Shop

PIK3CA-E545G 50 % AF FFPE Reference Standard curl

PIK3CA-E545G 50 % 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.

Request Product
SKU: SID-000106 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:

2287 krebsrelevante Mutationen in 116 Genen. Liste der mutierten Gene mit spezifischen Mutationen im Anhang unter Dokumente.

Getestet für PIK3CA-E545G (HGVS: c.1634A>G) mit ddPCR zur präzisen Bestimmung der Allelfrequenz.

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

Allelfrequenz: 50%

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: 00074

Lot: 00083

Lot: 00084

Lot: 00189

Lot: 00190

Gebrauchsanweisung

Sicherheitsdatenblatt

Zusätzlich enthaltene Mutationen

Zusätzliche Mutationen:

  • in 2633 Genen
  • davon 116 tumorrelevante Gene
  • 3421 Mutationen gesamt
  • 2435 Nonsens Mutationen

Übersicht der tumorrelevanten Gene

A1CF CHD4 FGFR3 MSI2 PLAG1 SFRP4 VAV1
ABL1 CIC FGFR4 MTOR PML SH2B3 WNK2
AFF4 CNTRL FIP1L1 MUC16 POLE SMC1A
ASPSCR1 CREB1 FLCN MUC4 PRCC SOCS1
ASXL1 CREBBP FLNA MUTYH PRPF40B SPEN
AXIN1 CRTC1 GPHN MYCN PTK6 SS18
BCL11B CSMD3 HLA-A NACA PTPN13 STAT3
BCL9L CTCF IKZF1 NCKIPSD PTPRD STK11
BRAF CTNND1 JAK3 NIN PWWP2A SYK
BRCA1 CUX1 KEAP1 NOTCH1 RALGDS TCF3
BRCA2 DCC KIAA1549 NOTCH2 RBM15 TFE3
BRD3 DDB2 KMT2D NR4A3 RECQL4 TFPT
CALR DICER1 LMO2 NSD1 RNF213 TFRC
CBFA2T3 DNM2 MACC1 NUP214 RPL10 TMEM127
CBLC DNMT3A MAP3K1 NUP98 RPL22 TNFRSF14
CD74 EPS15 MAX PBRM1 RUNX1T1 TP53
CD79A ETV1 MEN1 PDGFRB SALL4 TRAF7
CDH1 EWSR1 MLH1 PER1 SETD1B TSC2
CEBPA FANCD2 MSH6 PIK3CA SETD2 UBR5

