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PIK3CA-E542K 100 % AF FFPE Reference Standard curl

PIK3CA-E542K 100 % AF FFPE Reference Standard curl ist ein hervorragend charakterisiertes humanes FFPE-Material, das aus einer menschlichen Zelllinie erzeugt wurde. Hergestellt für FFPE (Gewebe)-Tests in Ihrem Diagnostiklabor oder Ihrer F&E-Abteilung. Informationen über den Mutationsstatus weiterer Gene finden sie auf dieser Produktseite frei zugänglich.

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SKU: SID-000101 Category:

Produktinformation

Diese Produkte sind in idealer Weise geeignet für digitale PCR und/oder Next Generation Sequencing (NGS). Insbesondere zur
– Validierung und Entwicklung von Sequenzierprotokollen (z.B. Amplicon Sequencierung) und PCR-Protokollen
– zur Bestimmung der Nachweisgrenze der Methode
– zur Extraktionskontrolle

– routinemäßige Leistungsüberwachung (Nur für Forschungszwecke)

Produktübersicht

Format: FFPE (Formalin Fixed Paraffin Embedded)

Menge pro Verkaufseinheit: 1 FFPE Schnitt in einem Röhrchen (gerollt)

Erwartete DNA Menge pro Röhrchen: ≥ 400 ng / Schnitt bei Verwendung von Qiagen AllPrep DNA/RNA FFPE kit

Erwartete RNA Menge pro Röhrchen: ≥ 400 ng / Schnitt bei Verwendung von Qiagen AllPrep DNA/RNA FFPE kit

Schnittdicke: 10 µm

Mutationen:

48 krebsrelevante Mutationen in 42 Genen. Liste der mutierten Gene mit spezifischen Mutationen im Anhang unter Dokumente.

Getestet für PIK3CA-E542K (HGVS: c.1624G>A) mit ddPCR zur präzisen Bestimmung der Allelfrequenz.

Das Genom wurde sequenziert und mittels ddPCR orthogenal auf spezifische Mutationen getestet.

Allelfrequenz: 100%

Lagerung: 2-8 °C

Haltbarkeit: 24 Monate nach Herstellungsdatum

Qualitätssicherung (DNA)

Allelfrequenz/Kopienzahl (metrologisch rückverfolgbar): ddPCR (Bio-Rad)

Quantifizierung (metrologisch rückverfolgbar): fluorometrische dsDNA Messung (QuBit)

DNA Quality: Agarose Gelelectrophorese

Qualitätssicherung (RNA)

Quantifizierung: fluorometrische RNA Messung (Qubit)

Qualitätssicherung (weitere)

Zelldichte:

1. Visuell über Durchlichtmikroskopie

2. kalibrierte Messung

Technischer Hintergrund

Ursprung:
humane Zelllinie

 

*GRCh38 COSMICv90

Dokumente

Analysezertifikat:

Lot: 00061

Gebrauchsanweisung

Sicherheitsdatenblatt

Zusätzlich enthaltene Mutationen

Zusätzliche Mutationen:

  • in 600 Genen
  • davon 42 tumorrelevante Gene
  • 639 Mutationen gesamt
  • 467 Nonsens Mutationen

Übersicht der tumorrelevanten Gene

APC COL2A1 KIAA1549 NRG1 ZNF479
ARID1A COL3A1 KMT2C PDGFRB ZNRF3
ARID2 DCAF12L2 KMT2D PICALM
ATM DNM2 KRAS PIK3CA
ATRX ELF3 LATS2 PRPF40B
BCL3 EP300 LRP1B RHOA
BCR EPHA3 MED12 SETBP1
CARS FLI1 MUC16 SMAD4
CD79B HIP1 NCOR2 TP53
CHST11 IRS4 NFATC2 TRRAP

