42 99.96 SETD1B 171.95 99.98 SETD2 99.46 96.43 SETD5 126.28 99.99 SETX 103.97 99.30 SF1 114.73 94.36 SF3B1 95.63 99.66 SF3B4 104.05 99.96 SFRP4 93.92 99.64 SFTPA1 235.02 100 SFTPA2 227.95 99.97 SFTPB 143.82 99.95 SFTPC 156.11 100 SFXN4 122.86 99.86 SGCA 111.37 93.17 SGCB 112.40 99.85 SGCD 105.27 99.28 SGCE 80.04 93.08 SGCG 113.36 100 SGOL1 78.35 98.18 SGSH 138.86 96.42 SH2B1 131.26 99.99 SH2B3 127.95 88.44 SH2D1A 110.81 98.07 SH3BP2 121.78 87.90 SH3PXD2B 126.61 99.13 SH3TC2 124.14 98.97 SHANK2 132.45 99.06 SHANK3 126.90 84.53 SHH 117.82 100

SHOC2 75.22 99.70 SHOX 71.24 90.66 SHOX 71.24 90.66 SHPK 148.91 98.48 SHROOM3 154.97 99.65 SHROOM4 119.73 99.50 SI 82.58 95.77 SIAE 137.53 99.97 SIGMAR1 185.44 100 SIK1 134.30 99.89 SIL1 117.58 99.94 SIM1 166.18 99.88 SIN3A 107.03 99.95 SIPA1L3 113.42 87.41 SIX1 107.62 75 SIX2 137.11 99.67 SIX3 114.83 99.22 SIX5 101.05 98.82 SIX6 131.48 91.42 SKI 123.99 99.66 SKIV2L 184.22 100 SLC10A2 96.79 99.45 SLC10A7 98.24 97.67 SLC11A1 127.28 99.96 SLC11A2 107.31 94.94 SLC12A1 114.02 99.05 SLC12A3 132.53 99.89 SLC12A5 150.21 97.69 SLC12A6 114.85 99.97 SLC13A5 147.30 92.86 SLC14A1 125.97 100 SLC16A1 145.32 100 SLC16A12 140.60 100 SLC16A2 108.68 99.76 SLC16A2 108.68 99.76 SLC17A3 142.08 99.86 SLC17A5 104.75 98.25 SLC17A8 152.02 100 SLC17A9 134.96 92.72 SLC18A3 174.64 100 SLC19A2 89.38 94.89 SLC19A3 113.43 99.48 SLC1A1 139.34 100 SLC1A2 134.23 99.84 SLC1A3 127.76 99.58 SLC1A4 129.99 100 SLC20A1 119.12 99.99 SLC20A2 113.24 97.90 SLC22A12 117.68 99.77 SLC22A18 100.52 94.69

SLC22A4 157.13 99.95 SLC22A5 178.07 99.89 SLC24A1 146.33 96.68 SLC24A4 133.86 94.97 SLC24A5 126.51 99.64 SLC25A1 90.13 88.77 SLC25A10 99.00 89.03 SLC25A12 109.03 94.85 SLC25A13 101.61 98.92 SLC25A15 141.87 92.59 SLC25A19 119.87 85.96 SLC25A20 137.74 99.97 SLC25A21 98.45 99.67 SLC25A22 110.85 99.87 SLC25A24 106.00 97.89 SLC25A26 100.14 98.13 SLC25A3 129.28 99.74 SLC25A32 88.43 99.91 SLC25A38 129.19 99.97 SLC25A4 128.91 99.24 SLC25A42 155.97 99.98 SLC25A46 93.51 97.74 SLC26A1 111.19 97.73 SLC26A2 178.31 100 SLC26A3 110.00 99.76 SLC26A4 116.39 99.65 SLC26A5 112.85 99.91 SLC26A8 115.33 98.64 SLC27A4 138.90 97.99 SLC27A5 161.68 99.96 SLC29A3 139.53 87.14 SLC2A1 199.18 100 SLC2A10 120.47 95.75 SLC2A2 119.68 98.87 SLC2A9 138.26 98.07 SLC30A10 152.35 99.64 SLC30A2 169.00 100 SLC30A8 130.87 99.26 SLC33A1 94.07 99.08 SLC34A1 129.91 99.76 SLC34A2 140.25 99.98 SLC34A3 115.99 88.72 SLC35A1 101.46 99.49 SLC35A2 132.18 93.41 SLC35A3 80.48 98.46 SLC35C1 97.84 98.82 SLC35D1 76.11 97.68 SLC36A2 159.20 99.80 SLC37A4 156.42 99.81 SLC38A8 98.49 94.02

SLC39A12 108.47 99.88 SLC39A13 102.01 99.91 SLC39A14 145.41 99.93 SLC39A4 140.39 99.92 SLC39A5 115.68 94.46 SLC39A8 93.12 90.54 SLC3A1 108.02 93.27 SLC40A1 120.22 99.89 SLC41A1 133.64 100 SLC45A2 148.60 99.62 SLC46A1 145.06 100 SLC4A1 156.56 99.99 SLC4A10 113.40 99.40 SLC4A11 160.49 99.96 SLC4A4 118.18 98.79 SLC52A1 175.44 100 SLC52A2 117.48 99.61 SLC52A3 100.84 98.56 SLC5A1 132.71 100 SLC5A2 132.03 99.95 SLC5A5 118.62 99.14 SLC5A7 122.90 94.94 SLC6A1 135.81 99.91 SLC6A14 73.76 87.09 SLC6A17 152.41 97.69 SLC6A19 124.86 95.13 SLC6A2 133.33 99.62 SLC6A20 175.49 100 SLC6A3 158.70 99.83 SLC6A4 138.83 99.97 SLC6A5 133.71 99.97 SLC6A8 105.75 90.24 SLC6A9 148.66 100 SLC7A14 156.19 100 SLC7A7 119.65 100 SLC7A9 147.53 100 SLC9A1 160.59 99.98 SLC9A3 159.59 96.14 SLC9A3R1 154.95 99.98 SLC9A6 99.01 96.99 SLC9A9 113.85 99.35 SLCO1B1 51.96 88.12 SLCO1B3 55.01 90.37 SLCO2A1 155.66 99.98 SLFN14 147.35 100 SLITRK1 186.91 100 SLITRK6 200.03 100 SLMAP 96.57 98.48 SLURP1 125.40 99.52 SLURP2

SLX4 132.74 100 SMAD1 115.79 99.80 SMAD2 111.84 99.65 SMAD3 157.51 99.80 SMAD4 98.55 96.60 SMAD6 105.25 97.99 SMAD7 161.84 100 SMAD9 117.50 99.98 SMARCA2 122.34 99.61 SMARCA4 168.00 99.73 SMARCAD1 97.27 99.26 SMARCAL1 140.67 100 SMARCB1 206.95 100 SMARCC2 116.89 99.32 SMARCE1 74.24 83.94 SMC1A 125.86 99.64 SMC3 75.22 97.79 SMCHD1 81.41 94.84 SMG9 162.50 99.99 SMIM1 102.02 100 SMN1 64.45 95.98 SMN2 62.68 94.69 SMO 170.28 99.27 SMOC1 129.20 99.40 SMOC2 101.73 90.07 SMPD1 132.95 100 SMPX 90.43 99.35 SMS 45.60 72.15 SNAI2 140.85 100 SNAP25 136.98 99.82 SNAP29 143.99 99.34 SNCA 112.53 99.92 SNCAIP 113.66 99.75 SNCB 126.03 100 SNIP1 131.03 99.70 SNORA2C SNORD118 SNRNP200 157.98 99.93 SNRPB 144.17 99.99 SNRPE 107.66 98.74 SNRPN 135.70 94.99 SNTA1 154.95 99.51 SNX10 125.72 99.93 SNX14 68.12 93.25 SOBP 109.64 99.91 SOCS4 74.06 100 SOD1 159.06 100 SOD2 129.43 99.25 SOD3 157.60 100 SOHLH1 128.72 99.75