Liste aller Mutationen

Hugo Symbol Chr Start Position End Position Variant Classification Variant Type Reference Allele Tumor Seq Allele Protein Change Cancer Gene?
A1BG 19 58863710 58863710 Nonsense_Mutation SNP G T p.Y184* yes
A1CF 10 52575808 52575808 Missense_Mutation SNP G A p.H367Y no
A1CF 10 52601641 52601641 Missense_Mutation SNP G C p.L116V no
A4GALT 22 43089412 43089412 Silent SNP G A p.L182L yes
AARS 16 70316654 70316654 Missense_Mutation SNP G C p.L5V yes
AARS 16 70293051 70293051 Silent SNP C T p.T608T yes
AARS 16 70294998 70294998 Silent SNP G T p.T578T yes
AARS 16 70305839 70305839 Silent SNP C T p.K172K yes
AATK 17 79094202 79094202 Nonsense_Mutation SNP G T p.Y1178* yes
AATK 17 79096028 79096028 Missense_Mutation SNP C T p.A570T yes
ABCA2 9 139904075 139904075 Missense_Mutation SNP C A p.D2217Y yes
ABCA2 9 139910514 139910514 Missense_Mutation SNP G A p.H1072Y yes
ABCA2 9 139912282 139912282 Missense_Mutation SNP G C p.T722S yes
ABCA2 9 139912674 139912674 Missense_Mutation SNP G T p.T649N yes
ABCA2 9 139914819 139914819 Missense_Mutation SNP G C p.A464G yes
ABCA2 9 139917505 139917505 Splice_Site SNP C T yes
ABCA2 9 139918686 139918686 Missense_Mutation SNP C A p.W23C yes
ABCA2 9 139916351 139916351 Missense_Mutation SNP G A p.R223W yes
ABCA2 9 139903836 139903836 Silent SNP C T p.Q2270Q yes
ABCA2 9 139907214 139907214 Silent SNP G A p.H1676H yes
ABCA2 9 139908302 139908302 Silent SNP G A p.L1476L yes
ABCA2 9 139912278 139912278 Silent SNP G A p.I723I yes
ABCA2 9 139916357 139916357 Silent SNP G A p.L221L yes
ABCA2 9 139915364 139915364 Silent SNP C T p.Q348Q yes
ABCA3 16 2329056 2329056 Missense_Mutation SNP T C p.M1479V yes
ABCA3 16 2331207 2331207 Missense_Mutation SNP C G p.V1394L yes
ABCA3 16 2347409 2347409 Silent SNP C T p.L728L yes
ABCA3 16 2350027 2350027 Silent SNP G A p.I530I yes
ABCA7 19 1041883 1041883 Missense_Mutation SNP G A p.G72S yes
ABCA7 19 1041884 1041884 Missense_Mutation SNP G A p.G72D yes
ABCA7 19 1046293 1046293 Missense_Mutation SNP G A p.V504M yes
ABCA7 19 1065099 1065099 Nonsense_Mutation SNP G T p.G2072* yes
ABCA7 19 1065108 1065108 Missense_Mutation SNP G A p.A2075T yes
ABCA7 19 1046821 1046821 Missense_Mutation SNP G A p.R548Q yes
ABCA7 19 1041924 1041924 Silent SNP G A p.L85L yes
ABCA7 19 1058642 1058642 Silent SNP G A p.L1725L yes
ABCA7 19 1065074 1065074 Silent SNP G T p.G2063G yes
ABCC11 16 48201407 48201407 Splice_Site SNP C A p.K1352N yes
ABCC3 17 48765019 48765019 Missense_Mutation SNP T C p.I1468T yes
ABCC6 16 16259558 16259558 Silent SNP G A p.V1076V yes
ABCC8 11 17483367 17483367 Silent SNP G A p.Y195Y yes
ABCD1 0 153001804 153001804 Silent SNP G T p.T410T yes
ABCD4 14 74756222 74756222 Splice_Site SNP C T p.V474M yes
ABHD11 7 73151903 73151903 Missense_Mutation SNP C T p.A151T yes
ABHD17A 19 1877625 1877625 Missense_Mutation SNP C G p.V197L yes
ABHD17A 19 1881382 1881382 Missense_Mutation SNP C T p.A62T yes
ABHD17A 19 1881513 1881513 Missense_Mutation SNP C T p.C18Y yes
ABHD8 19 17405297 17405297 Missense_Mutation SNP G T p.Q317K yes
ABI2 2 204281644 204281644 Silent SNP A G p.P369P yes
ABL1 9 133760049 133760049 Missense_Mutation SNP A G p.E791G no
AC016757.3 2 239136386 239136386 Missense_Mutation SNP G C p.L25V yes
AC087645.1 17 76219893 76219893 Missense_Mutation SNP C T p.S130N yes
ACACA 17 35445902 35445902 Silent SNP G A p.S2296S yes
ACAP3 1 1231807 1231807 Silent SNP G A p.H445H yes
ACAP3 1 1231852 1231852 Silent SNP G A p.S430S yes
ACBD3 1 226334420 226334420 Missense_Mutation SNP G A p.A493V yes
ACBD4 17 43213928 43213928 Silent SNP C T p.T50T yes
ACBD4 17 43214466 43214466 Silent SNP C T p.D125D yes
ACBD4 17 43214784 43214784 Silent SNP T C p.P155P yes
ACIN1 14 23559190 23559190 Splice_Site SNP C T yes
ACKR4 3 132319699 132319699 Missense_Mutation SNP C T p.P153L yes
ACOT4 14 74060484 74060484 Missense_Mutation SNP C T p.A179V yes
ACSM2A 16 20489898 20489898 Splice_Site SNP A C p.I394L yes
ACSM2B 16 20565220 20565220 Missense_Mutation SNP A G p.C207R yes
ACSM3 16 20796363 20796363 Silent SNP C T p.D359D yes
ACTB 7 5568796 5568796 Missense_Mutation SNP G A p.T120I yes
ACTB 7 5569168 5569168 Nonsense_Mutation SNP G A p.Q41* yes
ACTG1 17 79478104 79478104 Missense_Mutation SNP G A p.T278I yes
ACTG1 17 79478107 79478107 Missense_Mutation SNP G C p.T277S yes
ACTG2 2 74140711 74140711 Missense_Mutation SNP G A p.R184H yes
ACTN4 19 39219698 39219698 Silent SNP C T p.T827T yes
ACVR1B 12 52345607 52345607 Frame_Shift_Del DEL G – p.R27fs yes
ACY1 3 52022945 52022945 Missense_Mutation SNP G T p.G361C yes
ADAD2 16 84224995 84224995 Silent SNP C T p.R53R yes
ADAL 15 43641239 43641239 Silent SNP A C p.P256P yes
ADAM12 10 127724782 127724782 Missense_Mutation SNP C A p.R824L yes
ADAM15 1 155028902 155028902 Nonsense_Mutation SNP C T p.Q319* yes
ADAM23 2 207424772 207424772 Nonsense_Mutation SNP C T p.Q367* yes
ADAMTS13 9 136305464 136305464 Splice_Site SNP G A yes
ADAMTS18 16 77356311 77356311 Frame_Shift_Del DEL A – p.F695fs yes
ADAMTS4 1 161161350 161161350 Missense_Mutation SNP C T p.G698R yes
ADAMTSL4 1 150528753 150528753 Missense_Mutation SNP G C p.G496A yes
ADAMTSL5 19 1510393 1510393 Missense_Mutation SNP G C p.H86D yes
ADAT3 19 1912976 1912976 Silent SNP C T p.C294C yes
ADC 1 33547955 33547955 Splice_Site SNP G T p.T35T yes
ADCK4 19 41197963 41197963 Frame_Shift_Del DEL C – p.D538fs yes
ADCK5 8 145617998 145617998 Missense_Mutation SNP C T p.R510W yes
ADCK5 8 145617771 145617771 Missense_Mutation SNP G A p.R460H yes
ADCK5 8 145618009 145618009 Silent SNP C T p.S513S yes
ADCY10 1 167778957 167778958 Frame_Shift_Ins INS – T p.N1597fs yes
ADCY3 2 25141221 25141221 Silent SNP C T p.Q212Q yes
ADCY6 12 49171448 49171448 Frame_Shift_Del DEL T – p.K362fs yes
ADCY9 16 4027566 4027566 Silent SNP G A p.L915L yes
ADD3 10 111883890 111883890 Missense_Mutation SNP T C p.V420A yes
ADRA1A 8 26614166 26614166 Missense_Mutation SNP C A p.Q338H yes
ADRA2C 4 3769688 3769688 Missense_Mutation SNP T G p.L452R yes
ADRB1 10 115804872 115804872 Silent SNP C T p.G327G yes
ADRBK1 11 67050629 67050629 Missense_Mutation SNP G A p.E420K yes
ADRBK1 11 67046888 67046888 Splice_Site SNP G A yes
AEBP1 7 44148890 44148890 Missense_Mutation SNP C T p.P367L yes
AEBP1 7 44146443 44146443 Silent SNP C A p.P184P yes
AES 19 3055688 3055688 Nonsense_Mutation SNP G A p.Q91* yes
AFF4 5 132232650 132232650 Nonsense_Mutation SNP G A p.Q558* no
AFG3L2 18 12348347 12348347 Silent SNP A G p.L530L yes
AFM 4 74363400 74363400 Missense_Mutation SNP G A p.S408N yes
AGAP2 12 58129209 58129209 Splice_Site SNP C G p.K390N yes
AGAP2 12 58131126 58131126 Missense_Mutation SNP C G p.A302P yes
AGAP3 7 150839255 150839255 Silent SNP A G p.R324R yes
AGAP7 10 51465247 51465247 Silent SNP C T p.T403T yes
AGBL5 2 27282250 27282250 Missense_Mutation SNP C A p.H689Q yes
AGBL5 2 27282244 27282244 Silent SNP C A p.V687V yes
AGPAT2 9 139568207 139568207 Silent SNP C T p.Q278Q yes
AGPAT4 6 161587391 161587391 Silent SNP C T p.P79P yes
AGPS 2 178257717 178257717 Missense_Mutation SNP C T p.A67V yes
AHDC1 1 27874891 27874891 Missense_Mutation SNP G A p.H1246Y yes
AHDC1 1 27877467 27877467 Missense_Mutation SNP G A p.T387I yes
AHNAK 11 62301198 62301198 Missense_Mutation SNP C T p.A231T yes
AHNAK2 14 105413245 105413245 Missense_Mutation SNP C T p.S2848N yes
AJAP1 1 4772263 4772263 Silent SNP C A p.L111L yes
AJUBA 14 23450736 23450736 Missense_Mutation SNP C A p.G247V yes
AK8 9 135601093 135601093 Silent SNP C T p.L474L yes
AKAP11 13 42872796 42872796 Missense_Mutation SNP T C p.L160S yes
AKAP13 15 86123700 86123700 Missense_Mutation SNP G A p.A801T yes
AKAP7 6 131481276 131481276 Frame_Shift_Del DEL A – p.K79fs yes
AKAP8 19 15469812 15469812 Missense_Mutation SNP C T p.R530K yes
AKNA 9 117129852 117129852 Missense_Mutation SNP C T p.A567T yes
AKR1A1 1 46033833 46033833 Missense_Mutation SNP G A p.R179H yes
AKT1S1 19 50374878 50374878 Missense_Mutation SNP G A p.P185S yes
ALAS1 3 52236580 52236580 Missense_Mutation SNP C T p.P86L yes
ALDH16A1 19 49967698 49967698 Silent SNP C T p.I452I yes
ALDH1L2 12 105464466 105464466 Missense_Mutation SNP C T p.V104M yes
ALDH4A1 1 19205854 19205854 Missense_Mutation SNP G T p.L294M yes
ALDH8A1 6 135263686 135263686 Silent SNP C T p.L101L yes
ALG10 12 34179308 34179308 Frame_Shift_Del DEL T – p.F295fs yes
ALG12 22 50304112 50304112 Missense_Mutation SNP T C p.T147A yes
ALG12 22 50297693 50297693 Silent SNP C G p.V420V yes
ALG13 0 110987954 110987959 In_Frame_Del DEL ACCACC – p.PP943del yes
ALG9 11 111680487 111680487 Missense_Mutation SNP C T p.S367N yes
ALG9 11 111731271 111731271 Splice_Site SNP T C p.S17S yes
ALKBH6 19 36503964 36503964 Missense_Mutation SNP C T p.D28N yes
ALKBH6 19 36501883 36501883 Silent SNP C T p.V83V yes
ALOX5 10 45939213 45939213 Silent SNP G A p.S537S yes
ALPI 2 233323058 233323058 Missense_Mutation SNP G A p.A375T yes
ALPK1 4 113303631 113303631 Nonsense_Mutation SNP C T p.Q67* yes
AMDHD2 16 2571071 2571071 Missense_Mutation SNP G T p.V103F yes
AMH 19 2249480 2249480 Missense_Mutation SNP C A p.P50Q yes
AMPD3 11 10500109 10500109 Silent SNP G A p.L95L yes
ANAPC1 2 112638389 112638389 Missense_Mutation SNP T A p.Y5F yes
ANAPC15 11 71821157 71821157 Missense_Mutation SNP G A p.P99S yes
ANAPC2 9 140069767 140069767 Silent SNP G A p.N726N yes
ANGEL2 1 213181665 213181665 Nonsense_Mutation SNP G A p.Q177* yes
ANGPT2 8 6377436 6377436 Silent SNP G A p.T293T yes
ANKAR 2 190560941 190560941 Silent SNP C T p.S518S yes
ANKEF1 20 10030481 10030481 Frame_Shift_Del DEL A – p.K423fs yes
ANKEF1 20 10025143 10025143 Silent SNP C T p.N216N yes
ANKLE2 12 133331470 133331470 Missense_Mutation SNP T C p.N144S yes
ANKRD11 16 89347378 89347378 Missense_Mutation SNP G A p.P1858S yes
ANKRD18B 9 33524526 33524526 Silent SNP G A p.Q13Q yes
ANKRD26 10 27381354 27381354 Missense_Mutation SNP C T p.A207T yes
ANKRD28 3 15718517 15718517 Missense_Mutation SNP C A p.R916I yes
ANKRD34A 1 145474620 145474620 Missense_Mutation SNP G A p.S431N yes
ANKRD34A 1 145473616 145473616 Silent SNP G A p.L96L yes
ANKRD35 1 145561861 145561861 Missense_Mutation SNP G C p.V517L yes
ANKRD54 22 38236242 38236242 Splice_Site SNP C T yes
ANKRD9 14 102973444 102973444 Silent SNP C T p.L261L yes
ANKS1A 6 34857318 34857318 Missense_Mutation SNP A G p.S47G yes
ANKS1A 6 34951142 34951143 Frame_Shift_Ins INS – C p.T318fs yes
ANLN 7 36450236 36450236 Missense_Mutation SNP A G p.T404A yes
ANLN 7 36492100 36492100 Missense_Mutation SNP C T p.A1089V yes
ANO10 3 43647213 43647213 Frame_Shift_Del DEL T – p.K44fs yes
ANP32E 1 150199008 150199019 In_Frame_Del DEL CTTCATCTTCAT – p.DEDE201del yes
ANPEP 15 90349477 90349477 Missense_Mutation SNP C T p.C113Y yes
ANTXR2 4 80905985 80905986 Frame_Shift_Ins INS – G p.P358fs yes
ANXA4 2 69969133 69969133 De_novo_Start_OutOfFrame SNP G A yes
ANXA9 1 150956494 150956494 Silent SNP C T p.S72S yes
AOC3 17 41004105 41004105 Missense_Mutation SNP G T p.V249L yes
AOC3 17 41004112 41004112 Missense_Mutation SNP A C p.H251P yes
AOC3 17 41006590 41006590 Missense_Mutation SNP G C p.A576P yes
AOC3 17 41004098 41004098 Silent SNP G A p.E246E yes
AP1G2 14 24032654 24032654 Frame_Shift_Del DEL C – p.A449fs yes
AP1M1 19 16338477 16338477 Silent SNP C T p.L264L yes
AP1M2 19 10690475 10690475 Missense_Mutation SNP A G p.S245P yes
AP2A1 19 50309394 50309394 Missense_Mutation SNP G A p.A914T yes
AP4M1 7 99701730 99701731 Frame_Shift_Ins INS – T p.V187fs yes
AP5S1 20 3802791 3802791 Silent SNP C A p.T9T yes
APAF1 12 99065359 99065359 Missense_Mutation SNP G A p.G552E yes
APC2 19 1466377 1466377 Missense_Mutation SNP G C p.R1026P yes
APC2 19 1458003 1458003 Missense_Mutation SNP G A p.C416Y yes
APC2 19 1461113 1461113 Silent SNP C T p.S533S yes
APC2 19 1465286 1465286 Silent SNP G A p.L662L yes
APC2 19 1469003 1469003 Silent SNP C T p.P1901P yes
APCDD1 18 10488012 10488012 Silent SNP C T p.L508L yes
APEH 3 49712736 49712736 Missense_Mutation SNP G A p.R89Q yes
APLP2 11 129999067 129999067 Missense_Mutation SNP A C p.N474T yes
APMAP 20 24950964 24950964 Frame_Shift_Del DEL C – p.G194fs yes
ARAP3 5 141035452 141035452 Missense_Mutation SNP C T p.S1319N yes
ARFGEF2 20 47649661 47649661 Silent SNP G A p.R1761R yes
ARHGAP18 6 129920449 129920449 Missense_Mutation SNP T C p.K542R yes
ARHGAP20 11 110462716 110462716 Silent SNP C T p.L376L yes
ARHGAP23 17 36625836 36625836 Missense_Mutation SNP G A p.D626N yes
ARHGAP29 1 94668155 94668155 Frame_Shift_Del DEL T – p.N363fs yes
ARHGAP33 19 36277635 36277635 Missense_Mutation SNP C T p.P755S yes
ARHGAP39 8 145773824 145773824 Missense_Mutation SNP T C p.K216E yes
ARHGAP6 0 11157206 11157206 Missense_Mutation SNP G C p.P901R yes
ARHGEF1 19 42402734 42402734 Missense_Mutation SNP G A p.S422N yes
ARHGEF10 8 1900887 1900887 Silent SNP G T p.S1163S no
ARHGEF11 1 156918263 156918263 Silent SNP G A p.R611R yes
ARHGEF16 1 3395157 3395157 Silent SNP C T p.L599L yes
ARHGEF19 1 16534635 16534635 Silent SNP C T p.V166V yes
ARHGEF19 1 16534442 16534442 Frame_Shift_Del DEL C – p.E231fs yes
ARHGEF2 1 155934845 155934845 Missense_Mutation SNP C T p.A220T yes
ARHGEF3 3 56789131 56789131 Frame_Shift_Del DEL G – p.R85fs yes
ARHGEF5 7 144062455 144062455 Missense_Mutation SNP G T p.W898L yes
ARHGEF5 7 144061016 144061016 Silent SNP C T p.H418H yes
ARID1A 1 27057672 27057672 Silent SNP C T p.S460S no
ARID1A 1 27101590 27101590 Silent SNP C T p.H1624H no
ARID3A 19 929728 929728 Missense_Mutation SNP C G p.A67G yes
ARID3B 15 74836634 74836634 Silent SNP A G p.S119S yes
ARID4A 14 58814450 58814451 Frame_Shift_Ins INS – A p.E420fs yes
ARID5B 10 63700050 63700050 Missense_Mutation SNP G T p.V129L yes
ARIH2 3 48965122 48965122 Missense_Mutation SNP G A p.S44N yes
ARL8B 3 5164219 5164219 Silent SNP G A p.L23L yes
ARMC5 16 31477986 31477986 Frame_Shift_Del DEL C – p.P862fs yes
ARMC7 17 73106417 73106417 Missense_Mutation SNP G C p.G12R yes
ARMCX1 0 100807945 100807945 Missense_Mutation SNP C T p.A11V yes
ARPC1B 7 98990493 98990493 Missense_Mutation SNP G A p.S328N yes
ARRDC1 9 140509190 140509190 Frame_Shift_Del DEL C – p.G325fs yes
ARSI 5 149681756 149681756 Missense_Mutation SNP C T p.D61N yes
ARVCF 22 19969568 19969568 Missense_Mutation SNP G T p.A86E yes
ASAH2 10 52005194 52005194 Frame_Shift_Del DEL A – p.S50fs yes
ASAP1 8 131072831 131072831 Silent SNP G A p.I1062I yes
ASAP1 8 131129142 131129142 Silent SNP C T p.K660K yes
ASAP2 2 9490982 9490982 Missense_Mutation SNP A G p.K357E yes
ASB7 15 101169794 101169794 Missense_Mutation SNP C T p.H122Y yes
ASGR2 17 7010400 7010400 Silent SNP G A p.S194S yes
ASPHD2 22 26830204 26830204 Missense_Mutation SNP C T p.A208V yes
ASPM 1 197073232 197073232 Frame_Shift_Del DEL T – p.I1717fs yes
ASPSCR1 17 79974727 79974727 Missense_Mutation SNP C T p.A486V no
ASXL1 20 31023136 31023136 Missense_Mutation SNP C T p.P874L no
ASXL1 20 31022471 31022472 Frame_Shift_Ins INS – G p.G653fs no
ATF2 2 175962172 175962172 Splice_Site SNP C A p.P326P yes
ATG2B 14 96761299 96761299 Frame_Shift_Del DEL A – p.F1808fs yes
ATG2B 14 96792006 96792006 Missense_Mutation SNP A T p.L806H yes
ATG9B 7 150721468 150721468 Missense_Mutation SNP C T p.G15R yes
ATG9B 7 150721218 150721218 Frame_Shift_Del DEL G – p.P98fs yes
ATHL1 11 294169 294169 Missense_Mutation SNP C T p.A594V yes
ATHL1 11 294716 294716 Silent SNP C T p.T727T yes
ATN1 12 7045623 7045623 Missense_Mutation SNP C T p.P398L yes
ATN1 12 7046700 7046700 Missense_Mutation SNP C T p.P757L yes
ATN1 12 7046474 7046474 Missense_Mutation SNP C A p.P682T yes
ATP13A5 3 193049005 193049005 Nonsense_Mutation SNP A C p.Y456* yes
ATP2A1 16 28905515 28905515 Missense_Mutation SNP C A p.L379M yes
ATP2A1 16 28898577 28898577 Silent SNP G A p.K204K yes
ATP2A3 17 3838509 3838509 Missense_Mutation SNP G A p.P863S yes
ATP2B4 1 203667346 203667346 Frame_Shift_Del DEL C – p.I85fs yes
ATP5SL 19 41942364 41942364 Silent SNP G A p.L77L yes
ATP6V0A1 17 40647735 40647735 Splice_Site SNP G A yes
ATP6V0A4 7 138437453 138437453 Missense_Mutation SNP C T p.V316I yes
ATP6V0B 1 44442761 44442761 Missense_Mutation SNP T C p.V155A yes
ATP6V1B2 8 20077831 20077831 Missense_Mutation SNP G A p.R485Q yes
ATP6V1C1 8 104078660 104078660 Silent SNP A G p.A346A yes
ATP7B 13 52548125 52548125 Missense_Mutation SNP C T p.E411K yes
ATP8A2 13 26133142 26133142 Missense_Mutation SNP C T p.T432M yes
ATP8B4 15 50168540 50168540 Missense_Mutation SNP T A p.I988F yes
ATXN1 6 16326704 16326704 Missense_Mutation SNP C T p.S613N yes
ATXN2L 16 28842390 28842390 Missense_Mutation SNP G A p.A440T yes
ATXN2L 16 28843649 28843649 Missense_Mutation SNP C T p.S482L yes
ATXN2L 16 28834659 28834659 Frame_Shift_Del DEL C – p.P28fs yes
ATXN2L 16 28847274 28847274 Silent SNP C T p.I972I yes
ATXN7L1 7 105254975 105254975 Silent SNP G A p.S602S yes
AVPR1B 1 206225318 206225318 Missense_Mutation SNP G T p.C293F yes
AXIN1 16 396197 396197 Missense_Mutation SNP C T p.A277T no
AXIN1 16 348023 348023 Missense_Mutation SNP C T p.D495N no
B3GALT6 1 1168273 1168273 Silent SNP C T p.L205L yes
B3GALT6 1 1167978 1167978 Missense_Mutation SNP G A p.R107H yes
B3GNT2 2 62449390 62449390 Missense_Mutation SNP G T p.G12V yes
B3GNT2 2 62449385 62449385 Silent SNP G A p.L10L yes
B3GNT6 11 76751713 76751713 Missense_Mutation SNP G A p.S373N yes
B3GNT6 11 76751658 76751658 Silent SNP C T p.L355L yes
B3GNT6 11 76751381 76751381 Silent SNP C T p.S262S yes
B4GALNT3 12 666842 666842 Missense_Mutation SNP G A p.D817N yes
B4GALNT3 12 666869 666869 Missense_Mutation SNP G A p.D826N yes
B4GALNT4 11 376080 376080 Missense_Mutation SNP C G p.L368V yes
BAHD1 15 40751680 40751680 Silent SNP G A p.K339K yes
BAI2 1 32207697 32207697 Silent SNP A C p.G458G yes
BAI3 6 69703710 69703710 Missense_Mutation SNP G A p.M595I yes
BAIAP3 16 1393016 1393016 Splice_Site SNP C G p.L457V yes
BAIAP3 16 1397899 1397899 Missense_Mutation SNP A T p.L1045F yes
BAIAP3 16 1397948 1397948 Missense_Mutation SNP C A p.L1062M yes
BAP1 3 52439186 52439186 Silent SNP G T p.P352P no
BATF3 1 212870319 212870319 Missense_Mutation SNP G A p.A60V yes
BAZ1B 7 72892773 72892773 Missense_Mutation SNP C T p.V340I yes
BBX 3 107519943 107519943 Splice_Site SNP T G p.D851E yes
BCAN 1 156616637 156616637 Nonsense_Mutation SNP C T p.Q46* yes
BCAS3 17 59465981 59465981 Frame_Shift_Del DEL A – p.K890fs yes
BCL11B 14 99642078 99642078 Silent SNP C T p.R365R no
BCL11B 14 99641926 99641926 Missense_Mutation SNP C A p.G416V no
BCL7B 7 72954342 72954342 Silent SNP C T p.Q102Q yes
BCL9L 11 118772059 118772059 Missense_Mutation SNP T C p.Q798R no
BEST2 19 12866253 12866253 Missense_Mutation SNP C A p.P233T yes
BGN 0 152772540 152772540 Missense_Mutation SNP A G p.E269G yes
BICD1 12 32458766 32458766 Missense_Mutation SNP A G p.K239E yes
BICD2 9 95481703 95481703 Silent SNP T C p.T408T yes
BMP4 14 54417381 54417381 Missense_Mutation SNP A G p.L199P yes
BMP8B 1 40253874 40253874 Missense_Mutation SNP G A p.A95V yes
BOD1L1 4 13602202 13602202 Missense_Mutation SNP T C p.T2108A yes
BOD1L1 4 13606689 13606689 Missense_Mutation SNP A T p.I612N yes
BOP1 8 145487263 145487263 Missense_Mutation SNP C T p.A518T yes
BOP1 8 145487266 145487266 Missense_Mutation SNP C T p.E517K yes
BRAF 7 140624440 140624440 Missense_Mutation SNP C T p.D22N no
BRCA1 17 41228547 41228547 Missense_Mutation SNP G A p.A1481V no
BRCA2 13 32936774 32936774 Silent SNP G A p.K2640K no
BRCA2 13 32912345 32912346 Frame_Shift_Ins INS – A p.E1285fs no
BRD1 22 50191559 50191559 Silent SNP C T p.R664R yes
BRD3 9 136905269 136905274 In_Frame_Del DEL CTTCTC – p.EK509del no
BRD3 9 136918529 136918529 Frame_Shift_Del DEL G – p.P24fs no
BRF1 14 105766925 105766925 Silent SNP G A p.I14I yes
BRSK2 11 1462144 1462144 Silent SNP C T p.H133H yes
BSG 19 579557 579557 Frame_Shift_Del DEL C – p.S158fs yes
BSN 3 49691494 49691494 Missense_Mutation SNP C T p.A1502V yes
BSN 3 49692222 49692222 Nonsense_Mutation SNP C T p.Q1745* yes
BSN 3 49699807 49699807 Missense_Mutation SNP C T p.P3510L yes
BSN 3 49698027 49698027 Silent SNP C T p.L2917L yes
BTBD1 15 83718854 83718854 Missense_Mutation SNP C T p.S212N yes
BTBD10 11 13410383 13410383 Silent SNP G A p.L475L yes
BTNL8 5 180374580 180374580 Frame_Shift_Del DEL T – p.F249fs yes
BZW2 7 16725565 16725565 Silent SNP G A p.E147E yes
C10orf54 10 73521716 73521716 Silent SNP G A p.V50V yes
C11orf21 11 2320727 2320727 Missense_Mutation SNP G T p.L120M yes
C11orf35 11 555457 555457 Missense_Mutation SNP C T p.A541T yes
C11orf40 11 4592777 4592777 Missense_Mutation SNP G A p.T177I yes
C12orf5 12 4430457 4430457 Missense_Mutation SNP C G p.T7S yes
C12orf50 12 88379821 88379821 Missense_Mutation SNP G A p.A311V yes
C12orf54 12 48880504 48880504 Missense_Mutation SNP G T p.D44Y yes
C12orf55 12 97078500 97078500 Missense_Mutation SNP G A p.A1931T yes
C14orf80 14 105965276 105965276 Missense_Mutation SNP G A p.G494E yes
C14orf80 14 105965211 105965211 Silent SNP G A p.Q472Q yes
C14orf80 14 105957755 105957755 Silent SNP C A p.R15R yes
C14orf93 14 23468046 23468046 Missense_Mutation SNP G A p.H63Y yes
C16orf11 16 613758 613758 Missense_Mutation SNP G A p.S155N yes
C16orf13 16 685315 685315 Missense_Mutation SNP A G p.L129P yes
C16orf45 16 15661864 15661864 Missense_Mutation SNP G T p.K85N yes
C16orf59 16 2510956 2510956 Silent SNP C T p.V112V yes
C16orf78 16 49407876 49407876 Missense_Mutation SNP A G p.K9R yes
C17orf66 17 34191506 34191506 Missense_Mutation SNP C G p.A169P yes
C17orf85 17 3729398 3729398 Missense_Mutation SNP G A p.A198V yes
C18orf8 18 21110372 21110372 Missense_Mutation SNP G A p.E564K yes
C19orf24 19 1277227 1277227 Silent SNP T C p.T109T yes
C19orf25 19 1478849 1478849 Frame_Shift_Del DEL G – p.P18fs yes
C19orf26 19 1229223 1229223 Silent SNP C T p.A711A yes
C19orf33 19 38795523 38795523 Silent SNP G A p.P80P yes
C19orf44 19 16628088 16628088 Silent SNP G A p.L650L yes
C19orf47 19 40832361 40832361 Missense_Mutation SNP C T p.A195T yes
C19orf60 19 18700445 18700445 Silent SNP C T p.A135A yes
C19orf69 19 41949120 41949120 Missense_Mutation SNP G A p.G16R yes
C1orf127 1 11007833 11007833 Frame_Shift_Del DEL C – p.A620fs yes
C1orf159 1 1021306 1021306 Missense_Mutation SNP G A p.L169F yes
C1QTNF8 16 1143627 1143627 Silent SNP C T p.L211L yes
C2 6 31913076 31913076 Missense_Mutation SNP G A p.R734H yes
C22orf43 22 23974005 23974005 Missense_Mutation SNP G A p.T69I yes
C2orf42 2 70409030 70409030 Frame_Shift_Del DEL G – p.R30fs yes
C2orf43 2 20990092 20990092 Missense_Mutation SNP C T p.R74H yes
C2orf62 2 219222353 219222353 Missense_Mutation SNP G A p.R72K yes
C3orf38 3 88199269 88199269 Missense_Mutation SNP A G p.N23D yes
C3orf56 3 126915720 126915720 Silent SNP C T p.C64C yes
C5 9 123744150 123744150 Missense_Mutation SNP C G p.R1153T yes
C5orf42 5 37169285 37169285 Missense_Mutation SNP C A p.A2281S yes
C5orf58 5 169672967 169672967 Splice_Site SNP G A p.E53E yes
C6 5 41181634 41181634 Frame_Shift_Del DEL T – p.T252fs yes
C6orf1 6 34215553 34215553 De_novo_Start_OutOfFrame SNP C T yes
C6orf136 6 30617570 30617570 Missense_Mutation SNP G A p.C103Y yes
C6orf62 6 24709017 24709017 Missense_Mutation SNP T A p.R184S yes
C6orf89 6 36867371 36867371 Frame_Shift_Del DEL C – p.P53fs yes
C7orf57 7 48089565 48089566 Frame_Shift_Ins INS – C p.FP199fs yes
C7orf65 7 47698513 47698513 Missense_Mutation SNP C T p.A48V yes
C8orf34 8 69400278 69400278 Missense_Mutation SNP C T p.L167F yes
C8orf58 8 22459345 22459345 Missense_Mutation SNP C T p.R213W yes
C9orf114 9 131586043 131586043 Missense_Mutation SNP G A p.R349C yes
C9orf142 9 139887646 139887646 Silent SNP G A p.L124L yes
C9orf78 9 132591740 132591740 Missense_Mutation SNP C T p.S208N yes
CA11 19 49143060 49143060 Silent SNP G A p.L184L yes
CABIN1 22 24472168 24472168 Missense_Mutation SNP G A p.A895T yes
CABP4 11 67223680 67223680 Nonsense_Mutation SNP G T p.E130* yes
CACFD1 9 136328660 136328660 Silent SNP G T p.A59A yes
CACNA1B 9 140772520 140772520 Silent SNP C T p.Y45Y yes
CACNA1C 12 2656679 2656679 Missense_Mutation SNP C T p.T485I yes
CACNA1F 0 49069146 49069146 Missense_Mutation SNP G A p.T1319I yes
CACNA1H 16 1257352 1257352 Missense_Mutation SNP C A p.F995L yes
CACNB2 10 18823079 18823079 Missense_Mutation SNP A G p.T377A yes
CACTIN 19 3624024 3624024 Missense_Mutation SNP G A p.R102W yes
CACTIN 19 3618982 3618982 Nonsense_Mutation SNP G T p.Y351* yes
CACTIN 19 3613279 3613279 Silent SNP G A p.T521T yes
CACTIN 19 3613306 3613306 Silent SNP G A p.P512P yes
CACTIN 19 3624025 3624025 Silent SNP G A p.R101R yes
CAD 2 27461978 27461978 Silent SNP C T p.L1648L yes
CAD 2 27454938 27454938 Missense_Mutation SNP C T p.R768C yes
CADM4 19 44131398 44131398 Missense_Mutation SNP C T p.R95H yes
CADPS 3 62636578 62636578 Missense_Mutation SNP C T p.E383K yes
CALCR 7 93065434 93065434 Frame_Shift_Del DEL T – p.M327fs yes
CALML5 10 5541260 5541260 Nonsense_Mutation SNP G A p.Q48* yes
CALR 19 13054362 13054362 Silent SNP C T p.G324G no
CALR 19 13050319 13050319 Missense_Mutation SNP C A p.L91M no
CAMK1 3 9799250 9799250 Silent SNP C A p.L362L yes
CAMK2G 10 75608807 75608807 Missense_Mutation SNP C T p.A161T yes
CAMK4 5 110679778 110679778 Missense_Mutation SNP C T p.A73V yes
CAMKK2 12 121711868 121711868 Silent SNP C A p.T154T yes
CAMSAP3 19 7671377 7671377 Nonsense_Mutation SNP C T p.Q181* yes
CAPN10 2 241536337 241536337 Missense_Mutation SNP C T p.P574L yes
CAPN10 2 241536344 241536344 Silent SNP C G p.G576G yes
CAPN13 2 30977198 30977198 Missense_Mutation SNP C T p.R300Q yes
CAPN15 16 597185 597185 Missense_Mutation SNP C A p.T116K yes
CAPSL 5 35921173 35921173 Missense_Mutation SNP T C p.K17R yes