Liste aller Mutationen

Hugo Symbol Chr Start Position End Position Variant Classification Variant Type Reference Allele Tumor Seq Allele Protein Change Cancer Gene?
APC 5 112174631 112174631 Nonsense_Mutation SNP C T p.R1114* yes
APC 5 112175576 112175576 Nonsense_Mutation SNP C T p.Q1429* yes
ARID1A 1 27087528 27087528 Missense_Mutation SNP G C p.G701A yes
ARID2 12 46123673 46123673 Silent SNP T G p.A18A yes
ATM 11 108196092 108196092 Nonsense_Mutation SNP C T p.Q2210* yes
ATRX 0 76972663 76972663 Silent SNP T A p.S26S yes
BCL3 19 45262795 45262795 Missense_Mutation SNP G C p.A430P yes
BCR 22 23523310 23523310 Missense_Mutation SNP C T p.R55C yes
CARS 11 3041536 3041536 Missense_Mutation SNP G T p.L311M yes
CD79B 17 62009684 62009684 De_novo_Start_OutOfFrame SNP G A yes
CHST11 12 105151099 105151099 Missense_Mutation SNP G A p.V193M yes
COL2A1 12 48372463 48372463 Missense_Mutation SNP G T p.P938T yes
COL3A1 2 189860506 189860506 Missense_Mutation SNP C A p.P533Q yes
DCAF12L2 0 125299284 125299284 Silent SNP A G p.A208A yes
DNM2 19 10939935 10939935 Missense_Mutation SNP G C p.S761T yes
ELF3 1 201982389 201982389 Silent SNP G A p.E256E yes
EP300 22 41572533 41572533 Splice_Site SNP G T yes
EPHA3 3 89259103 89259103 Missense_Mutation SNP A G p.R83G yes
FLI1 11 128628110 128628110 Missense_Mutation SNP C A p.P40H yes
HIP1 7 75172176 75172176 Nonsense_Mutation SNP C A p.E962* yes
IRS4 0 107975960 107975960 Silent SNP C T p.G1205G yes
KIAA1549 7 138566187 138566187 Missense_Mutation SNP G T p.D1392E yes
KMT2C 7 151921651 151921651 Silent SNP C A p.V1009V yes
KMT2D 12 49420391 49420391 Missense_Mutation SNP G A p.R5120C yes
KMT2D 12 49435893 49435893 Missense_Mutation SNP T G p.N2030H yes
KRAS 12 25380276 25380276 Missense_Mutation SNP T A p.Q61L yes
LATS2 13 21562047 21562047 Silent SNP C T p.R624R yes
LATS2 13 21555745 21555745 Missense_Mutation SNP C A p.W842L yes
LRP1B 2 142888422 142888422 De_novo_Start_OutOfFrame SNP C T yes
MED12 0 70357701 70357701 Silent SNP T A p.L1984L yes
MED12 0 70360564 70360564 Missense_Mutation SNP G A p.V2042I yes
MUC16 19 9003566 9003566 Splice_Site SNP C T p.L13358L yes
MUC16 19 9075760 9075760 Nonsense_Mutation SNP C A p.E3896* yes
NCOR2 12 124824635 124824635 Silent SNP G A p.L1868L yes
NFATC2 20 50133338 50133338 Silent SNP G A p.G439G yes
NFATC2 20 50049005 50049005 Missense_Mutation SNP G A p.P774L yes
NRG1 8 32621457 32621457 Missense_Mutation SNP G A p.R487Q yes
PDGFRB 5 149509530 149509530 Splice_Site SNP A C p.C457G yes
PICALM 11 85737367 85737367 Missense_Mutation SNP A C p.L106V yes
PIK3CA 3 178936082 178936082 Missense_Mutation SNP G A p.E542K yes
PRPF40B 12 50027248 50027248 Silent SNP G A p.S144S yes
RHOA 3 49412973 49412973 Missense_Mutation SNP C T p.G17E yes
SETBP1 18 42532870 42532870 Silent SNP C A p.R1189R yes
SMAD4 18 48604787 48604787 Missense_Mutation SNP G T p.D537Y yes
TP53 17 7579336 7579336 Frame_Shift_Del DEL C – p.G117fs yes
TRRAP 7 98581897 98581897 Silent SNP C T p.I3072I yes
ZNF479 7 57188649 57188649 Missense_Mutation SNP T G p.Q158P yes
ZNRF3 22 29445559 29445559 Nonsense_Mutation SNP C T p.Q464* yes
ABCB4 7 87072746 87072746 Silent SNP G C p.L415L no/unknown
ABCB7 0 74288954 74288954 Missense_Mutation SNP C T p.R516K no/unknown
ABCC4 13 95818439 95818439 Silent SNP C T p.L669L no/unknown
ABI3 17 47288133 47288133 Missense_Mutation SNP G A p.R16Q no/unknown
AC019294.1 15 76030761 76030761 Missense_Mutation SNP C A p.Q129K no/unknown
ACTR2 2 65488470 65488470 Silent SNP A T p.G275G no/unknown
ADAM21 14 70925149 70925149 Silent SNP T C p.Y311Y no/unknown
ADAM21 14 70925150 70925150 Missense_Mutation SNP G A p.V312I no/unknown
ADAMTS10 19 8651746 8651746 Silent SNP G A p.S731S no/unknown
ADORA3 1 112031346 112031346 Missense_Mutation SNP A T p.V253E no/unknown
ADRA2B 2 96781576 96781576 Missense_Mutation SNP C T p.A105T no/unknown
AIFM2 10 71877675 71877675 Splice_Site SNP A G p.V170A no/unknown
AKAP6 14 33242908 33242908 Nonsense_Mutation SNP C T p.R1133* no/unknown
AL590867.1 6 153668271 153668271 Missense_Mutation SNP A C p.Q189H no/unknown
ALDH1L2 12 105464377 105464377 Silent SNP G T p.P133P no/unknown
ALOX12B 17 7990676 7990676 Missense_Mutation SNP T A p.T29S no/unknown
ALPK3 15 85402538 85402538 Silent SNP G T p.L1496L no/unknown
ANGEL2 1 213181772 213181772 Missense_Mutation SNP T C p.H141R no/unknown
ANK2 4 114275162 114275162 Missense_Mutation SNP C A p.D1796E no/unknown
ANO8 19 17435666 17435666 Missense_Mutation SNP G A p.P1064L no/unknown
AOX1 2 201478668 201478668 Silent SNP G A p.V530V no/unknown
AP3B2 15 83334329 83334329 Splice_Site SNP T A no/unknown
AP3B2 15 83349283 83349283 Silent SNP C T p.A332A no/unknown
APOL2 22 36635637 36635637 De_novo_Start_OutOfFrame SNP C T no/unknown
ARCN1 11 118468431 118468431 Silent SNP C T p.V417V no/unknown
AREGB 4 75485945 75485945 Missense_Mutation SNP G C p.A202P no/unknown
ARHGAP11A 15 32928463 32928463 Nonsense_Mutation SNP G T p.E497* no/unknown
ARHGAP27 17 43473484 43473484 Splice_Site SNP C A no/unknown
ARHGEF17 11 73020823 73020823 Silent SNP C T p.Y380Y no/unknown
ARL1 12 101799717 101799717 Missense_Mutation SNP C T p.R16Q no/unknown
ARMC4 10 28257872 28257872 Silent SNP G A p.H406H no/unknown
ARX 0 25031187 25031187 Missense_Mutation SNP C G p.D309H no/unknown
ARX 0 25031533 25031533 Silent SNP G A p.G193G no/unknown
ASB5 4 177142621 177142621 Missense_Mutation SNP G A p.T172M no/unknown
ASNS 7 97482387 97482387 Silent SNP T C p.E487E no/unknown
ATG2A 11 64670032 64670032 Missense_Mutation SNP G A p.P1245S no/unknown
ATOH7 10 69991128 69991128 Missense_Mutation SNP C A p.G103C no/unknown
ATP10A 15 25959144 25959144 Missense_Mutation SNP G A p.A674V no/unknown
ATP10B 5 160059370 160059370 Silent SNP C T p.K462K no/unknown
ATP2B1 12 89996824 89996824 Missense_Mutation SNP A G p.V1019A no/unknown
ATP4B 13 114309243 114309243 Missense_Mutation SNP A T p.Y43N no/unknown
ATP8B3 19 1784887 1784887 Silent SNP C A p.V1197V no/unknown
AXDND1 1 179503950 179503950 Missense_Mutation SNP G A p.D962N no/unknown
B4GALT7 5 177027218 177027218 Missense_Mutation SNP C T p.P3S no/unknown
BBS2 16 56544788 56544788 Missense_Mutation SNP C T p.G173S no/unknown
BBS4 15 73002056 73002056 Missense_Mutation SNP T A p.I31N no/unknown