SON 96.82 92.72 SORL1 147.17 99.98 SORT1 111.21 98.32 SOS1 81.78 97.27 SOS2 96.20 97.33 SOST 137.69 99.87 SOX10 76.33 99.25 SOX11 121.62 100 SOX17 126.38 100 SOX18 123.46 99.87 SOX2 151.46 100 SOX3 88.26 99.74 SOX5 107.51 98.28 SOX9 80.82 66.67 SP110 125.53 99.66 SP7 185.99 100 SPAG1 88.95 98.96 SPARC 177.85 100 SPART SPAST 80.63 98.69 SPATA16 83.36 99.48 SPATA5 135.24 99.86 SPATA7 83.90 87.08 SPECC1L 104.82 98.86 SPEG 146.31 97.14 SPG11 107.80 97.32 SPG21 101.68 89.81 SPG21 101.68 89.81 SPG7 145.00 93.88 SPINK1 95.47 99.97 SPINK5 113.89 98.99 SPINT2 91.88 99.12 SPOCK1 110.03 99.72 SPR 113.34 98.04 SPRED1 123.96 99.83 SPRTN 134.86 97.51 SPRY2 55.85 97.25 SPRY4 94.05 99.90 SPTA1 111.07 99.25 SPTAN1 148.62 99.98 SPTB 145.86 99.95 SPTBN2 137.71 99.74 SPTLC1 94.84 95.57 SPTLC2 107.78 99.85 SQSTM1 163.51 94.96 SRC 137.77 92.00 SRCAP 148.95 99.90 SRD5A2 105.85 99.92 SRD5A3 130.49 99.84 SRGAP1 128.50 99.82

SRP72 77.18 98.33 SRPX2 110.48 99.86 SRY 80.82 52.69 SSR4 129.36 99.97 SSTR5 76.68 85.98 SSX1 86.44 98.14 SSX2 105.49 90.84 ST14 129.93 98.74 ST3GAL3 153.90 100 ST3GAL5 135.23 99.61 STAC3 159.63 100 STAG1 91.54 98.52 STAG3 155.17 99.92 STAMBP 136.26 99.84 STAP1 99.21 99.87 STAR 178.07 100 STAT1 98.16 98.58 STAT2 167.34 99.98 STAT3 126.27 99.91 STAT4 101.06 96.17 STAT5B 149.66 99.91 STAT6 147.56 99.98 STEAP3 205.41 100 STIL 118.38 99.49 STIM1 159.18 99.12 STK4 114.77 99.90 STOX1 78.06 74.15 STRA6 132.64 99.95 STRADA 129.48 91.72 STRC 230.34 99.99 STS 132.50 99.65 STT3A 128.39 99.99 STT3B 109.27 99.14 STUB1 199.06 99.36 STX11 199.14 100 STX16 98.60 86.68 STX1B 137.07 99.21 STX3 145.32 99.92 STXBP1 134.01 99.98 STXBP2 120.53 93.16 SUCLA2 62.98 90.48 SUCLG1 99.50 99.19 SUCLG2 71.74 86.28 SUFU 166.53 100 SUGCT 116.39 94.50 SULF1 116.58 99.88 SULT2B1 95.92 99.76 SUMF1 121.52 99.62 SUMO1 36.81 69.76 SUMO4 96.13 100

SUN5 151.29 99.99 SUOX 108.79 99.96 SURF1 168.35 89.17 SUV420H1 84.78 87.13 SYCE1 137.30 99.93 SYCP3 56.23 89.24 SYN1 125.24 95.42 SYN2 158.91 99.20 SYNCRIP 74.13 91.54 SYNE1 110.84 99.64 SYNE2 111.69 99.57 SYNE4 93.87 98.93 SYNGAP1 130.30 95.09 SYNJ1 93.94 99.03 SYP 103.92 98.19 SYT1 111.79 99.42 SYT14 84.42 82.20 SYT2 147.41 100 SZT2 164.09 99.02 TAB2 104.17 85.37 TAC3 170.06 100 TACO1 144.08 100 TACR3 113.80 99.05 TACSTD2 119.78 100 TAF1 99.19 98.08 TAF13 76.56 98.33 TAF2 84.04 95.34 TAF4B 91.92 97.31 TAF6 146.65 99.81 TAL1 99.20 99.69 TAL2 161.65 100 TALDO1 143.05 92.37 TANC2 126.28 96.18 TANGO2 145.46 100 TAP1 134.75 99.98 TAP2 112.78 99.70 TAPBP 121.73 88.45 TAPT1 78.25 98.72 TARDBP 79.12 75.23 TARS2 149.61 100 TAS2R16 141.16 100 TAS2R38 73.09 98.95 TAT 149.42 100 TAZ 148.10 99.79 TBC1D20 185.60 100 TBC1D23 103.19 98.20 TBC1D24 116.38 69.55 TBC1D4 103.39 99.41 TBC1D7 108.08 88.57 TBCD 148.52 92.88

TBCE 109.90 99.95 TBCK 80.23 94.42 TBK1 84.08 96.00 TBL1XR1 66.21 93.96 TBL1Y 51.63 51.68 TBP 108.89 99.44 TBR1 115.33 100 TBX1 122.16 93.80 TBX15 132.48 99.77 TBX18 132.47 99.96 TBX19 136.69 99.94 TBX2 143.50 97.27 TBX20 137.25 97.23 TBX21 127.95 99.96 TBX22 106.81 98.59 TBX3 148.97 99.98 TBX4 117.85 98.80 TBX5 141.48 100 TBX6 134.31 93.45 TBXA2R 116.67 99.91 TBXAS1 125.00 98.45 TBXT TCAP 145.66 100 TCF12 113.43 99.91 TCF20 124.03 99.87 TCF3 84.69 96.75 TCF4 110.49 99.57 TCF7L2 121.21 99.93 TCHH 124.33 100 TCIRG1 105.82 95.85 TCN2 171.57 99.53 TCOF1 130.53 97.90 TCTN1 97.00 92.37 TCTN1 97.00 92.37 TCTN2 122.64 99.90 TCTN3 126.16 100 TDGF1 114.90 83.33 TDP1 113.78 99.74 TDP2 137.94 99.67 TDRD7 105.96 99.46 TEAD1 130.35 99.97 TECPR2 164.62 99.98 TECR 89.82 86.23 TECRL 69.02 90.39 TECTA 163.37 99.98 TEK 133.44 99.85 TELO2 112.98 96.97 TENM1 110.67 99.29 TENM3 141.68 99.58 TENM4 147.45 99.88

TERC 111.87 100 TERF2IP 121.47 99.42 TET2 130.87 99.84 TEX11 74.38 93.19 TF 152.54 99.92 TFAM 98.54 98.75 TFAP2A 136.58 93.96 TFAP2B 141.09 99.95 TFE3 112.66 99.29 TFG 89.01 98.22 TFR2 109.09 96.88 TFRC 102.95 99.92 TG 148.68 99.94 TGDS 83.17 95.83 TGFB1 153.22 99.05 TGFB2 132.15 100 TGFB3 186.42 99.93 TGFBI 162.82 98.39 TGFBR1 109.00 89.78 TGFBR2 161.10 99.62 TGFBR3 113.39 94.39 TGIF1 117.07 99.96 TGM1 198.90 100 TGM3 169.44 100 TGM5 147.08 99.47 TGM6 167.47 99.89 TH 115.08 96.40 THAP1 116.84 99.96 THBD 172.60 100 THBS1 177.74 99.78 THBS2 151.49 99.93 THG1L 135.66 99.96 THOC2 69.35 91.25 THOC6 208.77 97.57 THPO 143.40 99.87 THRA 168.57 89.14 THRB 121.20 99.93 TIA1 95.97 96.32 TICAM1 87.41 100 TIMM44 127.60 99.69 TIMM50 114.52 84.95 TIMM8A 122.88 99.87 TIMMDC1 147.72 99.89 TIMP3 165.76 99.97 TINF2 196.52 100 TIRAP 159.35 100 TJP2 139.06 99.97 TK2 118.31 93.04 TKT 154.47 93.75 TLE6 153.20 97.02