CARD14 17 78155258 78155258 Missense_Mutation SNP G C p.R7S yes
CASC3 17 38296844 38296844 Missense_Mutation SNP G T p.D15Y yes
CASC5 15 40933110 40933110 Splice_Site SNP T C p.F1921L yes
CASC5 15 40942762 40942762 Missense_Mutation SNP G A p.E2091K yes
CASKIN1 16 2228646 2228646 Splice_Site SNP C T p.D1401N yes
CASKIN1 16 2229013 2229013 Silent SNP G T p.A1363A yes
CASKIN1 16 2240126 2240126 Silent SNP C T p.L64L yes
CASKIN2 17 73499945 73499945 Silent SNP G A p.R522R yes
CASP10 2 202050513 202050513 Missense_Mutation SNP G A p.G5S yes
CASP4 11 104825565 104825565 Missense_Mutation SNP C A p.M57I yes
CATSPER2 15 43940204 43940204 Missense_Mutation SNP C T p.R19H yes
CATSPERG 19 38851167 38851167 Silent SNP G A p.Q549Q yes
CBFA2T3 16 88952535 88952535 Silent SNP G A p.L243L no
CBFA2T3 16 88951544 88951544 Missense_Mutation SNP G A p.R343C no
CBLC 19 45287627 45287627 Nonsense_Mutation SNP C T p.Q296* no
CBS 21 44488675 44488675 Missense_Mutation SNP G C p.T87S yes
CBS 21 44486375 44486375 Silent SNP G A p.I143I yes
CBX1 17 46154354 46154355 Frame_Shift_Ins INS – T p.Q5fs yes
CBX4 17 77807770 77807770 Silent SNP G A p.Y557Y yes
CBX4 17 77809456 77809456 Silent SNP G A p.L79L yes
CCAR2 8 22476780 22476780 Missense_Mutation SNP G A p.R880Q yes
CCDC102A 16 57549282 57549282 Silent SNP C T p.L498L yes
CCDC102A 16 57562934 57562934 Silent SNP C T p.P52P yes
CCDC108 2 219893036 219893036 Missense_Mutation SNP G A p.R580C yes
CCDC109B 4 110481519 110481519 Missense_Mutation SNP G T p.W9L yes
CCDC116 22 21989567 21989567 Silent SNP G A p.T405T yes
CCDC130 19 13873633 13873633 Silent SNP C T p.P314P yes
CCDC136 7 128445943 128445943 Silent SNP C T p.H359H yes
CCDC141 2 179721017 179721017 Silent SNP A G p.I944I yes
CCDC149 4 24810222 24810222 Missense_Mutation SNP G A p.A460V yes
CCDC15 11 124856644 124856644 Missense_Mutation SNP G A p.D254N yes
CCDC158 4 77283326 77283326 Missense_Mutation SNP A G p.L658S yes
CCDC168 13 103381996 103381996 Frame_Shift_Del DEL A – p.F2388fs yes
CCDC19 1 159858216 159858216 Missense_Mutation SNP C T p.A115T yes
CCDC33 15 74623583 74623583 Nonsense_Mutation SNP C T p.Q573* yes
CCDC34 11 27360469 27360469 Missense_Mutation SNP T C p.K341E yes
CCDC39 3 180334484 180334485 Splice_Site DEL CT – yes
CCDC40 17 78023770 78023770 Missense_Mutation SNP G T p.K307N yes
CCDC40 17 78069192 78069192 Missense_Mutation SNP G A p.R988H yes
CCDC6 10 61666054 61666054 Silent SNP A C p.G43G no
CCDC66 3 56592933 56592933 Missense_Mutation SNP C T p.P24L yes
CCDC74A 2 132285544 132285544 Start_Codon_SNP SNP A G p.M1V yes
CCDC78 16 774469 774469 Missense_Mutation SNP G A p.A269V yes
CCDC85C 14 100069527 100069527 Missense_Mutation SNP C T p.R257H yes
CCDC87 11 66358384 66358384 Missense_Mutation SNP C T p.M701I yes
CCDC88B 11 64116821 64116821 Missense_Mutation SNP G T p.V879L yes
CCDC9 19 47773923 47773923 Missense_Mutation SNP A C p.K355Q yes
CCDC9 19 47773925 47773925 Silent SNP G A p.K355K yes
CCDC90B 11 82989861 82989861 Missense_Mutation SNP T C p.T78A yes
CCDC97 19 41822679 41822679 Missense_Mutation SNP G A p.R146Q yes
CCKAR 4 26487483 26487483 Silent SNP G A p.A134A yes
CCKBR 11 6292451 6292451 Frame_Shift_Del DEL T – p.L341fs yes
CCNB3 0 50051743 50051743 Missense_Mutation SNP A G p.K192E yes
CCNF 16 2503480 2503480 Missense_Mutation SNP C A p.L553I yes
CCNI 4 77969380 77969380 Missense_Mutation SNP C T p.V376I yes
CCSER1 4 91389496 91389496 Missense_Mutation SNP C A p.P572H yes
CCT8L2 22 17072858 17072858 Missense_Mutation SNP C T p.D195N yes
CCZ1B 7 6841070 6841070 Silent SNP C T p.T397T yes
CD151 11 837249 837249 Splice_Site SNP G A yes
CD248 11 66084149 66084149 Nonsense_Mutation SNP C T p.W117* yes
CD248 11 66084260 66084260 Missense_Mutation SNP C T p.S80N yes
CD248 11 66084112 66084112 Silent SNP C T p.Q129Q yes
CD300LB 17 72521963 72521963 Silent SNP G A p.D135D yes
CD37 19 49842642 49842642 Missense_Mutation SNP G A p.G247D yes
CD4 12 6924015 6924015 Missense_Mutation SNP G A p.C155Y yes
CD4 12 6909516 6909517 Frame_Shift_Ins INS – A p.K32fs yes
CD7 17 80273257 80273257 Silent SNP C A p.V221V yes
CD74 5 149782722 149782722 Missense_Mutation SNP A G p.V260A no
CD79A 19 42383610 42383610 Frame_Shift_Del DEL C – p.P130fs no
CD81 11 2398810 2398810 Missense_Mutation SNP A G p.K11E yes
CDAN1 15 43025351 43025351 Missense_Mutation SNP T G p.E467D yes
CDC25C 5 137655016 137655016 Silent SNP G T p.P169P yes
CDC37 19 10503950 10503950 Nonsense_Mutation SNP G T p.Y298* yes
CDC37 19 10506765 10506765 Missense_Mutation SNP C A p.V73L yes
CDC37 19 10506793 10506793 Missense_Mutation SNP C G p.E63D yes
CDC37L1 9 4685061 4685061 Missense_Mutation SNP G A p.R106Q yes
CDC42BPB 14 103404492 103404492 Silent SNP C T p.V1651V yes
CDC42BPB 14 103465919 103465919 Silent SNP C T p.Q193Q yes
CDC42EP5 19 54976707 54976707 Missense_Mutation SNP G T p.P9T yes
CDC45 22 19504110 19504110 Missense_Mutation SNP C A p.H501N yes
CDCA3 12 6959661 6959661 Missense_Mutation SNP C T p.A74T yes
CDH1 16 68842448 68842448 Missense_Mutation SNP C T p.P170L no
CDH15 16 89258247 89258247 Missense_Mutation SNP G T p.Q520H yes
CDH15 16 89256839 89256839 Silent SNP C T p.P389P yes
CDH2 18 25568542 25568542 Missense_Mutation SNP A T p.S563T yes
CDH24 14 23517395 23517395 Missense_Mutation SNP C T p.D752N yes
CDH24 14 23518921 23518921 Silent SNP G A p.D542D yes
CDH26 20 58606321 58606321 Silent SNP C T p.G736G yes
CDH6 5 31313514 31313514 Missense_Mutation SNP G A p.R448Q yes
CDHR1 10 85955337 85955337 Missense_Mutation SNP C T p.T48I yes
CDHR1 10 85955340 85955340 Missense_Mutation SNP C T p.P49L yes
CDHR2 5 176011976 176011976 Silent SNP C T p.D898D yes
CDHR5 11 620336 620336 Silent SNP G A p.D280D yes
CDIP1 16 4562992 4563006 In_Frame_Del DEL GTAGGGCCCTGGCGT – p.TPGPY101del yes
CDK11B 1 1580505 1580505 Missense_Mutation SNP G A p.R208W yes
CDK5R2 2 219824883 219824883 Missense_Mutation SNP G A p.G114D yes
CDK9 9 130550895 130550895 Missense_Mutation SNP G A p.S226N yes
CDKL2 4 76539580 76539580 Frame_Shift_Del DEL T – p.K74fs yes
CDKN1A 6 36651956 36651956 Silent SNP C T p.D26D no
CDON 11 125875872 125875872 Missense_Mutation SNP C A p.G545C yes
CEACAM16 19 45208968 45208968 Missense_Mutation SNP G A p.C257Y yes
CEACAM18 19 51986497 51986497 Missense_Mutation SNP C A p.N300K yes
CEACAM19 19 45175225 45175225 Nonsense_Mutation SNP C T p.Q8* yes
CEBPA 19 33793255 33793255 Silent SNP G A p.P22P no
CEBPA 19 33793147 33793147 Missense_Mutation SNP G T p.H58Q no
CEBPA 19 33793153 33793153 Missense_Mutation SNP G C p.C56W no
CEBPA 19 33793205 33793205 Missense_Mutation SNP G A p.P39L no
CEBPA 19 33793069 33793069 Missense_Mutation SNP G C p.H84Q no
CEBPB 20 48808573 48808573 Missense_Mutation SNP C A p.P335T yes
CEBPB 20 48808277 48808277 Missense_Mutation SNP C T p.P236L yes
CEBPB 20 48808575 48808575 Silent SNP C G p.P335P yes
CEBPB 20 48808284 48808284 Silent SNP C G p.P238P yes
CECR2 22 18028185 18028185 Missense_Mutation SNP G T p.G906C yes
CECR5 22 17640033 17640033 Missense_Mutation SNP C T p.A37T yes
CECR6 22 17600845 17600845 Silent SNP G T p.R391R yes
CEL 9 135946436 135946436 Missense_Mutation SNP G T p.S519I yes
CEL 9 135946610 135946610 Missense_Mutation SNP C T p.T577M yes
CEL 9 135946983 135946983 Silent SNP C G p.S701S yes
CELF2 10 11356162 11356162 Missense_Mutation SNP G A p.G339E yes
CELF5 19 3275966 3275966 Silent SNP T A p.P169P yes
CELSR2 1 109794672 109794672 Silent SNP C A p.S657S yes
CELSR2 1 109792994 109792994 Missense_Mutation SNP A G p.E98G yes
CELSR2 1 109793519 109793519 Missense_Mutation SNP C G p.A273G yes
CELSR2 1 109793234 109793234 Frame_Shift_Del DEL C – p.A178fs yes
CENPB 20 3766391 3766391 Nonsense_Mutation SNP G T p.S247* yes
CENPT 16 67864318 67864318 Silent SNP G A p.S279S yes
CEP152 15 49089686 49089686 Missense_Mutation SNP C T p.V118M yes
CEP170B 14 105359465 105359465 Missense_Mutation SNP G A p.R1344Q yes
CEP290 12 88474094 88474094 Silent SNP T G p.S1697S yes
CERK 22 47133973 47133973 Silent SNP G A p.L25L yes
CES5A 16 55883677 55883677 Missense_Mutation SNP C T p.A428T yes
CFB 6 31915608 31915608 Missense_Mutation SNP G A p.G250R yes
CGNL1 15 57731471 57731471 Missense_Mutation SNP G A p.C425Y yes
CHAF1A 19 4442955 4442955 Missense_Mutation SNP C T p.A935V yes
CHAF1B 21 37766854 37766854 Silent SNP A G p.L129L yes
CHD1 5 98232029 98232029 Silent SNP T C p.V537V yes
CHD4 12 6691803 6691803 Missense_Mutation SNP C A p.G1450C no
CHD4 12 6709534 6709534 Missense_Mutation SNP C T p.G364D no
CHD4 12 6710455 6710455 Splice_Site SNP C T p.G267S no
CHD4 12 6710461 6710461 Missense_Mutation SNP C T p.G265S no
CHD5 1 6196670 6196670 De_novo_Start_OutOfFrame SNP A T yes
CHD5 1 6196841 6196841 Missense_Mutation SNP A G p.W841R yes
CHD6 20 40141623 40141623 Silent SNP C T p.S238S yes
CHD7 8 61734596 61734596 Missense_Mutation SNP C T p.A950V yes
CHD7 8 61693793 61693793 Silent SNP C T p.L634L yes
CHD8 14 21876597 21876597 Silent SNP C T p.L868L yes
CHD9 16 53262996 53262996 Missense_Mutation SNP C G p.A757G yes
CHGA 14 93397971 93397971 Frame_Shift_Del DEL C – p.V244fs yes
CHID1 11 884136 884136 Silent SNP C T p.E245E yes
CHKA 11 67888387 67888387 Silent SNP C T p.R86R yes
CHMP3 2 86769418 86769418 Silent SNP C T p.L21L yes
CHRM1 11 62677989 62677989 Missense_Mutation SNP G A p.A195V yes
CHRM3 1 240072444 240072444 Frame_Shift_Del DEL A – p.K567fs yes
CHST10 2 101010006 101010006 Missense_Mutation SNP C T p.D258N yes
CHST15 10 125769734 125769734 Missense_Mutation SNP G T p.F539L yes
CHST3 10 73767938 73767938 Silent SNP C T p.R383R yes
CIB1 15 90774670 90774670 Missense_Mutation SNP C G p.E89Q yes
CIB3 19 16275687 16275687 Silent SNP C A p.L128L yes
CIC 19 42796458 42796458 Silent SNP C T p.T1005T no
CIC 19 42778115 42778115 Missense_Mutation SNP C G p.A727G no
CKAP5 11 46797866 46797866 Missense_Mutation SNP C A p.W977L yes
CKAP5 11 46799766 46799766 Missense_Mutation SNP C T p.A891T yes
CKAP5 11 46812103 46812103 Missense_Mutation SNP C T p.A561T yes
CKB 14 103988494 103988494 Missense_Mutation SNP C A p.V72L yes
CLASRP 19 45567451 45567451 Missense_Mutation SNP G A p.G363S yes
CLASRP 19 45570687 45570687 Missense_Mutation SNP G A p.S501N yes
CLC 19 40222146 40222146 Splice_Site SNP C A yes
CLCA2 1 86898100 86898100 Silent SNP C T p.C211C yes
CLCN2 3 184072376 184072376 Silent SNP G A p.S489S yes
CLCN7 16 1496684 1496684 Missense_Mutation SNP C A p.R789M yes
CLCN7 16 1499026 1499026 Missense_Mutation SNP C T p.G580S yes
CLDND2 19 51870758 51870758 Nonsense_Mutation SNP C T p.W128* yes
CLDND2 19 51871267 51871267 Silent SNP C T p.V61V yes
CLEC11A 19 51227666 51227666 Splice_Site SNP G A yes
CLEC1A 12 10223993 10223993 Missense_Mutation SNP G A p.A261V yes
CLIC3 9 139889209 139889209 Missense_Mutation SNP T C p.E212G yes
CLIP2 7 73814857 73814857 Missense_Mutation SNP C T p.A1013V yes
CLK2 1 155234494 155234494 Silent SNP A G p.H335H yes
CLN3 16 28499968 28499968 Missense_Mutation SNP T C p.T80A yes
CLNK 4 10502899 10502899 Missense_Mutation SNP G A p.T374I yes
CLRN2 4 17528453 17528453 Silent SNP G A p.A149A yes
CLTA 9 36199003 36199003 Missense_Mutation SNP G A p.A95T yes
CMPK2 2 6991732 6991732 Missense_Mutation SNP C T p.V359M yes
CNNM4 2 97462863 97462863 Missense_Mutation SNP C T p.S506L yes
CNNM4 2 97474358 97474358 Missense_Mutation SNP G A p.R670H yes
CNOT6L 4 78652560 78652560 Silent SNP G A p.H335H yes
CNTN2 1 205034982 205034982 Silent SNP C T p.C587C yes
CNTNAP1 17 40842893 40842893 Silent SNP T C p.N664N yes
CNTRL 9 123875848 123875848 Missense_Mutation SNP G A p.M397I no
COG1 17 71189323 71189323 Missense_Mutation SNP G A p.A39T yes
COG4 16 70517797 70517797 Missense_Mutation SNP C G p.D596H yes
COG4 16 70543281 70543281 Silent SNP G A p.R285R yes
COL10A1 6 116441417 116441417 Missense_Mutation SNP A G p.V621A yes
COL16A1 1 32119208 32119208 Missense_Mutation SNP C G p.G1535A yes
COL16A1 1 32150230 32150230 Splice_Site DEL C – p.G685fs yes
COL18A1 21 46930138 46930138 Missense_Mutation SNP G T p.R1634L yes
COL18A1 21 46930121 46930121 Silent SNP G A p.L1628L yes
COL22A1 8 139707108 139707108 Silent SNP G A p.P869P yes
COL25A1 4 109753550 109753550 Missense_Mutation SNP G T p.P566T yes
COL5A3 19 10097099 10097099 Splice_Site SNP C T yes
COL6A2 21 47540481 47540481 Missense_Mutation SNP A G p.K462R yes
COL6A3 2 238261166 238261166 Splice_Site SNP C T p.R2251Q yes
COL6A6 3 130311411 130311411 Silent SNP G A p.V1433V yes
COL7A1 3 48616376 48616376 Silent SNP G A p.G1800G yes
COL7A1 3 48607568 48607568 Splice_Site SNP G A p.T2495M yes
COL7A1 3 48606221 48606221 Missense_Mutation SNP G A p.P2585L yes
COL9A3 20 61452550 61452550 Silent SNP G C p.P109P yes
COMP 19 18899081 18899081 Silent SNP G A p.R305R yes
COPB1 11 14520533 14520533 Splice_Site SNP T C yes
COPE 19 19017812 19017812 Missense_Mutation SNP C T p.D134N yes
COPG1 3 128976618 128976618 Silent SNP G A p.K262K yes
COPG2 7 130295977 130295977 Missense_Mutation SNP T C p.H195R yes
COPS7B 2 232661009 232661009 Missense_Mutation SNP T C p.L174P yes
CORO1B 11 67209279 67209279 Missense_Mutation SNP C T p.V127I yes
CORO6 17 27943075 27943075 Missense_Mutation SNP C T p.G394D yes
CORO6 17 27942781 27942781 Missense_Mutation SNP A G p.M463T yes
COX6B2 19 55865134 55865134 Missense_Mutation SNP G T p.S74R yes
COX6B2 19 55865795 55865795 Missense_Mutation SNP C A p.C32F yes
CPA6 8 68334786 68334786 Silent SNP G A p.L423L yes
CPN1 10 101835844 101835844 Missense_Mutation SNP C G p.V82L yes
CPN1 10 101841323 101841323 Silent SNP C T p.P20P yes
CPN2 3 194062619 194062619 Missense_Mutation SNP G C p.S271R yes
CPNE1 20 34219876 34219876 Silent SNP G A p.Y176Y yes
CPNE4 3 131306410 131306410 Missense_Mutation SNP C A p.W233L yes
CPNE6 14 24546977 24546977 Splice_Site SNP G A yes
CPS1 2 211525368 211525368 Missense_Mutation SNP G A p.V1306I yes
CPSF1 8 145619448 145619448 Splice_Site SNP C A yes
CPSF1 8 145620186 145620186 Missense_Mutation SNP G T p.R1109S yes
CPSF1 8 145620387 145620387 Nonsense_Mutation SNP G T p.Y1066* yes
CPSF1 8 145623225 145623225 Missense_Mutation SNP C T p.D673N yes
CPSF1 8 145623340 145623340 Missense_Mutation SNP C G p.Q634H yes
CPSF1 8 145622499 145622499 Missense_Mutation SNP G A p.R839C yes
CPSF1 8 145622577 145622577 Missense_Mutation SNP C T p.V813M yes
CPSF1 8 145623914 145623914 Splice_Site SNP C A yes
CPSF1 8 145624010 145624010 Frame_Shift_Del DEL C – p.E553fs yes
CPSF1 8 145624366 145624366 Silent SNP C T p.G510G yes
CPSF1 8 145625029 145625029 Silent SNP C A p.T397T yes
CPSF3L 1 1247439 1247439 Missense_Mutation SNP C A p.D566Y yes
CPT1A 11 68575078 68575078 Missense_Mutation SNP C T p.V104M yes
CPT1C 19 50203999 50203999 Missense_Mutation SNP T A p.L114M yes
CPXM1 20 2778921 2778921 Missense_Mutation SNP C T p.G156D yes
CR2 1 207642043 207642044 Frame_Shift_Ins INS – C p.VP206fs yes
CREB1 2 208425864 208425865 Frame_Shift_Del DEL AG – p.R95fs no
CREBBP 16 3778915 3778915 Nonsense_Mutation SNP G A p.Q2045* no
CREBBP 16 3779211 3779211 Frame_Shift_Del DEL G – p.P1948fs no
CRELD2 22 50316958 50316958 Silent SNP G A p.T255T yes
CRIM1 2 36704159 36704159 Silent SNP G A p.E373E yes
CRIP1 14 105954694 105954694 Missense_Mutation SNP C A p.H54Q yes
CRIP2 14 105945174 105945174 Silent SNP G A p.R101R yes
CRK 17 1359376 1359376 Silent SNP G A p.S12S yes
CROCC 1 17292231 17292231 Silent SNP G A p.G1473G yes
CRTC1 19 18794619 18794619 Missense_Mutation SNP G A p.S36N no
CSAD 12 53566391 53566391 Silent SNP C T p.L56L yes
CSMD2 1 34181919 34181919 Missense_Mutation SNP T C p.M1062V yes
CSMD3 8 113569013 113569013 Missense_Mutation SNP A T p.Y1405N no
CSMD3 8 113303789 113303789 Frame_Shift_Del DEL A – p.L2975fs no
CSNK1D 17 80211081 80211081 Missense_Mutation SNP G A p.H126Y yes
CSNK2A3 11 11374036 11374036 Missense_Mutation SNP A G p.Y211H yes
CSPG4 15 75969591 75969591 Missense_Mutation SNP G A p.R1757W yes
CSPG4 15 75982040 75982040 Silent SNP G A p.L456L yes
CSPP1 8 68049695 68049695 Missense_Mutation SNP G A p.R606Q yes
CSRP3 11 19204240 19204240 Frame_Shift_Del DEL G – p.Q189fs yes
CSTB 21 45194146 45194146 Silent SNP C T p.K78K yes
CSTF3 11 33118430 33118430 Missense_Mutation SNP C T p.R408H yes
CTAGE5 14 39777682 39777682 Missense_Mutation SNP G A p.A362T yes
CTCF 16 67645339 67645339 Frame_Shift_Del DEL A – p.K203fs no
CTDP1 18 77475187 77475188 In_Frame_Ins INS – GGA p.582_583insE yes
CTH 1 70877171 70877171 Missense_Mutation SNP G C p.V25L yes
CTNND1 11 57559135 57559135 Missense_Mutation SNP G A p.R62H no
CTR9 11 10800262 10800262 Silent SNP C T p.D1044D yes
CTSZ 20 57571778 57571779 Frame_Shift_Del DEL TA – p.I239fs yes
CTU1 19 51607786 51607786 Missense_Mutation SNP G A p.A14V yes
CTU1 19 51607749 51607749 Silent SNP G A p.C26C yes
CUBN 10 16918974 16918974 Missense_Mutation SNP C T p.A3010T yes
CUBN 10 16882416 16882416 Silent SNP A G p.H3315H yes
CUL7 6 43010674 43010674 Missense_Mutation SNP G A p.R1171C yes
CUL7 6 43019073 43019073 Missense_Mutation SNP C A p.R289M yes
CUX1 7 101892173 101892173 Nonsense_Mutation SNP C T p.Q1457* no
CUX2 12 111785948 111785948 Frame_Shift_Del DEL C – p.A1427fs yes
CWF19L1 10 102016160 102016160 Silent SNP C T p.E121E yes
CXCL2 4 74964808 74964808 Frame_Shift_Del DEL G – p.P10fs yes
CXCR4 2 136872637 136872637 Silent SNP G A p.T287T no
CXorf65 0 70324635 70324635 Silent SNP C T p.P101P yes
CYB561 17 61513428 61513428 Silent SNP G A p.V96V yes
CYBA 16 88709878 88709878 Silent SNP C T p.P157P yes
CYLC1 0 83129489 83129489 Silent SNP A G p.K591K yes
CYP1A1 15 75015331 75015331 Silent SNP G A p.G36G yes
CYP2B6 19 41518262 41518262 Missense_Mutation SNP G A p.D342N yes
CYP4A22 1 47614299 47614299 Missense_Mutation SNP A G p.M464V yes
CYTH2 19 48977229 48977229 Missense_Mutation SNP G A p.A168T yes
CYTH4 22 37693604 37693604 Splice_Site SNP G A yes
DAAM1 14 59798160 59798161 Frame_Shift_Ins INS – A p.K599fs yes
DACT1 14 59113639 59113639 Silent SNP C T p.F766F yes
DACT2 6 168709719 168709719 Missense_Mutation SNP C T p.E240K yes
DAGLA 11 61503230 61503230 Missense_Mutation SNP C T p.T411M yes
DAGLA 11 61511904 61511904 Silent SNP C T p.P1024P yes
DALRD3 3 49055164 49055164 Silent SNP G A p.T200T yes
DALRD3 3 49055159 49055159 Missense_Mutation SNP G A p.A202V yes
DAPK1 9 90114010 90114010 Missense_Mutation SNP G T p.Q6H yes
DAZAP1 19 1432550 1432550 Missense_Mutation SNP G T p.Q303H yes
DAZAP1 19 1434882 1434882 Missense_Mutation SNP G A p.V399M yes
DCAF5 14 69520989 69520989 Missense_Mutation SNP A G p.L805P yes
DCAF5 14 69529156 69529156 Missense_Mutation SNP C T p.R340Q yes
DCC 18 50918078 50918078 Missense_Mutation SNP G A p.V837I no
DCHS2 4 155256032 155256032 Missense_Mutation SNP T C p.R402G yes
DCHS2 4 155412302 155412302 Missense_Mutation SNP A C p.L69R yes
DCLK2 4 151161625 151161625 Missense_Mutation SNP G A p.R592Q yes
DCST2 1 155001838 155001838 Frame_Shift_Del DEL A – p.Y405fs yes
DCTPP1 16 30440389 30440389 Silent SNP C T p.L67L yes
DCX 0 110653377 110653377 Silent SNP G A p.L165L yes
DDB1 11 61099129 61099129 Silent SNP C T p.L32L yes
DDB2 11 47237940 47237940 Nonsense_Mutation SNP C T p.Q61* no
DDN 12 49392057 49392057 Frame_Shift_Del DEL G – p.P201fs yes
DDT 22 24316498 24316498 Missense_Mutation SNP C T p.D36N yes
DDX28 16 68056166 68056166 Missense_Mutation SNP C T p.A314T yes
DDX39B 6 31498611 31498611 Missense_Mutation SNP A T p.D405E yes
DDX39B 6 31503258 31503258 Missense_Mutation SNP C T p.M207I yes
DDX41 5 176939840 176939840 Missense_Mutation SNP G A p.A447V yes
DDX55 12 124102348 124102348 Frame_Shift_Del DEL G – p.G366fs yes
DECR1 8 91013785 91013785 Missense_Mutation SNP G C p.R22P yes
DECR1 8 91013726 91013726 Silent SNP G A p.K2K yes
DEF8 16 90020686 90020686 Missense_Mutation SNP G A p.R70H yes
DEF8 16 90023937 90023937 Missense_Mutation SNP G A p.D142N yes
DEGS1 1 224380053 224380053 Missense_Mutation SNP A G p.E282G yes
DENND4B 1 153905406 153905406 Missense_Mutation SNP G A p.T1185I yes
DENND6B 22 50753290 50753290 Silent SNP C T p.E273E yes
DEPDC1B 5 59940574 59940574 Missense_Mutation SNP G A p.S236L yes
DEPDC1B 5 59940576 59940576 Missense_Mutation SNP C A p.K235N yes
DERA 12 16189635 16189635 Silent SNP T C p.H304H yes
DFNA5 7 24758720 24758720 Missense_Mutation SNP C T p.M174I yes
DGAT1 8 145540731 145540731 Nonsense_Mutation SNP C T p.W401* yes
DGAT1 8 145540746 145540746 Missense_Mutation SNP C G p.R396P yes
DGAT1 8 145540749 145540749 Missense_Mutation SNP C G p.R395P yes
DGAT1 8 145540282 145540282 Missense_Mutation SNP C T p.A468T yes
DGKH 13 42622946 42622946 Missense_Mutation SNP G C p.A13P yes
DGKH 13 42793926 42793926 Silent SNP G A p.Q1146Q yes
DGKH 13 42622945 42622945 Silent SNP C G p.G12G yes
DGKZ 11 46393082 46393082 Missense_Mutation SNP C T p.P418S yes
DGKZ 11 46398651 46398651 Missense_Mutation SNP C T p.A932V yes
DGKZ 11 46399750 46399750 Nonsense_Mutation SNP C G p.S970* yes
DGKZ 11 46387982 46387982 Missense_Mutation SNP G A p.C59Y yes
DGKZ 11 46393685 46393685 Silent SNP C T p.L486L yes
DHX16 6 30638197 30638197 Missense_Mutation SNP C T p.R219Q yes
DHX36 3 154032978 154032978 Frame_Shift_Del DEL T – p.M154fs yes
DHX37 12 125473565 125473565 Missense_Mutation SNP C A p.G2W yes
DHX37 12 125473566 125473566 Start_Codon_SNP SNP C A p.M1I yes
DHX58 17 40257877 40257877 Silent SNP G T p.T376T yes
DHX8 17 41566838 41566838 Missense_Mutation SNP C T p.A57V yes
DICER1 14 95582798 95582798 Missense_Mutation SNP T C p.I582V no
DIDO1 20 61510716 61510716 Missense_Mutation SNP C T p.D2198N yes
DIO3 14 102028008 102028008 Missense_Mutation SNP C T p.L59F yes
DIP2C 10 435988 435988 Missense_Mutation SNP T A p.R514W yes
DISP2 15 40660143 40660143 Silent SNP C T p.S610S yes
DLEC1 3 38080960 38080960 Silent SNP C T p.L82L yes
DLEU7 13 51417439 51417439 Missense_Mutation SNP A G p.M115T yes
DLG5 10 79581611 79581611 Missense_Mutation SNP C A p.L877F yes
DLGAP1 18 3880002 3880002 Silent SNP G A p.L23L yes
DMTN 8 21938686 21938686 Silent SNP G T p.V362V yes
DMXL1 5 118507608 118507608 Missense_Mutation SNP C T p.L2209F yes
DNA2 10 70176490 70176490 Silent SNP A G p.L1030L yes
DNAAF2 14 50100250 50100250 Missense_Mutation SNP C T p.V540M yes
DNAAF2 14 50100333 50100333 Missense_Mutation SNP C T p.G512D yes
DNAH1 3 52404769 52404769 Silent SNP C T p.F2151F yes
DNAH1 3 52409302 52409302 Frame_Shift_Del DEL C – p.G2344fs yes
DNAH1 3 52420699 52420699 Frame_Shift_Del DEL C – p.P2946fs yes
DNAH1 3 52420322 52420322 Silent SNP G A p.L2924L yes
DNAH10 12 124326000 124326000 Missense_Mutation SNP G T p.E1638D yes
DNAH10 12 124364196 124364196 Missense_Mutation SNP G C p.G2710R yes
DNAH10 12 124401139 124401139 Missense_Mutation SNP G A p.V3502I yes
DNAH10 12 124415997 124415997 Silent SNP G A p.L4180L yes
DNAH12 3 57509313 57509313 Frame_Shift_Del DEL T – p.K92fs yes
DNAH17 17 76457742 76457742 Nonsense_Mutation SNP G A p.Q3070* yes
DNAH17 17 76424683 76424683 Silent SNP G A p.L4166L yes
DNAH2 17 7637801 7637801 Missense_Mutation SNP C A p.H251Q yes
DNAH5 5 13829652 13829652 Silent SNP G A p.L2137L yes
DNAJA4 15 78572777 78572777 Missense_Mutation SNP C T p.A390V yes
DNAJC13 3 132235646 132235646 Silent SNP C T p.L1887L yes
DNHD1 11 6592600 6592600 Missense_Mutation SNP A G p.S4620G yes
DNHD1 11 6566922 6566922 Missense_Mutation SNP G A p.A1585T yes
DNHD1 11 6589406 6589406 Missense_Mutation SNP C T p.H4158Y yes
DNM1 9 131013112 131013112 Frame_Shift_Del DEL G – p.L809fs yes
DNM1 9 130984616 130984616 Silent SNP G A p.L330L yes
DNM2 19 10939865 10939865 Missense_Mutation SNP G A p.D738N no
DNMT3A 2 25471079 25471079 Missense_Mutation SNP C T p.E228K no
DNMT3A 2 25471082 25471082 Missense_Mutation SNP C A p.V227L no
DNMT3L 21 45679545 45679545 Silent SNP C G p.L67L yes
DOCK11 0 117772070 117772070 Missense_Mutation SNP G T p.M1327I yes
DOCK5 8 25261109 25261109 Silent SNP G T p.T1654T yes
DOCK9 13 99520591 99520591 Missense_Mutation SNP G A p.A995V yes
DOK1 2 74783539 74783539 Silent SNP C A p.A248A yes
DOK4 16 57513367 57513367 Missense_Mutation SNP C T p.S18N yes
DOLPP1 9 131847046 131847046 Splice_Site SNP C T p.T59M yes
DOPEY2 21 37605241 37605241 Silent SNP C T p.V830V yes
DPCR1 6 30917260 30917260 Missense_Mutation SNP C T p.A340V yes
DPEP3 16 68014081 68014081 Missense_Mutation SNP C T p.G93D yes
DPF1 19 38713010 38713010 Silent SNP G A p.C122C yes
DPM3 1 155112572 155112572 Missense_Mutation SNP C T p.A49T yes
DPP10 2 116257160 116257160 Missense_Mutation SNP T A p.L116I yes
DPP4 2 162868376 162868376 Missense_Mutation SNP C T p.G587R yes
DPP6 7 154561212 154561212 Frame_Shift_Del DEL C – p.V323fs yes
DPP7 9 140005372 140005372 Missense_Mutation SNP C T p.A435T yes
DPY19L3 19 32902178 32902178 Missense_Mutation SNP C T p.S46L yes
DPYSL3 5 146795338 146795338 Missense_Mutation SNP G A p.H138Y yes
DPYSL4 10 134014437 134014437 Missense_Mutation SNP G A p.G354S yes
DSCAM 21 41505849 41505849 Missense_Mutation SNP A G p.V1165A yes
DSCAML1 11 117314717 117314717 Silent SNP G A p.F1309F yes
DST 6 56328383 56328383 Missense_Mutation SNP G A p.P7327S yes
DST 6 56489235 56489235 Missense_Mutation SNP C T p.M1137I yes
DTNA 18 32455307 32455307 Silent SNP G A p.T589T yes
DTX3 12 58002360 58002360 Missense_Mutation SNP C T p.P270S yes
DUSP16 12 12672849 12672849 Missense_Mutation SNP G A p.T105I yes
DUSP28 2 241500112 241500112 Missense_Mutation SNP C T p.A4V yes
DUSP28 2 241500219 241500219 Silent SNP C T p.L40L yes
DUSP4 8 29207572 29207572 Missense_Mutation SNP C G p.R75P yes
DUSP5 10 112257890 112257890 Missense_Mutation SNP C A p.T4K yes
DVL1 1 1271858 1271858 Silent SNP C A p.R584R yes
DVL1 1 1271718 1271718 Missense_Mutation SNP C T p.R631H yes
DYNC1H1 14 102508029 102508029 Silent SNP C T p.I4020I yes