BLOC1S6 15 45879692 45879692 Silent SNP C A p.P17P no/unknown
BMP1 8 22064957 22064957 Missense_Mutation SNP A T p.S835C no/unknown
BNC2 9 16583016 16583016 Missense_Mutation SNP G A p.T133I no/unknown
BOC 3 112999918 112999918 Silent SNP G A p.E783E no/unknown
BPIFA3 20 31805346 31805346 Missense_Mutation SNP A T p.M2L no/unknown
BPIFB2 20 31601711 31601711 Missense_Mutation SNP C G p.S135C no/unknown
BPIFB3 20 31643329 31643329 Missense_Mutation SNP A G p.I34V no/unknown
BROX 1 222892338 222892338 Missense_Mutation SNP A G p.K58R no/unknown
BRSK2 11 1481951 1481951 Nonstop_Mutation SNP T C p.*737Q no/unknown
C10orf71 10 50532313 50532313 Missense_Mutation SNP G A p.D575N no/unknown
C10orf71 10 50532706 50532706 Missense_Mutation SNP G C p.E706Q no/unknown
C12orf40 12 40076478 40076478 Missense_Mutation SNP C T p.T251M no/unknown
C12orf5 12 4446284 4446284 Missense_Mutation SNP G C p.K50N no/unknown
C12orf68 12 48578033 48578033 Missense_Mutation SNP T C p.L43P no/unknown
C16orf54 16 29756012 29756012 Silent SNP G A p.T87T no/unknown
C17orf47 17 56621133 56621133 Missense_Mutation SNP A T p.S139T no/unknown
C1QTNF5 11 119210086 119210086 Silent SNP T C p.G229G no/unknown
C1RL 12 7260931 7260931 Silent SNP C T p.K72K no/unknown
C20orf202 20 1187520 1187520 Missense_Mutation SNP T C p.M48T no/unknown
C2orf54 2 241835230 241835230 Missense_Mutation SNP G A p.S62F no/unknown
C2orf71 2 29287847 29287847 Missense_Mutation SNP G C p.S1252C no/unknown
C3orf17 3 112724734 112724734 Frame_Shift_Del DEL T – p.L451fs no/unknown
C4orf21 4 113538787 113538787 Missense_Mutation SNP G T p.A804D no/unknown
C5orf50 5 171212955 171212955 Missense_Mutation SNP G A p.G27D no/unknown
C7orf10 7 40228153 40228153 Missense_Mutation SNP T A p.Y103N no/unknown
C7orf50 7 1037383 1037383 Frame_Shift_Del DEL C – p.A155fs no/unknown
C9orf172 9 139739753 139739753 Missense_Mutation SNP C T p.A296V no/unknown
CACNA1A 19 13409659 13409659 Missense_Mutation SNP G C p.R930G no/unknown
CACNA1A 19 13418999 13418999 Silent SNP C T p.L616L no/unknown
CACNA1S 1 201054594 201054594 Missense_Mutation SNP C T p.E374K no/unknown
CACNA2D1 7 81714153 81714153 Missense_Mutation SNP C T p.R197H no/unknown
CACNA2D3 3 54157615 54157615 Silent SNP G T p.L66L no/unknown
CALD1 7 134620456 134620456 Silent SNP T C p.T442T no/unknown
CALD1 7 134635199 134635199 Silent SNP A T p.P623P no/unknown
CASP5 11 104872776 104872776 Silent SNP G A p.D232D no/unknown
CATSPER4 1 26524248 26524248 Silent SNP T C p.N177N no/unknown
CC2D1A 19 14024008 14024008 Silent SNP C T p.L136L no/unknown
CC2D2A 4 15597804 15597804 Missense_Mutation SNP C T p.P1471S no/unknown
CCDC129 7 31617828 31617828 Missense_Mutation SNP C A p.S317Y no/unknown
CCDC65 12 49325219 49325219 Missense_Mutation SNP T C p.W485R no/unknown
CCDC7 10 32854532 32854532 Missense_Mutation SNP T G p.L394W no/unknown
CCT7 2 73470205 73470205 Missense_Mutation SNP A C p.E114A no/unknown
CD2BP2 16 30364358 30364358 Missense_Mutation SNP G A p.P325L no/unknown
CD96 3 111264149 111264149 Missense_Mutation SNP G T p.R106S no/unknown
CDC42BPB 14 103410771 103410771 Missense_Mutation SNP T A p.R1289W no/unknown
CDC42BPB 14 103442059 103442059 Missense_Mutation SNP A C p.L490R no/unknown
CDK15 2 202671503 202671503 Missense_Mutation SNP C T p.A39V no/unknown
CDKL3 5 133640252 133640252 Missense_Mutation SNP T A p.M489L no/unknown
CELF3 1 151680083 151680083 Silent SNP G C p.A224A no/unknown
CEP350 1 179989448 179989448 Missense_Mutation SNP G T p.A847S no/unknown
CHRDL1 0 109922575 109922575 Missense_Mutation SNP C A p.R404I no/unknown
CHRM3 1 240072103 240072103 Missense_Mutation SNP C T p.T451M no/unknown
CHST13 3 126260683 126260683 Silent SNP G A p.L96L no/unknown
CHST4 16 71571433 71571433 Missense_Mutation SNP G T p.A285S no/unknown
CILP2 19 19654609 19654609 Missense_Mutation SNP C T p.R419C no/unknown
CITED1 0 71522697 71522697 Missense_Mutation SNP G A p.A8V no/unknown
CLIP2 7 73795194 73795194 Splice_Site SNP G A no/unknown
CMYA5 5 79028807 79028807 Missense_Mutation SNP G T p.A1407S no/unknown
CNGA1 4 47983454 47983454 De_novo_Start_OutOfFrame SNP G A no/unknown
CNPY4 7 99722500 99722500 Missense_Mutation SNP G C p.E246Q no/unknown
CNTNAP1 17 40839767 40839767 Silent SNP G A p.P358P no/unknown
COL13A1 10 71690164 71690164 Silent SNP C T p.R502R no/unknown
COL18A1 21 46900673 46900673 Missense_Mutation SNP G C p.E919D no/unknown
COL28A1 7 7412650 7412650 Missense_Mutation SNP C A p.D963Y no/unknown
COL6A1 21 47411941 47411941 Silent SNP C T p.D379D no/unknown
COL8A2 1 36564822 36564822 Missense_Mutation SNP G T p.L154I no/unknown
CORO2A 9 100890984 100890984 Nonsense_Mutation SNP C A p.G329* no/unknown
CP 3 148917629 148917629 Silent SNP C T p.V457V no/unknown
CPA5 7 130007316 130007316 Silent SNP C T p.G314G no/unknown
CREB5 7 28547252 28547252 Missense_Mutation SNP C T p.T63M no/unknown
CREB5 7 28848933 28848933 Missense_Mutation SNP C T p.R386W no/unknown
CRTAM 11 122742095 122742095 Missense_Mutation SNP G T p.E390D no/unknown
CSF2RB 22 37319301 37319301 Missense_Mutation SNP A G p.Q31R no/unknown
CSMD1 8 2876058 2876058 Missense_Mutation SNP G A p.S2658F no/unknown
CSMD1 8 3165873 3165873 Missense_Mutation SNP C A p.D1263Y no/unknown
CTAGE8 7 143964621 143964621 Missense_Mutation SNP C G p.E575Q no/unknown
CTCFL 20 56078616 56078616 Missense_Mutation SNP T G p.E572D no/unknown
CUBN 10 16996408 16996408 Missense_Mutation SNP A T p.F1612Y no/unknown
CUBN 10 17153014 17153014 Missense_Mutation SNP T C p.N307D no/unknown
CYP19A1 15 51503052 51503052 Nonsense_Mutation SNP C A p.E489* no/unknown
DCAF4L2 8 88885495 88885495 Missense_Mutation SNP C T p.M235I no/unknown
DCAF8L1 0 27997699 27997699 Missense_Mutation SNP C G p.D585H no/unknown
DCDC1 11 30928099 30928099 Missense_Mutation SNP G C p.I1364M no/unknown
DCDC2C 2 3800183 3800183 Missense_Mutation SNP G C p.E5D no/unknown
DCHS1 11 6644021 6644021 Silent SNP C T p.R2962R no/unknown
DCLK1 13 36700158 36700158 Nonsense_Mutation SNP G T p.C39* no/unknown
DCPS 11 126213246 126213246 Silent SNP C A p.I227I no/unknown
DFNB31 9 117240920 117240920 Silent SNP C A p.L250L no/unknown
DHCR7 11 71155200 71155200 Missense_Mutation SNP C T p.V54I no/unknown
DIRC1 2 189599534 189599534 Silent SNP G T p.P38P no/unknown