TLK2 81.05 84.43 TLL1 115.10 99.22 TLR1 148.67 100 TLR2 174.75 100 TLR3 100.72 99.31 TLR4 129.96 81.69 TLR5 163.73 100 TM4SF20 96.96 99.11 TMC1 121.51 99.79 TMC6 84.81 97.74 TMC8 111.71 99.90 TMCO1 70.12 88 TMEM107 139.22 83.70 TMEM126A 78.91 99.81 TMEM126B 107.03 99.13 TMEM138 127.31 100 TMEM165 115.01 99.37 TMEM17 115.78 100 TMEM173 148.34 99.52 TMEM186 141.28 100 TMEM199 108.97 85.58 TMEM216 119.50 99.95 TMEM231 140.87 100 TMEM237 109.27 99.81 TMEM240 120.41 99.90 TMEM261 138.09 100 TMEM38B 105.39 99.87 TMEM43 140.94 99.99 TMEM5 112.24 99.38 TMEM65 62.91 95.41 TMEM67 81.65 94.21 TMEM70 67.01 88.66 TMEM98 179.02 100 TMIE 109.86 98.59 TMLHE 102.66 98.76 TMPO 82.09 91.76 TMPRSS15 86.05 94.80 TMPRSS3 159.11 100 TMPRSS6 124.78 99.23 TMTC3 73.49 98.70 TNC 153.57 99.98 TNF 132.31 99.97 TNFAIP3 147.77 100 TNFRSF10B 150.22 99.90 TNFRSF11A 129.40 89.96 TNFRSF11B 122.28 99.94 TNFRSF13B 122.25 86.39 TNFRSF13C 49.38 94.67 TNFRSF1A 137.34 89.96 TNFRSF4 70.37 88.26

TNFSF11 90.76 95.52 TNFSF12 133.42 98.06 TNFSF4 113.82 99.78 TNIK 101.45 99.71 TNNC1 144.14 94.45 TNNI2 91.18 95.35 TNNI3 137.52 93.07 TNNI3K 113.70 96.17 TNNT1 89.19 80.08 TNNT2 118.78 98.87 TNNT3 128.00 91.30 TNPO3 112.64 99.90 TNXB 138.81 98.29 TOE1 190.38 100 TOP1 100.91 97.95 TOP2A 97.74 98.86 TOPORS 136.08 100 TOR1A 153.46 100 TOR1AIP1 99.39 97.15 TOR1AIP2 138.71 99.97 TP53RK 118.62 98.42 TP63 114.47 93.85 TPCN2 146.59 98.10 TPH2 135.74 99.67 TPI1 149.46 99.98 TPK1 103.36 97.42 TPM1 125.00 99.29 TPM2 128.05 99.57 TPM3 109.10 98.64 TPMT 69.03 89.63 TPO 151.57 99.85 TPP1 172.25 95.61 TPP2 110.80 98.71 TPRKB 74.95 55.62 TPRN 218.32 100 TRAF3 140.57 99.98 TRAF3IP1 97.95 94.04 TRAF3IP2 106.52 99.84 TRAF6 86.76 88.03 TRAF7 167.00 95.43 TRAIP 180.62 100 TRAP1 130.72 90.11 TRAPPC11 98.36 95.47 TRAPPC2 62.79 82.78 TRAPPC6B 58.44 88.73 TRAPPC9 138.01 99.63 TRDN 57.47 82.73 TREM2 166.81 100 TREX1 125.20 100 TRH 89.50 95.61

TRHR 144.90 100 TRIM2 148.94 99.99 TRIM32 86.99 100 TRIM37 86.03 92.21 TRIM44 130.61 99.97 TRIO 146.41 98.37 TRIOBP 116.18 94.52 TRIP11 56.08 85.82 TRIP12 96.55 97.32 TRIP4 104.13 99.10 TRIT1 104.13 91.72 TRMT1 98.85 97.96 TRMT10A 85.30 98.88 TRMT10C 92.17 99.87 TRMT5 103.82 98.38 TRMU 140.21 99.74 TRNH TRNI TRNK TRNQ TRNS2 TRNT TRNT1 91.69 86.85 TRPA1 69.09 87.58 TRPC3 113.15 98.59 TRPC4 106.05 99.59 TRPC6 88.28 98.66 TRPM1 133.47 99.65 TRPM2 145.15 98.01 TRPM4 113.99 98.31 TRPM6 117.34 99.58 TRPM7 73.48 93.77 TRPS1 145.31 99.02 TRPV3 137.49 94.77 TRPV4 150.32 99.99 TRRAP 144.92 99.83 TSC1 119.08 100 TSC2 156.19 99.94 TSEN15 90.56 95.67 TSEN2 109.71 99.44 TSEN34 111.12 99.78 TSEN54 127.36 91.36 TSFM 107.60 93.92 TSG101 105.32 99.94 TSHB 100.27 97.70 TSHR 103.81 99.60 TSHZ1 32.35 49.74 TSPAN12 80.95 98.92 TSPAN7 105.77 99.59 TSPEAR 151.09 92.09

TSPYL1 338.63 100 TSR2 127.54 99.74 TTBK2 121.41 99.78 TTC19 87.79 88.35 TTC21B 91.38 99.58 TTC25 163.00 99.99 TTC37 90.91 99.47 TTC7A 153.30 99.70 TTC8 90.27 90.03 TTI2 111.88 100 TTLL5 119.43 99.95 TTN 120.37 98.37 TTPA 100.62 99.97 TTR 166.10 100 TUB 138.16 99.90 TUBA1A 137.31 100 TUBA4A 193.54 100 TUBA8 155.31 88.62 TUBB 115.09 83.32 TUBB1 137.08 79.69 TUBB2A 169.94 100 TUBB2B 143.52 75.89 TUBB3 156.59 90.48 TUBB4A 101.96 67.10 TUBB8 76.06 79.92 TUBG1 153.92 92.41 TUBGCP4 119.07 99.76 TUBGCP6 169 99.95 TUFM 152.19 99.99 TUFT1 126.96 99.85 TULP1 102.97 97.81 TUSC3 109.16 99.62 TWIST1 73.85 100 TWIST2 117.01 100 TXN2 137.95 100 TXNL4A 64.92 59.37 TXNRD2 174.56 99.99 TYK2 130.71 98.32 TYMP 132.81 97.76 TYR 200.27 99.16 TYROBP 141.31 99.90 TYRP1 130.83 98.91 UBA1 146.11 99.84 UBA5 71.60 92.02 UBE2A 105.35 94.78 UBE2T 106.59 99.83 UBE3A 81.27 96.85 UBE3B 152.33 100 UBIAD1 101.46 75 UBQLN2 150.03 100

UBR1 91.10 99.01 UBTF 131.80 99.69 UCHL1 127.89 94.82 UCP1 97.64 98.41 UCP2 175.76 100 UCP3 147.75 100 UFD1L 132.15 99.85 UFSP2 96.53 99.82 UGT1A1 174.63 100 UGT1A4 161.37 100 UGT1A5 167.17 100 UGT2B17 78.82 87.48 UMOD 156.82 99.98 UMPS 146.32 99.27 UNC119 146.00 99.39 UNC13A 162.67 95.32 UNC13D 121.28 97.89 UNC45B 146.83 99.88 UNC80 130.72 99.71 UNC93B1 117.63 79.87 UNG 92.88 84.44 UPB1 202.73 100 UPF3B 65.04 87.06 UPK3A 116.13 80.52 UQCC1 115.45 91.54 UQCC2 118.02 100 UQCR10 158.06 100 UQCR11 102.61 97.97 UQCRB 105.17 96.64 UQCRC1 168.23 99.99 UQCRC2 107.06 99.35 UQCRFS1 141.31 99.67 UQCRH 186.13 99.93 UQCRQ 278.12 100 UROC1 144.51 99.99 UROD 165.00 99.84 UROS 121.94 97.82 USB1 122.70 99.30 USF1 125.18 100 USH1C 168.94 99.99 USH1G 155.17 99.91 USH1G 155.17 99.91 USH2A 122.86 99.49 USP27X 161.98 100 USP7 95.84 98.51 USP9X 74.58 96.37 USP9Y 31.82 49.70 UTP4 UVRAG 102.33 94.92 UVSSA 161.39 99.96