DZANK1 20 18377174 18377174 Missense_Mutation SNP A G p.V518A yes
DZANK1 20 18434388 18434388 Silent SNP A G p.L154L yes
DZIP1 13 96277078 96277078 Missense_Mutation SNP C T p.E306K yes
DZIP1L 3 137783491 137783491 Silent SNP G T p.A707A yes
E2F1 20 32267753 32267753 Missense_Mutation SNP C T p.R127H yes
E4F1 16 2282865 2282865 Missense_Mutation SNP G C p.S280T yes
EAF1 3 15469303 15469303 Missense_Mutation SNP A G p.N6S yes
EBF4 20 2733137 2733137 Missense_Mutation SNP G A p.V496M yes
EBPL 13 50235209 50235209 Frame_Shift_Del DEL A – p.F172fs yes
ECHDC1 6 127663526 127663526 De_novo_Start_OutOfFrame SNP C T yes
EDC3 15 74925031 74925031 Silent SNP C T p.Q483Q yes
EDC4 16 67916892 67916892 Missense_Mutation SNP C T p.R1221C yes
EDF1 9 139757740 139757740 Splice_Site SNP C A p.T97T yes
EEA1 12 93221701 93221701 Missense_Mutation SNP C T p.R464Q yes
EEF1D 8 144668997 144668997 Missense_Mutation SNP C A p.A7S yes
EEF1D 8 144669013 144669013 Start_Codon_SNP SNP C A p.M1I yes
EEF2K 16 22269814 22269814 Splice_Site SNP G A yes
EEFSEC 3 128060282 128060282 Silent SNP C T p.T331T yes
EFCAB3 17 60491148 60491148 Missense_Mutation SNP C A p.T308N yes
EFCAB3 17 60493381 60493381 Missense_Mutation SNP T A p.D336E yes
EFEMP2 11 65637435 65637435 Missense_Mutation SNP C T p.C207Y yes
EFHC1 6 52303292 52303292 Missense_Mutation SNP G T p.R159L yes
EFHC2 0 44088927 44088927 Silent SNP C T p.K573K yes
EGLN2 19 41312531 41312531 Silent SNP G A p.G305G yes
EGR1 5 137801698 137801698 Missense_Mutation SNP G A p.S83N yes
EHBP1L1 11 65352853 65352853 Missense_Mutation SNP G C p.G1242R yes
EHMT1 9 140611509 140611509 Missense_Mutation SNP G A p.A173T yes
EHMT1 9 140728829 140728829 Missense_Mutation SNP G A p.R1190Q yes
EHMT2 6 31850744 31850744 Silent SNP G A p.L1013L yes
EHMT2 6 31855600 31855600 Silent SNP G A p.G628G yes
EHMT2 6 31857278 31857278 Silent SNP C T p.E322E yes
EIF2AK4 15 40265191 40265191 Missense_Mutation SNP C T p.P546S yes
EIF2AK4 15 40327252 40327252 Silent SNP C T p.S1639S yes
EIF2B3 1 45407182 45407182 Frame_Shift_Del DEL T – p.K150fs yes
EIF3C 16 28736246 28736246 Missense_Mutation SNP C T p.R439C yes
EIF3F 11 8013366 8013366 Missense_Mutation SNP T G p.F135V yes
EIF3K 19 39125689 39125689 Nonsense_Mutation SNP C T p.Q99* yes
EIF4B 12 53434001 53434001 Silent SNP C T p.A610A yes
EIF4ENIF1 22 31850262 31850262 Silent SNP T C p.E460E yes
EIF5B 2 99976787 99976787 Missense_Mutation SNP G T p.G42W yes
ELMO3 16 67235918 67235918 Silent SNP C A p.P399P yes
ELMOD3 2 85598623 85598623 Missense_Mutation SNP T C p.L182P yes
ELMSAN1 14 74206054 74206054 Missense_Mutation SNP C A p.A220S yes
ELMSAN1 14 74206061 74206061 Silent SNP G A p.F217F yes
EMILIN1 2 27305793 27305793 Silent SNP C T p.L452L yes
EMILIN2 18 2847282 2847282 Silent SNP G A p.P32P yes
EML5 14 89220953 89220953 Missense_Mutation SNP A G p.I87T yes
EML5 14 89220955 89220955 Nonsense_Mutation SNP A T p.Y86* yes
EML6 2 55191830 55191830 Silent SNP C T p.V1818V yes
EMX2 10 119302972 119302972 Missense_Mutation SNP C A p.S65Y yes
ENAM 4 71508583 71508583 Missense_Mutation SNP G A p.M480I yes
ENDOU 12 48110111 48110111 Silent SNP C T p.K241K yes
ENG 9 130587116 130587116 Silent SNP C G p.P318P yes
ENG 9 130588934 130588934 Silent SNP G A p.T126T yes
ENO3 17 4859966 4859966 Missense_Mutation SNP G A p.C389Y yes
ENO4 10 118618628 118618628 Frame_Shift_Del DEL A – p.K208fs yes
ENOPH1 4 83381175 83381175 Missense_Mutation SNP G A p.V230M yes
ENOSF1 18 690601 690601 Missense_Mutation SNP G A p.A189V yes
ENPP1 6 132193231 132193231 Missense_Mutation SNP G A p.R476Q yes
ENPP2 8 120598463 120598463 Missense_Mutation SNP T C p.I444V yes
ENSA 1 150598138 150598138 Silent SNP G A p.L110L yes
ENTHD2 17 79204369 79204369 Missense_Mutation SNP C T p.G335E yes
ENTHD2 17 79205485 79205485 Silent SNP C T p.E236E yes
ENTPD4 8 23305213 23305213 Missense_Mutation SNP A G p.V131A yes
EP400 12 132446010 132446010 Silent SNP G A p.V282V yes
EPB41 1 29435887 29435887 Silent SNP C T p.L785L yes
EPB42 15 43507309 43507309 Frame_Shift_Del DEL A – p.F138fs yes
EPHA1 7 143096434 143096434 Missense_Mutation SNP G A p.A303V yes
EPHA2 1 16461058 16461058 Silent SNP C T p.P529P yes
EPOR 19 11489156 11489156 Missense_Mutation SNP G A p.A344V yes
EPS15 1 51984902 51984902 Start_Codon_SNP SNP A T p.M1K no
EPS8L2 11 709423 709423 Missense_Mutation SNP G A p.A6T yes
EPX 17 56272511 56272511 Frame_Shift_Del DEL C – p.P262fs yes
ERF 19 42753654 42753654 Missense_Mutation SNP G A p.P204S yes
ERMP1 9 5801291 5801292 Frame_Shift_Ins INS – T p.T651fs yes
ERO1LB 1 236406767 236406767 Missense_Mutation SNP A G p.W154R yes
ERV3-1 7 64453283 64453283 Missense_Mutation SNP A G p.M41T yes
ESCO1 18 19154712 19154712 Silent SNP A G p.S31S yes
ESPL1 12 53679852 53679852 Missense_Mutation SNP C T p.T1111I yes
ETNPPL 4 109663679 109663679 Silent SNP C T p.T487T yes
ETV1 7 13975472 13975473 Frame_Shift_Ins INS – G p.T139fs no
EVC 4 5798885 5798885 Missense_Mutation SNP C T p.R675W yes
EVI5 1 93159366 93159366 Frame_Shift_Del DEL T – p.M408fs yes
EVPL 17 74011703 74011703 Missense_Mutation SNP C T p.A573T yes
EVPL 17 74019417 74019417 Missense_Mutation SNP C T p.V146M yes
EVPL 17 74004672 74004672 Silent SNP G C p.R1538R yes
EWSR1 22 29695717 29695717 Missense_Mutation SNP C T p.R603W no
EXD1 15 41507974 41507974 Splice_Site SNP G A p.A91V yes
EXO1 1 242035466 242035466 Missense_Mutation SNP C A p.P467H yes
EXOC2 6 532556 532556 Missense_Mutation SNP C T p.E765K yes
EXOC3 5 466985 466985 Missense_Mutation SNP G A p.S737N yes
EXOC3L1 16 67218804 67218804 Splice_Site SNP C T yes
EXOC3L1 16 67219269 67219269 Missense_Mutation SNP G T p.L541I yes
EXOC3L1 16 67221291 67221291 Missense_Mutation SNP G C p.L293V yes
EXOC3L1 16 67218678 67218678 Silent SNP C T p.L647L yes
EXOC6 10 94675592 94675592 Missense_Mutation SNP T A p.N247K yes
EXOC7 17 74090651 74090651 Missense_Mutation SNP C T p.V218I yes
EXTL3 8 28574811 28574811 Nonsense_Mutation SNP G A p.W412* yes
EYS 6 66053971 66053971 Missense_Mutation SNP T C p.N520S yes
F3 1 94998748 94998748 Silent SNP C T p.R163R yes
F3 1 94998741 94998741 Missense_Mutation SNP C A p.V166F yes
FADS2 11 61615676 61615676 Missense_Mutation SNP G A p.A222T yes
FAIM2 12 50294961 50294961 Missense_Mutation SNP C G p.A55P yes
FAM109B 22 42473382 42473382 Missense_Mutation SNP G A p.G29S yes
FAM110B 8 59059797 59059797 Silent SNP C T p.D336D yes
FAM114A1 4 38930892 38930892 Missense_Mutation SNP C T p.R367C yes
FAM115A 7 143560662 143560662 Missense_Mutation SNP C G p.G283A yes
FAM117B 2 203560734 203560734 Silent SNP C T p.C244C yes
FAM124A 13 51826086 51826086 Missense_Mutation SNP C T p.R195W yes
FAM129C 19 17641687 17641687 Missense_Mutation SNP G A p.R91H yes
FAM129C 19 17651322 17651322 Silent SNP G T p.L398L yes
FAM131A 3 184062452 184062452 Missense_Mutation SNP G C p.L234F yes
FAM135A 6 71235396 71235396 Missense_Mutation SNP C T p.T870I yes
FAM149A 4 187084703 187084703 Nonsense_Mutation SNP G A p.W611* yes
FAM151A 1 55075472 55075472 Missense_Mutation SNP C G p.W409C yes
FAM160A2 11 6232873 6232873 Missense_Mutation SNP C T p.A928T yes
FAM160A2 11 6232882 6232882 Missense_Mutation SNP C G p.V925L yes
FAM160A2 11 6245477 6245477 Splice_Site SNP A G p.V47A yes
FAM166A 9 140138687 140138687 Silent SNP G A p.H267H yes
FAM171B 2 187611953 187611953 Missense_Mutation SNP A G p.T234A yes
FAM180A 7 135433254 135433254 Splice_Site SNP C G p.R25S yes
FAM189B 1 155220494 155220494 Silent SNP G A p.Y361Y yes
FAM189B 1 155220578 155220578 Silent SNP G A p.A333A yes
FAM189B 1 155223417 155223417 Splice_Site SNP G C p.T207R yes
FAM189B 1 155217645 155217645 Silent SNP G A p.G645G yes
FAM193B 5 176958513 176958513 Missense_Mutation SNP C T p.A316T yes
FAM203A 8 145193462 145193462 Missense_Mutation SNP C T p.R216C yes
FAM20C 7 195555 195555 Splice_Site SNP C T p.P203S yes
FAM214B 9 35107639 35107639 Silent SNP G A p.L211L yes
FAM216A 12 110925741 110925741 Missense_Mutation SNP G A p.M232I yes
FAM220A 7 6370748 6370748 Missense_Mutation SNP G A p.A13V yes
FAM3B 21 42719011 42719011 Missense_Mutation SNP G C p.D157H yes
FAM43A 3 194408139 194408139 Missense_Mutation SNP C T p.A195V yes
FAM45A 10 120877129 120877129 Missense_Mutation SNP T C p.L144P yes
FAM47E 4 77192729 77192729 Silent SNP G A p.S226S yes
FAM53B 10 126311881 126311881 Missense_Mutation SNP C T p.R400H yes
FAM57A 17 641143 641143 Silent SNP G A p.S88S yes
FAM65A 16 67575785 67575785 Nonsense_Mutation SNP C T p.Q370* yes
FAM69B 9 139617823 139617823 Missense_Mutation SNP C A p.T298N yes
FAM78A 9 134136296 134136296 Silent SNP G A p.V255V yes
FANCD2 3 10106107 10106107 Missense_Mutation SNP C T p.P672L no
FANCD2 3 10107083 10107083 Missense_Mutation SNP T C p.V725A no
FAR2 12 29450110 29450111 Frame_Shift_Del DEL AA – p.K176fs yes
FARSA 19 13035000 13035000 Missense_Mutation SNP G C p.N451K yes
FASN 17 80040490 80040490 Missense_Mutation SNP G C p.S1944R yes
FASN 17 80040494 80040494 Missense_Mutation SNP G T p.T1943N yes
FASN 17 80041282 80041283 Frame_Shift_Ins INS – T p.K1787fs yes
FASN 17 80043162 80043162 Silent SNP G A p.I1413I yes
FAXC 6 99771357 99771357 Silent SNP C T p.L262L yes
FBN1 15 48773854 48773854 Missense_Mutation SNP G A p.T1321I yes
FBN1 15 48791195 48791195 Silent SNP C T p.T718T yes
FBN2 5 127627259 127627259 Frame_Shift_Del DEL G – p.P2085fs yes
FBN2 5 127636541 127636541 Frame_Shift_Del DEL G – p.P2045fs yes
FBN3 19 8168544 8168544 Missense_Mutation SNP C T p.G1614D yes
FBRS 16 30678281 30678281 Silent SNP C T p.Y95Y yes
FBRS 16 30680552 30680552 Silent SNP T C p.A323A yes
FBRS 16 30671163 30671163 Silent SNP A G p.E108E yes
FBRSL1 12 133102332 133102332 Missense_Mutation SNP G C p.V168L yes
FBRSL1 12 133159855 133159855 Missense_Mutation SNP G A p.A877T yes
FBRSL1 12 133159572 133159572 Silent SNP G A p.K782K yes
FBXL15 10 104181778 104181778 Missense_Mutation SNP G A p.A148T yes
FBXL16 16 745600 745600 Silent SNP C T p.L319L yes
FBXL16 16 745717 745717 Silent SNP C T p.V280V yes
FBXL18 7 5540599 5540599 Missense_Mutation SNP C T p.R434H yes
FBXL2 3 33400788 33400788 Missense_Mutation SNP T C p.L45S yes
FBXL7 5 15936735 15936735 Missense_Mutation SNP C G p.R306G yes
FBXL8 16 67197354 67197354 Silent SNP G T p.L252L yes
FBXO18 10 5951232 5951232 Missense_Mutation SNP T C p.L332P yes
FBXO33 14 39900962 39900962 Silent SNP G A p.F135F yes
FBXO40 3 121345582 121345582 Nonsense_Mutation SNP G A p.W652* yes
FBXO45 3 196304457 196304457 Missense_Mutation SNP G A p.S151N yes
FBXO9 6 52935842 52935842 Silent SNP T A p.V7V yes
FBXW5 9 139835440 139835440 Silent SNP G A p.L547L yes
FBXW5 9 139836820 139836820 Silent SNP G A p.S258S yes
FCAMR 1 207135692 207135692 Missense_Mutation SNP G A p.T173I yes
FCER1G 1 161187868 161187868 Splice_Site SNP G T yes
FCGR2A 1 161476372 161476372 Missense_Mutation SNP G A p.V119M yes
FCGRT 19 50017572 50017572 Missense_Mutation SNP G A p.D144N yes
FCHSD2 11 72695165 72695165 Missense_Mutation SNP A G p.Y225H yes
FCHSD2 11 72852901 72852901 Splice_Site SNP C T yes
FCRL5 1 157485555 157485555 Splice_Site SNP C A yes
FDFT1 8 11687851 11687851 Silent SNP G A p.L267L yes
FES 15 91428800 91428800 Silent SNP G A p.Q124Q no
FETUB 3 186362544 186362544 Frame_Shift_Del DEL A – p.S143fs yes
FFAR2 19 35940703 35940703 Silent SNP G A p.L29L yes
FGF23 12 4479742 4479742 Missense_Mutation SNP G A p.R175W yes
FGFR3 4 1806212 1806212 Missense_Mutation SNP G A p.V411M no
FGFR4 5 176520519 176520519 Missense_Mutation SNP C T p.P455L no
FGR 1 27942063 27942063 Silent SNP C T p.P300P yes
FHDC1 4 153864507 153864507 Frame_Shift_Del DEL T – p.F101fs yes
FHL3 1 38464732 38464732 Missense_Mutation SNP C T p.C82Y yes
FHOD1 16 67265412 67265412 Missense_Mutation SNP T C p.E809G yes
FIP1L1 4 54319266 54319266 Missense_Mutation SNP C T p.R489C no
FKBP10 17 39974469 39974469 Missense_Mutation SNP G T p.G174C yes
FKBP2 11 64010936 64010936 Missense_Mutation SNP G A p.E100K yes
FLAD1 1 154956396 154956396 Nonsense_Mutation SNP C T p.R76* yes
FLCN 17 17129626 17129626 Missense_Mutation SNP G A p.S87L no
FLJ00104 16 87735666 87735666 Missense_Mutation SNP C T p.S152N yes
FLNA 0 153581526 153581526 Silent SNP C T p.V2023V no
FLNA 0 153585977 153585977 Silent SNP C T p.K1590K no
FLNA 0 153593814 153593814 Silent SNP G A p.L490L no
FLNA 0 153581811 153581811 Missense_Mutation SNP G A p.R1959C no
FLNA 0 153582021 153582021 Missense_Mutation SNP T C p.S1921G no
FLNA 0 153582075 153582075 Missense_Mutation SNP C T p.E1903K no
FLNA 0 153590382 153590382 Missense_Mutation SNP T C p.N931D no
FLT3LG 19 49977911 49977911 Silent SNP G A p.A5A yes
FMN2 1 240255498 240255498 Missense_Mutation SNP G A p.R30K yes
FMN2 1 240371224 240371224 Missense_Mutation SNP G A p.G1038R yes
FNDC4 2 27716907 27716907 Missense_Mutation SNP G A p.T115I yes
FOLR3 11 71850407 71850407 Missense_Mutation SNP G A p.R165H yes
FOXB2 9 79634599 79634599 Missense_Mutation SNP G A p.S10N yes
FOXB2 9 79634744 79634744 Missense_Mutation SNP G C p.Q58H yes
FOXB2 9 79634795 79634795 Silent SNP G C p.P75P yes
FOXB2 9 79635293 79635293 Silent SNP G A p.L241L yes
FOXB2 9 79635350 79635350 Silent SNP G A p.A260A yes
FOXD1 5 72743486 72743486 Silent SNP G A p.A234A yes
FOXE1 9 100617309 100617309 Silent SNP C T p.S371S yes
FOXI2 10 129537131 129537132 Frame_Shift_Ins INS – T p.L287fs yes
FOXL1 16 86612460 86612460 Missense_Mutation SNP C T p.A44V yes
FOXL2 3 138665442 138665442 Silent SNP G A p.G41G no
FOXL2 3 138665466 138665466 Silent SNP G A p.S33S no
FOXQ1 6 1313324 1313324 Missense_Mutation SNP G A p.A129T yes
FOXRED2 22 36902155 36902155 Missense_Mutation SNP G T p.H105Q yes
FOXRED2 22 36902190 36902190 Missense_Mutation SNP T G p.N94H yes
FPGS 9 130575622 130575622 Silent SNP T C p.L501L yes
FPGT-TNNI3K 1 74836080 74836080 Frame_Shift_Del DEL T – p.Y693fs yes
FRAS1 4 79421009 79421009 Missense_Mutation SNP C T p.R3084W yes
FREM2 13 39264011 39264011 Missense_Mutation SNP C T p.H844Y yes
FREM2 13 39261700 39261700 Silent SNP G A p.V73V yes
FREM2 13 39263767 39263767 Silent SNP C T p.V762V yes
FREM2 13 39263776 39263776 Silent SNP C T p.D765D yes
FRK 6 116265508 116265508 Missense_Mutation SNP A G p.S347P yes
FRMD7 0 131234707 131234707 Missense_Mutation SNP C T p.C32Y yes
FRMPD4 0 12735674 12735674 Missense_Mutation SNP A G p.E910G yes
FRS3 6 41743271 41743271 Silent SNP G A p.L47L yes
FRS3 6 41738846 41738847 Frame_Shift_Ins INS – G p.P330fs yes
FRY 13 32799140 32799140 Missense_Mutation SNP C G p.H1663D yes
FRY 13 32799143 32799143 Silent SNP C T p.L1664L yes
FSCB 14 44976139 44976139 Missense_Mutation SNP C A p.A18S yes
FSCB 14 44976140 44976140 Missense_Mutation SNP C A p.M17I yes
FSCN1 7 5642967 5642967 Silent SNP G A p.K304K yes
FSCN1 7 5632686 5632686 Missense_Mutation SNP T C p.L40P yes
FSD1 19 4323558 4323558 Missense_Mutation SNP C A p.T470K yes
FSD1 19 4323146 4323146 Silent SNP C A p.V401V yes
FSD1 19 4323562 4323562 Silent SNP C G p.G471G yes
FSIP2 2 186655523 186655523 Frame_Shift_Del DEL A – p.L1220fs yes
FURIN 15 91421449 91421449 Missense_Mutation SNP C T p.A252V yes
FURIN 15 91424759 91424759 Missense_Mutation SNP G A p.S679N yes
FUT4 11 94277994 94277994 Missense_Mutation SNP C T p.A232V yes
FUT4 11 94278736 94278736 Silent SNP C A p.P479P yes
FXYD3 19 35612149 35612149 Splice_Site SNP G A p.D33N yes
FYB 5 39137722 39137722 Missense_Mutation SNP C T p.E499K yes
FYCO1 3 46006550 46006550 Missense_Mutation SNP G A p.A1042V yes
FZD5 2 208632792 208632792 Silent SNP C T p.Q224Q yes
FZD9 7 72848589 72848589 Nonsense_Mutation SNP C A p.C84* yes
G3BP2 4 76573907 76573907 Missense_Mutation SNP G A p.P282S yes
GAB2 11 77937837 77937837 Missense_Mutation SNP G A p.T294I yes
GABRG1 4 46099305 46099305 Missense_Mutation SNP C T p.A56T yes
GADD45G 9 92220039 92220039 Start_Codon_SNP SNP G T p.M1I yes
GAK 4 887200 887200 Missense_Mutation SNP C G p.A319P yes
GAK 4 887213 887213 Silent SNP C T p.Q314Q yes
GALK1 17 73754433 73754433 Missense_Mutation SNP C T p.C322Y yes
GANAB 11 62398103 62398103 Missense_Mutation SNP C T p.M452I yes
GAPVD1 9 128124918 128124918 Missense_Mutation SNP T C p.Y1444H yes
GARS 7 30634596 30634596 Missense_Mutation SNP T C p.L20P yes
GARS 7 30665908 30665908 Missense_Mutation SNP G A p.V558M yes
GAS1 9 89560856 89560856 Missense_Mutation SNP C A p.G280V yes
GAS2L1 22 29704100 29704100 Missense_Mutation SNP C T p.A2V yes
GAS2L1 22 29704302 29704302 Silent SNP G A p.V69V yes
GAS6 13 114523865 114523865 Missense_Mutation SNP C T p.C670Y yes
GATA6 18 19751523 19751523 Missense_Mutation SNP G A p.A140T yes
GBGT1 9 136029616 136029616 Missense_Mutation SNP G A p.S131L yes
GBX1 7 150845897 150845897 Missense_Mutation SNP G A p.R291C yes
GCC2 2 109106463 109106463 Missense_Mutation SNP C T p.R1408W yes
GDAP1 8 75272481 75272481 Silent SNP C T p.C140C yes
GDF10 10 48429236 48429236 Missense_Mutation SNP C T p.G217D yes
GDF15 19 18499156 18499156 Missense_Mutation SNP G C p.G113A yes
GDF15 19 18499164 18499164 Missense_Mutation SNP G C p.E116Q yes
GDF5OS 20 34022538 34022538 Missense_Mutation SNP G A p.M194I yes
GET4 7 933444 933444 Missense_Mutation SNP T C p.Y272H yes
GFI1 1 92946161 92946161 Silent SNP G A p.S261S yes
GFM2 5 74047243 74047243 Missense_Mutation SNP G A p.A127V yes
GGCX 2 85777183 85777183 Silent SNP G C p.A717A yes
GGPS1 1 235505913 235505913 Frame_Shift_Del DEL A – p.I243fs yes
GH1 17 61994692 61994692 Missense_Mutation SNP C A p.V211L yes
GHRH 20 35882618 35882618 Silent SNP C T p.K101K yes
GIMAP8 7 150171204 150171204 Missense_Mutation SNP G A p.A263T yes
GIPC3 19 3586933 3586933 Missense_Mutation SNP G A p.R178Q yes
GIPC3 19 3590155 3590155 Silent SNP C A p.A302A yes
GJC2 1 228346075 228346075 Missense_Mutation SNP C T p.R206W yes
GJD3 17 38519767 38519767 Missense_Mutation SNP C T p.G101S yes
GLDC 9 6554674 6554674 Silent SNP G A p.I770I yes
GLDC 9 6645354 6645354 Missense_Mutation SNP G C p.A49G yes
GLE1 9 131271255 131271255 Missense_Mutation SNP C T p.S67F yes
GLE1 9 131285075 131285075 Silent SNP G A p.L187L yes
GLIS1 1 53972331 53972331 Missense_Mutation SNP G C p.H608Q yes
GLIS1 1 53972341 53972341 Missense_Mutation SNP G A p.A605V yes
GLT8D2 12 104397027 104397027 Missense_Mutation SNP G A p.A57V yes
GLTSCR1 19 48204663 48204663 Missense_Mutation SNP G A p.G1225D yes
GLUD1 10 88854089 88854089 Silent SNP G A p.C146C yes
GLYR1 16 4862229 4862229 Frame_Shift_Del DEL C – p.G380fs yes
GMDS 6 1726688 1726688 Missense_Mutation SNP C T p.V317M yes
GMPPB 3 49760867 49760867 Missense_Mutation SNP C T p.M56I yes
GNB1 1 1720559 1720559 Silent SNP G A p.R283R yes
GNB1L 22 19776262 19776262 Silent SNP G A p.I318I yes
GNMT 6 42930006 42930006 Missense_Mutation SNP G C p.S88T yes
GNMT 6 42930026 42930026 Missense_Mutation SNP G A p.A95T yes
GOLGA8A 15 34675010 34675010 Missense_Mutation SNP G C p.D365E yes
GOLGA8B 15 34821231 34821231 Missense_Mutation SNP G C p.D365E yes
GOLGA8R 15 30704566 30704566 Missense_Mutation SNP G T p.T45K yes
GOLGB1 3 121411350 121411350 Silent SNP T C p.L2282L yes
GOLM1 9 88692405 88692405 Silent SNP C T p.Q77Q yes
GOLPH3 5 32135775 32135775 Silent SNP A G p.D125D yes
GP1BB 22 19711446 19711446 Missense_Mutation SNP C G p.P27R yes
GP6 19 55538955 55538955 Missense_Mutation SNP C T p.V201M yes
GPAA1 8 145138686 145138686 Missense_Mutation SNP C T p.L146F yes
GPALPP1 13 45602047 45602047 Missense_Mutation SNP G A p.R311Q yes
GPBAR1 2 219128388 219128388 Missense_Mutation SNP G A p.S314N yes
GPBP1 5 56470039 56470039 Splice_Site SNP G A yes
GPCPD1 20 5528460 5528460 Missense_Mutation SNP G T p.F622L yes
GPHN 14 67147842 67147842 Missense_Mutation SNP A G p.R28G no
GPR111 6 47624252 47624252 Missense_Mutation SNP G T p.R10S yes
GPR112 0 135405210 135405210 Missense_Mutation SNP C T p.A115V yes
GPR115 6 47678505 47678505 Missense_Mutation SNP C A p.N61K yes
GPR124 8 37691301 37691301 Silent SNP C G p.V464V yes
GPR124 8 37698365 37698365 Silent SNP C G p.P915P yes
GPR124 8 37699655 37699655 Missense_Mutation SNP G A p.G1267S yes
GPR124 8 37695403 37695403 Silent SNP G A p.Q735Q yes
GPR124 8 37699615 37699615 Silent SNP C G p.S1253S yes
GPR135 14 59931199 59931199 Missense_Mutation SNP G A p.A249V yes
GPR137 11 64054173 64054173 Missense_Mutation SNP G C p.Q59H yes
GPR35 2 241570208 241570208 Missense_Mutation SNP C A p.A280D yes
GPR4 19 46094122 46094122 Missense_Mutation SNP C G p.A335P yes
GPR50 0 150349807 150349807 Silent SNP C A p.I584I yes
GPR6 6 110300981 110300981 Silent SNP G A p.L222L yes
GPR6 6 110300533 110300533 Missense_Mutation SNP A T p.N73I yes
GPR62 3 51990701 51990701 Missense_Mutation SNP C A p.P345T yes
GPR68 14 91701113 91701113 Nonsense_Mutation SNP G T p.C94* yes
GPR97 16 57710226 57710226 Silent SNP C T p.F107F yes
GPR97 16 57719636 57719636 Silent SNP C T p.G446G yes
GPR98 5 89985711 89985711 Missense_Mutation SNP T C p.V2175A yes
GPS1 17 80014374 80014374 Frame_Shift_Del DEL C – p.A359fs yes
GPT 8 145730760 145730760 Silent SNP C T p.D209D yes
GPT2 16 46960869 46960869 Silent SNP C T p.C467C yes
GPX2 14 65406431 65406431 Missense_Mutation SNP G T p.F116L yes
GPX6 6 28483497 28483497 Silent SNP G A p.S8S yes
GRAMD1A 19 35506741 35506741 Silent SNP C T p.A361A yes
GRAMD3 5 125801201 125801201 Missense_Mutation SNP C T p.A56V yes
GRAMD3 5 125819174 125819174 Missense_Mutation SNP C T p.S252L yes
GRASP 12 52400847 52400847 Missense_Mutation SNP C A p.A15E yes
GRHL3 1 24663125 24663125 Silent SNP C T p.P140P yes
GRHPR 9 37426607 37426607 Silent SNP T C p.L120L yes
GRIA3 0 122561868 122561868 Missense_Mutation SNP C T p.L652F yes
GRIN1 9 140043482 140043482 Missense_Mutation SNP G A p.D198N yes
GRIN1 9 140051368 140051368 Missense_Mutation SNP G A p.D283N yes
GRIN2D 19 48908462 48908462 Missense_Mutation SNP C T p.R313W yes
GRIPAP1 0 48839848 48839848 Missense_Mutation SNP G A p.A426V yes
GRK4 4 3029683 3029683 Missense_Mutation SNP G A p.E339K yes
GRK4 4 3015469 3015470 Frame_Shift_Ins INS – A p.Q219fs yes
GRM1 6 146480687 146480687 Missense_Mutation SNP G A p.A302T yes
GRM5 11 88242313 88242313 Missense_Mutation SNP G A p.A1029V yes
GRM6 5 178413979 178413979 Missense_Mutation SNP C T p.A454T yes
GRPEL1 4 7065853 7065853 Missense_Mutation SNP G A p.P54S yes
GRWD1 19 48954330 48954330 Missense_Mutation SNP T C p.W289R yes
GSE1 16 85701940 85701940 Missense_Mutation SNP G A p.D1109N yes
GSK3A 19 42736238 42736238 Frame_Shift_Del DEL C – p.G450fs yes
GSN 9 124093696 124093696 Missense_Mutation SNP G A p.E717K yes
GSN 9 124094801 124094801 Missense_Mutation SNP G A p.V757M yes
GSTK1 7 142961703 142961703 Silent SNP C T p.L73L yes
GSTP1 11 67353884 67353884 Silent SNP C T p.L157L yes
GTF2F2 13 45841414 45841414 Missense_Mutation SNP C T p.A178V yes
GTF2H4 6 30876889 30876889 Missense_Mutation SNP C A p.L26M yes
GTF2IRD1 7 73922417 73922417 Missense_Mutation SNP T G p.L3V yes
GTF3C1 16 27476825 27476825 Missense_Mutation SNP C T p.C1704Y yes
GTF3C1 16 27499667 27499667 Missense_Mutation SNP T C p.Q1194R yes
GTF3C1 16 27494440 27494440 Silent SNP G A p.C1336C yes
GTF3C2 2 27552047 27552047 Silent SNP T C p.E660E yes
GTSE1 22 46724668 46724668 Missense_Mutation SNP G A p.R603H yes
GTSE1 22 46725339 46725339 Missense_Mutation SNP G A p.D671N yes
H1FOO 3 129267896 129267896 Missense_Mutation SNP C T p.T144M yes
H1FX 3 129034306 129034306 Missense_Mutation SNP G A p.A147V yes
H2AFY 5 134679090 134679090 Silent SNP C T p.K271K yes
HABP2 10 115337831 115337831 Nonsense_Mutation SNP C A p.C165* yes
HACE1 6 105297026 105297026 Missense_Mutation SNP G A p.A106V yes
HAPLN1 5 82969329 82969329 Missense_Mutation SNP A G p.L5P yes
HARBI1 11 46637471 46637471 Missense_Mutation SNP T A p.N106I yes
HAS1 19 52220413 52220413 Missense_Mutation SNP C T p.A246T yes
HAS1 19 52220408 52220408 Silent SNP C T p.L247L yes
HBM 16 216425 216425 Missense_Mutation SNP C T p.A84V yes
HCFC1 0 153219100 153219100 Silent SNP G C p.T1485T yes
HCLS1 3 121353096 121353096 Missense_Mutation SNP C A p.E287D yes
HCN3 1 155257792 155257792 Silent SNP C T p.A621A yes
HDAC2 6 114292040 114292040 Frame_Shift_Del DEL T – p.K11fs yes
HDAC4 2 240066342 240066342 Silent SNP G A p.L268L yes
HDAC6 0 48666507 48666507 Missense_Mutation SNP G A p.A234T yes
HDAC7 12 48179169 48179169 Splice_Site SNP C T yes
HDAC7 12 48181527 48181527 Frame_Shift_Del DEL G – p.P768fs yes
HDGF 1 156714089 156714089 Missense_Mutation SNP C T p.A119T yes
HECTD3 1 45476241 45476241 Silent SNP G A p.G169G yes
HECTD3 1 45475319 45475319 Missense_Mutation SNP C T p.A266T yes
HECTD4 12 112696399 112696399 Splice_Site SNP G T p.T578K yes
HECW2 2 197085637 197085637 Frame_Shift_Del DEL C – p.G1392fs yes
HEG1 3 124732182 124732182 Silent SNP C T p.L747L yes
HELZ 17 65105759 65105759 Missense_Mutation SNP C T p.R1321H yes
HELZ 17 65185770 65185770 Missense_Mutation SNP C A p.D267Y yes
HELZ2 20 62194399 62194399 Missense_Mutation SNP G T p.R1926S yes
HEPH 0 65393489 65393489 Frame_Shift_Del DEL G – p.P157fs yes
HERC1 15 63986203 63986203 Frame_Shift_Del DEL T – p.K1878fs yes
HERC1 15 63918207 63918207 Silent SNP G A p.L4418L yes
HERC2 15 28357105 28357105 Missense_Mutation SNP C A p.R4770M yes
HEXDC 17 80395043 80395043 Splice_Site SNP G T yes
HEXDC 17 80397531 80397531 Silent SNP C T p.C308C yes
HEXIM1 17 43227260 43227260 Missense_Mutation SNP G T p.D235Y yes
HGS 17 79663435 79663435 Missense_Mutation SNP G C p.R481P yes
HHATL 3 42734359 42734359 Frame_Shift_Del DEL G – p.Q467fs yes
HHLA2 3 108072366 108072366 Missense_Mutation SNP T G p.F53V yes
HIC1 17 1961770 1961770 Missense_Mutation SNP G A p.V615M yes
HIC1 17 1961115 1961115 Silent SNP C T p.Y396Y yes