DKFZP761J1410 19 11474873 11474873 Missense_Mutation SNP C A p.H328Q no/unknown
DLEC1 3 38136478 38136478 Missense_Mutation SNP G T p.E676D no/unknown
DLG3 0 69665187 69665187 Missense_Mutation SNP G A p.G46S no/unknown
DLG3 0 69665227 69665227 Nonsense_Mutation SNP T A p.L59* no/unknown
DMKN 19 36004004 36004004 Missense_Mutation SNP G T p.A125E no/unknown
DNAH17 17 76498753 76498753 Missense_Mutation SNP A G p.W1701R no/unknown
DNPEP 2 220250751 220250751 Missense_Mutation SNP G C p.L177V no/unknown
DOCK4 7 111400340 111400340 Silent SNP C T p.R1344R no/unknown
DOPEY2 21 37605285 37605286 Frame_Shift_Ins INS – T p.PF845fs no/unknown
DSP 6 7574950 7574950 Silent SNP T G p.V786V no/unknown
DTNBP1 6 15663083 15663083 Silent SNP G C p.R6R no/unknown
DYNC1H1 14 102510237 102510237 Missense_Mutation SNP A G p.Y4180C no/unknown
EHBP1 2 63101479 63101479 Splice_Site SNP A C no/unknown
EHMT2 6 31852260 31852260 Missense_Mutation SNP G A p.R894C no/unknown
ELMO3 16 67237452 67237452 Missense_Mutation SNP C A p.A675E no/unknown
ENTPD2 9 139943514 139943514 Missense_Mutation SNP A G p.V388A no/unknown
EPHB1 3 134670326 134670326 Silent SNP G A p.R79R no/unknown
EPHB6 7 142566843 142566843 Missense_Mutation SNP C A p.S800R no/unknown
ERP29 12 112451274 112451274 Missense_Mutation SNP C T p.A2V no/unknown
ETV3L 1 157069070 157069070 Missense_Mutation SNP C G p.E53D no/unknown
EVI5 1 93091493 93091493 Splice_Site SNP T A no/unknown
EXPH5 11 108384275 108384275 Silent SNP C T p.L653L no/unknown
EYS 6 65622417 65622417 Missense_Mutation SNP T A p.L867F no/unknown
FA2H 16 74753022 74753022 Missense_Mutation SNP C T p.G217E no/unknown
FAM129B 9 130286009 130286009 Nonsense_Mutation SNP G A p.Q180* no/unknown
FAM132B 2 239067752 239067752 Missense_Mutation SNP C T p.P35L no/unknown
FAM13C 10 61122163 61122163 Missense_Mutation SNP T C p.T20A no/unknown
FAM163A 1 179783164 179783164 Missense_Mutation SNP A G p.N115S no/unknown
FAM166A 9 140139605 140139605 Silent SNP C T p.V196V no/unknown
FAM186B 12 49981477 49981477 Missense_Mutation SNP C T p.A865T no/unknown
FAM230A 22 20709627 20709627 Silent SNP C A p.G453G no/unknown
FAM25E 10 46312949 46312949 Missense_Mutation SNP C T p.G30R no/unknown
FAM83B 6 54805941 54805941 Silent SNP T A p.V724V no/unknown
FAM83D 20 37555194 37555194 Missense_Mutation SNP G C p.E67Q no/unknown
FBL 19 40328368 40328368 Missense_Mutation SNP T C p.K222R no/unknown
FBLL1 5 167957281 167957281 Missense_Mutation SNP G A p.V258M no/unknown
FBN3 19 8188866 8188866 Nonsense_Mutation SNP G A p.R920* no/unknown
FCHSD1 5 141023965 141023965 Silent SNP A G p.S561S no/unknown
FKBP15 9 115945120 115945120 Nonsense_Mutation SNP C A p.E614* no/unknown
FLNC 7 128488850 128488850 Missense_Mutation SNP C T p.P1581S no/unknown
FMN2 1 240256828 240256828 Silent SNP C A p.G473G no/unknown
FNDC1 6 159646627 159646627 Silent SNP C T p.I315I no/unknown
FNDC1 6 159653918 159653918 Missense_Mutation SNP G A p.G792S no/unknown
FRK 6 116264272 116264272 Missense_Mutation SNP C T p.R406H no/unknown
FSD1L 9 108275131 108275131 Silent SNP G C p.L313L no/unknown
FSIP2 2 186665051 186665051 Nonsense_Mutation SNP T G p.L3673* no/unknown
FUT6 19 5832208 5832208 Missense_Mutation SNP G A p.P124L no/unknown
GADL1 3 30903174 30903174 Missense_Mutation SNP C G p.D41H no/unknown
GALNT13 2 155099240 155099240 Missense_Mutation SNP G A p.V170M no/unknown
GALNT2 1 230371803 230371803 Missense_Mutation SNP G A p.V140M no/unknown
GALNT9 12 132685717 132685717 Silent SNP G A p.N451N no/unknown
GALNTL6 4 173232764 173232764 Splice_Site SNP G T no/unknown
GAS1 9 89561095 89561095 Silent SNP C T p.T200T no/unknown
GATM 15 45657044 45657044 Missense_Mutation SNP C A p.K331N no/unknown
GBA2 9 35738227 35738227 Splice_Site SNP A C no/unknown
GCN1L1 12 120580723 120580723 Missense_Mutation SNP C T p.G1840R no/unknown
GCSH 16 81129794 81129794 Silent SNP G T p.P30P no/unknown
GFRA3 5 137593412 137593412 Missense_Mutation SNP G C p.T234S no/unknown
GFRAL 6 55223773 55223773 Missense_Mutation SNP C A p.S263R no/unknown
GM2A 5 150639356 150639356 Missense_Mutation SNP A T p.E41V no/unknown
GOLGA6L9 15 82726476 82726476 Nonsense_Mutation SNP G T p.E226* no/unknown
GOLGA6L9 15 83103001 83103001 Nonsense_Mutation SNP G T p.E226* no/unknown
GOLGB1 3 121410445 121410445 Missense_Mutation SNP T A p.E2584V no/unknown
GPR124 8 37693087 37693087 Missense_Mutation SNP G A p.A617T no/unknown
GPR135 14 59931016 59931016 Missense_Mutation SNP C T p.R310H no/unknown
GPR137B 1 236368552 236368553 Splice_Site INS – AAGA no/unknown
GPR98 5 89938563 89938563 Missense_Mutation SNP G A p.G784E no/unknown
GPRIN2 10 46999948 46999948 Silent SNP G A p.A356A no/unknown
GRB14 2 165349691 165349691 Splice_Site SNP A G p.V493A no/unknown
GRIN2D 19 48902012 48902012 Silent SNP G A p.S121S no/unknown
GRIP1 12 66770797 66770797 Splice_Site SNP C G p.L874F no/unknown
GRIPAP1 0 48838243 48838243 Silent SNP G C p.L547L no/unknown
GRK1 13 114438259 114438259 Missense_Mutation SNP C A p.Q539K no/unknown
GRM8 7 126173583 126173583 Missense_Mutation SNP C T p.G618E no/unknown
GTPBP2 6 43589352 43589352 Nonstop_Mutation SNP C A p.*603L no/unknown
HEATR1 1 236760260 236760260 Missense_Mutation SNP G A p.P207L no/unknown
HECW1 7 43484520 43484520 Silent SNP C T p.D583D no/unknown
HEPACAM 11 124794730 124794730 Silent SNP C A p.L107L no/unknown
HEPACAM2 7 92844905 92844905 Missense_Mutation SNP C A p.G175V no/unknown
HHIP 4 145658930 145658930 Missense_Mutation SNP G T p.A642S no/unknown
HIPK4 19 40887037 40887037 Silent SNP C A p.S287S no/unknown
HMGXB3 5 149425137 149425137 Missense_Mutation SNP A G p.I947V no/unknown
HMMR 5 162902647 162902647 Missense_Mutation SNP G A p.E412K no/unknown
HNRNPA1L2 13 53216702 53216702 Frame_Shift_Del DEL A – p.T26fs no/unknown
HRNR 1 152192922 152192922 Missense_Mutation SNP G A p.R395C no/unknown
HSPG2 1 22211065 22211065 Missense_Mutation SNP C G p.R537P no/unknown
HTR4 5 147928310 147928310 Missense_Mutation SNP A G p.F92L no/unknown
HTRA3 4 8271753 8271753 Missense_Mutation SNP C A p.P20T no/unknown
HTRA4 8 38832079 38832079 Silent SNP C T p.R99R no/unknown
HUWE1 0 53587255 53587255 Missense_Mutation SNP C T p.G2544R no/unknown
IBTK 6 82924033 82924033 Nonsense_Mutation SNP A T p.C705* no/unknown