VAC14 153.38 99.66 VAMP1 127.55 100 VANGL1 147.51 99.98 VANGL2 119.04 100 VAPB 110.20 99.89 VARS2 138.07 99.52 VAX1 62.25 95.18 VCAN 136.57 99.93 VCL 133.74 99.96 VCP 159.19 99.99 VDR 142.29 90.86 VEGFA 106.75 99.16 VEGFC 116.81 99.89 VHL 126.87 100 VIL1 172.19 100 VIM 133.57 100 VIPAS39 125.80 99.97 VKORC1 110.96 99.89 VLDLR 135.40 99.74 VMA21 81.28 88.53 VNN1 135.44 99.85 VPS11 167.62 99.99 VPS13A 75.31 97.29 VPS13B 103.92 98.52 VPS13C 80.96 95.76 VPS13D 128.75 98.55 VPS33A 99.52 92.77 VPS33B 148.37 99.93 VPS35 81.20 88.31 VPS37A 49.37 80.73 VPS39 148.93 100.00 VPS45 104.13 98.92 VPS53 128.03 96.02 VRK1 79.81 98.42 VSX1 132.84 99.72 VSX2 140.02 100 VWA3B 128.66 97.32 VWF 149.32 99.98 WAC 99.12 98.94 WARS2 112.29 99.98 WAS 100.81 93.81 WASF1 102.93 96.95 WDPCP 92.65 91.21 WDR11 110.01 99.00 WDR13 112.26 99.81 WDR19 111.62 97.95 WDR26 90.80 98.98 WDR34 137.89 99.91 WDR35 94.86 99.03 WDR36 85.46 98.26

WDR45 114.92 99.19 WDR45B 111.89 83.10 WDR60 102.69 98.17 WDR62 160.15 99.97 WDR65 130.66 99.98 WDR72 101.14 94.41 WDR73 146.29 89.96 WDR81 140.98 96.74 WFS1 144.04 100 WHRN WHSC1 125.22 90.80 WHSC1L1 105.83 98.80 WIPF1 105.80 99.93 WISP3 121.19 99.59 WNK1 117.49 99.90 WNK4 143.69 99.75 WNT1 152.94 98.92 WNT10A 133.02 96.98 WNT10B 187.97 100 WNT2B 131.63 95.34 WNT3 126.59 99.70 WNT4 177.62 100 WNT5A 132.23 100 WNT7A 181.74 99.97 WRAP53 194.61 100 WRN 96.11 99.13 WRN 96.11 99.13 WT1 98.97 96.04 WWC1 142.14 99.96 WWOX 116.19 91.42 XBP1 119.67 100 XDH 139.99 99.97 XG 104.84 94.91 XIAP 55.32 61.34 XIST XK 107.52 99.39 XPA 72.13 97.83 XPC 137.50 93.89 XPNPEP2 119.20 99.58 XPNPEP3 104.76 89.94 XPR1 125.34 99.86 XRCC2 115.07 99.74 XRCC3 145.29 99.38 XRCC4 112.17 99.14 XRCC5 121.34 99.97 XRCC6 126.91 99.92 XYLT1 163.44 99.99 XYLT2 138.53 94.21 YAP1 90.12 97.00 YARS 140.77 100

YARS2 106.44 99.90 YME1L1 74.65 92.35 YWHAE 70.46 72.74 YWHAG 130.10 100 YY1 97.70 99.63 YY1AP1 140.28 99.90 ZAK 102.92 99.33 ZAP70 152.75 98.66 ZBTB16 192.42 100 ZBTB18 110.61 100 ZBTB20 175.31 99.97 ZBTB24 120.20 99.87 ZBTB42 160.76 100 ZC3H14 104.36 98.49 ZC4H2 78.28 96.81 ZDHHC15 90.71 98.99 ZDHHC9 107.34 99.91 ZEB1 66.33 69.48 ZEB2 121.80 99.55 ZFAT 133.59 95.23 ZFHX3 133.51 99.93 ZFP57 133.09 100 ZFPM2 117.70 95.66 ZFYVE26 153.83 99.99 ZFYVE27 154.09 99.75 ZIC1 265.78 100 ZIC2 113.49 99.83 ZIC3 107.14 99.84 ZIC4 129.38 99.72 ZIM2 150.75 99.95 ZMPSTE24 93.75 99.80 ZMYM3 133.77 99.43 ZMYND10 197.63 99.98 ZMYND11 97.95 98.94 ZMYND15 155.79 99.97 ZNF141 116.22 99.71 ZNF148 80.80 96.58 ZNF252P ZNF292 65.65 92.57 ZNF335 178.12 99.99 ZNF365 121.68 99.94 ZNF407 139.86 99.93 ZNF408 171.43 100 ZNF41 115.69 98.72 ZNF423 204.04 100 ZNF469 106.19 100 ZNF480 101.89 70.60 ZNF513 181.68 100 ZNF565 122.19 90.96 ZNF592 187.20 100

ZNF644 109.68 100 ZNF674 116.34 80.52 ZNF687 209.99 99.75 ZNF711 84.40 95.71 ZNF750 150.35 100 ZNF81 98.86 95.60 ZP1 157.98 99.74 ZSWIM6 113.50 97.28

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Neurogenetica Dementie

Gemiddelde Percentage Gen coverage ≥20x coverage APOE 83 98,33 APP 132 99,9 C9orf72 90 99,25 CHMP2B 62 95,76 CSF1R 150 99,35 FUS 122 99,64 GRN 160 99,77 MAPT 126 93,8 NPC1 137 99,99 PRNP 149 100 PSEN1 112 99,67 PSEN2 151 100 SIGMAR1 185 100 SORL1 147 99,98 TARDBP 79 75,23 TREM2 167 100 UBE3A 81 96,85 UBQLN2 150 100 VCP 159 99,99

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Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) Onderstaande coverage is berekend over 150 exomen, welke geprept zijn met de Agilent SureSelect XT exome v6 kit. Het sequencen is uitgevoerd op een Illumina NextSeq500 of NovaSeq6000 met een gemiddelde coverage van 100X , dekking 20x >95%

Neurogenetica Parkinson/parkinsonisme

Gemiddelde Percentage Gen coverage ≥20x coverage ADH1C 138 99,65 ATP13A2 129 99,76 ATP1A3 169 99,9 DNAJC13 102 99,25 DNAJC6 120 99,54 EIF4G1 156 99,95 FBXO7 90 95,94 GBA 280 100 GIGYF2 120 98,59 HTRA2 168 99,95 LRRK2 95 98,37 PARK2 133 100 PARK7 88 98,62 PINK1 117 93,56 PLA2G6 115 97,72 PRKRA 150 99,94 SLC6A3 159 99,83 SNCA 113 99,92 SYNJ1 94 99,03 TAF1 99 98,08 UCHL1 128 94,82 VPS35 81 88,31

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Neurogenetica Neurodegeneratie met ijzerafzetting in de hersenen (NBIA)

Gemiddelde Percentage Gen coverage ≥20x coverage ATP13A2 129 99,76 C19orf12 106 75,56 CP 84 88,83 FA2H 137 87,78 FTL 111 98,89 PANK2 136 99,98 PLA2G6 115 97,72 SLC30A10 152 99,64 WDR45 115 99,19

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Neurogenetica Dandy Walker malformatie

Gemiddelde Percentage Gen coverage ≥20x coverage AP1S2 60 78,55 FGF17 148 99,76 FOXC1 114 100 LAMC1 143 99,97 NID1 158 100 ZIC1 266 100 ZIC4 129 99,72

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Amyloidose Amyloidose

Gemiddelde Percentage Gen coverage ≥20x coverage APOA1 176 100 APOA2 103 80 APOC2 166 100 APOC3 121 99,96 B2M 150 100 CST3 197 100 FGA 127 99,85 GSN 151 99,63 IL31RA 127 99,91 LYZ 147 99,97 OSMR 117 99,98 TTR 166 100

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Hart- en vaatziekten Pulmonale Arteriële Hypertensie

Gemiddelde Percentage Gen coverage ≥20x coverage ACVRL1 140 93,81 BMPR2 116 99,87 CAV1 110 99,96 EIF2AK4 113 99,44 ENG 152 99,66 KCNK3 112 99,34 SMAD9 118 99,98 TBX4 118 98,8

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Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) Preconceptie screening