HIPK1 1 114511170 114511170 Nonsense_Mutation SNP C T p.Q891* yes
HIST1H1B 6 27835181 27835181 Missense_Mutation SNP C T p.V43I yes
HIST1H3J 6 27858466 27858466 Silent SNP A G p.G35G yes
HIVEP1 6 12089463 12089463 Frame_Shift_Del DEL A – p.S29fs yes
HKDC1 10 70986970 70986970 Missense_Mutation SNP G A p.R24K yes
HKDC1 10 70992652 70992652 Missense_Mutation SNP G A p.R120H yes
HKR1 19 37838697 37838697 Missense_Mutation SNP C A p.P79Q yes
HLA-A 6 29912069 29912069 Missense_Mutation SNP A G p.T264A no
HLA-DPB1 6 33053611 33053611 Silent SNP G A p.V234V yes
HLA-DQA2 6 32713666 32713666 Missense_Mutation SNP A C p.N144H yes
HLA-E 6 30458141 30458141 Silent SNP C T p.S153S yes
HLA-E 6 30459316 30459316 Missense_Mutation SNP C T p.P297S yes
HLA-F 6 29693314 29693314 Missense_Mutation SNP C T p.A326V yes
HMHA1 19 1080520 1080520 Missense_Mutation SNP G T p.S629I yes
HMHA1 19 1068463 1068463 Silent SNP G A p.L47L yes
HNF1B 17 36104727 36104727 Missense_Mutation SNP G A p.P50L yes
HNF1B 17 36104698 36104698 Missense_Mutation SNP G C p.P60A yes
HNF1B 17 36104669 36104669 Silent SNP G A p.H69H yes
HNF1B 17 36104702 36104702 Silent SNP G A p.T58T yes
HNF1B 17 36104723 36104723 Silent SNP G A p.G51G yes
HNRNPDL 4 83350770 83350770 Missense_Mutation SNP C G p.R25P yes
HNRNPH2 0 100667061 100667061 Missense_Mutation SNP C T p.R29C yes
HNRNPL 19 39329157 39329157 Silent SNP T C p.E479E yes
HNRNPM 19 8551022 8551022 Silent SNP C G p.R570R yes
HOGA1 10 99358940 99358940 Missense_Mutation SNP G A p.M145I yes
HOPX 4 57522329 57522329 De_novo_Start_OutOfFrame SNP C T yes
HOXA4 7 27168851 27168851 Missense_Mutation SNP G A p.S319F yes
HOXC4 12 54447941 54447941 Nonsense_Mutation SNP C T p.R79* yes
HPN 19 35550696 35550696 Missense_Mutation SNP G A p.G94S yes
HPS6 10 103825343 103825343 Missense_Mutation SNP C T p.P38S yes
HPSE 4 84222166 84222166 Silent SNP C T p.K473K yes
HRC 19 49657075 49657075 Missense_Mutation SNP T C p.R474G yes
HS3ST1 4 11401030 11401030 Missense_Mutation SNP C T p.M200I yes
HSF1 8 145515529 145515529 Missense_Mutation SNP C A p.D30E yes
HSH2D 19 16268506 16268506 Silent SNP G A p.Q320Q yes
HSPA13 21 15753637 15753637 Missense_Mutation SNP C T p.V85I yes
HSPA2 14 65007594 65007594 Silent SNP C T p.G9G yes
HSPA4 5 132439652 132439652 Silent SNP G A p.L751L yes
HSPA4 5 132426948 132426948 Missense_Mutation SNP A G p.K481R yes
HSPA5 9 128001763 128001763 Missense_Mutation SNP C T p.R181H yes
HSPA6 1 161494731 161494731 Missense_Mutation SNP C T p.R95W yes
HSPA6 1 161495184 161495184 Missense_Mutation SNP G A p.E246K yes
HSPBP1 19 55777649 55777649 Missense_Mutation SNP C T p.V216I yes
HSPG2 1 22211037 22211037 Silent SNP T C p.Q546Q yes
HTR3A 11 113857308 113857308 Silent SNP C T p.V258V yes
HTT 4 3189607 3189607 Missense_Mutation SNP T C p.F1740S yes
HTT 4 3214390 3214390 Missense_Mutation SNP C T p.P2243L yes
HUS1B 6 656854 656854 Missense_Mutation SNP C T p.V31M yes
HUWE1 0 53629552 53629552 Missense_Mutation SNP C A p.G982C yes
HVCN1 12 111099094 111099094 Missense_Mutation SNP G A p.P61S yes
HYAL1 3 50339698 50339698 Silent SNP G A p.D230D yes
HYAL3 3 50332211 50332211 Missense_Mutation SNP G A p.H275Y yes
HYAL4 7 123508657 123508657 Silent SNP A G p.G110G yes
HYAL4 7 123508571 123508571 Missense_Mutation SNP G A p.A82T yes
HYDIN 16 70916799 70916799 Splice_Site SNP C A yes
HYDIN 16 70977853 70977853 Splice_Site SNP C A yes
IBTK 6 82925866 82925866 Missense_Mutation SNP G A p.H510Y yes
ICAM4 19 10398005 10398005 Missense_Mutation SNP C T p.A106V yes
ICAM4 19 10397991 10397991 Silent SNP G A p.L101L yes
IER5 1 181058129 181058129 Missense_Mutation SNP C T p.H31Y yes
IFFO1 12 6657974 6657974 Frame_Shift_Del DEL C – p.G363fs yes
IFI16 1 159002320 159002320 Frame_Shift_Del DEL A – p.K391fs yes
IFITM1 11 315045 315045 Silent SNP C T p.L104L yes
IFNAR1 21 34715721 34715721 Missense_Mutation SNP G C p.G175A yes
IFNGR1 6 137540463 137540463 Start_Codon_SNP SNP A G p.M1T yes
IFNL3 19 39734651 39734651 Silent SNP G T p.A135A yes
IFT122 3 129226558 129226558 Missense_Mutation SNP C T p.R947C yes
IFT140 16 1614090 1614090 Missense_Mutation SNP G A p.R659W yes
IFT172 2 27684636 27684636 Missense_Mutation SNP G A p.A728V yes
IGDCC3 15 65622886 65622886 Splice_Site SNP A C yes
IGDCC3 15 65627120 65627120 Missense_Mutation SNP G C p.L257V yes
IGDCC3 15 65625725 65625725 Silent SNP G T p.I284I yes
IGDCC4 15 65702619 65702619 Missense_Mutation SNP C T p.V154M yes
IGDCC4 15 65703613 65703613 Missense_Mutation SNP T A p.N56Y yes
IGDCC4 15 65678271 65678271 Silent SNP G C p.P1026P yes
IGDCC4 15 65702617 65702617 Silent SNP C T p.V154V yes
IGF1 12 102813418 102813418 Missense_Mutation SNP T C p.I91V yes
IGF2R 6 160517511 160517511 Silent SNP C T p.C2232C yes
IGFBP2 2 217498685 217498685 Missense_Mutation SNP G A p.A147T yes
IGLON5 19 51831953 51831953 Silent SNP G A p.P317P yes
IGSF8 1 160063797 160063798 Frame_Shift_Ins INS – A p.G203fs yes
IGSF9B 11 133807380 133807380 Silent SNP G A p.D190D yes
IKBKG 0 153788652 153788652 Missense_Mutation SNP G C p.Q183H yes
IKZF1 7 50450265 50450265 Missense_Mutation SNP G A p.C150Y no
IKZF3 17 37922401 37922401 Missense_Mutation SNP C T p.S391N yes
IL11 19 55877466 55877466 Frame_Shift_Del DEL C – p.G170fs yes
IL13RA1 0 117895209 117895209 Missense_Mutation SNP T C p.V262A yes
IL13RA2 0 114242508 114242508 Silent SNP T C p.K328K yes
IL16 15 81601030 81601030 Missense_Mutation SNP G A p.R1297Q yes
IL16 15 81565452 81565452 Frame_Shift_Del DEL G – p.G234fs yes
IL17D 13 21278289 21278289 Missense_Mutation SNP T A p.V50E yes
IL17RE 3 9957171 9957171 Missense_Mutation SNP G A p.A562T yes
IL1RAP 3 190326798 190326798 Missense_Mutation SNP G A p.C122Y yes
IL23A 12 56733219 56733219 Missense_Mutation SNP G C p.E58Q yes
IL4I1 19 50393156 50393156 Missense_Mutation SNP G A p.T492M yes
IL6R 1 154401756 154401756 Missense_Mutation SNP C T p.T57I yes
ILKAP 2 239112156 239112156 Silent SNP C T p.S13S yes
IMP3 15 75932228 75932228 Silent SNP C T p.S94S yes
IMPDH1 7 128045919 128045919 Splice_Site SNP G A p.S85S yes
INF2 14 105174325 105174325 Missense_Mutation SNP C T p.S574F yes
INF2 14 105177343 105177343 Splice_Site SNP A G p.Y770C yes
INF2 14 105176518 105176518 Silent SNP C T p.A744A yes
INHBE 12 57849377 57849377 Missense_Mutation SNP C A p.Q20K yes
INHBE 12 57850532 57850532 Silent SNP T A p.T318T yes
INO80 15 41319847 41319847 Missense_Mutation SNP G A p.R999C yes
INPP5A 10 134594374 134594374 Missense_Mutation SNP G A p.V371I yes
INPP5E 9 139329221 139329221 Missense_Mutation SNP C A p.V303L yes
INSIG1 7 155093347 155093347 Missense_Mutation SNP G A p.A162T yes
INSRR 1 156818817 156818817 Silent SNP G A p.F489F yes
INSRR 1 156823818 156823818 Silent SNP T C p.P121P yes
INTS6 13 51948909 51948909 Missense_Mutation SNP C T p.A585T yes
IPO9 1 201817614 201817614 Missense_Mutation SNP G A p.A136T yes
IPP 1 46206888 46206888 Silent SNP G A p.L137L yes
IQCC 1 32671832 32671832 Silent SNP C T p.V40V yes
IQGAP2 5 75969412 75969412 Silent SNP G A p.L1069L yes
IQGAP3 1 156502873 156502873 Silent SNP G A p.H1334H yes
IQSEC3 12 248132 248132 Missense_Mutation SNP C T p.R535W yes
IRAK1 0 153279549 153279554 In_Frame_Del DEL GGCCCA – p.LG493del yes
IRF2BP2 1 234744440 234744440 Silent SNP C T p.R267R yes
IRF2BP2 1 234743251 234743251 Missense_Mutation SNP G T p.Q466K yes
IRF2BPL 14 77492540 77492540 Silent SNP C T p.P532P yes
IRF9 14 24634153 24634153 Missense_Mutation SNP A G p.Y327C yes
IRGC 19 44223940 44223940 Silent SNP G A p.Q410Q yes
IRS2 13 110434625 110434625 Missense_Mutation SNP C T p.R1259K yes
ISG20 15 89198721 89198721 Missense_Mutation SNP C G p.R169G yes
ISG20L2 1 156694023 156694023 Frame_Shift_Del DEL G – p.L289fs yes
ISY1 3 128859235 128859235 Missense_Mutation SNP C A p.V132F yes
ISYNA1 19 18547256 18547256 Missense_Mutation SNP G A p.R215W yes
ISYNA1 19 18545726 18545726 Silent SNP G A p.T558T yes
ISYNA1 19 18547248 18547248 Silent SNP G A p.S217S yes
ITGA7 12 56092632 56092632 Missense_Mutation SNP C T p.R331H yes
ITGAD 16 31404695 31404695 Missense_Mutation SNP C A p.T5N yes
ITGAL 16 30500477 30500477 Splice_Site SNP G A yes
ITGAL 16 30528317 30528317 Silent SNP C T p.H962H yes
ITGB4 17 73729577 73729577 Silent SNP C T p.G487G yes
ITPKA 15 41795297 41795297 Missense_Mutation SNP G A p.R440H yes
ITPR1 3 4816972 4816972 Missense_Mutation SNP G A p.C1994Y yes
ITPRIP 10 106075717 106075717 Silent SNP G T p.P31P yes
IVL 1 152882382 152882382 Missense_Mutation SNP C T p.P37S yes
IZUMO1 19 49248532 49248532 Silent SNP C T p.L83L yes
IZUMO1 19 49246706 49246706 Silent SNP G A p.C165C yes
JAG2 14 105609941 105609941 Missense_Mutation SNP C T p.S1040N yes
JAK3 19 17943338 17943338 Silent SNP G A p.S890S no
JAK3 19 17941359 17941359 Missense_Mutation SNP G T p.L1017M no
JHDM1D 7 139790938 139790938 Missense_Mutation SNP T C p.I928V yes
JMJD6 17 74717895 74717895 Nonsense_Mutation SNP G T p.S309* yes
JMJD8 16 733684 733684 Splice_Site DEL C – yes
JPH3 16 87678042 87678042 Silent SNP C T p.G187G yes
JUNB 19 12903072 12903072 Missense_Mutation SNP G C p.G163R yes
JUNB 19 12903554 12903554 Silent SNP G A p.Q323Q yes
KAAG1 6 24357989 24357989 Nonsense_Mutation SNP G A p.W41* yes
KALRN 3 124385943 124385943 Missense_Mutation SNP G T p.V508F yes
KALRN 3 124390564 124390564 Missense_Mutation SNP C T p.S556F yes
KANK2 19 11303717 11303717 Missense_Mutation SNP C A p.A347S yes
KANK2 19 11303746 11303746 Missense_Mutation SNP C T p.R337Q yes
KANK3 19 8398856 8398856 Silent SNP G A p.G524G yes
KAT7 17 47882804 47882804 Silent SNP C T p.C220C no
KBTBD11 8 1950160 1950160 Missense_Mutation SNP C G p.R268G yes
KBTBD11 8 1950643 1950643 Missense_Mutation SNP G A p.D429N yes
KBTBD11 8 1949734 1949734 Missense_Mutation SNP C T p.P126S yes
KBTBD11 8 1950126 1950126 Silent SNP C T p.Y256Y yes
KBTBD2 7 32914702 32914702 Missense_Mutation SNP C T p.A80T yes
KCNA7 19 49575728 49575728 Silent SNP G A p.L39L yes
KCNB1 20 47991284 47991284 Silent SNP C T p.L271L yes
KCND3 1 112524830 112524830 Silent SNP G A p.F173F yes
KCNH2 7 150645972 150645972 Missense_Mutation SNP C T p.S855N yes
KCNH7 2 163695026 163695026 Start_Codon_SNP SNP C G p.M1I yes
KCNJ11 11 17408971 17408971 Missense_Mutation SNP G A p.T223I yes
KCNJ11 11 17409004 17409004 Missense_Mutation SNP C T p.S212N yes
KCNK4 11 64066893 64066893 Missense_Mutation SNP G A p.A293T yes
KCNK7 11 65360619 65360619 Nonsense_Mutation SNP G A p.Q261* yes
KCNK9 8 140630673 140630673 Missense_Mutation SNP A G p.F318S yes
KCNMA1 10 79397059 79397059 Silent SNP C G p.L114L yes
KCNMA1 10 78868297 78868297 Missense_Mutation SNP C T p.E389K yes
KCNN4 19 44278563 44278563 Missense_Mutation SNP G A p.A155V yes
KCNQ2 20 62038704 62038704 Missense_Mutation SNP C A p.D638Y yes
KCNV1 8 110984673 110984673 Missense_Mutation SNP G A p.R269C yes
KCTD12 13 77459978 77459978 Silent SNP C T p.V102V yes
KCTD13 16 29918196 29918196 Silent SNP G A p.D329D yes
KCTD3 1 215793953 215793953 Missense_Mutation SNP G C p.S814T yes
KCTD7 7 66098345 66098345 Missense_Mutation SNP G T p.M76I yes
KDM2A 11 67018110 67018110 Missense_Mutation SNP C T p.A870V yes
KDM3A 2 86705750 86705750 Silent SNP C T p.D736D yes
KDM4B 19 5144015 5144015 Missense_Mutation SNP C T p.S863L yes
KDM4D 11 94731676 94731676 Silent SNP C T p.H380H yes
KEAP1 19 10602484 10602484 Missense_Mutation SNP A T p.L365Q no
KHDC1 6 73951784 73951784 Missense_Mutation SNP C A p.A170S yes
KHK 2 27310169 27310169 Silent SNP G A p.L14L yes
KHSRP 19 6418051 6418051 Missense_Mutation SNP C T p.D307N yes
KIAA0195 17 73487433 73487433 Missense_Mutation SNP G A p.S428N yes
KIAA0195 17 73489628 73489628 Missense_Mutation SNP G T p.D715Y yes
KIAA0556 16 27788264 27788264 Missense_Mutation SNP G A p.V1489M yes
KIAA0754 1 39877578 39877578 Silent SNP G A p.Q411Q yes
KIAA0754 1 39877608 39877608 Silent SNP C T p.H421H yes
KIAA0825 5 93805780 93805780 Silent SNP T C p.E586E yes
KIAA0895L 16 67213348 67213348 Silent SNP G A p.L278L yes
KIAA1161 9 34372674 34372674 Missense_Mutation SNP C T p.A56T yes
KIAA1244 6 138632587 138632587 Silent SNP C T p.P1380P yes
KIAA1257 3 128695821 128695821 Splice_Site SNP C T yes
KIAA1279 10 70775738 70775738 Missense_Mutation SNP G A p.A478T yes
KIAA1522 1 33235545 33235545 Silent SNP C T p.R196R yes
KIAA1522 1 33233494 33233495 Frame_Shift_Ins INS – C p.P56fs yes
KIAA1549 7 138554321 138554321 Missense_Mutation SNP C T p.A1580T no
KIAA1549L 11 33581458 33581458 Splice_Site SNP G A yes
KIAA1551 12 32137192 32137192 Silent SNP A T p.A1101A yes
KIAA1586 6 56918579 56918579 Missense_Mutation SNP G A p.D428N yes
KIAA1586 6 56918455 56918456 Frame_Shift_Ins INS – T p.F387fs yes
KIAA1919 6 111587361 111587361 Frame_Shift_Del DEL T – p.I199fs yes
KIAA2013 1 11983102 11983102 Missense_Mutation SNP A G p.I493T yes
KIAA2013 1 11985795 11985795 Missense_Mutation SNP G A p.A167V yes
KIAA2022 0 73961532 73961532 Missense_Mutation SNP G C p.Q954E yes
KIAA2026 9 5922427 5922427 Missense_Mutation SNP A G p.V1190A yes
KIF1A 2 241660425 241660425 Missense_Mutation SNP C T p.D1491N yes
KIF1B 1 10396721 10396721 Missense_Mutation SNP A T p.E1017V yes
KIF26B 1 245319797 245319797 Missense_Mutation SNP G A p.G93S yes
KIF6 6 39581089 39581089 Missense_Mutation SNP A G p.V172A yes
KIF7 15 90171904 90171904 Frame_Shift_Del DEL G – p.R1260fs yes
KIF7 15 90190249 90190249 Silent SNP G A p.L534L yes
KIF7 15 90192426 90192426 Silent SNP G A p.R234R yes
KIFC3 16 57805334 57805334 Missense_Mutation SNP G A p.R181C yes
KLB 4 39448250 39448267 In_Frame_Del DEL TCTCCGCGATGGTCACCC – p.635_641ISAMVTL>M yes
KLC3 19 45851230 45851230 Silent SNP G A p.Q197Q yes
KLC3 19 45851350 45851350 Silent SNP G A p.L237L yes
KLC3 19 45854245 45854245 Silent SNP C T p.N471N yes
KLF13 15 31664346 31664346 Missense_Mutation SNP G C p.M237I yes
KLF16 19 1854682 1854682 Missense_Mutation SNP G C p.R179G yes
KLF16 19 1854686 1854686 Missense_Mutation SNP G T p.H177Q yes
KLF16 19 1863207 1863207 Frame_Shift_Del DEL C – p.G97fs yes
KLF2 19 16436229 16436229 Missense_Mutation SNP C A p.S93Y yes
KLHDC10 7 129760653 129760653 Silent SNP C T p.N180N yes
KLHDC9 1 161068443 161068443 Missense_Mutation SNP T C p.F40L yes
KLHL1 13 70514343 70514343 Silent SNP G A p.T281T yes
KLHL10 17 39998107 39998107 Frame_Shift_Del DEL A – p.E76fs yes
KLHL18 3 47385294 47385294 Missense_Mutation SNP G A p.G530R yes
KLHL21 1 6653489 6653489 Missense_Mutation SNP C T p.S577N yes
KLHL22 22 20819669 20819669 Silent SNP G A p.V196V yes
KLHL29 2 23865357 23865357 Missense_Mutation SNP G A p.V193M yes
KLHL38 8 124663843 124663843 Missense_Mutation SNP T C p.M442V yes
KLHL41 2 170366495 170366496 Frame_Shift_Ins INS – A p.K70fs yes
KLHL42 12 27933339 27933339 Nonsense_Mutation SNP C T p.Q26* yes
KLHL5 4 39064178 39064178 Missense_Mutation SNP G A p.S15N yes
KLRG2 7 139168266 139168266 Silent SNP A G p.P41P yes
KMT2D 12 49420629 49420629 Silent SNP G A p.D5040D no
KMT2D 12 49427682 49427682 Silent SNP T C p.Q3602Q no
KMT2D 12 49447261 49447261 Silent SNP G A p.C279C no
KMT2D 12 49415907 49415907 Silent SNP G A p.N5480N no
KMT2D 12 49420760 49420760 Missense_Mutation SNP G T p.Q4997K no
KMT2D 12 49424086 49424086 Missense_Mutation SNP C T p.R4659Q no
KMT2D 12 49425227 49425227 Missense_Mutation SNP C T p.E4421K no
KPNA6 1 32635599 32635599 Missense_Mutation SNP A G p.Q454R yes
KRT71 12 52940107 52940107 Missense_Mutation SNP C T p.A430T yes
KRTAP10-12 21 46117409 46117409 Frame_Shift_Del DEL C – p.S98fs yes
KRTAP5-9 11 71260169 71260169 Missense_Mutation SNP C G p.Q156E yes
KSR2 12 117977638 117977638 Missense_Mutation SNP T C p.T525A yes
KSR2 12 118199142 118199142 Silent SNP C A p.V220V yes
KYNU 2 143643019 143643019 Missense_Mutation SNP G T p.R28M yes
L3MBTL1 20 42142665 42142665 Silent SNP A G p.T86T yes
LAIR1 19 54871671 54871671 Missense_Mutation SNP C G p.G125R yes
LAIR1 19 54882030 54882030 De_novo_Start_OutOfFrame SNP C T yes
LAMA1 18 7015784 7015784 Missense_Mutation SNP C A p.Q1021H yes
LAMA2 6 129637218 129637218 Silent SNP C T p.V1320V yes
LAMA2 6 129714239 129714239 Missense_Mutation SNP C T p.R1762W yes
LAMA3 18 21523852 21523852 Missense_Mutation SNP C T p.R3043C yes
LAMA3 18 21390427 21390427 Silent SNP C T p.D567D yes
LAMA4 6 112480001 112480001 Missense_Mutation SNP G T p.H584N yes
LAMA5 20 60887013 60887013 Missense_Mutation SNP C T p.A3200T yes
LAMA5 20 60892729 60892729 Missense_Mutation SNP G T p.Q2449K yes
LAMB2 3 49160647 49160647 Missense_Mutation SNP C T p.S1381N yes
LAMC2 1 183191289 183191289 Missense_Mutation SNP C A p.H236N yes
LAMP3 3 182871682 182871682 Nonsense_Mutation SNP G A p.Q183* yes
LAMTOR2 1 156025186 156025186 Silent SNP C T p.D67D yes
LAPTM4B 8 98788285 98788285 Silent SNP C T p.C16C yes
LARP1B 4 129131154 129131154 Silent SNP A G p.P897P yes
LARP1B 4 129120593 129120593 Splice_Site SNP G A yes
LAT2 7 73639062 73639062 Missense_Mutation SNP C T p.T241I yes
LBP 20 36982762 36982762 Silent SNP C T p.S149S yes
LCN10 9 139633990 139633990 Missense_Mutation SNP G A p.T184I yes
LCN10 9 139633999 139633999 Missense_Mutation SNP C T p.R181H yes
LDHB 12 21794896 21794896 Silent SNP G A p.G195G yes
LDLR 19 11230771 11230771 Missense_Mutation SNP A G p.K617E yes
LENG8 19 54967288 54967288 Missense_Mutation SNP G A p.A390T yes
LENG8 19 54967582 54967582 Silent SNP G A p.K461K yes
LENG9 19 54974367 54974367 Missense_Mutation SNP G A p.P137S yes
LETM1 4 1823963 1823963 Missense_Mutation SNP G A p.T518I yes
LGALS3BP 17 76967812 76967812 Missense_Mutation SNP G T p.T535N yes
LGI4 19 35616318 35616318 Missense_Mutation SNP G T p.Q465K yes
LGI4 19 35616319 35616319 Silent SNP G A p.D464D yes
LHX2 9 126776307 126776307 Missense_Mutation SNP G A p.R63H yes
LIFR 5 38496518 38496518 Silent SNP T C p.P617P no
LIG3 17 33310486 33310486 Frame_Shift_Del DEL A – p.T154fs yes
LIG3 17 33323122 33323122 Frame_Shift_Del DEL G – p.G552fs yes
LILRA6 19 54744862 54744862 Missense_Mutation SNP C G p.R267P yes
LIME1 20 62368942 62368942 Missense_Mutation SNP G A p.V14I yes
LIMS1 2 109292390 109292390 Missense_Mutation SNP G T p.C184F yes
LIN7A 12 81242092 81242092 Missense_Mutation SNP A T p.Y71N yes
LIPG 18 47093884 47093884 Missense_Mutation SNP G A p.V118I yes
LMAN2 5 176761357 176761357 Missense_Mutation SNP G A p.H280Y yes
LMBRD2 5 36105213 36105213 Missense_Mutation SNP C T p.A662T yes
LMF1 16 1020922 1020922 Missense_Mutation SNP G C p.T20S yes
LMF2 22 50942819 50942819 Silent SNP G A p.Y556Y yes
LMO2 11 33886321 33886321 Silent SNP C A p.L28L no
LMO2 11 33890910 33890910 Missense_Mutation SNP T C p.K8R no
LMO7 13 76369561 76369562 Frame_Shift_Ins INS – A p.K167fs yes
LMO7 13 76429456 76429456 Silent SNP C T p.A1341A yes
LMOD1 1 201869424 201869424 Missense_Mutation SNP C T p.M239I yes
LMOD3 3 69167927 69167927 Missense_Mutation SNP G T p.P527T yes
LMTK2 7 97823461 97823461 Silent SNP G A p.T1228T yes
LNPEP 5 96315249 96315249 Frame_Shift_Del DEL A – p.K144fs yes
LOXL2 8 23155605 23155605 Frame_Shift_Del DEL T – p.K759fs yes
LOXL3 2 74761761 74761761 Missense_Mutation SNP G A p.H574Y yes
LPGAT1 1 211956583 211956583 Missense_Mutation SNP C A p.A239S yes
LPIN3 20 39986589 39986589 Missense_Mutation SNP C A p.L703M yes
LPIN3 20 39987089 39987089 Missense_Mutation SNP C T p.A773V yes
LPPR3 19 813247 813247 Missense_Mutation SNP C A p.V494L yes
LPPR3 19 813429 813429 Missense_Mutation SNP C T p.R433H yes
LPPR3 19 812823 812823 Missense_Mutation SNP G C p.P635R yes
LPPR3 19 812907 812907 Missense_Mutation SNP G C p.A607G yes
LPPR3 19 813864 813864 Frame_Shift_Del DEL G – p.P289fs yes
LPPR3 19 812843 812843 Silent SNP G A p.F628F yes
LRCH4 7 100172869 100172869 Missense_Mutation SNP G A p.A638V yes
LRFN1 19 39798290 39798290 Silent SNP G A p.L767L yes
LRFN3 19 36430600 36430600 Silent SNP G A p.S91S yes
LRP4 11 46889653 46889653 Missense_Mutation SNP A G p.V1655A yes
LRP4 11 46900514 46900514 Missense_Mutation SNP C T p.S1027N yes
LRP4 11 46916149 46916149 Missense_Mutation SNP C T p.E511K yes
LRRC10 12 70004491 70004491 Missense_Mutation SNP C T p.R43H yes
LRRC16B 14 24538136 24538136 Silent SNP C T p.L1315L yes
LRRC16B 14 24527175 24527175 Silent SNP T C p.G408G yes
LRRC24 8 145748197 145748197 Missense_Mutation SNP C T p.A402T yes
LRRC24 8 145748211 145748211 Missense_Mutation SNP C T p.R397H yes
LRRC25 19 18507402 18507402 Silent SNP G A p.H124H yes
LRRC29 16 67241636 67241636 Missense_Mutation SNP C T p.V182M yes
LRRC4 7 127669688 127669688 Nonsense_Mutation SNP G A p.R336* yes
LRRC41 1 46751804 46751804 Missense_Mutation SNP A C p.L242R yes
LRRC45 17 79988653 79988653 Missense_Mutation SNP C A p.P662H yes
LRRC45 17 79986153 79986153 Missense_Mutation SNP C T p.A364V yes
LRRC56 11 551221 551221 Missense_Mutation SNP C T p.P239S yes
LRRC8A 9 131670290 131670290 Missense_Mutation SNP G A p.V283I yes
LRRC8E 19 7965054 7965054 Silent SNP G T p.V549V yes
LRRK1 15 101566284 101566284 Missense_Mutation SNP C A p.R783S yes
LRRK1 15 101605806 101605806 Missense_Mutation SNP G A p.E1722K yes
LRRK1 15 101605803 101605803 Silent SNP C T p.L1721L yes
LRRK2 12 40692970 40692970 Missense_Mutation SNP T C p.L1136P yes
LRRN3 7 110763657 110763657 Missense_Mutation SNP A G p.R277G yes
LRWD1 7 102110314 102110314 Missense_Mutation SNP A C p.Q476P yes
LTB 6 31548686 31548686 Missense_Mutation SNP G A p.L179F yes
LTBP3 11 65310628 65310628 Silent SNP G A p.Y848Y yes
LTBP3 11 65314957 65314957 Missense_Mutation SNP C T p.C687Y yes
LTBP3 11 65318619 65318619 Silent SNP C T p.E566E yes
LTBP4 19 41132911 41132911 Frame_Shift_Del DEL C – p.R1405fs yes
LTF 3 46496842 46496842 Missense_Mutation SNP T C p.E197G yes
LUC7L3 17 48823344 48823344 Missense_Mutation SNP T G p.S319R yes
LZTS2 10 102765424 102765424 Silent SNP G A p.E426E yes
MAATS1 3 119463018 119463018 Missense_Mutation SNP G A p.R626Q yes
MACC1 7 20199427 20199427 Missense_Mutation SNP C T p.R186H no
MACF1 1 39905168 39905168 Missense_Mutation SNP C T p.A6047V yes
MAGEC2 0 141290957 141290957 Missense_Mutation SNP G T p.L273I yes
MAGT1 0 77130968 77130968 Missense_Mutation SNP T C p.M77V yes
MAMDC4 9 139749538 139749538 Missense_Mutation SNP C G p.D391E yes
MAMDC4 9 139753552 139753552 Missense_Mutation SNP C G p.Q1018E yes
MAML1 5 179201597 179201597 Missense_Mutation SNP C T p.P924S yes
MAML1 5 179201600 179201600 Nonsense_Mutation SNP C T p.Q925* yes
MAML3 4 140810906 140810906 Nonsense_Mutation SNP G A p.Q562* yes
MAMSTR 19 49217639 49217639 Missense_Mutation SNP G A p.A236V yes
MAN1A2 1 118039461 118039461 Frame_Shift_Del DEL A – p.E454fs yes
MAN1B1 9 140000682 140000682 Missense_Mutation SNP G T p.G454C yes
MAN2A2 15 91448627 91448627 Silent SNP G A p.T93T yes
MAN2C1 15 75648542 75648542 Missense_Mutation SNP G A p.R969C yes
MAP1S 19 17837843 17837843 Missense_Mutation SNP C A p.N550K yes
MAP2K7 19 7975225 7975225 Silent SNP C A p.R138R yes
MAP3K1 5 56160674 56160674 Silent SNP G A p.L316L no
MAP3K1 5 56111581 56111581 Missense_Mutation SNP C A p.Q61K no
MAP3K10 19 40698306 40698306 Missense_Mutation SNP C T p.A123V yes
MAP3K11 11 65375283 65375283 Silent SNP G A p.C101C yes
MAP3K12 12 53880845 53880845 Nonsense_Mutation SNP G A p.R78* yes
MAP3K2 2 128079791 128079791 Frame_Shift_Del DEL C – p.G292fs yes
MAP3K4 6 161469829 161469829 Frame_Shift_Del DEL A – p.P175fs yes
MAP3K6 1 27683216 27683216 Missense_Mutation SNP G T p.P1130Q yes
MAP3K6 1 27683219 27683219 Missense_Mutation SNP G A p.S1129L yes
MAP3K6 1 27683225 27683225 Missense_Mutation SNP G A p.A1127V yes
MAP3K6 1 27688011 27688011 Splice_Site SNP C T p.Q562Q yes
MAP3K9 14 71199776 71199776 Silent SNP C T p.L770L yes
MAP4 3 47917277 47917277 Silent SNP G A p.P740P yes
MAP4K2 11 64567121 64567121 Missense_Mutation SNP C T p.R317Q yes
MAP4K4 2 102493571 102493571 Silent SNP C T p.D971D yes
MAP4K4 2 102505295 102505295 Silent SNP G A p.E1178E yes
MAP6 11 75379378 75379378 Missense_Mutation SNP C T p.A13T yes
MAP7D1 1 36642443 36642443 Splice_Site DEL G – p.S460fs yes
MAPK12 22 50694296 50694296 Missense_Mutation SNP C T p.V212M yes
MAPK15 8 144798551 144798551 Missense_Mutation SNP T C p.C2R yes
MAPK3 16 30134429 30134429 Silent SNP C T p.Q34Q yes
MAPK6 15 52338880 52338880 Missense_Mutation SNP G A p.D75N yes
MAPK8IP2 22 51041619 51041619 Missense_Mutation SNP G A p.G20S yes
MAPK8IP3 16 1813667 1813667 Silent SNP G A p.T635T yes
MAPK8IP3 16 1816363 1816363 Silent SNP C T p.V923V yes
MAPKBP1 15 42104801 42104801 Missense_Mutation SNP G T p.G196C yes
MARCH2 19 8495617 8495617 Missense_Mutation SNP C T p.P150S yes
MARK2 11 63671514 63671514 Missense_Mutation SNP C T p.A490V yes
MAST1 19 12969517 12969517 Missense_Mutation SNP C T p.R444W yes
MAST1 19 12978713 12978713 Missense_Mutation SNP G A p.A830T yes
MAST1 19 12981879 12981879 Silent SNP G A p.T1052T yes
MAST3 19 18258316 18258316 Silent SNP C T p.F1092F yes
MAX 14 65560509 65560509 Missense_Mutation SNP C T p.A30T no
MAZ 16 29818358 29818358 Missense_Mutation SNP C A p.D84E yes
MAZ 16 29818475 29818475 Missense_Mutation SNP C G p.D123E yes
MAZ 16 29818472 29818472 Silent SNP G A p.V122V yes
MBD1 18 47803458 47803458 Splice_Site SNP A G yes
MBD6 12 57921002 57921002 Frame_Shift_Del DEL C – p.P693fs yes
MBTD1 17 49279424 49279424 Missense_Mutation SNP G T p.Q360K yes
MBTD1 17 49294709 49294709 Missense_Mutation SNP T C p.T158A yes
MBTPS1 16 84103636 84103636 Frame_Shift_Del DEL T – p.N597fs yes
MCC 5 112364660 112364661 Frame_Shift_Del DEL CT – p.E760fs yes
MCCC1 3 182810240 182810240 Missense_Mutation SNP G A p.A77V yes
MCHR2 6 100382358 100382358 Frame_Shift_Del DEL A – p.F208fs yes
MCM2 3 127318273 127318273 Missense_Mutation SNP C T p.S40F yes