IFI44L 1 79102741 79102741 Missense_Mutation SNP C T p.P301S no/unknown
IGFN1 1 201174242 201174242 Nonsense_Mutation SNP G T p.E317* no/unknown
IGFN1 1 201174330 201174330 Missense_Mutation SNP G A p.R346Q no/unknown
IGSF22 11 18738453 18738453 Silent SNP G T p.P356P no/unknown
IGSF8 1 160062922 160062922 Silent SNP G T p.G368G no/unknown
IKBIP 12 99007387 99007387 Missense_Mutation SNP T C p.I343M no/unknown
IL17D 13 21278252 21278252 Missense_Mutation SNP C A p.L38I no/unknown
IL5RA 3 3133939 3133939 Silent SNP G T p.L321L no/unknown
IMMP2L 7 111127310 111127310 Missense_Mutation SNP C A p.D75Y no/unknown
IMMT 2 86371994 86371994 Silent SNP A C p.V558V no/unknown
INTS9 8 28654151 28654151 Nonsense_Mutation SNP T A p.K256* no/unknown
IQCJ-SCHIP1 3 159605683 159605683 Missense_Mutation SNP G A p.V355I no/unknown
ISOC1 5 128430655 128430655 Missense_Mutation SNP C G p.R66G no/unknown
ITGBL1 13 102366859 102366859 Missense_Mutation SNP G T p.D451Y no/unknown
ITIH2 10 7745411 7745411 Missense_Mutation SNP C A p.T5K no/unknown
ITPR2 12 26878610 26878610 Silent SNP G A p.T84T no/unknown
JMJD1C 10 64966832 64966840 In_Frame_Del DEL CAGAGTTTG – p.ANS1530del no/unknown
KCND3 1 112329584 112329584 Silent SNP A G p.D417D no/unknown
KCNG4 16 84256321 84256321 Silent SNP C T p.S354S no/unknown
KCNH7 2 163230124 163230124 Silent SNP C T p.L1060L no/unknown
KCNH7 2 163256755 163256755 Missense_Mutation SNP A G p.F784S no/unknown
KIAA0355 19 34843602 34843602 Silent SNP C T p.S985S no/unknown
KIAA1024 15 79749650 79749650 Silent SNP T C p.N387N no/unknown
KIAA1324L 7 86542399 86542399 Missense_Mutation SNP C A p.C618F no/unknown
KIAA1429 8 95531571 95531571 Missense_Mutation SNP G T p.L719I no/unknown
KIAA1984 9 139699879 139699879 Silent SNP C T p.V306V no/unknown
KIF18B 17 43008995 43008995 Missense_Mutation SNP C G p.E498Q no/unknown
KIF21A 12 39730934 39730934 Silent SNP C T p.E794E no/unknown
KIF27 9 86530207 86530207 Splice_Site SNP A G no/unknown
KIF5A 12 57944168 57944168 Silent SNP C T p.D38D no/unknown
KIN 10 7822257 7822257 Missense_Mutation SNP C T p.D75N no/unknown
KIRREL 1 158047900 158047900 Missense_Mutation SNP C T p.R108C no/unknown
KLHL14 18 30267125 30267125 Missense_Mutation SNP G T p.Q411K no/unknown
KLHL7 7 23205499 23205499 Silent SNP C T p.D373D no/unknown
KLKB1 4 187172405 187172405 Missense_Mutation SNP G A p.G264D no/unknown
KMT2E 7 104681428 104681428 Missense_Mutation SNP A G p.D10G no/unknown
KPRP 1 152732430 152732430 Silent SNP C T p.C122C no/unknown
KPRP 1 152733370 152733370 Missense_Mutation SNP C A p.P436T no/unknown
KRT33B 17 39522854 39522854 Silent SNP C G p.R152R no/unknown
KRT7 12 52636851 52636851 Missense_Mutation SNP G A p.R305Q no/unknown
KRTAP10-6 21 46011683 46011683 Missense_Mutation SNP C A p.C228F no/unknown
KRTAP21-1 21 32127496 32127497 Frame_Shift_Ins INS – T p.Y67fs no/unknown
KRTAP29-1 17 39458741 39458741 Silent SNP G A p.C121C no/unknown
KRTAP4-7 17 39240619 39240619 Missense_Mutation SNP G C p.C54S no/unknown
KRTAP4-9 17 39261921 39261921 Missense_Mutation SNP G C p.C94S no/unknown
LAD1 1 201356276 201356276 Silent SNP G T p.P71P no/unknown
LAMA5 20 60912768 60912768 Missense_Mutation SNP G C p.A681G no/unknown
LCE2A 1 152671623 152671623 Missense_Mutation SNP C A p.H82Q no/unknown
LDLR 19 11216114 11216114 Missense_Mutation SNP G A p.D178N no/unknown
LGALS3BP 17 76967750 76967750 Missense_Mutation SNP T G p.T556P no/unknown
LGMN 14 93182554 93182554 Missense_Mutation SNP G T p.Q111K no/unknown
LHX3 9 139091534 139091534 Silent SNP G T p.A148A no/unknown
LINGO1 15 77907909 77907909 Missense_Mutation SNP C T p.A114T no/unknown
LIPF 10 90427076 90427076 Missense_Mutation SNP G C p.A8P no/unknown
LL22NC03-75H12.2 22 47859105 47859105 Missense_Mutation SNP C A p.G28V no/unknown
LPPR4 1 99771647 99771647 Missense_Mutation SNP G A p.R458Q no/unknown
LRP1 12 57593066 57593066 Nonsense_Mutation SNP G T p.E3250* no/unknown
LRTOMT 11 71804563 71804563 Missense_Mutation SNP G C p.R35T no/unknown
MAB21L1 13 36050150 36050150 Silent SNP C A p.L42L no/unknown
MACROD2 20 14066309 14066309 Missense_Mutation SNP C G p.T69S no/unknown
MAGI2 7 77807378 77807378 Nonsense_Mutation SNP C A p.E785* no/unknown
MAP2K7 19 7976421 7976421 Missense_Mutation SNP A C p.H346P no/unknown
MAP7D3 0 135310880 135310880 Silent SNP G C p.A596A no/unknown
MAPK8IP1 11 45924654 45924654 Missense_Mutation SNP G T p.D446Y no/unknown
MBD6 12 57920810 57920810 Silent SNP C T p.L628L no/unknown
MBIP 14 36780812 36780812 Missense_Mutation SNP G T p.Q253K no/unknown
MCF2L2 3 183035939 183035939 Silent SNP G A p.L224L no/unknown
MCM6 2 136620236 136620236 Silent SNP T A p.R387R no/unknown
METTL13 1 171753419 171753419 Silent SNP C A p.R231R no/unknown
METTL22 16 8736058 8736058 Missense_Mutation SNP G A p.A301T no/unknown
MICAL3 22 18374350 18374350 Missense_Mutation SNP G A p.T532I no/unknown
MICU3 8 16944500 16944500 Missense_Mutation SNP G A p.E269K no/unknown
MID2 0 107159290 107159290 Missense_Mutation SNP G A p.A378T no/unknown
MKS1 17 56293513 56293513 Missense_Mutation SNP C T p.G118D no/unknown
MROH7 1 55139437 55139437 Missense_Mutation SNP G A p.V587I no/unknown
MRPL44 2 224828616 224828616 Silent SNP C T p.T264T no/unknown
MSL3 0 11786736 11786736 Missense_Mutation SNP C G p.P406A no/unknown
MTA3 2 42871278 42871278 Missense_Mutation SNP C G p.F131L no/unknown
MT-CO1 0 5906 5906 Start_Codon_SNP SNP G A p.M1I no/unknown
MT-CO3 0 9667 9667 Missense_Mutation SNP A G p.N154S no/unknown
MT-CYB 0 14793 14793 Missense_Mutation SNP A G p.H16R no/unknown
MT-CYB 0 15133 15133 Missense_Mutation SNP A G p.I129M no/unknown
MT-CYB 0 15218 15218 Missense_Mutation SNP A G p.T158A no/unknown
MT-CYB 0 15883 15883 Nonsense_Mutation SNP G A p.W379* no/unknown
MTFMT 15 65321944 65321944 Missense_Mutation SNP A T p.V3E no/unknown
MT-ND3 0 10371 10371 Missense_Mutation SNP G A p.E105K no/unknown
MT-ND5 0 13711 13711 Missense_Mutation SNP G A p.A459T no/unknown
MTUS2 13 29933551 29933551 Missense_Mutation SNP A C p.K1030Q no/unknown
MTUS2 13 30054388 30054388 Missense_Mutation SNP G C p.E75Q no/unknown
MTX2 2 177194111 177194111 Missense_Mutation SNP G T p.R167L no/unknown
MYBPC2 19 50949204 50949204 Missense_Mutation SNP G T p.G401W no/unknown
MYBPC2 19 50944162 50944163 In_Frame_Ins INS – AGG p.200_201insE no/unknown