Preconceptie screening Aandoening Nederlandse website Gen http://www.erfelijkheid.nl/ziektes/manno 1. Alpha-Mannosidose sidose-en-b MAN2B1 http://www.erfelijkheid.nl/content/ander 2. Andermann syndroom mann-syndroom SLC12A6 http://www.erfelijkheid.nl/content/aspart 3. Aspartylglucosaminurie ylglucosaminurie AGA http://www.erfelijkheid.nl/content/ataxia- 4. Ataxia telangiectasia telangiectasia ATM 5. Ataxie met vitamine E http://www.erfelijkheid.nl/ziektes/ataxie- deficiëntie met-vitamine-e-deficiëntie TTPA http://www.erfelijkheid.nl/content/bloom- 6. Bloom syndroom syndroom BLM (RECQL3) http://www.erfelijkheid.nl/content/citrulli 7. Citrullinemie type 1 nemie-type-1 ASS1 8. Congenitale defecten van de http://www.erfelijkheid.nl/content/cdg- glycosylering type 1A carbohydrate-deficient-glycoprotein- PMM2 http://www.erfelijkheid.nl/content/conge 9. Congenitale Finse nefrose nitale-nefrose-van-het-finse-type NPHS1 10-13. Congenitale spierdystrofie- http://www.erfelijkheid.nl/content/conge ISPD, RXYLT1 dystroglycanopathie, met hersenen nitale-spierdystrofie-dystroglycanopathie- (TMEM5), FKRP, http://www.erfelijkheid.nl/ziektes/cystic- 14. Cystic Fibrosis fibrosis CFTR 15. D-Bifunctionele proteine http://www.erfelijkheid.nl/content/d- deficiëntie bifunctionalprotein-deficiëntie HSD17B4 http://www.erfelijkheid.nl/content/epider LAMA3, LAMB3, 16-20. Epidermolysis Bullosa molysis-bullosa LAMC2, COL7A1, http://erfelijkheid.nl/content/familiaire- 21. Familiaire dysautonomie dysautonomie ELP1 (IKBKAP) 22. Fanconi anemie, http://www.erfelijkheid.nl/ziektes/fanconi- complementatie groep C anemie FANCC http://erfelijkheid.nl/ziektes/glutaaracidur 23. Glutaaracidurie type I ie-type-i GCDH 24. Glycogeenstapelingsziekte type http://www.erfelijkheid.nl/ziektes/glycoge Ia enstapelingsziekte-type-i G6PC 25. Glycogeenstapelingsziekten http://www.erfelijkheid.nl/ziektes/glycoge typeII enstapelingsziekten GAA 26. GM2 Gangliosidose, met name http://www.erfelijkheid.nl/content/ziekte- de ziekte van Tay Sachs van-tay-sachs HEXA http://www.erfelijkheid.nl/content/gracile- 27. GRACILE Syndroom syndroom BCS1L http://erfelijkheid.nl/content/hypofosfata 28. Hypofosfatasemie semie ALPL 29. Infantiele siaalzuur http://www.erfelijkheid.nl/content/infanti stapelingsziekte ele-siaalzuurstapelingsziekte SLC17A5 http://www.erfelijkheid.nl/ziektes/isovale 30. Isovaleriaan acidemie riaan-acidemie IVD http://www.erfelijkheid.nl/ziektes/joubert- 31. Joubert syndroom 2 syndroom TMEM216

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) http://www.erfelijkheid.nl/ziektes/klassiek 32. Klassieke homocystinurie e-homocystinurie CBS 33. LCHADD (trifunctioneel eiwit deficientie type 1) http://www.erfelijkheid.nl/content/lchadd HADHA 34-38. Leukoencefalopathie met http://www.erfelijkheid.nl/content/leukoe EIF2B1, EIF2B2, verdwijnende witte stof ncefalopathie-met-verdwijnende-witte- EIF2B3, EIF2B4, 39. Lipoamide dehydrogenase http://www.erfelijkheid.nl/ziektes/lipoami deficiëntie de-dehydrogenase-deficiëntie DLD 40. Longontsteking, immunodeficiëntie en chromosomale https://www.jci.org/articles/view/82890 NSMCE3 41. Maple syrup urine disease http://www.erfelijkheid.nl/ziektes/maple- (MSUD) syrup-urine-disease-msud BCKDHB

42. MCAD deficientie http://www.erfelijkheid.nl/content/mcadd ACADM http://www.erfelijkheid.nl/ziektes/meckel- 43. Meckel syndroom 2 syndroom TMEM216 44. Megalencephale http://www.erfelijkheid.nl/ziektes/megale leukoencephalopathie ncephale-leukoencephalopathie MLC1 45. Metachromatische http://www.erfelijkheid.nl/content/metac leukodystrofie hromatische-leukodystrofie ARSA

46. Methylmalonic aciduria http://omim.org/entry/251000 MUT 47. Mitochondriaal recessief ataxie http://www.erfelijkheid.nl/content/mitoc syndroom hondriaal-recessief-ataxie-syndroom POLG 48. Mitochondriaal DNA depletie http://www.erfelijkheid.nl/content/mitoc syndromen type 4A hondriaal-dna-depletie-syndroom-4a POLG 49. Mitochondriaal DNA depletie http://www.erfelijkheid.nl/content/mitoc syndroom type 4 B hondriaal-dna-depletie-syndroom-4b POLG http://www.erfelijkheid.nl/content/mucoli 50. Mucolipidose IV pidose-4 MCOLN1 51. Mucopolysaccharidose I (Hurler, http://www.erfelijkheid.nl/content/muco Hurler-Scheie) polysaccharidose-i IDUA 52-55. Mucopolysaccharidose III, http://www.erfelijkheid.nl/content/muco SGSH, NAGLU, Sanfilippo syndroom polysaccharidose-iii HGSNAT, GNS 56-57. Mucopolysaccharidose IV, http://www.erfelijkheid.nl/content/muco Morquio syndroom polysaccharidose-iv GALNS, GLB1 58. Mucopolysaccharidose VI, http://www.erfelijkheid.nl/content/muco Maroteaux-Lamy syndroom polysaccharidose-vi ARSB 59. Mucopolysaccharidose VII, Sly http://www.erfelijkheid.nl/content/muco syndroom polysaccharidose-vii GUSB 60-61. Neuronale ceroid lipofuscinose, http://www.erfelijkheid.nl/content/neuro types 1,2 nale-ceroid-lipofuscinose PPT1, TPP1 62. Neuronale ceroid lipofuscinose http://www.erfelijkheid.nl/content/ziekte- type 3, Ziekte van Batten-Spielmeyer- van-batten-spielmeyer-vogt-bsv CLN3 63. Neuronale ceroid lipofuscinose http://www.erfelijkheid.nl/content/neuro type 5, Finse variant nale-ceroid-lipofuscinose CLN5 64. Neuronale ceroid lipofuscinose http://www.erfelijkheid.nl/content/neuro type 8 & nale-ceroid-lipofuscinose-type-8 CLN8 Progressieve epilepsie en mentale http://www.erfelijkheid.nl/content/progre retardatie ssieve-epilepsie-met-mentale-retardatie http://www.erfelijkheid.nl/content/nijmeg 65. Nijmegen breuksyndroom en-breuksyndroom NBN