MCM2 3 127318284 127318284 Missense_Mutation SNP C G p.R44G yes
MCM3 6 52134009 52134009 Missense_Mutation SNP C T p.A615T yes
MCM3AP 21 47693331 47693331 Missense_Mutation SNP C T p.V723M yes
MCM4 8 48883337 48883337 Silent SNP C T p.D567D yes
MCMBP 10 121596422 121596422 Missense_Mutation SNP T C p.R512G yes
MCRS1 12 49958615 49958615 Missense_Mutation SNP G A p.R118C yes
MCU 10 74620268 74620268 Missense_Mutation SNP T C p.V160A yes
MDN1 6 90397095 90397095 Silent SNP C T p.Q3806Q yes
ME1 6 84056000 84056000 Silent SNP A G p.C164C yes
MED1 17 37563944 37563945 Frame_Shift_Del DEL TT – p.K1510fs yes
MED13L 12 116446617 116446617 Missense_Mutation SNP C T p.R534K yes
MED15 22 20920824 20920824 Missense_Mutation SNP A G p.Q254R yes
MED15 22 20937526 20937526 Missense_Mutation SNP A G p.K555R yes
MED15 22 20937530 20937530 Missense_Mutation SNP C G p.N556K yes
MED16 19 877024 877024 Missense_Mutation SNP C T p.V504M yes
MED16 19 886015 886015 Missense_Mutation SNP G A p.R212C yes
MED16 19 873512 873512 Silent SNP C T p.L614L yes
MEF2C 5 88047673 88047673 Splice_Site SNP C T yes
MEGF8 19 42841030 42841030 Missense_Mutation SNP G A p.R439Q yes
MEGF9 9 123476136 123476136 Silent SNP G A p.P167P yes
MEN1 11 64572588 64572588 Nonsense_Mutation SNP C T p.W428* no
MEPCE 7 100028874 100028874 Silent SNP C T p.R411R yes
MEPCE 7 100028997 100028997 Silent SNP C T p.C452C yes
MEPCE 7 100028068 100028068 Frame_Shift_Del DEL G – p.G147fs yes
MESDC1 15 81295600 81295600 Missense_Mutation SNP G A p.A330T yes
MESP1 15 90293882 90293882 Missense_Mutation SNP G A p.A194V yes
MFHAS1 8 8748990 8748990 Missense_Mutation SNP C G p.V527L yes
MFHAS1 8 8750494 8750494 Silent SNP C A p.L25L yes
MFI2 3 196754655 196754655 Missense_Mutation SNP G T p.S59Y yes
MFI2 3 196754665 196754665 Missense_Mutation SNP G A p.R56W yes
MFI2 3 196730256 196730256 Missense_Mutation SNP G A p.P735L yes
MFI2 3 196730267 196730267 Silent SNP G A p.A731A yes
MFN1 3 179109831 179109831 Missense_Mutation SNP G A p.S737N yes
MFRP 11 119216509 119216509 Missense_Mutation SNP G A p.S134L yes
MGRN1 16 4731617 4731617 Missense_Mutation SNP G A p.A400T yes
MGRN1 16 4733224 4733224 Splice_Site SNP G A yes
MGRN1 16 4731685 4731685 Silent SNP C G p.G422G yes
MIB1 18 19418392 19418392 Silent SNP T C p.G632G yes
MICAL1 6 109775386 109775386 Missense_Mutation SNP G A p.T5I yes
MICAL1 6 109774519 109774520 Frame_Shift_Ins INS – C p.V173fs yes
MICAL3 22 18354781 18354781 Missense_Mutation SNP C T p.M750I yes
MICALL1 22 38323799 38323799 Missense_Mutation SNP C T p.S616F yes
MICALL1 22 38328582 38328582 Missense_Mutation SNP C T p.P680L yes
MICB 6 31475046 31475046 Silent SNP C T p.S287S yes
MIDN 19 1254329 1254329 Missense_Mutation SNP G A p.S183N yes
MIDN 19 1254258 1254258 Silent SNP G A p.Q159Q yes
MIIP 1 12089883 12089883 Silent SNP C T p.P259P yes
MINK1 17 4797827 4797827 Missense_Mutation SNP C A p.S939Y yes
MIOX 22 50928183 50928183 Silent SNP C T p.F252F yes
MIS18BP1 14 45716070 45716070 Missense_Mutation SNP C A p.Q140H yes
MIS18BP1 14 45693722 45693722 Frame_Shift_Del DEL T – p.S690fs yes
MLC1 22 50515325 50515325 Missense_Mutation SNP C T p.S181N yes
MLH1 3 37056021 37056021 Missense_Mutation SNP T C p.L259S no
MLH3 14 75498839 75498839 Frame_Shift_Del DEL T – p.K1253fs yes
MLPH 2 238402100 238402100 Missense_Mutation SNP A G p.T11A yes
MLST8 16 2258309 2258309 Silent SNP G A p.L224L yes
MMP15 16 58079054 58079054 Missense_Mutation SNP G A p.V572M yes
MMP25 16 3108186 3108186 Silent SNP C T p.P337P yes
MMS19 10 99219889 99219889 Missense_Mutation SNP T C p.H857R yes
MOGAT3 7 100844048 100844048 Missense_Mutation SNP C T p.V30M yes
MOGS 2 74690325 74690325 Silent SNP C T p.K256K yes
MON1A 3 49946787 49946787 Silent SNP G A p.L484L yes
MON2 12 62946753 62946753 Silent SNP G A p.E1003E yes
MON2 12 62946758 62946758 Missense_Mutation SNP G T p.G1005V yes
MOV10L1 22 50537935 50537935 Missense_Mutation SNP G A p.G116S yes
MPDZ 9 13147603 13147603 Missense_Mutation SNP G A p.R1229W yes
MPDZ 9 13206055 13206055 Missense_Mutation SNP A G p.V445A yes
MPP1 0 154009550 154009550 Silent SNP G A p.F396F yes
MPV17L2 19 18304755 18304755 Missense_Mutation SNP C T p.S90F yes
MPZ 1 161276195 161276195 Silent SNP G A p.L170L yes
MR1 1 181018268 181018268 Missense_Mutation SNP G A p.V50M yes
MROH1 8 145234423 145234423 Silent SNP T C p.S78S yes
MROH1 8 145235222 145235222 Missense_Mutation SNP G A p.A148T yes
MROH6 8 144649784 144649784 Nonsense_Mutation SNP G A p.Q644* yes
MROH6 8 144654212 144654212 Missense_Mutation SNP C A p.L146F yes
MROH6 8 144649427 144649427 Silent SNP G T p.S714S yes
MROH6 8 144651617 144651617 Silent SNP C T p.L490L yes
MROH6 8 144653106 144653106 Silent SNP G A p.L221L yes
MROH7 1 55166946 55166946 Missense_Mutation SNP G A p.S1079N yes
MRPL12 17 79673960 79673960 Missense_Mutation SNP G A p.A124T yes
MRPL18 6 160218466 160218466 Silent SNP A G p.G129G yes
MRPL2 6 43023302 43023302 Missense_Mutation SNP G A p.P229L yes
MRPL20 1 1342328 1342328 Silent SNP G A p.C53C yes
MRPL27 17 48447460 48447460 Splice_Site SNP C G p.G58A yes
MRPL37 1 54670845 54670845 Silent SNP T C p.T167T yes
MRPL47 3 179311676 179311676 Missense_Mutation SNP T A p.D137V yes
MRPS7 17 73261903 73261903 Silent SNP C T p.L210L yes
MSH6 2 48030639 48030640 Frame_Shift_Ins INS – C p.T1085fs no
MSI2 17 55729465 55729465 Missense_Mutation SNP C T p.P245S no
MSI2 17 55729490 55729490 Missense_Mutation SNP C T p.A253V no
MST1R 3 49928686 49928686 Missense_Mutation SNP C G p.M1196I yes
MST1R 3 49928683 49928683 Missense_Mutation SNP C A p.E1197D yes
MT1G 16 56700862 56700862 Missense_Mutation SNP C T p.V40M yes
MTA1 14 105936411 105936411 Silent SNP C T p.R669R yes
MTCH2 11 47663940 47663940 Silent SNP C T p.V26V yes
MT-CO2 0 7775 7775 Missense_Mutation SNP G A p.V64I yes
MT-CYB 0 14979 14979 Missense_Mutation SNP T C p.I78T yes
MTERF 7 91503024 91503024 Nonsense_Mutation SNP G A p.R362* yes
MTF1 1 38280925 38280925 Missense_Mutation SNP C T p.M715I yes
MTHFD1 14 64894193 64894193 Splice_Site SNP T C yes
MTHFD1L 6 151355724 151355724 Silent SNP T C p.R894R yes
MTMR11 1 149905407 149905407 Missense_Mutation SNP G A p.L293F yes
MTMR4 17 56573262 56573262 Silent SNP G T p.G747G yes
MTOR 1 11188544 11188544 Silent SNP C T p.Q1959Q no
MTOR 1 11269410 11269410 Missense_Mutation SNP G T p.P1254T no
MTOR 1 11292532 11292532 Missense_Mutation SNP C T p.M825I no
MTOR 1 11313912 11313912 Missense_Mutation SNP C G p.S275T no
MUC16 19 9067905 9067905 Missense_Mutation SNP A G p.L6514P no
MUC19 12 40843507 40843507 Frame_Shift_Del DEL T – p.A1068fs yes
MUC2 11 1081718 1081718 Missense_Mutation SNP C T p.T549M yes
MUC3A 7 100551559 100551559 Missense_Mutation SNP G C p.V104L yes
MUC4 3 195501119 195501119 Missense_Mutation SNP G A p.T98I no
MUM1 19 1366318 1366318 Silent SNP G A p.R434R yes
MUTYH 1 45795019 45795019 Missense_Mutation SNP T G p.I534L no
MVD 16 88721765 88721765 Silent SNP G T p.R247R yes
MXRA5 0 3241259 3241259 Missense_Mutation SNP C T p.A823T yes
MYBPC1 12 102041849 102041849 Silent SNP C T p.L348L yes
MYBPC3 11 47356682 47356682 Missense_Mutation SNP C T p.R939Q yes
MYBPHL 1 109838930 109838930 Nonsense_Mutation SNP G A p.Q265* yes
MYBPHL 1 109839718 109839718 Missense_Mutation SNP G A p.T175I yes
MYCBPAP 17 48602286 48602286 Nonsense_Mutation SNP C T p.Q605* yes
MYCN 2 16086046 16086046 Missense_Mutation SNP G A p.V408M no
MYH14 19 50726603 50726603 Frame_Shift_Del DEL C – p.V230fs yes
MYH6 14 23866415 23866415 Missense_Mutation SNP C T p.V672M yes
MYH7B 20 33568400 33568400 Missense_Mutation SNP G A p.C163Y yes
MYH7B 20 33568533 33568533 Silent SNP G A p.L207L yes
MYO15B 17 73601662 73601662 Missense_Mutation SNP T C p.L148P yes
MYO18A 17 27493817 27493817 Silent SNP G A p.L48L yes
MYO19 17 34883388 34883388 Silent SNP C T p.Q98Q yes
MYO1A 12 57422573 57422573 Frame_Shift_Del DEL T – p.K1033fs yes
MYO1C 17 1375254 1375254 Silent SNP G A p.R621R yes
MYO1E 15 59564636 59564636 Missense_Mutation SNP C T p.V6I yes
MYO1F 19 8620555 8620555 Silent SNP G A p.D43D yes
MYO5B 18 47421343 47421343 Missense_Mutation SNP C T p.A1005T yes
MYO6 6 76599775 76599775 Splice_Site SNP C T p.S887F yes
MYOM1 18 3083989 3083990 Frame_Shift_Ins INS – T p.I1459fs yes
MYOT 5 137223035 137223035 Silent SNP G A p.L486L yes
MYOZ3 5 150052061 150052061 Missense_Mutation SNP A T p.N195I yes
MYRF 11 61543606 61543606 Splice_Site SNP T C yes
MYRF 11 61536779 61536779 Missense_Mutation SNP C T p.P149L yes
N4BP1 16 48595680 48595680 Nonsense_Mutation SNP C A p.E292* yes
N4BP2 4 40103891 40103891 Silent SNP G A p.L142L no
NACA 12 57110844 57110844 Silent SNP G T p.P1490P no
NACA 12 57112440 57112440 Silent SNP G A p.S958S no
NACA 12 57114195 57114195 Silent SNP G T p.A373A no
NACA 12 57111180 57111180 Silent SNP G A p.H1378H no
NACA 12 57110820 57110820 Silent SNP G T p.A1498A no
NACA 12 57110389 57110389 Missense_Mutation SNP A T p.V1642E no
NACA 12 57110432 57110432 Missense_Mutation SNP G A p.P1628S no
NACA 12 57111790 57111790 Missense_Mutation SNP G C p.P1175R no
NACA 12 57112229 57112229 Missense_Mutation SNP G A p.P1029S no
NACA 12 57110819 57110819 Missense_Mutation SNP G T p.P1499T no
NACC1 19 13247173 13247173 Missense_Mutation SNP G C p.K358N yes
NAGLU 17 40688646 40688646 Missense_Mutation SNP G T p.G119V yes
NALCN 13 102029334 102029334 Missense_Mutation SNP A G p.M150T yes
NAPSA 19 50862792 50862792 Missense_Mutation SNP C G p.A302P yes
NAPSA 19 50862799 50862799 Silent SNP C T p.L299L yes
NAPSA 19 50862805 50862805 Silent SNP C T p.R297R yes
NARFL 16 786396 786396 Missense_Mutation SNP C T p.M103I yes
NARFL 16 787330 787330 Splice_Site SNP C T yes
NARS 18 55283171 55283171 Missense_Mutation SNP T C p.I44V yes
NAT10 11 34135345 34135345 Missense_Mutation SNP G A p.R152Q yes
NAV2 11 20066745 20066745 Missense_Mutation SNP G A p.S1167N yes
NBEAL1 2 204009838 204009838 Missense_Mutation SNP G A p.M1724I yes
NBEAL2 3 47050069 47050069 Silent SNP G A p.L2646L yes
NBR1 17 41352288 41352290 In_Frame_Del DEL GAG – p.E714del yes
NCAM1 11 113103000 113103000 Missense_Mutation SNP G T p.R322L yes
NCAPD3 11 134048586 134048586 Frame_Shift_Del DEL G – p.Q909fs yes
NCAPG2 7 158483326 158483326 Silent SNP A T p.P157P yes
NCAPH2 22 50961255 50961255 Silent SNP C T p.L477L yes
NCKAP5 2 134275089 134275089 Silent SNP T C p.G3G yes
NCKAP5L 12 50190362 50190362 Silent SNP T C p.S427S yes
NCKIPSD 3 48716824 48716824 Missense_Mutation SNP G T p.P519H no
NCOA7 6 126210841 126210841 Silent SNP T C p.D547D yes
NDUFA10 2 240929545 240929545 Silent SNP C T p.P315P yes
NDUFB4 3 120315285 120315285 Missense_Mutation SNP C T p.P27S yes
NDUFB4 3 120315286 120315286 Missense_Mutation SNP C T p.P27L yes
NDUFS7 19 1393309 1393309 Missense_Mutation SNP C A p.P175H yes
NDUFS8 11 67803783 67803783 Missense_Mutation SNP G A p.D146N yes
NDUFV1 11 67375929 67375929 Silent SNP G A p.L45L yes
NEB 2 152423827 152423827 Missense_Mutation SNP G A p.A4303V yes
NECAB1 8 91804132 91804132 Silent SNP G A p.E6E yes
NEIL2 8 11637301 11637301 Silent SNP C T p.G111G yes
NEK6 9 127074892 127074892 Silent SNP G C p.L65L yes
NELFB 9 140161458 140161458 Silent SNP T C p.T386T yes
NELFB 9 140160826 140160826 Missense_Mutation SNP G T p.G348V yes
NES 1 156642080 156642080 Nonsense_Mutation SNP C A p.E634* yes
NET1 10 5497082 5497082 Splice_Site SNP G A yes
NEU1 6 31827653 31827653 Missense_Mutation SNP C A p.W364L yes
NEU2 2 233899333 233899335 In_Frame_Del DEL AGA – p.R237del yes
NEU4 2 242755769 242755769 Missense_Mutation SNP G A p.V30M yes
NEURL 10 105344727 105344727 Missense_Mutation SNP C A p.P362T yes
NFASC 1 204921238 204921238 Frame_Shift_Del DEL C – p.A70fs yes
NFASC 1 204924033 204924033 Frame_Shift_Del DEL C – p.N163fs yes
NFATC1 18 77156232 77156232 Missense_Mutation SNP G A p.S3N yes
NFIB 9 14146701 14146701 Silent SNP G A p.H304H no
NFIC 19 3433553 3433553 Silent SNP C T p.G224G yes
NFIX 19 13136070 13136070 Missense_Mutation SNP G A p.R88H yes
NFKBID 19 36381297 36381297 Silent SNP C T p.L234L yes
NFKBIL1 6 31526283 31526283 Silent SNP G A p.L347L yes
NFXL1 4 47900818 47900819 Frame_Shift_Ins INS – T p.V349fs yes
NHSL1 6 138745372 138745372 Missense_Mutation SNP G T p.A1560E yes
NHSL1 6 138745811 138745811 Silent SNP G T p.R1414R yes
NICN1 3 49466582 49466582 Silent SNP G A p.L31L yes
NIN 14 51238111 51238111 Missense_Mutation SNP T C p.T353A no
NIN 14 51223354 51223354 Missense_Mutation SNP G A p.T1465I no
NIT2 3 100067717 100067717 Silent SNP G A p.Q192Q yes
NKPD1 19 45655281 45655281 Missense_Mutation SNP G A p.T583I yes
NKRF 0 118724116 118724116 Silent SNP G A p.C424C yes
NLK 17 26370135 26370135 Missense_Mutation SNP C A p.A79D yes
NLRC5 16 57059295 57059295 Missense_Mutation SNP A G p.Y147C yes
NLRC5 16 57108571 57108571 Missense_Mutation SNP A G p.Q1576R yes
NLRP9 19 56220311 56220311 Silent SNP G A p.D981D yes
NOC2L 1 880116 880116 Silent SNP C A p.P736P yes
NOC2L 1 886518 886518 Missense_Mutation SNP A G p.F478L yes
NOD1 7 30491485 30491485 Silent SNP G A p.F516F yes
NOD1 7 30492225 30492225 Missense_Mutation SNP C T p.A270T yes
NOL10 2 10729751 10729751 Frame_Shift_Del DEL T – p.R517fs yes
NOL3 16 67208288 67208288 Silent SNP C T p.A72A yes
NOL6 9 33470076 33470076 Silent SNP G A p.G164G yes
NOL8 9 95077140 95077140 Missense_Mutation SNP C G p.L589F yes
NOL9 1 6586829 6586829 Frame_Shift_Del DEL G – p.P629fs yes
NOLC1 10 103921617 103921617 Nonsense_Mutation SNP C T p.R626* yes
NOMO1 16 14968988 14968988 Missense_Mutation SNP G A p.R717H yes
NOMO2 16 18538869 18538869 Silent SNP C T p.L628L yes
NOP14 4 2940605 2940605 Nonsense_Mutation SNP G A p.Q843* yes
NOS1AP 1 162326902 162326902 Missense_Mutation SNP G T p.Q305H yes
NOS2 17 26108073 26108073 Missense_Mutation SNP C T p.E285K yes
NOS3 7 150698480 150698480 Silent SNP C T p.V465V yes
NOS3 7 150696097 150696097 Nonsense_Mutation SNP C T p.Q294* yes
NOTCH1 9 139407531 139407531 Silent SNP C T p.Q803Q no
NOTCH1 9 139401817 139401817 Missense_Mutation SNP C T p.G1195R no
NOTCH2 1 120611980 120611980 Missense_Mutation SNP G A p.A14V no
NOTCH3 19 15295170 15295170 Missense_Mutation SNP G C p.S834R yes
NOTCH3 19 15291790 15291790 Silent SNP G A p.F992F yes
NOTCH3 19 15311639 15311639 Silent SNP C G p.A26A yes
NPAS1 19 47542392 47542392 Missense_Mutation SNP A G p.K263E yes
NPAS1 19 47548514 47548514 Missense_Mutation SNP G A p.G460S yes
NPAS1 19 47539319 47539319 Missense_Mutation SNP C T p.P207L yes
NPAS1 19 47539322 47539322 Missense_Mutation SNP C A p.P208Q yes
NPAS1 19 47539314 47539314 Silent SNP C T p.P205P yes
NPAS1 19 47525046 47525046 Silent SNP C T p.F100F yes
NPDC1 9 139937424 139937424 Nonsense_Mutation SNP C A p.E72* yes
NPDC1 9 139937499 139937499 Missense_Mutation SNP C G p.D47H yes
NPEPPS 17 45669398 45669398 Missense_Mutation SNP G A p.R446Q yes
NPHS1 19 36335046 36335046 Missense_Mutation SNP G T p.S724Y yes
NPHS1 19 36342202 36342202 Missense_Mutation SNP G T p.P120H yes
NPIPA1 16 15031358 15031358 Missense_Mutation SNP C T p.A20V yes
NPM3 10 103543136 103543136 Silent SNP A G p.G4G yes
NPR1 1 153653075 153653075 Missense_Mutation SNP G A p.D274N yes
NPR3 5 32784914 32784914 Missense_Mutation SNP A G p.E480G yes
NPY4R 10 47087394 47087394 Missense_Mutation SNP C A p.S204Y yes
NR1D1 17 38252831 38252831 Frame_Shift_Del DEL G – p.R158fs yes
NR1I2 3 119526131 119526131 Missense_Mutation SNP G A p.A51T yes
NR2F2 15 96877454 96877454 Missense_Mutation SNP A G p.S198G yes
NR2F6 19 17343355 17343355 Missense_Mutation SNP C T p.A341T yes
NR3C1 5 142680236 142680236 Missense_Mutation SNP C T p.V521I yes
NR4A3 9 102590616 102590618 In_Frame_Del DEL CAC – p.H108del no
NRD1 1 52301876 52301876 Silent SNP C T p.A281A yes
NRGN 11 124615582 124615582 Missense_Mutation SNP G A p.A67T yes
NRP2 2 206628597 206628597 Missense_Mutation SNP G T p.E748D yes
NSD1 5 176700691 176700691 Missense_Mutation SNP C T p.A1843V no
NSUN5 7 72718297 72718297 Silent SNP C T p.A288A yes
NT5C 17 73127631 73127631 Missense_Mutation SNP C T p.A58T yes
NTAN1 16 15135486 15135486 Missense_Mutation SNP C T p.V161M yes
NTRK1 1 156843687 156843687 Silent SNP C A p.S371S no
NTRK1 1 156849842 156849842 Silent SNP C T p.L700L no
NUCB1 19 49422529 49422529 Missense_Mutation SNP G C p.G330R yes
NUDT10 0 51075965 51075965 Frame_Shift_Del DEL G – p.G51fs yes
NUDT13 10 74881992 74881992 Silent SNP C T p.L95L yes
NUGGC 8 27886894 27886894 Frame_Shift_Del DEL T – p.K681fs yes
NUMB 14 73822401 73822401 Missense_Mutation SNP C G p.S20T yes
NUMBL 19 41179503 41179503 Missense_Mutation SNP T A p.H261L yes
NUMBL 19 41183204 41183204 Silent SNP G A p.R221R yes
NUP153 6 17629252 17629252 Missense_Mutation SNP C A p.V1060L yes
NUP160 11 47833665 47833665 Missense_Mutation SNP C T p.C731Y yes
NUP188 9 131745647 131745647 Silent SNP C T p.R624R yes
NUP214 9 134007993 134007993 Frame_Shift_Del DEL A – p.E225fs no
NUP98 11 3720389 3720389 Frame_Shift_Del DEL T – p.N1311fs no
NUPL1 13 25895081 25895081 Silent SNP A G p.Q267Q yes
NUPL2 7 23224773 23224773 Frame_Shift_Del DEL G – p.W69fs yes
NVL 1 224484314 224484314 Missense_Mutation SNP C T p.A357T yes
NXF1 11 62569052 62569052 Missense_Mutation SNP C A p.G231C yes
NXNL2 9 91150528 91150528 Missense_Mutation SNP G C p.R60P yes
NXNL2 9 91150586 91150586 Missense_Mutation SNP G C p.M79I yes
NYAP1 7 100084523 100084523 Missense_Mutation SNP G A p.A50T yes
NYAP1 7 100084787 100084787 Frame_Shift_Del DEL C – p.P139fs yes
NYNRIN 14 24877325 24877325 Frame_Shift_Del DEL C – p.T150fs yes
OBSL1 2 220416909 220416909 Missense_Mutation SNP G C p.L1780V yes
OCEL1 19 17337849 17337849 Missense_Mutation SNP C T p.P98L yes
OCEL1 19 17339722 17339722 Silent SNP C T p.S261S yes
OGDHL 10 50964851 50964851 Missense_Mutation SNP C T p.A116T yes
OPA1 3 193363416 193363416 Splice_Site SNP T C yes
OPLAH 8 145106360 145106360 Missense_Mutation SNP A G p.L1245P yes
OPLAH 8 145108014 145108014 Missense_Mutation SNP C A p.V964L yes
OPN1SW 7 128413938 128413938 Missense_Mutation SNP G A p.A231V yes
OR10AD1 12 48596998 48596998 Silent SNP C T p.L26L yes
OR13C4 9 107288696 107288696 Silent SNP C T p.Q265Q yes
OR13C8 9 107331900 107331900 Missense_Mutation SNP C G p.T151S yes
OR1J1 9 125240169 125240169 Missense_Mutation SNP G C p.L13V yes
OR1J4 9 125282313 125282313 Frame_Shift_Del DEL G – p.K298fs yes
OR1Q1 9 125377105 125377105 Frame_Shift_Del DEL T – p.V30fs yes
OR2C3 1 247695521 247695521 Missense_Mutation SNP C T p.C98Y yes
OR2L13 1 248263376 248263376 Frame_Shift_Del DEL A – p.R233fs yes
OR4L1 14 20528247 20528247 Missense_Mutation SNP T C p.L15P yes
OR51B6 11 5373022 5373022 Nonsense_Mutation SNP C A p.C95* yes
OR51E2 11 4703475 4703475 Frame_Shift_Del DEL A – p.F156fs yes
OR52A5 11 5153785 5153785 Missense_Mutation SNP C G p.G30R yes
OR5H15 3 97888265 97888265 Missense_Mutation SNP G A p.C241Y yes
OR5J2 11 55944229 55944229 Missense_Mutation SNP A G p.I46V yes
OR5M9 11 56230712 56230712 Missense_Mutation SNP G A p.P56S yes
OR5R1 11 56185256 56185257 Frame_Shift_Ins INS – TA p.Y151fs yes
OR6C75 12 55759694 55759694 Missense_Mutation SNP C T p.T267I yes
OR8B12 11 124413141 124413141 Missense_Mutation SNP C G p.C137S yes
OR8B12 11 124413142 124413142 Missense_Mutation SNP A G p.C137R yes
ORAI2 7 102079595 102079595 Silent SNP C T p.S64S yes
ORC4 2 148705658 148705658 Missense_Mutation SNP C A p.D242Y yes
OS9 12 58114587 58114587 Silent SNP C A p.A633A yes
OTX2 14 57271016 57271016 Missense_Mutation SNP G A p.R47W yes
OVGP1 1 111969218 111969218 Missense_Mutation SNP C T p.S34N yes
OXA1L 14 23235748 23235748 Silent SNP C T p.Y6Y yes
OXER1 2 42991089 42991089 Frame_Shift_Del DEL C – p.G77fs yes
P2RX1 17 3807627 3807627 Missense_Mutation SNP G T p.Q142K yes
P2RX4 12 121654994 121654994 Silent SNP T A p.V64V yes
P2RX7 12 121615167 121615167 Missense_Mutation SNP C T p.P369L yes
P2RY11 19 10225061 10225061 Missense_Mutation SNP G A p.A258T yes
P2RY13 3 151046376 151046376 Frame_Shift_Del DEL T – p.K156fs yes
P2RY2 11 72945930 72945930 Silent SNP G A p.K242K yes
PABPC5 0 90690776 90690776 Missense_Mutation SNP G A p.R67H yes
PADI1 1 17567192 17567192 Silent SNP C T p.I565I yes
PADI4 1 17685333 17685333 Splice_Site DEL A – p.K522fs yes
PAK4 19 39669139 39669139 Silent SNP C T p.L566L yes
PAK4 19 39663606 39663606 Silent SNP C T p.L85L yes
PAK6 15 40557106 40557106 Nonsense_Mutation SNP G A p.W40* yes
PALB2 16 23641384 23641384 Silent SNP G A p.G697G no
PAM16 16 4391436 4391436 Missense_Mutation SNP C G p.G53A yes
PAN2 12 56713412 56713412 Missense_Mutation SNP T C p.Q1032R yes
PAN2 12 56720579 56720579 Nonsense_Mutation SNP C A p.E362* yes
PANX2 22 50615894 50615894 Silent SNP G A p.T251T yes
PAPLN 14 73721333 73721333 Missense_Mutation SNP C T p.T472I yes
PAPOLG 2 60995979 60995980 Frame_Shift_Ins INS – T p.SF131fs yes
PAQR6 1 156214027 156214027 Silent SNP G A p.L310L yes
PARD6G 18 77917938 77917938 Missense_Mutation SNP G A p.R283C yes
PARP10 8 145051839 145051839 Frame_Shift_Del DEL G – p.P964fs yes
PARP11 12 3938173 3938173 Silent SNP T C p.S57S yes
PARP4 13 25026617 25026617 Nonsense_Mutation SNP G A p.Q981* yes
PARPBP 12 102542228 102542229 Frame_Shift_Del DEL AC – p.N125fs yes
PARVG 22 44601697 44601697 Missense_Mutation SNP G A p.V292I yes
PAX4 7 127255971 127255971 De_novo_Start_OutOfFrame SNP G A yes
PBRM1 3 52696162 52696162 Missense_Mutation SNP G A p.T172I no
PBXIP1 1 154918920 154918920 Silent SNP C T p.Q410Q yes
PBXIP1 1 154918867 154918867 Missense_Mutation SNP C A p.G428V yes
PCBP1 2 70315790 70315790 Silent SNP C T p.I305I no
PCDH15 10 55568533 55568533 Silent SNP T C p.V1759V yes
PCDH7 4 30725051 30725051 Silent SNP G A p.G669G yes
PCDH8 13 53420887 53420887 Missense_Mutation SNP T C p.Y562C yes
PCDHA13 5 140263789 140263789 Missense_Mutation SNP C T p.R646C yes
PCDHA3 5 140182316 140182316 Missense_Mutation SNP G A p.A512T yes
PCDHB12 5 140590290 140590290 Missense_Mutation SNP A G p.Y604C yes
PCDHGA1 5 140711037 140711037 Silent SNP C A p.L262L yes
PCDHGA1 5 140710697 140710697 Missense_Mutation SNP G A p.G149D yes
PCDHGA10 5 140792923 140792923 Missense_Mutation SNP C G p.R61G yes
PCDHGA7 5 140762651 140762651 Missense_Mutation SNP G A p.R62H yes
PCDHGB3 5 140752018 140752018 Missense_Mutation SNP C T p.A686V yes
PCLO 7 82784937 82784937 Silent SNP C T p.K340K yes
PCLO 7 82538318 82538318 Missense_Mutation SNP G A p.R4438C yes
PCLO 7 82581883 82581883 Missense_Mutation SNP T C p.T2796A yes
PCNX 14 71514624 71514624 Missense_Mutation SNP T C p.F1421L yes
PCSK1 5 95748134 95748134 Missense_Mutation SNP T C p.N257S yes
PCSK5 9 78682883 78682883 Silent SNP C T p.R215R yes
PCYOX1 2 70504435 70504435 Missense_Mutation SNP G A p.A477T yes
PCYT1A 3 195974385 195974385 Silent SNP G A p.C113C yes
PCYT2 17 79864645 79864645 Missense_Mutation SNP C T p.D223N yes
PCYT2 17 79866444 79866444 Splice_Site SNP C T p.R136K yes
PDCD11 10 105178266 105178266 Missense_Mutation SNP C G p.R661G yes
PDCL3 2 101183005 101183005 Missense_Mutation SNP A G p.K16R yes
PDE1A 2 183105017 183105017 Missense_Mutation SNP C A p.R73I yes
PDE2A 11 72301017 72301017 Silent SNP C T p.Q255Q yes
PDE3B 11 14810677 14810677 Missense_Mutation SNP C T p.T435I yes
PDE4A 19 10568747 10568747 Missense_Mutation SNP T C p.V357A yes
PDE4A 19 10571710 10571710 Missense_Mutation SNP G T p.A466S yes
PDGFRB 5 149509531 149509531 Splice_Site SNP C G p.R456S no
PDHX 11 35006264 35006264 Missense_Mutation SNP G T p.D391Y yes
PDIA5 3 122865025 122865025 Missense_Mutation SNP C T p.T354M yes
PDLIM7 5 176910662 176910662 Missense_Mutation SNP C T p.A453T yes
PDPK1 16 2631339 2631339 Missense_Mutation SNP G A p.A277T yes
PDPR 16 70154465 70154465 Missense_Mutation SNP T A p.S24T yes
PDZD2 5 32089711 32089711 Missense_Mutation SNP A C p.S2053R yes
PDZD7 10 102789802 102789802 Nonsense_Mutation SNP G A p.R59* yes
PEAK1 15 77473738 77473738 Silent SNP C T p.L177L yes
PEAR1 1 156883542 156883542 Silent SNP C T p.F901F yes
PENK 8 57358435 57358435 Nonsense_Mutation SNP G T p.C26* yes
PER1 17 8053982 8053982 Missense_Mutation SNP T C p.R15G no
PER2 2 239176800 239176800 Silent SNP G A p.P288P yes
PEX16 11 45935399 45935399 Silent SNP C T p.L286L yes
PEX16 11 45935915 45935915 Nonsense_Mutation SNP G A p.Q216* yes
PEX16 11 45939291 45939291 Silent SNP C T p.Q24Q yes
PEX6 6 42934330 42934330 Missense_Mutation SNP G A p.A676V yes
PEX6 6 42936199 42936199 Missense_Mutation SNP G A p.A506V yes
PFAS 17 8167127 8167127 Frame_Shift_Del DEL G – p.W555fs yes
PFKP 10 3150924 3150924 Missense_Mutation SNP G A p.R301H yes
PGD 1 10479784 10479784 Missense_Mutation SNP C T p.S477L yes
PGLYRP2 19 15586816 15586816 Missense_Mutation SNP G A p.T222I yes
PGP 16 2264518 2264518 Silent SNP G T p.G87G yes
PGS1 17 76395585 76395585 Missense_Mutation SNP T C p.V223A yes
PGS1 17 76374809 76374809 Silent SNP G A p.L21L yes
PHB2 12 7076846 7076846 Missense_Mutation SNP G A p.A235V yes
PHC2 1 33837974 33837974 Silent SNP C T p.Q83Q yes
PHF12 17 27233390 27233390 Silent SNP C T p.E942E yes
PHF12 17 27239854 27239854 Nonsense_Mutation SNP G A p.Q579* yes
PHF19 9 123624217 123624217 Silent SNP C T p.L399L yes
PHF19 9 123624227 123624227 Missense_Mutation SNP G A p.S396L yes
PHF2 9 96438009 96438009 Missense_Mutation SNP G T p.G924C yes
PHF2 9 96422612 96422612 Frame_Shift_Del DEL A – p.K492fs yes
PHF3 6 64394226 64394226 Silent SNP C T p.S201S yes
PHF3 6 64421516 64421516 Silent SNP C T p.G1344G yes
PHKA2 0 18929061 18929061 Missense_Mutation SNP G A p.P719S yes
PHLDB2 3 111664180 111664180 Silent SNP C A p.P821P yes
PHLDB2 3 111664179 111664179 Missense_Mutation SNP C A p.P821H yes