MYBPC3 11 47354846 47354846 Missense_Mutation SNP C T p.A1077T no/unknown
MYCBP2 13 77670484 77670484 Missense_Mutation SNP T G p.K3268T no/unknown
MYCBP2 13 77765922 77765922 Missense_Mutation SNP T C p.E1283G no/unknown
MYH14 19 50785099 50785099 Splice_Site SNP G C p.Q1472H no/unknown
MZT2A 2 132249832 132249832 Silent SNP G A p.L40L no/unknown
N4BP2L2 13 33109927 33109927 Missense_Mutation SNP G A p.S413F no/unknown
NAV1 1 201789001 201789001 Missense_Mutation SNP T C p.Y1859H no/unknown
NBAS 2 15359058 15359058 Missense_Mutation SNP A C p.W2091G no/unknown
NBAS 2 15607823 15607823 Missense_Mutation SNP C G p.K661N no/unknown
NCKAP5 2 133541645 133541645 Silent SNP A G p.D913D no/unknown
NDRG3 20 35299757 35299757 Missense_Mutation SNP T C p.H192R no/unknown
NDST3 4 119059225 119059225 Missense_Mutation SNP C T p.T414M no/unknown
NDUFB7 19 14682753 14682753 Silent SNP C T p.L20L no/unknown
NEO1 15 73547132 73547132 Missense_Mutation SNP C T p.T685I no/unknown
NFKBIA 14 35872941 35872941 Silent SNP C T p.V97V no/unknown
NINL 20 25457514 25457514 Missense_Mutation SNP C T p.E805K no/unknown
NMUR1 2 232392860 232392860 Missense_Mutation SNP C T p.G291D no/unknown
NOL4 18 31709961 31709961 Silent SNP C T p.K96K no/unknown
NOLC1 10 103921391 103921391 Missense_Mutation SNP C T p.T607I no/unknown
NOTCH4 6 32169019 32169019 Missense_Mutation SNP C G p.M1338I no/unknown
NOXO1 16 2030999 2030999 Missense_Mutation SNP A G p.W30R no/unknown
NPAS3 14 34247729 34247729 Missense_Mutation SNP C G p.H368Q no/unknown
NR1D1 17 38252250 38252250 Missense_Mutation SNP C G p.S232T no/unknown
NR1H4 12 100930813 100930813 Missense_Mutation SNP A C p.K317Q no/unknown
NR3C1 5 142662189 142662189 Missense_Mutation SNP T A p.S709C no/unknown
NRG2 5 139422477 139422477 Missense_Mutation SNP C T p.A60T no/unknown
NRP1 10 33545339 33545339 Missense_Mutation SNP G A p.S240L no/unknown
NUPL1 13 25875985 25875985 Missense_Mutation SNP G C p.G25A no/unknown
NUSAP1 15 41650370 41650370 Missense_Mutation SNP C T p.H192Y no/unknown
OBSCN 1 228403265 228403265 Splice_Site SNP C T p.A610A no/unknown
OGT 0 70779480 70779480 Nonsense_Mutation SNP C T p.R602* no/unknown
OPRK1 8 54141878 54141878 Silent SNP A G p.D374D no/unknown
OR10G6 11 123865119 123865119 Silent SNP C T p.P250P no/unknown
OR1K1 9 125563288 125563288 Missense_Mutation SNP G A p.R296H no/unknown
OR1L3 9 125437681 125437681 Silent SNP C A p.T91T no/unknown
OR2D3 11 6942454 6942454 Silent SNP C T p.P74P no/unknown
OR4K14 14 20482665 20482665 Missense_Mutation SNP C G p.A230P no/unknown
OR4M1 14 20248583 20248583 Missense_Mutation SNP C A p.F34L no/unknown
OR4N4 15 22382666 22382666 Missense_Mutation SNP A C p.N65T no/unknown
OR4S2 11 55418514 55418514 Silent SNP G T p.L45L no/unknown
OR51B2 11 5345299 5345299 Missense_Mutation SNP G C p.P77A no/unknown
OR51I1 11 5462561 5462561 Missense_Mutation SNP A G p.Y62H no/unknown
OR52N1 11 5809954 5809954 Silent SNP G A p.F31F no/unknown
OR5M8 11 56258446 56258446 Missense_Mutation SNP C T p.R134K no/unknown
OR6C6 12 55688288 55688288 Missense_Mutation SNP C T p.M243I no/unknown
OR6C70 12 55863123 55863123 Missense_Mutation SNP G T p.A267D no/unknown
OR8D4 11 123778002 123778002 Missense_Mutation SNP G C p.L288F no/unknown
OR8K5 11 55927451 55927451 Silent SNP G A p.L115L no/unknown
OSBPL7 17 45894682 45894682 Silent SNP G A p.L214L no/unknown
OSER1 20 42825844 42825844 Missense_Mutation SNP C T p.A243T no/unknown
OTOG 11 17577384 17577386 In_Frame_Del DEL TCT – p.F214del no/unknown
OXLD1 17 79633577 79633577 Silent SNP G T p.R11R no/unknown
PABPN1L 16 88932880 88932880 Silent SNP C T p.G45G no/unknown
PAN3 13 28841279 28841279 Nonsense_Mutation SNP A T p.K541* no/unknown
PAQR7 1 26190109 26190109 Silent SNP A G p.N74N no/unknown
PARP1 1 226566842 226566842 Splice_Site SNP C A no/unknown
PASK 2 242079344 242079344 Missense_Mutation SNP G A p.H186Y no/unknown
PATE2 11 125647323 125647323 Missense_Mutation SNP A G p.I99T no/unknown
PCDHA11 5 140249450 140249450 Silent SNP T C p.N254N no/unknown
PCDHB3 5 140482041 140482041 Missense_Mutation SNP C T p.S603L no/unknown
PCDHB5 5 140516597 140516597 Silent SNP G A p.E527E no/unknown
PCDHGA11 5 140800862 140800862 Missense_Mutation SNP C T p.T23M no/unknown
PCLO 7 82595805 82595805 Splice_Site SNP T A no/unknown
PDZRN4 12 41900478 41900478 Missense_Mutation SNP C T p.P355L no/unknown
PGBD3 10 50723489 50723489 Nonsense_Mutation SNP G A p.Q558* no/unknown
PGR 11 100999142 100999142 Silent SNP C T p.E220E no/unknown
PHF1 6 33381868 33381868 Missense_Mutation SNP G A p.R245Q no/unknown
PHF10 6 170112551 170112551 Silent SNP G A p.D296D no/unknown
PHF15 5 133895562 133895562 Silent SNP G A p.P118P no/unknown
PI4KB 1 151288182 151288182 Missense_Mutation SNP G A p.P259L no/unknown
PIAS3 1 145585383 145585383 Missense_Mutation SNP C G p.L550V no/unknown
PIP5K1B 9 71555568 71555568 Missense_Mutation SNP G A p.G455E no/unknown
PJA2 5 108714331 108714331 Missense_Mutation SNP G A p.A286V no/unknown
PLCH1 3 155199984 155199984 Silent SNP G T p.T1285T no/unknown
PLEKHA8 7 30118339 30118339 Missense_Mutation SNP A G p.K499R no/unknown
PLIN5 19 4525767 4525767 Missense_Mutation SNP G A p.R200C no/unknown
PLP1 0 103041403 103041403 Silent SNP C T p.A67A no/unknown
POLA1 0 24717586 24717587 Frame_Shift_Ins INS – A p.E24fs no/unknown
POLR2B 4 57883229 57883229 Missense_Mutation SNP G A p.S659N no/unknown
POM121 7 72413157 72413157 Silent SNP C T p.T875T no/unknown
POM121C 7 75051705 75051705 Silent SNP G A p.T852T no/unknown
POM121L12 7 53103830 53103830 Missense_Mutation SNP C A p.Q156K no/unknown
POMT2 14 77745177 77745177 Missense_Mutation SNP C G p.V643L no/unknown
PORCN 0 48374468 48374468 Silent SNP T C p.A369A no/unknown
PPAP2A 5 54763919 54763919 Missense_Mutation SNP A G p.I90T no/unknown
PPM1G 2 27605022 27605022 Missense_Mutation SNP G T p.L469I no/unknown
PPP1R3A 7 113519925 113519925 Missense_Mutation SNP T C p.T408A no/unknown
PQBP1 0 48755597 48755597 De_novo_Start_OutOfFrame SNP G A no/unknown
PRAMEF12 1 12836064 12836064 Silent SNP C T p.F222F no/unknown
PRB4 12 11461415 11461415 Missense_Mutation SNP G C p.Q168E no/unknown
PRKCA 17 64800149 64800149 Silent SNP A G p.A671A no/unknown
PRKDC 8 48815175 48815175 Frame_Shift_Del DEL T – p.R1075fs no/unknown