Genenlijst behorende bij LAB-F0014 Aanvraagformulier Moleculair Genetisch Onderzoek (Versie 12) 66. Ornithine transcarbamylase http://www.ncbi.nlm.nih.gov/books/NBK1 deficiency 54378/ OTC 67. Osteogenesis imperfecta, type http://www.erfelijkheid.nl/content/osteog VII enesis-imperfecta-oi CRTAP http://www.erfelijkheid.nl/content/autos 68. Osteopetrose omaal-recessieve-osteopetrose TCIRG1 http://www.erfelijkheid.nl/ziektes/pena- 69. Pena-Shokeir syndroom type 1 shokeir-syndroom-type-1 MUSK http://www.erfelijkheid.nl/content/cysten 70. Polycystische nierziekte ieren PKHD1 71. Pontocerebellaire hypoplasie http://www.erfelijkheid.nl/content/ponto type 1 cerebellaire-hypoplasie-type-1 VRK1 72-74. Pontocerebellaire hypoplasie http://www.erfelijkheid.nl/content/ponto TSEN54, TSEN2, type 2 (A,B en C) cerebellaire-hypoplasie-type-2-pch2 TSEN34 75. Pontocerebellaire hypoplasie type http://www.erfelijkheid.nl/content/ponto 6 cerebellaire-hypoplasie-type-6 RARS2 http://www.ncbi.nlm.nih.gov/books/NBK9 76. Propionicacidemia 2946/ PCCA 77-79. Rhizomele chondrodysplasie http://www.erfelijkheid.nl/content/rhizo punctata mele-chondrodysplasie-punctata-rcdp PEX7, GNPAT, AGPS http://www.erfelijkheid.nl/ziektes/sikkelc 80. Sikkelcelziekte elziekte HBB http://www.erfelijkheid.nl/content/sjögre 81. Sjögren-Larsson syndroom n-larsson-syndroom ALDH3A2 http://www.erfelijkheid.nl/content/smith- 82. Smith-Lemli-Opitz syndroom lemli-opitz-syndroom DHCR7 83. Spastische Ataxie (type http://www.erfelijkheid.nl/ziektes/autoso Charlevoix-Saguenay) maal-recessieve-spastische-ataxie-type- SACS 84. Spinale Musculaire Atrofie http://www.erfelijkheid.nl/content/spinal (SMA), type 0/1) e-musculaire-atrofie-sma SMN1 http://www.erfelijkheid.nl/ziektes/thalass 85-86.Thalassemie emie HBA1, HBA2 http://www.erfelijkheid.nl/ziektes/tyrosin 87. Tyrosinemie emie FAH http://www.erfelijkheid.nl/ziektes/very- 88. VLCAD deficientie long-chain-acyl-coa-dehydrogenase- ACADVL http://www.erfelijkheid.nl/content/zellwe 89-90. Zellweger syndroom ger-syndroom PEX1, PEX12 http://www.erfelijkheid.nl/content/ziekte- 91. Ziekte van Canavan van-canavan ASPA http://www.erfelijkheid.nl/content/krabb 92. Ziekte van Krabbe e-ziekte-van GALC http://www.erfelijkheid.nl/content/niema 93-94. Ziekte van Niemann-Pick nn-pick-ziekte-van NPC1, SMPD1

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Primaire Immuundeficiëntie HLH (hemofagocytaire lymfohistiocytose) / Immuundisregulatie

Gemiddelde Percentage Gen coverage ≥20x coverage AP3B1 73 92,38 RAB27A 127 99,87 LYST 99 97,72 PRF1 112 99,94 SH2D1A 111 98,07 STX11 199 100 STXBP2 121 93,16 UNC13D 121 97,89 XIAP 55 61,34

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Primaire Immuundeficiëntie ALPS (Autoimmuun Lymfoproliferatief Syndroom/Autoimmuniteit

Gemiddelde Percentage Gen coverage ≥20x coverage AIRE 95 95,27 CASP10 127 99,99 CASP8 130 99,97 FADD 160 100,00 FAS 184 99,69 FASLG 107 99,87 FOXP3 111 93,66 IL2RA 131 99,74 ITCH 104 95,80 KRAS 38 58,72 LRBA 97 97,82 NRAS 107 99,97

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Primaire Immuundeficiëntie

(S)CID ((Severe) combined immunodeficiency)

Gemiddelde Percentage Gen coverage ≥20x coverage ADA 130 91,60 AK2 107 90,13 CD3D 140 100,00 CD3E 156 100,00 CD3G 128 99,85 CD40 179 100,00 CD40LG 101 99,11 CD8A 144 99,08 CORO1A 153 99,31 DCLRE1C 101 93,23 DOCK8 118 97,04 IL2RA 131 99,74 IL2RG 128 99,95 IL7R 94 99,70 JAK3 141 99,45 LIG4 174 100,00 NHEJ1 122 99,97 ORAI1 100 95,34 PNP 139 99,66 PRKDC 106 98,84 PTPRC 79 95,42 RAG1 140 98,36 RAG2 81 99,48 STAT5B 150 99,91 STIM1 159 99,12 TBX1 122 93,80 ZAP70 153 98,66

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Primaire Immuundeficiëntie B cel pathologie

Gemiddelde Percentage Gen coverage ≥20x coverage AICDA 103 98,01 BLNK 106 97,78 BTK 123 99,92 CD19 144 98,92 CD40 179 100,00 CD40LG 101 99,11 CD79A 78 94,89 CD79B 216 100,00 CD81 142 90,83 ICOS 119 99,82 IGLL1 137 99,96 TNFRSF13B 122 86,39 TNFRSF13C 49 94,67 UNG 93 84,44

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Primaire Immuundeficiëntie HIES (hyper-IgE-syndroom)

Gemiddelde Percentage Gen coverage ≥20x coverage DOCK8 118 97,04 STAT3 126 99,91 TYK2 131 98,32

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Primaire Immuundeficiëntie

CMC (Chronische mucocutane candidiasis)

Gemiddelde Percentage Gen coverage ≥20x coverage AIRE 95 95,27 CARD9 145 99,70 IL17F 171 100,00 IL17RA 160 99,65 IL2RA 131 99,74 STAT1 98 98,58 TLR3 101 99,31

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Huidziekten Epidermolysis Bullosa

Gemiddelde Percentage Gen coverage ≥20x coverage ATP2A2 134 99,76 ATP2C1 114 99,68 CAST 92 96,11 CD151 106 99,85 CDSN 142 100 CHST8 102 77,5 COL17A1 126 99,85 COL7A1 159 99,79 CSTA 154 99,61 DSC1 100 96,82 DSC3 69 89,94 DSG1 86 96,72 DSG3 112 99,2 DSP 119 99,95 DST 97 99,05 EXPH5 108 97,66 FERMT1 105 99,92 FLG2 224 99,08 ITGA3 146 96,35 ITGA6 129 99,98 ITGB4 141 99,27 JUP 109 96,3 KLHL24 141 100 KRT1 118 99,97 KRT10 98 99,62 KRT14 120 99,8 KRT16 103 73,61 KRT17 68 91,25 KRT2 138 100 KRT5 131 99,83 KRT6A 239 99,64 KRT6B 248 100 KRT6C 229 100 KRT9 125 99,48 LAMA3 127 95,88 LAMB3 150 100 LAMC2 147 99,99 IKBKG 106 94,36 PKP1 145 99,96 PLEC 131 98,19 SERPINB8 118 99,96 SPINK5 114 98,99 TGM5 147 99,47 TP63 114 93,85 Terug naar inhoudsopgave WNT10A 133 96,98

Huidziekten Huidfragiliteit overig

Gemiddelde Percentage Gen coverage ≥20x coverage ADAMTS2 150 99,77 APOA1BP 123 99,91 B3GALT6 206 100 CYP26C1 110 99,91 ERCC5 111 99,95 GJB2 152 100 GJB6 209 100 KIT 147 99,89 PLCG2 147 99,94 PLOD3 125 99,14 PPOX 154 100 SLC39A4 140 99,92 SMARCAD1 97 99,26 TMEM173 148 99,52 TWIST2 117 100 UROD 165 99,84 UROS 122 97,82 USB1 123 99,3 ZAP70 153 98,66

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Epilepsie Benigne familiaire neonatale/infantiele convulsies

Gemiddelde Percentage Gen coverage ≥20x coverage KCNQ2 117 97,68 KCNQ3 150 99,99 PRRT2 74 50 SCN2A 99 95,31 TBC1D24 116 69,55

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Epilepsie Focale epilepsie

Gemiddelde Percentage Gen coverage ≥20x coverage CHRNA2 187 100 CHRNA4 140 99,96 CHRNB2 119 90,96 CNTNAP2 128 99,81 CPA6 110 98,9 DCX 132 99,89 DEPDC5 133 99,08 GRIN2A 151 91,66 KCNT1 132 96,03 LGI1 95 98,98 NPRL2 211 100 NPRL3 133 99,83 POLG 148 99,9 RELN 124 99,73 SYN1 125 95,42