PHLPP1 18 60645863 60645863 Silent SNP A G p.S1451S yes
PHRF1 11 608937 608937 Silent SNP C A p.R1161R yes
PHRF1 11 610338 610338 Silent SNP C T p.D1469D yes
PHYHIP 8 22079064 22079064 Silent SNP C A p.L265L yes
PHYHIP 8 22079101 22079101 Missense_Mutation SNP C A p.R253L yes
PI4KB 1 151265423 151265423 Nonsense_Mutation SNP G A p.Q786* yes
PIAS4 19 4028766 4028766 Missense_Mutation SNP C G p.R241G yes
PICK1 22 38469815 38469815 Silent SNP G A p.E273E yes
PIEZO1 16 88786673 88786673 Missense_Mutation SNP C T p.D1990N yes
PIEZO1 16 88782502 88782502 Silent SNP C G p.V2385V yes
PIF1 15 65107920 65107920 Frame_Shift_Del DEL A – p.F698fs yes
PIGQ 16 625863 625863 Silent SNP C A p.S238S yes
PIGV 1 27121124 27121124 Missense_Mutation SNP C T p.T200I yes
PIK3C2B 1 204415199 204415199 Silent SNP G A p.L855L yes
PIK3C2B 1 204413468 204413468 Missense_Mutation SNP C A p.Q921H yes
PIK3CA 3 178936092 178936092 Missense_Mutation SNP A G p.E545G no
PIK3CD 1 9780940 9780940 Silent SNP G A p.K554K yes
PIK3CD 1 9782353 9782353 Missense_Mutation SNP G T p.M762I yes
PIM3 22 50354879 50354879 Silent SNP C G p.L64L yes
PIP5KL1 9 130690372 130690372 Missense_Mutation SNP A G p.S136P yes
PITPNC1 17 65529063 65529063 Missense_Mutation SNP A G p.N65S yes
PITPNM1 11 67265073 67265073 Silent SNP G T p.G620G yes
PITPNM1 11 67267720 67267720 Frame_Shift_Del DEL G – p.P271fs yes
PITPNM2 12 123472172 123472172 Missense_Mutation SNP C T p.G1050D yes
PKD1 16 2143083 2143083 Silent SNP C T p.V3676V yes
PKD1 16 2156253 2156253 Silent SNP C T p.L2514L yes
PKD1 16 2162854 2162854 Silent SNP G T p.S1032S yes
PKD1 16 2147225 2147225 Missense_Mutation SNP G C p.Q3475E yes
PKD1 16 2156585 2156585 Missense_Mutation SNP G A p.R2435W yes
PKD1 16 2149899 2149899 Missense_Mutation SNP C T p.A3296T yes
PKD1 16 2141103 2141103 Missense_Mutation SNP G A p.R3929C yes
PKD1 16 2149745 2149745 Missense_Mutation SNP G A p.P3317L yes
PKD1 16 2152176 2152176 Silent SNP G A p.L3095L yes
PKD1 16 2164777 2164777 Silent SNP T C p.S749S yes
PKDREJ 22 46652740 46652740 Silent SNP G A p.I2160I yes
PKDREJ 22 46652812 46652812 Silent SNP G A p.F2136F yes
PKHD1 6 51732859 51732859 Missense_Mutation SNP T G p.N2512T yes
PKHD1L1 8 110520353 110520353 Missense_Mutation SNP A G p.Y3752C yes
PKN1 19 14578385 14578385 Silent SNP C A p.P580P yes
PKN3 9 131469302 131469302 Splice_Site SNP G T p.E217D yes
PKP1 1 201263172 201263172 Splice_Site SNP C T p.P102L yes
PKP4 2 159490803 159490803 Splice_Site DEL C – yes
PLA2G4E 15 42282406 42282406 Missense_Mutation SNP G A p.R500C yes
PLAG1 8 57079754 57079754 Frame_Shift_Del DEL T – p.K184fs no
PLAT 8 42046520 42046520 Missense_Mutation SNP C T p.R62K yes
PLCB2 15 40584269 40584269 Missense_Mutation SNP G A p.P841L yes
PLCD3 17 43195362 43195362 Splice_Site SNP G A p.T420M yes
PLCD4 2 219498432 219498432 Silent SNP C T p.Y518Y yes
PLCD4 2 219501037 219501037 Missense_Mutation SNP G A p.V702M yes
PLCH2 1 2411730 2411730 Missense_Mutation SNP G C p.Q208H yes
PLCH2 1 2433841 2433841 Frame_Shift_Del DEL C – p.S984fs yes
PLCZ1 12 18841025 18841025 Frame_Shift_Del DEL T – p.N312fs yes
PLEC 8 144994896 144994896 Silent SNP C T p.L3168L yes
PLEC 8 144996015 144996015 Silent SNP C T p.L2795L yes
PLEC 8 144998202 144998202 Silent SNP G A p.A2102A yes
PLEC 8 145003336 145003336 Silent SNP C G p.S1202S yes
PLEC 8 145004371 145004371 Silent SNP C A p.V988V yes
PLEC 8 145007090 145007090 Silent SNP C T p.Q673Q yes
PLEC 8 145009260 145009260 Silent SNP C T p.E385E yes
PLEC 8 144993983 144993983 Missense_Mutation SNP T C p.T3473A yes
PLEC 8 144997099 144997099 Missense_Mutation SNP T A p.Q2470L yes
PLEC 8 144999062 144999062 Missense_Mutation SNP C T p.A1816T yes
PLEC 8 144999979 144999979 Missense_Mutation SNP C T p.R1510Q yes
PLEC 8 145006105 145006105 Splice_Site SNP C T p.Q863Q yes
PLEC 8 145009277 145009277 Missense_Mutation SNP C A p.V380F yes
PLEC 8 145009420 145009420 Missense_Mutation SNP C T p.A359T yes
PLEC 8 144993733 144993733 Missense_Mutation SNP C T p.G3556D yes
PLEC 8 144994034 144994034 Missense_Mutation SNP C A p.A3456S yes
PLEC 8 144998707 144998707 Missense_Mutation SNP C A p.R1934L yes
PLEC 8 145000043 145000043 Missense_Mutation SNP C T p.E1489K yes
PLEC 8 144994035 144994035 Silent SNP C A p.L3455L yes
PLEC 8 144999186 144999186 Silent SNP C T p.K1774K yes
PLEC 8 145000047 145000047 Silent SNP C G p.L1487L yes
PLEKHA2 8 38814865 38814865 Silent SNP G A p.L266L yes
PLEKHA6 1 204228411 204228411 Frame_Shift_Del DEL C – p.V328fs yes
PLEKHA6 1 204237347 204237347 Missense_Mutation SNP G C p.L66V yes
PLEKHG2 19 39915037 39915037 Missense_Mutation SNP G T p.Q1088H yes
PLEKHG4B 5 163359 163359 Missense_Mutation SNP G A p.A702T yes
PLEKHG5 1 6529293 6529293 Silent SNP C T p.L742L yes
PLEKHH1 14 68043151 68043151 Missense_Mutation SNP A G p.S798G yes
PLEKHH3 17 40825216 40825216 Silent SNP C T p.L249L yes
PLEKHH3 17 40825491 40825491 Frame_Shift_Del DEL C – p.V192fs yes
PLEKHH3 17 40825673 40825673 Missense_Mutation SNP G A p.R160C yes
PLEKHM2 1 16011056 16011056 Start_Codon_SNP SNP G A p.M1I yes
PLEKHM2 1 16053885 16053885 Missense_Mutation SNP G A p.G440S yes
PLEKHM2 1 16058908 16058908 Missense_Mutation SNP C T p.R897C yes
PLIN1 15 90210878 90210878 Silent SNP C T p.T306T yes
PLIN3 19 4844712 4844712 Nonsense_Mutation SNP G A p.Q310* yes
PLIN3 19 4859915 4859915 Missense_Mutation SNP G C p.A63G yes
PLK3 1 45270010 45270010 Splice_Site SNP G A yes
PLK5 19 1528026 1528026 Missense_Mutation SNP G A p.A32T yes
PLLP 16 57290879 57290879 Nonsense_Mutation SNP C T p.W165* yes
PLTP 20 44531187 44531187 Silent SNP C T p.P333P yes
PLXDC1 17 37265159 37265159 Missense_Mutation SNP C T p.G156E yes
PLXNB2 22 50714323 50714323 Missense_Mutation SNP C T p.D1803N yes
PLXNB2 22 50718445 50718445 Nonsense_Mutation SNP G A p.Q1411* yes
PLXNB2 22 50719192 50719192 Missense_Mutation SNP C T p.S1325N yes
PLXNB2 22 50728010 50728010 Missense_Mutation SNP C G p.R335P yes
PLXNB2 22 50719031 50719031 Silent SNP C T p.L1354L yes
PLXNB2 22 50728312 50728312 Silent SNP C T p.Q234Q yes
PLXNB3 0 153040451 153040451 Silent SNP C T p.L1350L yes
PLXNC1 12 94659003 94659003 Splice_Site SNP T C yes
PLXND1 3 129291548 129291548 Missense_Mutation SNP G A p.A994V yes
PML 15 74290385 74290385 Missense_Mutation SNP G A p.C57Y no
PML 15 74290439 74290439 Missense_Mutation SNP C T p.T75M no
PMPCB 7 102950772 102950772 Missense_Mutation SNP G C p.S335T yes
PNISR 6 99856014 99856015 Frame_Shift_Ins INS – T p.K269fs yes
PNKP 19 50365304 50365304 Missense_Mutation SNP G T p.N395K yes
PNKP 19 50365310 50365310 Missense_Mutation SNP G C p.H393Q yes
PNLDC1 6 160234671 160234671 Silent SNP C A p.V315V yes
PNMAL2 19 46998606 46998606 Silent SNP C T p.L39L yes
PNPLA6 19 7619540 7619540 Silent SNP G A p.V817V yes
PNPLA7 9 140357944 140357944 Missense_Mutation SNP G A p.S1064F yes
POC1A 3 52183371 52183371 Missense_Mutation SNP C T p.A104T yes
POC1B 12 89918963 89918963 Missense_Mutation SNP G T p.R12S yes
PODNL1 19 14044170 14044170 Missense_Mutation SNP C T p.R296H yes
PODXL2 3 127387341 127387341 Frame_Shift_Del DEL C – p.P422fs yes
POGK 1 166819191 166819191 Nonsense_Mutation SNP G T p.G459* yes
POLA1 0 24717586 24717587 Frame_Shift_Ins INS – A p.E24fs yes
POLDIP3 22 43010848 43010848 Silent SNP G A p.L6L yes
POLE 12 133234521 133234521 Missense_Mutation SNP G A p.T1104M no
POLE3 9 116171255 116171255 Silent SNP G T p.R94R yes
POLG 15 89876428 89876428 Silent SNP G A p.P186P no
POLM 7 44113611 44113611 Missense_Mutation SNP T C p.Y362C yes
POLR2A 17 7400164 7400164 Missense_Mutation SNP G C p.E207Q yes
POLR2A 17 7406729 7406729 Missense_Mutation SNP G A p.R985Q yes
POLR2E 19 1089515 1089515 Silent SNP G A p.G201G yes
POLR2E 19 1089504 1089504 Missense_Mutation SNP G T p.T205N yes
POLR2J 7 102114893 102114893 Missense_Mutation SNP G A p.T78M yes
POLR3D 8 22105429 22105429 Missense_Mutation SNP G A p.R90Q yes
POLRMT 19 629585 629585 Silent SNP G A p.L259L yes
POLRMT 19 629662 629662 Silent SNP G A p.L234L yes
POLRMT 19 618504 618504 Missense_Mutation SNP C T p.A1136T yes
POLRMT 19 618516 618516 Missense_Mutation SNP T C p.M1132V yes
POM121 7 72412710 72412711 Frame_Shift_Ins INS – A p.M727fs yes
POM121C 7 75051381 75051381 Silent SNP G A p.A960A yes
POM121C 7 75053489 75053489 Silent SNP G A p.V539V yes
PP2D1 3 20042580 20042580 Silent SNP G A p.S344S yes
PPAN 19 10220673 10220673 Silent SNP G A p.Q225Q yes
PPAPDC1A 10 122348853 122348853 Missense_Mutation SNP T C p.Y219H yes
PPFIA1 11 70118435 70118435 Missense_Mutation SNP A C p.T53P yes
PPFIA3 19 49633719 49633719 Missense_Mutation SNP G A p.E248K yes
PPFIBP2 11 7652196 7652196 Silent SNP G A p.P335P yes
PPIP5K2 5 102494215 102494215 Missense_Mutation SNP G A p.D559N yes
PPM1J 1 113255548 113255548 Missense_Mutation SNP C T p.D183N yes
PPP1R12A 12 80201042 80201042 Frame_Shift_Del DEL T – p.N540fs yes
PPP1R14B 11 64014050 64014050 Silent SNP G A p.S32S yes
PPP1R16A 8 145727157 145727157 Silent SNP G A p.L486L yes
PPP1R16B 20 37464750 37464750 Missense_Mutation SNP G A p.R61H yes
PPP1R18 6 30646973 30646973 Missense_Mutation SNP G A p.T602I yes
PPP1R37 19 45648381 45648381 Nonsense_Mutation SNP G T p.E387* yes
PPP1R3A 7 113522126 113522126 Missense_Mutation SNP C T p.D312N yes
PPP1R3D 20 58514691 58514691 Missense_Mutation SNP T C p.Q99R yes
PPP2R3A 3 135825098 135825098 Missense_Mutation SNP G A p.R1088Q yes
PPP6R2 22 50857396 50857396 Missense_Mutation SNP C G p.T240R yes
PPP6R2 22 50874879 50874879 Silent SNP C T p.L534L yes
PPRC1 10 103906948 103906948 Missense_Mutation SNP G C p.R1400P yes
PPRC1 10 103907125 103907125 Frame_Shift_Del DEL C – p.S1459fs yes
PRAM1 19 8563851 8563851 Missense_Mutation SNP A G p.F281L yes
PRAME 22 22891024 22891024 Missense_Mutation SNP C T p.C332Y yes
PRB1 12 11506839 11506839 Missense_Mutation SNP G T p.N66K yes
PRCC 1 156761558 156761558 Missense_Mutation SNP G A p.D385N no
PRDM11 11 45203363 45203363 Missense_Mutation SNP G A p.V50M yes
PRDM8 4 81124561 81124561 Frame_Shift_Del DEL A – p.K650fs yes
PRDM8 4 81124005 81124005 Silent SNP G T p.V463V yes
PRELID1 5 176731658 176731658 Missense_Mutation SNP G A p.R42Q yes
PRICKLE4 6 41754679 41754679 Nonsense_Mutation SNP C T p.Q283* yes
PRIMPOL 4 185593327 185593327 Splice_Site SNP G A p.G186D yes
PRKAB1 12 120106124 120106124 Frame_Shift_Del DEL G – p.S25fs yes
PRKAG3 2 219694778 219694778 Missense_Mutation SNP G A p.R186C yes
PRKCA 17 64298974 64298974 Missense_Mutation SNP C A p.A2D yes
PRKCD 3 53215273 53215273 Silent SNP G A p.L122L yes
PRKCSH 19 11558588 11558588 Silent SNP G A p.T363T yes
PROB1 5 138729251 138729251 Missense_Mutation SNP G A p.P507L yes
PROC 2 128186211 128186211 Missense_Mutation SNP G A p.V359I yes
PRODH2 19 36303552 36303552 Silent SNP G T p.L128L yes
PROSER2 10 11894120 11894120 Missense_Mutation SNP C T p.S15L yes
PRPF40A 2 153515800 153515800 Missense_Mutation SNP C T p.R798H yes
PRPF40B 12 50036407 50036407 Silent SNP C G p.T667T no
PRPF40B 12 50029641 50029641 Missense_Mutation SNP C T p.L409F no
PRPF8 17 1555020 1555020 Silent SNP G A p.C2144C yes
PRPF8 17 1564699 1564699 Splice_Site SNP G A p.R1402C yes
PRR12 19 50099836 50099836 Missense_Mutation SNP C A p.H748Q yes
PRR12 19 50128739 50128739 Missense_Mutation SNP G A p.A1996T yes
PRR12 19 50119400 50119400 Silent SNP C A p.G1807G yes
PRR12 19 50101180 50101180 Silent SNP C A p.G1196G yes
PRR22 19 5783841 5783841 Frame_Shift_Del DEL C – p.G139fs yes
PRR5L 11 36422820 36422820 Missense_Mutation SNP G A p.S50N yes
PRRC2A 6 31599985 31599985 Missense_Mutation SNP C A p.P1179T yes
PRRC2A 6 31599986 31599986 Missense_Mutation SNP C A p.P1179H yes
PRRC2A 6 31599995 31599995 Missense_Mutation SNP G A p.C1182Y yes
PRRC2A 6 31600094 31600094 Missense_Mutation SNP C A p.P1215Q yes
PRRC2A 6 31600345 31600345 Missense_Mutation SNP C A p.P1299T yes
PRRC2B 9 134312079 134312079 Silent SNP G A p.L122L yes
PRRG4 11 32852121 32852121 Silent SNP C T p.L16L yes
PRRT3 3 9989561 9989561 Silent SNP G A p.P432P yes
PRRT3 3 9989559 9989559 Missense_Mutation SNP G A p.P433L yes
PRTN3 19 847954 847954 Silent SNP C A p.A252A yes
PRTN3 19 841040 841040 Missense_Mutation SNP C A p.A11E yes
PRUNE2 9 79319738 79319738 Silent SNP G A p.D2484D yes
PRX 19 40901558 40901558 Missense_Mutation SNP C A p.V901F yes
PSAP 10 73587872 73587872 Missense_Mutation SNP C T p.D207N yes
PSCA 8 143763432 143763432 Missense_Mutation SNP C T p.T76M yes
PSD 10 104173682 104173682 Missense_Mutation SNP G A p.P466L yes
PSD 10 104176574 104176574 Frame_Shift_Del DEL G – p.P74fs yes
PSMC2 7 103004659 103004659 Missense_Mutation SNP G A p.G221S yes
PSMC3IP 17 40729679 40729679 Missense_Mutation SNP G A p.A9V yes
PSMD13 11 238997 238997 Splice_Site SNP G A yes
PSMD2 3 184025294 184025294 Silent SNP C A p.A728A yes
PSMD7 16 74330852 74330852 Silent SNP C T p.L14L yes
PSMD7 16 74330875 74330875 Missense_Mutation SNP T A p.D21E yes
PSMD9 12 122332729 122332729 Missense_Mutation SNP G A p.A75T yes
PTBP1 19 804208 804208 Splice_Site SNP G A p.Q96Q yes
PTCD2 5 71631644 71631644 Missense_Mutation SNP A C p.M191L yes
PTCH2 1 45293990 45293990 Missense_Mutation SNP C T p.D563N yes
PTCH2 1 45295169 45295169 Nonsense_Mutation SNP G A p.Q374* yes
PTCH2 1 45296558 45296558 Missense_Mutation SNP G A p.H259Y yes
PTGER1 19 14584842 14584842 Silent SNP A G p.R97R yes
PTK6 20 62161031 62161031 Missense_Mutation SNP C T p.R405H no
PTOV1 19 50358244 50358244 Silent SNP G A p.L156L yes
PTP4A2 1 32384654 32384654 Missense_Mutation SNP C T p.A5T yes
PTPN13 4 87653842 87653842 Missense_Mutation SNP G A p.C594Y no
PTPRA 20 3003411 3003411 Missense_Mutation SNP G A p.D460N yes
PTPRCAP 11 67203671 67203671 Missense_Mutation SNP G C p.L52V yes
PTPRD 9 8486148 8486148 Nonsense_Mutation SNP G T p.S890* no
PTPRE 10 129875892 129875892 Silent SNP C T p.R579R yes
PTPRF 1 44086136 44086136 Missense_Mutation SNP C A p.H1750Q yes
PTPRG 3 62189456 62189456 Missense_Mutation SNP G A p.G663S yes
PTPRH 19 55693208 55693208 Missense_Mutation SNP C A p.A1088S yes
PTPRH 19 55693242 55693242 Silent SNP G A p.I1076I yes
PTPRJ 11 48145248 48145248 Missense_Mutation SNP G A p.A234T yes
PTPRJ 11 48188805 48188805 Missense_Mutation SNP A T p.Q1302L yes
PTPRO 12 15654726 15654726 Silent SNP C T p.N278N yes
PTRF 17 40574819 40574819 Silent SNP C T p.A99A yes
PTTG1IP 21 46276139 46276139 Missense_Mutation SNP G A p.R140W yes
PVRIG 7 99818745 99818745 Silent SNP C T p.S284S yes
PVRL1 11 119509506 119509506 Missense_Mutation SNP G T p.P388T yes
PWP2 21 45528914 45528914 Missense_Mutation SNP C T p.T23I yes
PWWP2A 5 159519418 159519418 Missense_Mutation SNP G A p.R747W no
PXDNL 8 52387545 52387545 Missense_Mutation SNP C A p.E227D yes
QDPR 4 17488861 17488861 Splice_Site SNP T G yes
QPRT 16 29708617 29708617 Missense_Mutation SNP G A p.C260Y yes
QRICH2 17 74287416 74287416 Missense_Mutation SNP G A p.P965L yes
QRICH2 17 74289982 74289982 Missense_Mutation SNP C T p.A110T yes
QSOX2 9 139100962 139100962 Missense_Mutation SNP G A p.T570M yes
RAB11FIP1 8 37734705 37734705 Missense_Mutation SNP C A p.V246L yes
RAB11FIP5 2 73302662 73302662 Missense_Mutation SNP C G p.G650A yes
RAB36 22 23487694 23487694 Missense_Mutation SNP G A p.G48S yes
RABAC1 19 42463058 42463058 Silent SNP C T p.E33E yes
RABEPK 9 127996008 127996008 Frame_Shift_Del DEL C – p.P291fs yes
RABL2B 22 51214228 51214228 Missense_Mutation SNP T C p.Y90C yes
RAD9A 11 67164755 67164755 Silent SNP C A p.S326S yes
RAI1 17 17697172 17697172 Missense_Mutation SNP C T p.H304Y yes
RALGDS 9 135977377 135977377 Missense_Mutation SNP T C p.E720G no
RALGDS 9 135977898 135977898 Silent SNP G A p.T658T no
RALGDS 9 135978177 135978177 Silent SNP G A p.S634S no
RALGDS 9 135974094 135974094 Silent SNP G A p.N875N no
RALGDS 9 135996403 135996403 Silent SNP G A p.L47L no
RANBP10 16 67840278 67840278 Silent SNP C T p.P54P yes
RANBP3 19 5932546 5932546 Missense_Mutation SNP C T p.S161N yes
RAPGEF1 9 134503970 134503970 Missense_Mutation SNP C T p.S311N yes
RAPGEF4 2 173853472 173853472 Missense_Mutation SNP G A p.V427M yes
RAPGEF4 2 173901386 173901386 Missense_Mutation SNP C T p.T940M yes
RAPH1 2 204304681 204304681 Missense_Mutation SNP G C p.P1078A yes
RAPSN 11 47460467 47460467 Silent SNP G A p.L328L yes
RASA1 5 86686618 86686618 Splice_Site SNP A G p.H1021R yes
RASA3 13 114780709 114780709 Missense_Mutation SNP C G p.E461Q yes
RASAL3 19 15568389 15568389 Missense_Mutation SNP C T p.R382H yes
RASGRF1 15 79307731 79307731 Silent SNP G A p.C588C yes
RASGRP2 11 64510318 64510318 Silent SNP C T p.L7L yes
RASGRP2 11 64504282 64504282 Missense_Mutation SNP C T p.M346I yes
RASGRP2 11 64504337 64504337 Missense_Mutation SNP C T p.R328Q yes
RASGRP2 11 64507617 64507617 Missense_Mutation SNP C A p.K130N yes
RASGRP4 19 38911568 38911568 Silent SNP C A p.L119L yes
RASGRP4 19 38903894 38903894 Missense_Mutation SNP G A p.P452L yes
RASIP1 19 49243442 49243442 Missense_Mutation SNP G A p.A33V yes
RAVER1 19 10431359 10431359 Missense_Mutation SNP G C p.S598C yes
RB1CC1 8 53568773 53568773 Missense_Mutation SNP C T p.E1206K yes
RBBP6 16 24573302 24573302 Missense_Mutation SNP T C p.M370T yes
RBBP8 18 20529635 20529635 Silent SNP G A p.Q69Q yes
RBBP8 18 20529585 20529585 Missense_Mutation SNP G A p.A53T yes
RBBP8 18 20573793 20573793 Missense_Mutation SNP C T p.S641F yes
RBCK1 20 402794 402794 Missense_Mutation SNP G A p.R314H yes
RBFOX1 16 7645594 7645594 Missense_Mutation SNP G T p.R171M yes
RBKS 2 28113185 28113185 Missense_Mutation SNP G C p.Q10E yes
RBM10 0 47039409 47039409 Silent SNP C T p.G344G no
RBM12B 8 94748160 94748160 Missense_Mutation SNP C T p.R160Q yes
RBM15 1 110883402 110883402 Missense_Mutation SNP G A p.V459M no
RBM15B 3 51431073 51431073 Missense_Mutation SNP G A p.S748N yes
RBM20 10 112540908 112540908 Missense_Mutation SNP G A p.G181R yes
RBM22 5 150072459 150072459 Frame_Shift_Del DEL G – p.P377fs yes
RBM27 5 145647320 145647320 Frame_Shift_Del DEL A – p.K816fs yes
RBMX 0 135958688 135958688 Missense_Mutation SNP C A p.R172L yes
RBMXL3 0 114425090 114425090 Silent SNP G A p.S362S yes
RC3H2 9 125627667 125627667 Missense_Mutation SNP T C p.Q532R yes
RCBTB2 13 49075900 49075900 Missense_Mutation SNP G A p.H408Y yes
RCCD1 15 91503696 91503696 Missense_Mutation SNP G C p.S306T yes
RCCD1 15 91503699 91503699 Missense_Mutation SNP G T p.C307F yes
RCN3 19 50040343 50040343 Missense_Mutation SNP C T p.R167W yes
RECQL4 8 145739599 145739599 Missense_Mutation SNP G A p.R618W no
RECQL5 17 73624448 73624448 Silent SNP G A p.G885G yes
RECQL5 17 73658642 73658642 Missense_Mutation SNP G C p.Q230E yes
REG1A 2 79350298 79350298 Missense_Mutation SNP C A p.P153H yes
RELT 11 73101665 73101665 Missense_Mutation SNP G A p.D39N yes
RELT 11 73103505 73103505 Missense_Mutation SNP G A p.G206E yes
RENBP 0 153208435 153208435 Missense_Mutation SNP C T p.E187K yes
REPIN1 7 150069779 150069779 Silent SNP C T p.G483G yes
RETSAT 2 85577162 85577162 Splice_Site DEL C – yes
REV3L 6 111696321 111696321 Frame_Shift_Del DEL T – p.K1079fs yes
REXO1 19 1828300 1828300 Missense_Mutation SNP G T p.A163D yes
REXO4 9 136272944 136272944 Missense_Mutation SNP G A p.A379V yes
RFFL 17 33348707 33348707 Nonsense_Mutation SNP G A p.R92* yes
RGL1 1 183885757 183885757 Nonsense_Mutation SNP C A p.Y642* yes
RGL1 1 183885761 183885761 Missense_Mutation SNP C A p.Q644K yes
RGL3 19 11526761 11526762 Frame_Shift_Ins INS – G p.P163fs yes
RGS2 1 192778216 192778216 Missense_Mutation SNP G A p.M5I yes
RGS3 9 116346346 116346346 Missense_Mutation SNP C T p.A885V yes
RGS9BP 19 33167194 33167194 Silent SNP C T p.L9L yes
RHBDF1 16 111846 111846 Silent SNP C T p.K386K yes
RHBDF1 16 111932 111932 Missense_Mutation SNP C T p.V358M yes
RHBDF1 16 112687 112687 Missense_Mutation SNP T C p.I268V yes
RHBDF2 17 74475326 74475326 Silent SNP G A p.D131D yes
RHBDF2 17 74470562 74470562 Nonsense_Mutation SNP G A p.Q482* yes
RHBDL1 16 726294 726294 Missense_Mutation SNP C T p.R65W yes
RHBG 1 156354341 156354341 Silent SNP C T p.L420L yes
RHOBTB2 8 22872205 22872205 Nonsense_Mutation SNP C T p.Q592* yes
RHOC 1 113245695 113245695 Missense_Mutation SNP C T p.R68Q yes
RHOT2 16 723569 723569 Missense_Mutation SNP G A p.S607N yes
RHPN1 8 144462238 144462238 Missense_Mutation SNP C T p.T370I yes
RHPN1 8 144462239 144462239 Silent SNP C A p.T370T yes
RHPN2 19 33517433 33517433 Silent SNP C T p.S97S yes
RICTOR 5 38950625 38950626 Frame_Shift_Ins INS – T p.H1109fs yes
RIF1 2 152320970 152320970 Silent SNP T C p.L1646L yes
RIMBP3 22 20459518 20459518 Missense_Mutation SNP C A p.R595L yes
RIN1 11 66102170 66102170 Missense_Mutation SNP G A p.A367V yes
RIN1 11 66102174 66102174 Missense_Mutation SNP G C p.R366G yes
RINL 19 39361312 39361312 Missense_Mutation SNP G A p.H308Y yes
RLTPR 16 67681988 67681988 Silent SNP C T p.L369L yes
RLTPR 16 67680114 67680114 Missense_Mutation SNP G A p.R92H yes
RMDN3 15 41046942 41046942 Silent SNP G A p.L14L yes
RNASE11 14 21052587 21052587 Missense_Mutation SNP G A p.A16V yes
RNF10 12 121001640 121001640 Missense_Mutation SNP A G p.H520R yes
RNF130 5 179390546 179390546 Missense_Mutation SNP G A p.A390V yes
RNF168 3 196215547 196215547 Missense_Mutation SNP G T p.D103E yes
RNF19B 1 33412072 33412072 Silent SNP C T p.G360G yes
RNF19B 1 33429967 33429967 Missense_Mutation SNP G A p.A107V yes
RNF207 1 6272366 6272366 Missense_Mutation SNP C T p.L458F yes
RNF213 17 78313749 78313749 Missense_Mutation SNP A C p.E1861A no
RNF25 2 219529183 219529185 In_Frame_Del DEL CTG – p.A292del yes
RNF32 7 156437272 156437272 Missense_Mutation SNP G A p.R32Q yes
RNF44 5 175957732 175957732 Missense_Mutation SNP G A p.L218F yes
RNF5 6 32146353 32146353 Missense_Mutation SNP G A p.G22D yes
RNF7 3 141457300 141457300 Silent SNP C T p.A39A yes
RNMT 18 13746253 13746253 Frame_Shift_Del DEL A – p.K393fs yes
ROM1 11 62381111 62381111 Missense_Mutation SNP G A p.G120R yes
ROR2 9 94493250 94493250 Frame_Shift_Del DEL G – p.P375fs yes
RP11-1055B8.7 17 79410367 79410367 Silent SNP G A p.Q664Q yes
RP11-1055B8.7 17 79429030 79429030 Silent SNP G A p.L2447L yes
RP11-1055B8.7 17 79427937 79427937 Missense_Mutation SNP C T p.A2083V yes
RP11-1055B8.7 17 79412082 79412082 Missense_Mutation SNP G C p.G905R yes
RP1L1 8 10465577 10465577 Missense_Mutation SNP C T p.E2011K yes
RP9 7 33140157 33140157 Missense_Mutation SNP G A p.P57S yes
RPAP1 15 41827045 41827045 Silent SNP G A p.V210V yes
RPAP1 15 41810209 41810209 Missense_Mutation SNP T G p.S1323R yes
RPAP1 15 41815072 41815072 Missense_Mutation SNP C T p.G878D yes
RPL10 0 153629069 153629069 Missense_Mutation SNP C G p.F173L no
RPL18 19 49119190 49119190 Silent SNP G A p.G145G yes
RPL18 19 49119196 49119196 Silent SNP G A p.R143R yes
RPL18A 19 17973997 17973997 Silent SNP C T p.F152F yes
RPL19 17 37357506 37357506 Missense_Mutation SNP C G p.R16G yes
RPL22 1 6257785 6257785 Frame_Shift_Del DEL T – p.K16fs no
RPL4 15 66795794 66795794 Missense_Mutation SNP G A p.A26V yes
RPLP0 12 120635267 120635268 Splice_Site INS – G yes
RPN1 3 128341010 128341010 Silent SNP G A p.D546D no
RPS11 19 50001264 50001264 Missense_Mutation SNP G A p.R105H yes
RPS21 20 60963521 60963521 Silent SNP G A p.*84* yes
RPS6KA1 1 26883185 26883185 Silent SNP C A p.V319V yes
RPS6KB2 11 67201486 67201486 Missense_Mutation SNP C A p.S309R yes
RPS6KB2 11 67201923 67201923 Missense_Mutation SNP G T p.A375S yes
RPS8 1 45241715 45241715 Missense_Mutation SNP G A p.R5Q yes
RPS8 1 45243720 45243720 Missense_Mutation SNP C A p.Q146K yes
RPTOR 17 78831617 78831617 Missense_Mutation SNP G A p.V476M yes
RRAD 16 66958757 66958757 Missense_Mutation SNP C T p.R109H yes
RRAGA 9 19049705 19049705 Silent SNP C T p.S16S yes
RREB1 6 7230922 7230922 Nonsense_Mutation SNP G T p.E864* yes
RREB1 6 7247229 7247229 Missense_Mutation SNP G A p.E1461K yes
RREB1 6 7232130 7232131 Frame_Shift_Del DEL CA – p.T1267fs yes
RRNAD1 1 156704056 156704056 Silent SNP C T p.L298L yes
RRP1 21 45220444 45220444 Missense_Mutation SNP G A p.R313H yes
RRP1 21 45223608 45223608 Missense_Mutation SNP G A p.A447T yes
RRP7A 22 42910768 42910768 Missense_Mutation SNP C T p.A160T yes
RRP8 11 6622173 6622173 Missense_Mutation SNP C T p.V344M yes
RSBN1L 7 77326306 77326306 Missense_Mutation SNP G A p.G174S yes
RSF1 11 77378441 77378441 Missense_Mutation SNP C T p.E1283K yes
RSPH6A 19 46317918 46317918 Missense_Mutation SNP G A p.L173F yes
RTF1 15 41758420 41758420 Missense_Mutation SNP G A p.A287T yes
RTKN 2 74657454 74657455 Frame_Shift_Ins INS – C p.E107fs yes
RTN2 19 45996513 45996513 Frame_Shift_Del DEL G – p.P313fs yes
RTN4 2 55209691 55209691 Missense_Mutation SNP C T p.R1107K yes
RUFY2 10 70123741 70123741 Splice_Site DEL T – p.K485fs yes
RUFY4 2 218935540 218935540 Silent SNP C T p.A37A yes
RUNDC1 17 41132964 41132964 Missense_Mutation SNP G T p.R124L yes
RUNX1T1 8 92972612 92972612 Missense_Mutation SNP T C p.Q558R no
RUSC2 9 35548127 35548127 Missense_Mutation SNP C A p.P537T yes
RUVBL1 3 127816308 127816308 Missense_Mutation SNP T C p.N284S yes
RYR1 19 38966015 38966015 Silent SNP G A p.T1406T yes
RYR1 19 38937384 38937384 Nonsense_Mutation SNP G A p.W259* yes
RYR1 19 38956768 38956768 Missense_Mutation SNP G T p.D970Y yes
RYR1 19 38964203 38964203 Missense_Mutation SNP G A p.A1318T yes
RYR1 19 39008212 39008212 Frame_Shift_Del DEL C – p.A3300fs yes
RYR2 1 237540722 237540722 Missense_Mutation SNP C T p.S188F yes
RYR2 1 237632397 237632397 Missense_Mutation SNP C A p.L540I yes
S1PR2 19 10334906 10334906 Missense_Mutation SNP G T p.P226T yes
SAAL1 11 18127530 18127531 In_Frame_Ins INS – CCTCCT p.19_20insEE yes