PRMT5 14 23390212 23390212 Silent SNP G A p.C605C no/unknown
PROB1 5 138730317 138730317 Missense_Mutation SNP C T p.A152T no/unknown
PRPS1L1 7 18066882 18066882 Missense_Mutation SNP G T p.A175D no/unknown
PRR26 10 696809 696809 Missense_Mutation SNP C A p.T101K no/unknown
PRTG 15 55972694 55972694 Missense_Mutation SNP C T p.R270H no/unknown
PSG2 19 43586688 43586688 Missense_Mutation SNP G A p.H12Y no/unknown
PSG3 19 43244491 43244491 Missense_Mutation SNP T G p.K16Q no/unknown
PSPN 19 6375739 6375739 Missense_Mutation SNP A G p.V41A no/unknown
PTGIS 20 48130879 48130879 Silent SNP A T p.P303P no/unknown
PTPN5 11 18762186 18762186 Missense_Mutation SNP C A p.K293N no/unknown
PTPRN2 7 157475462 157475462 Silent SNP C G p.S652S no/unknown
PTPRS 19 5220315 5220315 Missense_Mutation SNP A C p.F1169V no/unknown
PVRL2 19 45381597 45381598 In_Frame_Ins INS – GAG p.391_392insR no/unknown
RAB2B 14 21936564 21936564 Missense_Mutation SNP C T p.R105Q no/unknown
RAPH1 2 204305468 204305469 Frame_Shift_Ins INS – T p.K815fs no/unknown
RBMXL3 0 114426422 114426422 Silent SNP C A p.S806S no/unknown
RBP1 3 139258650 139258650 De_novo_Start_OutOfFrame SNP G A no/unknown
RBP3 10 48387849 48387849 Missense_Mutation SNP C T p.R1010H no/unknown
RDX 11 110102657 110102657 Missense_Mutation SNP C G p.K563N no/unknown
RELN 7 103155709 103155709 Missense_Mutation SNP T C p.Q2681R no/unknown
RELN 7 103155710 103155710 Missense_Mutation SNP G T p.Q2681K no/unknown
REPS2 0 17072976 17072976 Silent SNP G A p.E339E no/unknown
RIOK1 6 7414514 7414514 Missense_Mutation SNP C G p.S496C no/unknown
RLF 1 40705666 40705666 Silent SNP C T p.Y1764Y no/unknown
RNF165 18 44030706 44030706 Missense_Mutation SNP C T p.R254W no/unknown
RNF175 4 154641438 154641438 Silent SNP G C p.S176S no/unknown
RNF20 9 104303177 104303177 Missense_Mutation SNP G A p.R183Q no/unknown
ROR2 9 94493220 94493220 Silent SNP G C p.R385R no/unknown
RPGR 0 38146423 38146423 Missense_Mutation SNP T A p.E815V no/unknown
RPGRIP1L 16 53656215 53656215 Silent SNP G A p.C1116C no/unknown
RPL3L 16 2004078 2004078 Silent SNP G A p.H25H no/unknown
RPS6KA2 6 166827405 166827405 Missense_Mutation SNP C G p.K651N no/unknown
RRBP1 20 17640044 17640044 Missense_Mutation SNP T G p.K370T no/unknown
RSPH10B 7 5967965 5967965 Missense_Mutation SNP A G p.M765T no/unknown
RTTN 18 67715215 67715215 Missense_Mutation SNP T C p.I1845V no/unknown
RUNX2 6 45399677 45399677 Missense_Mutation SNP G T p.E167D no/unknown
SART3 12 108931887 108931887 Nonsense_Mutation SNP G T p.Y385* no/unknown
SCN10A 3 38739485 38739485 Silent SNP G A p.D1742D no/unknown
SCN2A 2 166170488 166170489 Frame_Shift_Ins INS – T p.L419fs no/unknown
SCN5A 3 38627214 38627214 Missense_Mutation SNP A T p.F919I no/unknown
SCNN1G 16 23197815 23197815 Missense_Mutation SNP G A p.V75I no/unknown
SEC16A 9 139369234 139369234 Missense_Mutation SNP C A p.R767L no/unknown
SERPINA10 14 94752523 94752523 Missense_Mutation SNP C G p.M355I no/unknown
SERPINA3 14 95081419 95081420 Frame_Shift_Ins INS – AGGTG p.A215fs no/unknown
SERPINB4 18 61305254 61305254 Missense_Mutation SNP T G p.E291A no/unknown
SERPINB5 18 61160294 61160294 Nonsense_Mutation SNP C A p.S178* no/unknown
SERPINE2 2 224845093 224845093 Missense_Mutation SNP G T p.S337Y no/unknown
SGCD 5 156074512 156074512 Missense_Mutation SNP C T p.P180S no/unknown
SGK223 8 8176714 8176714 Silent SNP C T p.P1057P no/unknown
SH2D4A 8 19171555 19171555 De_novo_Start_OutOfFrame SNP G A no/unknown
SH2D5 1 21050624 21050624 Missense_Mutation SNP G A p.R251C no/unknown
SHROOM2 0 9862697 9862697 Missense_Mutation SNP G A p.R250Q no/unknown
SIGLEC15 18 43417804 43417804 Missense_Mutation SNP G T p.A147S no/unknown
SIN3A 15 75692416 75692416 Missense_Mutation SNP C T p.E607K no/unknown
SIPA1L2 1 232649913 232649913 Silent SNP C T p.E391E no/unknown
SKOR1 15 68120004 68120004 Missense_Mutation SNP G T p.R613L no/unknown
SLC1A1 9 4567692 4567692 Silent SNP G A p.V169V no/unknown
SLC1A7 1 53569176 53569176 Missense_Mutation SNP C A p.R180L no/unknown
SLC22A10 11 63078479 63078479 Splice_Site DEL A – p.Q533fs no/unknown
SLC22A31 16 89266179 89266179 Missense_Mutation SNP C T p.V134M no/unknown
SLC22A4 5 131657959 131657959 Silent SNP G C p.L245L no/unknown
SLC25A27 6 46638884 46638887 Frame_Shift_Del DEL GACT – p.ST273fs no/unknown
SLC30A2 1 26371527 26371527 Missense_Mutation SNP A T p.S78T no/unknown
SLC44A5 1 75684281 75684281 Missense_Mutation SNP C G p.G475R no/unknown
SLCO1B3 12 21013967 21013967 Nonsense_Mutation SNP G T p.E126* no/unknown
SLIT3 5 168123363 168123363 Missense_Mutation SNP C T p.E1006K no/unknown
SLITRK1 13 84453682 84453682 Missense_Mutation SNP G C p.A654G no/unknown
SLITRK5 13 88328475 88328475 Missense_Mutation SNP G T p.V278L no/unknown
SORD 15 45364597 45364597 Missense_Mutation SNP G A p.R290Q no/unknown
SOX6 11 16133450 16133450 Missense_Mutation SNP G T p.P266Q no/unknown
SP2 17 46002449 46002449 Missense_Mutation SNP G T p.G513W no/unknown
SPEF2 5 35654728 35654728 Missense_Mutation SNP T C p.I293T no/unknown
SPTB 14 65260222 65260222 Missense_Mutation SNP T G p.E720A no/unknown
SPTBN4 19 41073859 41073859 Silent SNP C T p.A2209A no/unknown
SRSF4 1 29475299 29475299 Missense_Mutation SNP T C p.S370G no/unknown
SSC5D 19 56002157 56002157 Missense_Mutation SNP C G p.S202C no/unknown
SSH1 12 109182025 109182025 Silent SNP C G p.R963R no/unknown
SSTR4 20 23016128 23016128 Missense_Mutation SNP C T p.A3V no/unknown
SSU72 1 1477480 1477480 Missense_Mutation SNP C T p.G184D no/unknown
STAT2 12 56749523 56749524 Frame_Shift_Ins INS – T p.R117fs no/unknown
STK17A 7 43635518 43635518 Silent SNP G T p.V75V no/unknown
STT3B 3 31667520 31667520 Missense_Mutation SNP G C p.L658F no/unknown
SUMF1 3 4494651 4494651 Missense_Mutation SNP C A p.R118I no/unknown
SUN1 7 883013 883013 Missense_Mutation SNP G A p.V172M no/unknown
SYNPO2 4 119951959 119951959 Missense_Mutation SNP C G p.P677A no/unknown
SZT2 1 43892996 43892996 Missense_Mutation SNP G C p.E1103Q no/unknown
TBX22 0 79279620 79279620 Missense_Mutation SNP C T p.H139Y no/unknown
TCTEX1D1 1 67242077 67242077 Silent SNP C T p.T109T no/unknown
TET3 2 74328187 74328187 Missense_Mutation SNP G C p.E1289D no/unknown