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Epilepsie

Stofwisselingsziekte met epilepsie

Gemiddelde Percentage Gen coverage ≥20x coverage ADSL 179 100 ALDH7A1 89 99,12 ALG13 105 98,45 AMT 184 100 ASAH1 88 97,72 CASR 137 99,8 CBS 145 99,74 CLN3 133 96,44 CLN5 153 99,21 CLN6 149 95,08 CLN8 187 100 CPT2 125 99,34 CTSD 175 99,84 DNAJC5 195 100 FOLR1 155 100 GAMT 133 99,94 GATM 96 89,97 GCSH 57 85,28 GLDC 101 96,86 GLRA1 136 99,97 GLRB 100 96,62 GPHN 119 95,93 GRN 160 99,77 HCFC1 130 99,34 HPRT1 67 93,54 MFSD8 77 97,74 MOCS1 105 99,98 MOCS2 112 99,36 MTHFR 179 100 PIGA 74 92,18 PIGN 67 86,75 PIGT 157 99,99 PLP1 99 99,68 PNPO 97 99,29 PPT1 119 99,8 PSAT1 81 98,63 PSPH 94 99,87 RNASEH2A 213 100 RNASEH2B 86 91,51 RNASEH2C 236 100 SAMHD1 100 99,79 SLC16A2 109 99,76 SLC19A3 113 99,48 SLC2A1 199 100

SLC35A2 132 93,41 SLC6A8 106 90,24 TPP1 172 95,61 TREX1 125 100

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Epilepsie Epilepsie in combinatie met paroxysmale aandoeningen

Gemiddelde Percentage Gen coverage ≥20x coverage ARHGEF9 96 99,03 ATP1A2 153 97,73 ATP1A3 169 99,9 CACNA1A 130 94,95 CACNB4 112 99,57 GLRA1 136 99,97 GLRB 100 96,62 KCNA2 137 99,96 KCNMA1 133 99,8 PRRT2 74 50 SCN1A 86 97,52 SLC1A3 128 99,58 SLC2A1 199 100 SLC6A5 134 99,97

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Neurogenetica Myoclonus tot en met 17 jaar

Gemiddelde Percentage Gen coverage ≥20x coverage ADCK3 118 99,92 ADCY5 144 99,87 AMT 184 100 ANO3 101 99,32 ARHGEF9 96 99,03 ASAH1 88 97,72 ATM 92 97,58 ATP13A2 129 99,76 ATP7A 103 99,38 ATP7B 166 100 BRAT1 109 99,69 CACNA1A 130 94,95 CACNA1B 157 97,15 CACNB4 112 99,57 CAMTA1 140 96,59 CARS2 141 97,16 CASR 137 99,8 CDKL5 95 98,15 CERS1 132 85,5 CHD2 120 97,37 CLCN2 167 99,98 CLN3 133 96,44 CLN5 153 99,21 CLN6 149 95,08 CLN8 187 100 CNTN2 167 100 CSTB 157 100 CYP27A1 202 100 DNAJC5 195 100 DNAJC6 120 99,54 EFHC1 124 99,68 EIF2B5 165 99,98 EPM2A 94 99,63 FOLR1 155 100 FOXG1 31 75,1 GABRA1 114 99,54 GABRD 147 88,79 GABRG2 102 98,43 GALC 83 92,03 GBA 280 100 GCSH 57 85,28 GFAP 121 99,74 GLDC 101 96,86 GLRA1 136 99,97 GLRB 100 96,62

GNAO1 152 99,9 GOSR2 119 87,04 HEXA 137 99,98 HEXB 108 99,37 KCNC1 138 100 KCNC3 56 72,3 KCND3 105 100 KCTD17 107 98,13 KCTD7 116 86,52 KMT2B 161 97,09 MECP2 72 86,95 MFSD8 77 97,74 NEU1 166 99,94 NHLRC1 134 99,87 NKX2-1 103 100 NPC1 137 99,99 NPC2 135 99,98 PANK2 136 99,98 PCDH19 130 99,63 PIGA 74 92,18 POLG 148 99,9 PPT1 119 99,8 PRICKLE1 122 99,98 PRKCG 168 99,88 PSAP 132 99,99 RELN 124 99,73 RNASEH2A 213 100 RNASEH2B 86 91,51 RNASEH2C 236 100 RPS6KA3 71 91,98 SACS 100 99,83 SAMHD1 100 99,79 SCARB2 112 99,8 SCN1A 86 97,52 SCN2A 99 95,31 SCN8A 122 99,94 SCN9A 88 98,64 SGCE 80 93,08 SLC2A1 199 100 SLC6A1 136 99,91 SLC6A5 134 99,97 STXBP1 134 99,98 TBC1D24 116 69,55 TH 115 96,4 TPP1 172 95,61 TREX1 125 100 UBE3A 81 96,85

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Neurogenetica Myoclonus Volwassenen

Gemiddelde Percentage Gen coverage ≥20x coverage ADCK3 118 99,92 ADCY5 144 99,87 AMT 184 100 ANO3 101 99,32 ARHGEF9 96 99,03 ASAH1 88 97,72 ATM 92 97,58 ATP13A2 129 99,76 ATP7A 103 99,38 ATP7B 166 100 CACNA1A 130 94,95 CACNA1B 157 97,15 CACNB4 112 99,57 CAMTA1 140 96,59 CARS2 141 97,16 CASR 137 99,8 CDKL5 95 98,15 CERS1 132 85,5 CHD2 120 97,37 CLCN2 167 99,98 CLN3 133 96,44 CLN5 153 99,21 CLN6 149 95,08 CLN8 187 100 CNTN2 167 100 CSTB 157 100 CYP27A1 202 100 DNAJC5 195 100 DNAJC6 120 99,54 EFHC1 124 99,68 EIF2B5 165 99,98 EPM2A 94 99,63 FOXG1 31 75,1 GABRA1 114 99,54 GABRD 147 88,79 GABRG2 102 98,43 GALC 83 92,03 GBA 280 100 GCSH 57 85,28 GFAP 121 99,74 GLDC 101 96,86 GLRA1 136 99,97 GLRB 100 96,62 GNAO1 152 99,9 GOSR2 119 87,04

GRN 160 99,77 HEXA 137 99,98 HEXB 108 99,37 KCNC1 138 100 KCNC3 56 72,3 KCND3 105 100 KCTD17 107 98,13 KCTD7 116 86,52 KMT2B 161 97,09 MAPT 126 93,8 MECP2 72 86,95 MFSD8 77 97,74 NEU1 166 99,94 NHLRC1 134 99,87 NKX2-1 103 100 NPC1 137 99,99 NPC2 135 99,98 PANK2 136 99,98 PCDH19 130 99,63 PIGA 74 92,18 POLG 148 99,9 PPT1 119 99,8 PRICKLE1 122 99,98 PRKCG 168 99,88 PRNP 149 100 PSAP 132 99,99 PSEN1 112 99,67 RELN 124 99,73 RNASEH2A 213 100 RNASEH2B 86 91,51 RNASEH2C 236 100 RPS6KA3 71 91,98 SACS 100 99,83 SAMHD1 100 99,79 SCARB2 112 99,8 SCN1A 86 97,52 SCN2A 99 95,31 SCN8A 122 99,94 SCN9A 88 98,64 SERPINI1 101 99,53 SGCE 80 93,08 SLC2A1 199 100 SLC6A1 136 99,91 SLC6A5 134 99,97 SNCA 113 99,92 STXBP1 134 99,98 TBC1D24 116 69,55 TH 115 96,4 TPP1 172 95,61 TREX1 125 100

UBE3A 81 96,85

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Huidziekten Ectodermaledysplasie syndromaal

Gemiddelde Percentage Gen coverage ≥20x coverage ATP6V1B2 130 99,66 AXIN2 122 99,95 BCOR 111 98,85 CCBE1 148 99,56 CDH3 156 99,64 CLDN10 130 99,61 COG6 78 97,07 CTSC 123 100 DPH1 140 99,69 EVC 128 95,28 EVC2 130 99,82 FGFR1 142 99,98 FLNA 155 99,69 GRHL2 136 99,83 HPGD 91 98,82 IFT122 151 95,54 IFT43 145 100 IKBKG 106 94,36 IRF6 160 100 KCTD1 113 99,94 LTBP3 121 98,49 MBTPS2 83 94,84 NFKBIA 130 95,48 ORAI1 100 95,34 PIGL 135 80,22 PORCN 132 99,2 PRKD1 100 93,07 PTHLH 131 98,16 PVRL1 157 99,91 PVRL4 141 100 RECQL4 158 99,56 RHBDF2 131 96,35 RUNX2 94 90,54 SATB2 122 99,43 SH3BP2 122 87,9 SMARCAD1 97 99,26 SMOC2 102 90,07 TAT 149 100 TP63 114 93,85 TWIST2 117 100 UBR1 91 99,01 USB1 123 99,3 WDR19 112 97,95 WDR35 95 99,03 Terug naar inhoudsopgave

Angio-Oedeem Angio-oedeem

Gemiddelde Percentage Gen coverage ≥20x coverage ANGPT1 97 98,81 F12 145 99,63 PLG 128 99,68 SERPING1 111 88,37

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Epilepsie Progressieve myoclone epilepsie

Gemiddelde Percentage Gen coverage ≥20x coverage ASAH1 88 97,72 CLN3 133 96,44 CLN5 153 99,21 CLN6 149 95,08 CLN8 187 100 CTSD 175 99,84 DNAJC5 195 100 EPM2A 94 99,63 GOSR2 119 87,04 GRN 160 99,77 KCNA2 137 99,96 KCNC1 138 100 KCTD7 116 86,52 MFSD8 77 97,74 NHLRC1 134 99,87 PPT1 119 99,8 PRICKLE1 122 99,98 PRICKLE2 148 99,62 SCARB2 112 99,8 SLC25A15 142 92,59 TPP1 172 95,61

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Hart- en vaatziekten Aritmie

Gemiddelde Percentage Gen coverage ≥20x coverage ABCC9 106 98,92 AKAP9 86 98,63 ANK2 121 99,27 ASPH 84 95,46 CACNA1C 135 99,79 CACNA1D 135 99,68 CACNA2D1 80 91,98 CACNB2 119 99,39 CALM1 115 100 CALM2 52 69,66 CALM3 149 99,03 CASQ2 130 99,96 CAV3 87 100 GJA5 130 100 GPD1L 122 99,61 HCN4 153 99,82 JPH2 118 99,85 KCNA5 162 100 KCND3 105 100 KCNE1 172 100 KCNE2 101 100 KCNE3 46 98,43 KCNE5 119 90,96 KCNH2 102 98,41 KCNJ2 160 100 KCNJ5 227 100 KCNJ8 151 100 KCNQ1 118 93,68 LAMP2 89 98,24 LMNA 92 97,61 NKX2-5 133 100 NPPA 158 100 PKP2 121 98,18 PLN 72 99,34 PPA2 83 94,68 PRKAG2 115 90,62 RANGRF 115 100 RYR2 115 99,11 SCN10A 151 99,92 SCN1B 178 81,18 SCN2B 180 99,9 SCN3B 172 100 SCN4B 107 99,87 SCN5A 160 99,92 SLMAP 97 98,48

SNTA1 155 99,51 TNNT2 119 98,87 TRDN 57 82,73 TRPM4 114 98,31

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Hart- en vaatziekten Dyslipidemie - Cerebrotendineuze

Gemiddelde Percentage Gen coverage ≥20x coverage CYP27A1 202 100

Terug naar inhoudsopgave

Hart- en vaatziekten Dyslipidemie - Chylomicron retention disease

Gemiddelde Percentage Gen coverage ≥20x coverage SAR1B 96 89,95

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Hart- en vaatziekten Dyslipidemie - Dysbetalipoproteinemie

Gemiddelde Percentage Gen coverage ≥20x coverage APOE 83 98,33

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Hart- en vaatziekten Dyslipidemie (totaal)

Gemiddelde Percentage Gen coverage ≥20x coverage ABCA1 127 99,91 ABCG5 121 92,65 ABCG8 146 98,94 ANGPTL3 103 98,22 APOA1 176 100 APOA5 101 69,51 APOB 159 99,93 APOC2 166 100 APOC3 121 99,96 APOE 83 98,33 CETP 164 99,98 CYP27A1 202 100 CYP7A1 112 99,26 GPIHBP1 100 76,9 LCAT 130 75,08 LDLR 168 94,85 LDLRAP1 163 97,58 LIPA 141 99,86 LIPC 134 99,99 LIPG 128 100 LMF1 116 92,41 LPL 145 99,85 MTTP 114 99,55 MYLIP 123 99,44 PCSK9 115 92,96 SAR1B 96 89,95 SCARB1 176 96,08 STAP1 99 99,87

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Hart- en vaatziekten Dyslipidemie - Hyperalfalipoproteinemie

Gemiddelde Percentage Gen coverage ≥20x coverage APOC3 121 99,96 CETP 164 99,98 LIPC 134 99,99 LIPG 128 100 SCARB1 176 96,08

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Hart- en vaatziekten Dyslipidemie - Hypertriglyceridemie

Gemiddelde Percentage Gen coverage ≥20x coverage APOA5 101 69,51 APOC2 166 100 APOE 83 98,33 GPIHBP1 100 76,9 LMF1 116 92,41 LPL 145 99,85

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Hart- en vaatziekten Dyslipidemie - Hypobetalipoproteinemie

Gemiddelde Percentage Gen coverage ≥20x coverage ANGPTL3 103 98,22 APOB 159 99,93 MTTP 114 99,55 MYLIP 123 99,44 PCSK9 115 92,96

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Hart- en vaatziekten LQT

Gemiddelde Percentage Gen coverage ≥20x coverage KCNE1 172 100 KCNE2 101 100 KCNH2 102 98,41 KCNQ1 118 93,68 SCN5A 160 99,92

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Hart- en vaatziekten Dyslipidemie - Statine resistentie fenotype

Gemiddelde Percentage Gen coverage ≥20x coverage CYP7A1 112 99,26

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Hart- en vaatziekten Dyslipidemie - Hypoalfalipoproteinemie

Gemiddelde Percentage Gen coverage ≥20x coverage ABCA1 127 99,91 APOA1 176 100 LCAT 130 75,08

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Neurogenetica Spastische paraplegie

Gemiddelde Percentage Gen coverage ≥20x coverage ABCD1 87 67,72 AP4B1 139 100 AP4E1 88 94,17 AP4M1 144 94,31 AP4S1 77 95,3 AP5Z1 90 99,07 ATL1 115 99,62 B4GALNT1 189 99,71 BSCL2 168 100 C12orf65 118 99,74 C19orf12 106 75,56 CAPN1 171 96,07 CCT5 135 93,26 CYP2U1 104 99,92 CYP7B1 113 99,65 DDHD1 117 99,7 DDHD2 111 99,75 ENTPD1 123 98,57 ERLIN2 141 99,81 FA2H 137 87,78 FAM134B 109 98,66 GBA2 184 100 GBE1 109 99,36 GJC2 132 100 HSPD1 59 82 KIAA0196 114 99,8 KIF1A 145 99,02 KIF1C 154 99,99 KIF5A 147 99,73 L1CAM 128 98,71 MTPAP 91 96,64 NIPA1 143 99,96 PLP1 99 99,68 PNPLA6 129 99,42 RAB3GAP2 98 99,04 REEP1 101 88,8 RTN2 155 100 SACS 100 99,83 SLC16A2 109 99,76 SLC33A1 94 99,08 SPAST 81 98,69 SPG11 108 97,32 SPG20 119 99,81 SPG21 102 89,81 SPG7 145 93,88

TECPR2 165 99,98 TFG 89 98,22 TH 115 96,4 VAMP1 128 100 VCP 159 99,99 VPS37A 49 80,73 WWOX 116 91,42 ZFYVE26 154 99,99 ZFYVE27 154 99,75

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Hart- en vaatziekten Dyslipidemie - Hypercholesterolemie

Gemiddelde Percentage Gen coverage ≥20x coverage ABCG5 121 92,65 ABCG8 146 98,94 APOB 159 99,93 LDLR 168 94,85 LDLRAP1 163 97,58 LIPA 141 99,86 PCSK9 115 92,96 STAP1 99 99,87

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