TEX15 8 30703515 30703516 Frame_Shift_Ins INS – T p.A1007fs no/unknown
TF 3 133467338 133467338 Silent SNP C T p.R42R no/unknown
TGIF2 20 35219705 35219705 Missense_Mutation SNP C A p.F195L no/unknown
TGOLN2 2 85553718 85553718 Missense_Mutation SNP G C p.S379R no/unknown
THOP1 19 2790418 2790418 Splice_Site SNP G A no/unknown
THSD7B 2 138208532 138208532 Missense_Mutation SNP G T p.W1026L no/unknown
TICAM2 5 114916755 114916755 Nonsense_Mutation SNP C A p.E67* no/unknown
TIMD4 5 156381740 156381740 Missense_Mutation SNP G A p.T29M no/unknown
TIMD4 5 156378689 156378689 Silent SNP G C p.V171V no/unknown
TINAG 6 54173549 54173549 Missense_Mutation SNP T A p.D67E no/unknown
TINAG 6 54173564 54173564 Silent SNP T A p.T72T no/unknown
TJP3 19 3748037 3748037 Missense_Mutation SNP C A p.S856R no/unknown
TJP3 19 3748042 3748042 Missense_Mutation SNP G T p.R858M no/unknown
TLL1 4 166910609 166910609 Silent SNP G A p.T82T no/unknown
TLN2 15 63000814 63000814 Silent SNP C T p.T762T no/unknown
TMCC2 1 205238706 205238706 Missense_Mutation SNP G A p.R459Q no/unknown
TMEM151A 11 66062506 66062506 Silent SNP C T p.D263D no/unknown
TMEM209 7 129841781 129841781 Missense_Mutation SNP C G p.G161A no/unknown
TMEM217 6 37186318 37186318 Silent SNP A G p.I163I no/unknown
TMEM247 2 46707733 46707733 Missense_Mutation SNP G A p.E103K no/unknown
TMEM63C 14 77718133 77718133 Splice_Site SNP T G p.G680G no/unknown
TOPAZ1 3 44285427 44285437 Frame_Shift_Del DEL GAATTGAAGTT – p.ELKL477fs no/unknown
TRAF4 17 27075170 27075170 Missense_Mutation SNP T G p.C146G no/unknown
TRDN 6 123957907 123957907 Missense_Mutation SNP G A p.T5I no/unknown
TRIM21 11 4407478 4407478 Silent SNP G T p.S256S no/unknown
TRPA1 8 72973888 72973888 Missense_Mutation SNP C T p.D306N no/unknown
TRPC6 11 101347073 101347073 Missense_Mutation SNP G A p.T568M no/unknown
TRPV6 7 142569515 142569515 Missense_Mutation SNP C T p.R708H no/unknown
TSPAN11 12 31135508 31135508 Missense_Mutation SNP C A p.H166Q no/unknown
TTBK1 6 43223317 43223317 Missense_Mutation SNP T A p.S224T no/unknown
TTN 2 179442057 179442057 Missense_Mutation SNP G T p.S21361Y no/unknown
TTN 2 179497029 179497029 Missense_Mutation SNP T A p.K12890M no/unknown
TTN 2 179583661 179583661 Missense_Mutation SNP A C p.V7772G no/unknown
TTN 2 179542932 179542932 Missense_Mutation SNP G T p.P10988Q no/unknown
TUBA1A 12 49580425 49580425 Silent SNP T A p.A65A no/unknown
TUBA1A 12 49580437 49580437 Silent SNP A G p.H61H no/unknown
TUT1 11 62359470 62359470 De_novo_Start_OutOfFrame SNP C A no/unknown
TXNDC5 6 7884702 7884702 Missense_Mutation SNP G C p.L356V no/unknown
UBAC1 9 138847262 138847262 Splice_Site SNP C A no/unknown
UBAP1L 15 65394500 65394500 Silent SNP G T p.R215R no/unknown
UBQLN2 0 56590341 56590341 Missense_Mutation SNP G A p.R12H no/unknown
UBR4 1 19481493 19481493 Missense_Mutation SNP T C p.Y2126C no/unknown
UHRF1BP1 6 34826123 34826124 Frame_Shift_Ins INS – T p.L664fs no/unknown
UNC5D 8 35406883 35406883 Missense_Mutation SNP G T p.E59D no/unknown
UNC80 2 210742775 210742775 Missense_Mutation SNP T C p.L1315P no/unknown
USP32 17 58258973 58258973 Silent SNP C A p.L1420L no/unknown
USP36 17 76823357 76823357 Missense_Mutation SNP A G p.M220T no/unknown
USP38 4 144130718 144130718 Splice_Site SNP T G p.F469V no/unknown
UVSSA 4 1348599 1348599 Silent SNP G T p.R337R no/unknown
VANGL2 1 160394991 160394991 Silent SNP G T p.V463V no/unknown
VPS13C 15 62258304 62258304 Missense_Mutation SNP C T p.G1010E no/unknown
VPS51 11 64876790 64876790 Silent SNP C T p.I494I no/unknown
VRTN 14 74824071 74824071 Silent SNP C T p.N195N no/unknown
VSIG10 12 118520221 118520221 Missense_Mutation SNP C A p.Q125H no/unknown
VSIG10 12 118520222 118520222 Missense_Mutation SNP T A p.Q125L no/unknown
VWA8 13 42161651 42161651 Missense_Mutation SNP G T p.F1756L no/unknown
VWA8 13 42293762 42293762 Silent SNP G A p.I1027I no/unknown
VWCE 11 61048568 61048568 Silent SNP G A p.P309P no/unknown
WASF1 6 110429782 110429782 Missense_Mutation SNP G A p.T124M no/unknown
WBSCR17 7 71134981 71134981 Missense_Mutation SNP G T p.V431F no/unknown
WDFY3 4 85611779 85611779 Silent SNP C T p.Q3081Q no/unknown
WDFY4 10 49951547 49951547 Missense_Mutation SNP A T p.S805C no/unknown
WDR82 3 52294451 52294451 Missense_Mutation SNP C T p.G165S no/unknown
WDR87 19 38377993 38377993 Silent SNP G A p.S2067S no/unknown
WIPI2 7 5265477 5265477 Missense_Mutation SNP C G p.A255G no/unknown
WIZ 19 15535001 15535001 Missense_Mutation SNP T C p.K1597E no/unknown
WNK4 17 40933029 40933029 Missense_Mutation SNP C A p.P105T no/unknown
WWC3 0 10046908 10046908 Missense_Mutation SNP G T p.R97L no/unknown
XPOT 12 64829416 64829416 Nonsense_Mutation SNP G T p.E899* no/unknown
ZBTB41 1 197169384 197169384 Missense_Mutation SNP G T p.L74I no/unknown
ZDHHC16 10 99211920 99211920 Missense_Mutation SNP T C p.I106T no/unknown
ZFYVE27 10 99498271 99498271 Silent SNP C T p.L13L no/unknown
ZIC1 3 147128691 147128691 Silent SNP G A p.P264P no/unknown
ZNF121 19 9676964 9676964 Silent SNP A G p.F275F no/unknown
ZNF182 0 47835710 47835710 Silent SNP A G p.H592H no/unknown
ZNF267 16 31895923 31895923 Missense_Mutation SNP C G p.N36K no/unknown
ZNF320 19 53385152 53385152 Missense_Mutation SNP C G p.R76T no/unknown
ZNF423 16 49672219 49672219 Missense_Mutation SNP C T p.V282M no/unknown
ZNF513 2 27601345 27601345 Missense_Mutation SNP C T p.R263Q no/unknown
ZNF532 18 56585856 56585856 Missense_Mutation SNP G T p.D113Y no/unknown
ZNF541 19 48048232 48048232 Missense_Mutation SNP C A p.E518D no/unknown
ZNF548 19 57910676 57910676 Missense_Mutation SNP G T p.D341Y no/unknown
ZNF589 3 48302363 48302363 Missense_Mutation SNP A C p.S53R no/unknown
ZNF609 15 64967246 64967247 Frame_Shift_Ins INS – A p.K732fs no/unknown
ZNF658 9 40774161 40774161 Nonsense_Mutation SNP G A p.Q372* no/unknown
ZNF713 7 56007028 56007028 Missense_Mutation SNP G T p.D208Y no/unknown
ZNF799 19 12502405 12502405 Silent SNP T C p.L269L no/unknown
ZNF83 19 53120813 53120814 De_novo_Start_OutOfFrame INS – TCA no/unknown
ZNF85 19 21132605 21132605 Missense_Mutation SNP A G p.K429E no/unknown
ZNF91 19 23544215 23544215 Missense_Mutation SNP T A p.E522D no/unknown
ZNF99 19 22941581 22941581 Missense_Mutation SNP G A p.A377V no/unknown

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