SACS 13 23914686 23914687 Frame_Shift_Ins INS – T p.I1110fs yes
SAGE1 0 134994987 134994987 Silent SNP C T p.L882L yes
SALL3 18 76753322 76753322 Missense_Mutation SNP G A p.G444D yes
SALL4 20 50400817 50400817 Missense_Mutation SNP A G p.I1050T no
SAMD5 6 147830243 147830243 Missense_Mutation SNP G A p.R60H yes
SAPCD1 6 31730929 31730929 Missense_Mutation SNP A G p.Q33R yes
SARDH 9 136531944 136531944 Silent SNP C A p.V848V yes
SASH1 6 148865778 148865778 Frame_Shift_Del DEL C – p.P1059fs yes
SBF1 22 50886764 50886764 Missense_Mutation SNP C G p.S1728T yes
SBF1 22 50906217 50906217 Nonsense_Mutation SNP G A p.Q93* yes
SBNO2 19 1113626 1113626 Silent SNP G A p.L719L yes
SBNO2 19 1154250 1154250 Missense_Mutation SNP T A p.D9V yes
SBNO2 19 1108890 1108890 Silent SNP G A p.C1168C yes
SBSN 19 36017628 36017628 Missense_Mutation SNP G A p.A519V yes
SCAF4 21 33073336 33073336 Frame_Shift_Del DEL G – p.P251fs yes
SCAP 3 47456399 47456399 Missense_Mutation SNP G T p.P1075H yes
SCAPER 15 76958035 76958036 Frame_Shift_Ins INS – T p.N868fs yes
SCARA5 8 27779159 27779159 Missense_Mutation SNP G A p.A282V yes
SCARF1 17 1546920 1546920 Missense_Mutation SNP G T p.Q203K yes
SCFD1 14 31142480 31142480 Missense_Mutation SNP C T p.A338V yes
SCN2A 2 166234108 166234108 Splice_Site SNP C T p.A1419V yes
SCN2B 11 118037667 118037667 Missense_Mutation SNP C T p.D195N yes
SCN4A 17 62049712 62049712 Splice_Site SNP G A p.A131V yes
SCN4A 17 62022036 62022037 Frame_Shift_Ins INS – T p.K1303fs yes
SCO2 22 50962808 50962808 Nonsense_Mutation SNP C T p.W11* yes
SCRIB 8 144874466 144874466 Missense_Mutation SNP C T p.A1480T yes
SCRIB 8 144894552 144894552 Nonsense_Mutation SNP G A p.Q264* yes
SCRIB 8 144885726 144885726 Frame_Shift_Del DEL C – p.A1145fs yes
SCRT2 20 644375 644375 Missense_Mutation SNP C A p.E288D yes
SCRT2 20 644676 644676 Missense_Mutation SNP C G p.C188S yes
SCUBE1 22 43614440 43614440 Missense_Mutation SNP C G p.R571P yes
SDAD1 4 76891521 76891521 Frame_Shift_Del DEL T – p.K278fs yes
SDAD1 4 76896993 76896993 Missense_Mutation SNP A G p.L161S yes
SEC14L4 22 30899674 30899674 Silent SNP G A p.R40R yes
SEC14L5 16 5041924 5041924 Missense_Mutation SNP G A p.R187H yes
SEC16A 9 139342782 139342782 Missense_Mutation SNP A G p.S84P yes
SEC16B 1 177906564 177906564 Missense_Mutation SNP T A p.E763V yes
SEC24D 4 119659469 119659469 Missense_Mutation SNP G A p.H815Y yes
SEC31A 4 83785565 83785565 Frame_Shift_Del DEL T – p.I462fs yes
SEC61A2 10 12197865 12197865 Missense_Mutation SNP C A p.A184D yes
SEC63 6 108214755 108214755 Frame_Shift_Del DEL T – p.K535fs yes
SECISBP2 9 91964736 91964736 Missense_Mutation SNP A G p.D595G yes
SECISBP2 9 91933510 91933510 Missense_Mutation SNP C T p.R7W yes
SECISBP2L 15 49304018 49304018 Missense_Mutation SNP C T p.V592M yes
SELE 1 169698515 169698515 Splice_Site SNP G A p.A301V yes
SELP 1 169586487 169586487 Missense_Mutation SNP C T p.S87N yes
SEMA3F 3 50222162 50222162 Silent SNP A G p.T457T yes
SEMA4A 1 156132747 156132747 Silent SNP G T p.G332G yes
SEMA6B 19 4552597 4552597 Missense_Mutation SNP G T p.R276S yes
SEMA6C 1 151105666 151105666 Missense_Mutation SNP G A p.A696V yes
SEMA6C 1 151108584 151108584 Missense_Mutation SNP G T p.L388I yes
SEMA6D 15 48052011 48052011 Missense_Mutation SNP C T p.L6F yes
SEMA7A 15 74706996 74706996 Missense_Mutation SNP G A p.P396S yes
SEPP1 5 42808359 42808359 Missense_Mutation SNP C A p.A33S yes
SEPT14 7 55914256 55914256 Silent SNP C T p.V43V yes
SEPT5 22 19708293 19708293 Silent SNP C A p.I206I no
SEPT5 22 19708294 19708294 Silent SNP C A p.R207R no
SEPT9 17 75398487 75398487 Silent SNP G A p.K141K no
SERPINA9 14 94933618 94933618 Nonsense_Mutation SNP C A p.E244* yes
SERPINA9 14 94936030 94936030 Missense_Mutation SNP C T p.D50N yes
SERPINB5 18 61151732 61151732 Missense_Mutation SNP C T p.P24L yes
SERPINB5 18 61156611 61156611 Missense_Mutation SNP C T p.A113V yes
SERPINE2 2 224862982 224862982 Missense_Mutation SNP C T p.A113T yes
SERPINE3 13 51918541 51918541 Missense_Mutation SNP G A p.S137N yes
SERPINE3 13 51921160 51921160 Splice_Site SNP G A yes
SESTD1 2 179981421 179981421 Missense_Mutation SNP G A p.H541Y yes
SETD1A 16 30982918 30982918 Missense_Mutation SNP C T p.P1079L yes
SETD1A 16 30990543 30990543 Missense_Mutation SNP C T p.R1146C yes
SETD1B 12 122265857 122265857 Missense_Mutation SNP G A p.E1870K no
SETD2 3 47162434 47162434 Missense_Mutation SNP C T p.G1231E no
SETD4 21 37425901 37425901 Missense_Mutation SNP T C p.M63V yes
SETD7 4 140432892 140432892 Frame_Shift_Del DEL G – p.P342fs yes
SETX 9 135204400 135204400 Missense_Mutation SNP A G p.V862A yes
SEZ6L 22 26707925 26707925 Silent SNP A C p.R625R yes
SEZ6L2 16 29897034 29897034 Frame_Shift_Del DEL G – p.P415fs yes
SFI1 22 32009827 32009827 Silent SNP C A p.P994P yes
SFRP4 7 37953986 37953986 Missense_Mutation SNP C T p.R172H no
SGMS1 10 52103405 52103405 Missense_Mutation SNP T C p.H157R yes
SGSH 17 78184626 78184626 Silent SNP G A p.S378S yes
SGSM3 22 40801788 40801788 Missense_Mutation SNP C T p.R252C yes
SH2B1 16 28884967 28884967 Frame_Shift_Del DEL C – p.V699fs yes
SH2B3 12 111856140 111856140 Missense_Mutation SNP C T p.S64L no
SH2B3 12 111856286 111856286 Missense_Mutation SNP C T p.P113S no
SH2D3C 9 130504215 130504215 Missense_Mutation SNP A G p.L647P yes
SH3BP1 22 38039705 38039705 Silent SNP G A p.P176P yes
SH3D21 1 36786203 36786203 Frame_Shift_Del DEL C – p.P532fs yes
SH3D21 1 36784757 36784757 Missense_Mutation SNP C G p.S169R yes
SH3GLB2 9 131771034 131771034 Missense_Mutation SNP C T p.D373N yes
SH3PXD2A 10 105371354 105371354 Missense_Mutation SNP C T p.R431H yes
SH3PXD2A 10 105363228 105363228 Frame_Shift_Del DEL C – p.E583fs yes
SH3TC2 5 148406934 148406934 Silent SNP C A p.G787G yes
SHANK3 22 51117563 51117563 Silent SNP C T p.D239D yes
SHARPIN 8 145154304 145154304 Silent SNP G C p.A266A yes
SHARPIN 8 145154455 145154455 Silent SNP C T p.L242L yes
SHARPIN 8 145154606 145154606 Splice_Site SNP C T p.R220K yes
SIDT2 11 117066575 117066575 Missense_Mutation SNP G A p.D794N yes
SIGLEC10 19 51914451 51914451 Missense_Mutation SNP G C p.H666D yes
SIGLEC6 19 52034461 52034461 Nonsense_Mutation SNP C T p.W127* yes
SIK3 11 116719858 116719858 Missense_Mutation SNP A G p.I1160T yes
SIK3 11 116730002 116730002 Missense_Mutation SNP G A p.A809V yes
SIN3B 19 16980352 16980352 Silent SNP C T p.L630L yes
SIPA1L3 19 38573258 38573258 Missense_Mutation SNP C A p.D351E yes
SIPA1L3 19 38572991 38572991 Missense_Mutation SNP C A p.H262Q yes
SIRT5 6 13592037 13592037 Missense_Mutation SNP G A p.G129D yes
SIX6 14 60976482 60976482 Silent SNP G A p.P122P yes
SKIV2L 6 31937056 31937056 Splice_Site SNP G A yes
SKIV2L 6 31937055 31937055 Splice_Site SNP A C yes
SLC11A1 2 219256173 219256173 Silent SNP G A p.Q373Q yes
SLC12A1 15 48524965 48524965 Silent SNP A G p.A339A yes
SLC12A7 5 1063983 1063983 Silent SNP G A p.S905S yes
SLC12A8 3 124896782 124896782 Nonsense_Mutation SNP C A p.E143* yes
SLC16A3 17 80194614 80194614 Missense_Mutation SNP G A p.C78Y yes
SLC16A4 1 110919616 110919616 Missense_Mutation SNP C T p.A400T yes
SLC18A1 8 20030609 20030609 Missense_Mutation SNP T C p.D221G yes
SLC1A1 9 4576596 4576596 Silent SNP C T p.R342R yes
SLC20A2 8 42329754 42329754 Missense_Mutation SNP G A p.S52L yes
SLC22A1 6 160553386 160553386 Missense_Mutation SNP G A p.S213N yes
SLC22A16 6 110763710 110763711 Frame_Shift_Ins INS – T p.I307fs yes
SLC23A1 5 138715986 138715986 Silent SNP G A p.L186L yes
SLC24A5 15 48431364 48431364 Missense_Mutation SNP C T p.T357I yes
SLC25A10 17 79682606 79682606 Silent SNP G A p.L104L yes
SLC25A17 22 41195058 41195058 Frame_Shift_Del DEL A – p.F28fs yes
SLC25A19 17 73282469 73282469 Silent SNP C T p.Q68Q yes
SLC25A19 17 73273445 73273445 Missense_Mutation SNP C A p.A255S yes
SLC25A22 11 794852 794852 Missense_Mutation SNP T C p.T24A yes
SLC25A24 1 108742798 108742798 De_novo_Start_OutOfFrame SNP C T yes
SLC25A42 19 19221415 19221415 Silent SNP C T p.R229R yes
SLC26A7 8 92401593 92401593 Missense_Mutation SNP A T p.E568V yes
SLC26A9 1 205898467 205898467 Silent SNP G A p.C245C yes
SLC27A4 9 131107483 131107483 Nonsense_Mutation SNP C T p.Q71* yes
SLC27A4 9 131107775 131107775 Missense_Mutation SNP G A p.C168Y yes
SLC29A1 6 44198347 44198347 Missense_Mutation SNP C T p.T211I yes
SLC2A3 12 8086484 8086484 Silent SNP C T p.L10L yes
SLC2A9 4 10020640 10020640 Missense_Mutation SNP G A p.L70F yes
SLC34A3 9 140130683 140130683 Missense_Mutation SNP C T p.P539S yes
SLC35D1 1 67470053 67470066 Frame_Shift_Del DEL CTTGTTATTAGCCT – p.EANNK342fs yes
SLC35E2 1 1669784 1669784 Missense_Mutation SNP G A p.R188W yes
SLC35E2B 1 1602995 1602995 Silent SNP G A p.F220F yes
SLC38A10 17 79219596 79219596 Silent SNP G A p.D1040D yes
SLC38A10 17 79219652 79219652 Missense_Mutation SNP G A p.L1022F yes
SLC38A10 17 79219663 79219663 Missense_Mutation SNP G A p.P1018L yes
SLC39A1 1 153934816 153934816 Silent SNP C T p.Q66Q yes
SLC39A11 17 70943945 70943945 Missense_Mutation SNP C T p.D126N yes
SLC39A13 11 47436639 47436639 Silent SNP C T p.F323F yes
SLC39A13 11 47436379 47436379 Missense_Mutation SNP G A p.A280T yes
SLC39A3 19 2733123 2733123 Nonsense_Mutation SNP G A p.Q191* yes
SLC39A4 8 145640147 145640147 Missense_Mutation SNP G A p.S313F yes
SLC39A4 8 145640223 145640223 Missense_Mutation SNP C T p.V288M yes
SLC39A4 8 145640232 145640232 Missense_Mutation SNP G T p.Q285K yes
SLC39A4 8 145638651 145638651 Missense_Mutation SNP C A p.V533L yes
SLC41A2 12 105303493 105303493 Silent SNP A G p.P201P yes
SLC44A2 19 10736972 10736972 Silent SNP C T p.Y27Y yes
SLC44A2 19 10742719 10742719 Splice_Site SNP G A yes
SLC44A4 6 31846750 31846750 Frame_Shift_Del DEL C – p.G3fs yes
SLC44A4 6 31833324 31833324 Nonsense_Mutation SNP C T p.W546* yes
SLC45A4 8 142226013 142226013 Silent SNP G A p.L545L yes
SLC4A1 17 42337262 42337262 Missense_Mutation SNP G T p.P175H yes
SLC4A11 20 3209794 3209794 Silent SNP G A p.L671L yes
SLC4A11 20 3210214 3210214 Silent SNP C A p.L582L yes
SLC4A1AP 2 27887138 27887138 Missense_Mutation SNP G T p.K173N yes
SLC4A8 12 51873918 51873918 Frame_Shift_Del DEL T – p.V719fs yes
SLC4A9 5 139741747 139741747 Missense_Mutation SNP C T p.S260F yes
SLC52A2 8 145584347 145584347 Missense_Mutation SNP G A p.G367S yes
SLC5A2 16 31498957 31498957 Missense_Mutation SNP C G p.F254L yes
SLC6A11 3 10865057 10865057 Silent SNP C A p.S201S yes
SLC6A11 3 10858067 10858075 In_Frame_Del DEL GCGCGTCAA – p.RVK40del yes
SLC6A15 12 85266865 85266865 Splice_Site SNP C T yes
SLC6A17 1 110717541 110717541 Missense_Mutation SNP G C p.V238L yes
SLC6A5 11 20629091 20629091 Missense_Mutation SNP A T p.Y293F yes
SLC7A9 19 33355588 33355588 Missense_Mutation SNP G A p.A61V yes
SLC9A1 1 27440580 27440580 Missense_Mutation SNP C T p.E184K yes
SLC9A3R2 16 2077203 2077203 Missense_Mutation SNP G A p.G66D yes
SLC9A3R2 16 2077159 2077159 Silent SNP C T p.R51R yes
SLC9A9 3 143550973 143550973 Missense_Mutation SNP C T p.S89N yes
SLC9C1 3 112005609 112005610 Frame_Shift_Ins INS – A p.F10fs yes
SLCO1C1 12 20885995 20885995 Missense_Mutation SNP T C p.C447R yes
SLCO5A1 8 70585215 70585215 Frame_Shift_Del DEL T – p.K812fs yes
SLITRK4 0 142718797 142718797 Missense_Mutation SNP C T p.C43Y yes
SLITRK5 13 88330040 88330040 Silent SNP G A p.P799P yes
SLMAP 3 57843850 57843850 Silent SNP A G p.L217L yes
SLURP1 8 143823748 143823748 Missense_Mutation SNP C T p.C19Y yes
SLX4 16 3641002 3641002 Nonsense_Mutation SNP C T p.W879* yes
SMAD9 13 37427633 37427633 Missense_Mutation SNP C T p.A395T yes
SMC1A 0 53407026 53407026 Nonstop_Mutation SNP A G p.*1234Q no
SMG5 1 156247029 156247029 Missense_Mutation SNP T C p.I101V yes
SMO 7 128852025 128852025 Silent SNP T C p.S699S no
SMPD3 16 68405904 68405904 Missense_Mutation SNP C T p.A61T yes
SMTN 22 31493016 31493016 Missense_Mutation SNP G A p.V687M yes
SMTNL1 11 57317474 57317474 Silent SNP G A p.V421V yes
SMYD4 17 1731216 1731216 Missense_Mutation SNP C T p.V25I yes
SNAPC2 19 7985289 7985289 Missense_Mutation SNP G A p.R13H yes
SNAPC4 9 139278040 139278040 Silent SNP G A p.S527S yes
SNED1 2 242009474 242009474 Silent SNP C T p.R1149R yes
SNRNP200 2 96945221 96945221 Missense_Mutation SNP G A p.R1701C yes
SNRNP25 16 104007 104007 Missense_Mutation SNP G T p.E6D yes
SNRNP25 16 104011 104011 Missense_Mutation SNP C G p.L8V yes
SNRNP25 16 104015 104015 Missense_Mutation SNP C G p.A9G yes
SNX18 5 53814109 53814109 Missense_Mutation SNP G C p.Q109H yes
SNX19 11 130784487 130784487 Missense_Mutation SNP C T p.D450N yes
SNX32 11 65620225 65620225 Missense_Mutation SNP A G p.Q346R yes
SOCS1 16 11349206 11349206 Missense_Mutation SNP C T p.A44T no
SOCS1 16 11349223 11349223 Missense_Mutation SNP C T p.R38H no
SOCS3 17 76354805 76354805 Silent SNP C T p.V124V yes
SOCS7 17 36508765 36508765 Missense_Mutation SNP G A p.R213H yes
SOD2 6 160113808 160113808 Silent SNP G A p.A37A yes
SON 21 34922273 34922273 Missense_Mutation SNP G A p.A246T yes
SORBS1 10 97096980 97096980 Frame_Shift_Del DEL G – p.P979fs yes
SORT1 1 109912156 109912156 Missense_Mutation SNP G A p.T121I yes
SOX12 20 306942 306943 Frame_Shift_Ins INS – C p.RP125fs yes
SOX3 0 139586456 139586456 Missense_Mutation SNP C G p.R257P yes
SOX3 0 139586345 139586347 In_Frame_Del DEL GGC – p.293_294PP>P yes
SOX8 16 1034886 1034886 Missense_Mutation SNP G A p.D281N yes
SP110 2 231042924 231042924 Missense_Mutation SNP C T p.V466M yes
SP3 2 174820423 174820423 Missense_Mutation SNP C T p.D273N yes
SPAG16 2 214149290 214149290 Missense_Mutation SNP A G p.D28G yes
SPAG4 20 34204156 34204156 Silent SNP G A p.Q77Q yes
SPAG5 17 26906382 26906382 Splice_Site SNP C A yes
SPAG9 17 49077041 49077041 Frame_Shift_Del DEL T – p.R549fs yes
SPAM1 7 123594163 123594163 Missense_Mutation SNP G T p.S180I yes
SPATA2 20 48522550 48522550 Missense_Mutation SNP C T p.C390Y yes
SPATA25 20 44515592 44515592 Missense_Mutation SNP C G p.R83P yes
SPATA31D1 9 84605753 84605753 Missense_Mutation SNP T G p.L123R yes
SPATA32 17 43332867 43332867 Silent SNP G A p.L228L yes
SPATA32 17 43332872 43332872 Missense_Mutation SNP G A p.P226L yes
SPATA6 1 48917230 48917230 Missense_Mutation SNP G A p.L78F yes
SPEF1 20 3758925 3758925 Missense_Mutation SNP C A p.Q215H yes
SPEN 1 16259972 16259972 Nonsense_Mutation SNP C T p.Q2413* no
SPEN 1 16259043 16259043 Frame_Shift_Del DEL G – p.R2103fs no
SPEN 1 16258294 16258294 Silent SNP G A p.K1853K no
SPG11 15 44887472 44887472 Silent SNP G A p.F1540F yes
SPHK2 19 49132095 49132095 Missense_Mutation SNP G C p.D344H yes
SPIDR 8 48196668 48196668 Missense_Mutation SNP C T p.P81S yes
SPIDR 8 48206479 48206479 Missense_Mutation SNP G C p.E129Q yes
SPINT3 20 44144245 44144245 Nonsense_Mutation SNP G A p.Q2* yes
SPON2 4 1165848 1165848 Silent SNP G A p.P4P yes
SPON2 4 1165850 1165850 Missense_Mutation SNP G A p.P4S yes
SPPL2A 15 51040918 51040918 Silent SNP A G p.A109A yes
SPPL2C 17 43923825 43923825 Missense_Mutation SNP G A p.C518Y yes
SPRYD3 12 53473102 53473102 Missense_Mutation SNP G A p.R6W yes
SPRYD4 12 56862843 56862844 Frame_Shift_Ins INS – A p.E36fs yes
SPTAN1 9 131340405 131340405 Missense_Mutation SNP G A p.A368T yes
SPTAN1 9 131366697 131366697 Splice_Site SNP G A yes
SPTBN1 2 54873406 54873406 Missense_Mutation SNP G A p.D1554N yes
SPTBN2 11 66468632 66468632 Missense_Mutation SNP C A p.V980F yes
SPTBN2 11 66472283 66472283 Missense_Mutation SNP C T p.E822K yes
SPTBN2 11 66488644 66488644 Missense_Mutation SNP T C p.N23S yes
SPTBN4 19 41008148 41008148 Silent SNP T C p.F337F yes
SPTBN4 19 41074007 41074007 Nonsense_Mutation SNP G T p.E2259* yes
SPTBN5 15 42147161 42147161 Missense_Mutation SNP T C p.K3146R yes
SPTBN5 15 42166669 42166669 Missense_Mutation SNP G A p.L1504F yes
SPTBN5 15 42146396 42146396 Missense_Mutation SNP G A p.A3209V yes
SPTY2D1 11 18636448 18636448 Missense_Mutation SNP G C p.P458R yes
SPZ1 5 79616081 79616081 Missense_Mutation SNP C T p.T16I yes
SRCAP 16 30727497 30727497 Silent SNP C T p.L868L yes
SRCIN1 17 36717912 36717912 Missense_Mutation SNP G A p.S496L yes
SRCRB4D 7 76022786 76022786 Silent SNP G A p.C423C yes
SREBF1 17 17720408 17720408 Missense_Mutation SNP C A p.W550L yes
SREBF1 17 17720412 17720412 Missense_Mutation SNP C T p.V549I yes
SREBF1 17 17740112 17740112 Missense_Mutation SNP C T p.S7N yes
SREBF1 17 17716140 17716140 Silent SNP C T p.R1080R yes
SREK1 5 65465943 65465943 Frame_Shift_Del DEL A – p.K241fs yes
SRL 16 4242708 4242708 Missense_Mutation SNP C T p.V290I yes
SRP19 5 112203164 112203164 Missense_Mutation SNP C A p.T122K yes
SRPR 11 126137087 126137087 Frame_Shift_Del DEL T – p.K170fs yes
SRRM2 16 2814844 2814844 Missense_Mutation SNP A G p.S1439G yes
SS18 18 23615012 23615014 In_Frame_Del DEL CTG – p.Q351del no
SSC5D 19 56011514 56011514 Missense_Mutation SNP G C p.E679D yes
SSC5D 19 56011886 56011886 Missense_Mutation SNP C A p.P778T yes
SSH3 11 67075717 67075717 Silent SNP C T p.L320L yes
SSR2 1 155988097 155988097 Missense_Mutation SNP G A p.S73F yes
SSTR2 17 71166527 71166527 Nonsense_Mutation SNP C T p.Q357* yes
SSTR5 16 1128992 1128992 Silent SNP C T p.L42L yes
SSX7 0 52679424 52679424 Frame_Shift_Del DEL C – p.R103fs yes
ST14 11 130078434 130078434 Silent SNP C T p.F708F yes
ST3GAL2 16 70416725 70416725 Silent SNP G A p.L288L yes
ST3GAL2 16 70422430 70422430 Missense_Mutation SNP C T p.V185M yes
ST6GALNAC2 17 74568846 74568846 Missense_Mutation SNP G A p.A181V yes
ST7 7 116759636 116759636 Missense_Mutation SNP C T p.R86C yes
STAB1 3 52540785 52540785 Missense_Mutation SNP G A p.M636I yes
STAB1 3 52541660 52541660 Missense_Mutation SNP C A p.T674N yes
STAB1 3 52553551 52553551 Missense_Mutation SNP G T p.G1736C yes
STAB1 3 52556437 52556437 Missense_Mutation SNP G T p.G2186V yes
STAB1 3 52557043 52557043 Missense_Mutation SNP G C p.V2305L yes
STAB1 3 52557893 52557893 Missense_Mutation SNP G A p.V2468M yes
STAB1 3 52539131 52539131 Frame_Shift_Del DEL C – p.A497fs yes
STAG2 0 123179091 123179091 Silent SNP C T p.G180G no
STAP2 19 4338725 4338725 Missense_Mutation SNP C G p.R9P yes
STAR 8 38003815 38003815 Frame_Shift_Del DEL C – p.E153fs yes
STARD10 11 72470298 72470298 Silent SNP A G p.A112A yes
STARD3 17 37817121 37817121 Missense_Mutation SNP C T p.A338V yes
STAT3 17 40468858 40468858 Nonsense_Mutation SNP G A p.Q736* no
STAT5A 17 40456581 40456581 Missense_Mutation SNP G T p.G431C yes
STAU1 20 47768232 47768232 Missense_Mutation SNP C T p.V133M yes
STIM2 4 26862931 26862931 Missense_Mutation SNP G A p.A31T yes
STK11 19 1205884 1205884 De_novo_Start_OutOfFrame SNP G A no
STK11 19 1220594 1220594 Silent SNP C T p.F204F no
STK24 13 99109475 99109475 Silent SNP C T p.A414A yes
STK32C 10 134040299 134040299 Splice_Site SNP C T p.R98K yes
STOML1 15 74276430 74276430 Missense_Mutation SNP C T p.D349N yes
STOML2 9 35101925 35101925 Silent SNP G A p.Y106Y yes
STOX2 4 184931265 184931265 Missense_Mutation SNP G A p.S425N yes
STRA13 17 79977214 79977214 Silent SNP C T p.A62A yes
STRA6 15 74472511 74472511 Silent SNP G A p.R638R yes
STRN4 19 47231884 47231884 Frame_Shift_Del DEL G – p.H344fs yes
STX10 19 13260711 13260711 Splice_Site SNP G A p.G12G yes
STX12 1 28099905 28099905 Silent SNP C T p.C29C yes
STX3 11 59562895 59562895 Silent SNP C T p.H242H yes
STX3 11 59559656 59559656 Missense_Mutation SNP G A p.S145N yes
STX5 11 62598585 62598585 Frame_Shift_Del DEL G – p.P44fs yes
STXBP2 19 7711156 7711156 Silent SNP C T p.L460L yes
STXBP2 19 7706683 7706683 Missense_Mutation SNP G T p.Q174H yes
SUCNR1 3 151598763 151598763 Missense_Mutation SNP G T p.L144F yes
SUGP2 19 19136427 19136427 Missense_Mutation SNP G A p.L244F yes
SULF2 20 46365640 46365640 Silent SNP G A p.G74G yes
SULT6B1 2 37395161 37395161 Nonsense_Mutation SNP C A p.E277* yes
SUN2 22 39138497 39138497 Missense_Mutation SNP C T p.E293K yes
SUPT20H 13 37605741 37605741 Missense_Mutation SNP C T p.R295Q yes
SUPV3L1 10 70940245 70940245 Silent SNP C T p.P66P yes
SUSD1 9 114886645 114886645 Missense_Mutation SNP C A p.G260C yes
SUSD2 22 24582075 24582075 Silent SNP G A p.A477A yes
SUSD2 22 24584238 24584238 Missense_Mutation SNP C T p.A796V yes
SUV420H1 11 67925781 67925781 Missense_Mutation SNP C A p.V678L yes
SVOPL 7 138314859 138314861 In_Frame_Del DEL TCT – p.R266del yes
SYBU 8 110587254 110587254 Missense_Mutation SNP C T p.A625T yes
SYCE2 19 13030064 13030064 Missense_Mutation SNP C T p.R3Q yes
SYCP1 1 115466153 115466153 Splice_Site SNP T C yes
SYCP2 20 58495462 58495462 Silent SNP C T p.L83L yes
SYCP2 20 58467712 58467712 Missense_Mutation SNP C T p.S613N yes
SYCP2L 6 10891763 10891763 Missense_Mutation SNP G T p.L9F yes
SYCP3 12 102122901 102122901 Frame_Shift_Del DEL T – p.I215fs yes
SYK 9 93641128 93641128 Missense_Mutation SNP C T p.H492Y no
SYNCRIP 6 86332354 86332354 Frame_Shift_Del DEL T – p.N285fs yes
SYNE1 6 152631641 152631641 Missense_Mutation SNP A T p.F5637I yes
SYNE1 6 152806098 152806098 Missense_Mutation SNP G T p.H353N yes
SYNE2 14 64625487 64625487 Silent SNP T C p.L5313L yes
SYNE2 14 64556367 64556367 Missense_Mutation SNP A C p.K3916Q yes
SYNE3 14 95910864 95910864 Silent SNP C T p.Q578Q yes
SYNE3 14 95934212 95934212 Silent SNP C T p.Q79Q yes
SYNGAP1 6 33412313 33412313 Silent SNP C T p.D1167D yes
SYNGAP1 6 33400013 33400013 Missense_Mutation SNP C T p.A124V yes
SYNGR2 17 76167056 76167056 Silent SNP G A p.L86L yes
SYNGR2 17 76164783 76164783 Missense_Mutation SNP G C p.R29P yes
SYNGR3 16 2042761 2042761 Silent SNP C T p.F154F yes
SYNGR3 16 2042659 2042659 Missense_Mutation SNP C G p.F120L yes
SYNGR3 16 2042864 2042864 Splice_Site SNP G A p.V161M yes
SYNJ2 6 158508009 158508009 Frame_Shift_Del DEL C – p.P1114fs yes
SYNRG 17 35913856 35913856 Missense_Mutation SNP C T p.A657T yes
SYPL2 1 110022068 110022068 Missense_Mutation SNP G T p.W239C yes
SYT12 11 66807568 66807568 Missense_Mutation SNP C T p.A172V yes
SYT15 10 46968635 46968635 Missense_Mutation SNP A G p.W101R yes
SYTL1 1 27674362 27674362 Missense_Mutation SNP C A p.P135Q yes
SYTL1 1 27679944 27679944 Missense_Mutation SNP G A p.R505H yes
SYTL1 1 27676514 27676514 Missense_Mutation SNP C T p.R267C yes
SZT2 1 43868935 43868935 Silent SNP C T p.L39L yes
SZT2 1 43886599 43886599 Missense_Mutation SNP A G p.I481V yes
SZT2 1 43886602 43886602 Missense_Mutation SNP C A p.R482S yes
TACC3 4 1729644 1729644 Missense_Mutation SNP G A p.G172E yes
TADA2B 4 7056007 7056007 Silent SNP G A p.Q163Q yes
TADA2B 4 7056075 7056075 Missense_Mutation SNP G A p.S186N yes
TADA2B 4 7056077 7056077 Missense_Mutation SNP G C p.G187R yes
TADA2B 4 7056149 7056149 Missense_Mutation SNP C T p.R211W yes
TADA2B 4 7056185 7056185 Missense_Mutation SNP G C p.A223P yes
TADA2B 4 7056189 7056189 Missense_Mutation SNP G T p.R224L yes
TADA3 3 9831228 9831228 Silent SNP G A p.L177L yes
TADA3 3 9831567 9831567 Frame_Shift_Del DEL G – p.P96fs yes
TAF1 0 70603000 70603000 Frame_Shift_Del DEL A – p.K646fs yes
TAF4 20 60640158 60640158 Missense_Mutation SNP C G p.V237L yes
TAF6L 11 62554695 62554695 Missense_Mutation SNP C T p.P599L yes
TAF6L 11 62554402 62554402 Frame_Shift_Del DEL C – p.S501fs yes
TAF9B 0 77387234 77387234 Frame_Shift_Del DEL T – p.N210fs yes
TANC1 2 160028706 160028706 Missense_Mutation SNP G A p.A476T yes
TAS1R1 1 6634897 6634897 Silent SNP G A p.Q235Q yes
TAS1R1 1 6631038 6631038 Missense_Mutation SNP C G p.N87K yes
TAS1R3 1 1267282 1267282 Silent SNP C T p.V152V yes
TAS1R3 1 1268925 1268925 Missense_Mutation SNP C T p.S547F yes
TAS1R3 1 1269252 1269252 Missense_Mutation SNP C T p.A656V yes
TBC1D10A 22 30688540 30688540 Missense_Mutation SNP G T p.P451T yes
TBC1D10A 22 30688798 30688798 Missense_Mutation SNP G C p.H365D yes
TBC1D10B 16 30376225 30376226 Frame_Shift_Ins INS – C p.H423fs yes
TBC1D17 19 50383607 50383607 Nonsense_Mutation SNP G A p.W89* yes
TBC1D17 19 50383639 50383639 Missense_Mutation SNP G A p.C100Y yes
TBC1D30 12 65269445 65269445 Silent SNP T A p.S884S yes
TBC1D32 6 121631993 121631993 Splice_Site SNP T C p.S166G yes
TBC1D5 3 17469995 17469996 Frame_Shift_Ins INS – T p.N38fs yes
TBC1D9 4 141548598 141548598 Missense_Mutation SNP G A p.H966Y yes
TBC1D9B 5 179290766 179290766 Silent SNP G A p.D1145D yes
TBCD 17 80714060 80714060 Silent SNP G A p.Q68Q yes
TBCK 4 107016741 107016741 Silent SNP A G p.T823T yes
TBKBP1 17 45786742 45786742 Missense_Mutation SNP G A p.G548D yes
TBKBP1 17 45786236 45786236 Silent SNP G A p.S379S yes
TBKBP1 17 45786404 45786404 Silent SNP C T p.G435G yes
TBRG4 7 45145347 45145347 Missense_Mutation SNP T C p.H143R yes
TBX19 1 168260524 168260524 Silent SNP C T p.P110P yes
TCAIM 3 44399330 44399330 Missense_Mutation SNP G A p.V43I yes
TCEA3 1 23713827 23713827 Missense_Mutation SNP C A p.G302V yes
TCEA3 1 23724286 23724286 Splice_Site SNP G A p.D202D yes
TCEA3 1 23724290 23724290 Missense_Mutation SNP G A p.A201V yes
TCEAL6 0 101395934 101395934 Missense_Mutation SNP C A p.D124Y yes
TCEANC2 1 54554316 54554316 Silent SNP T C p.A97A yes
TCERG1 5 145890173 145890173 Missense_Mutation SNP G A p.A1089T yes
TCF3 19 1615512 1615512 Missense_Mutation SNP C T p.E532K no
TCIRG1 11 67810930 67810930 Missense_Mutation SNP G A p.R199K yes
TCIRG1 11 67810451 67810451 Silent SNP G A p.T152T yes
TCL1B 14 96152766 96152766 De_novo_Start_OutOfFrame SNP C A yes
TCN2 22 31003323 31003323 Missense_Mutation SNP G A p.R2K yes
TCTN2 12 124172701 124172701 Missense_Mutation SNP A G p.K290E yes
TDRD1 10 115962033 115962033 Silent SNP A G p.T224T yes
TDRD3 13 61103330 61103330 Silent SNP A G p.A564A yes
TECPR2 14 102901510 102901510 Silent SNP C T p.L786L yes
TECTA 11 120996285 120996285 Missense_Mutation SNP A G p.Y493C yes
TEDDM1 1 182369495 182369495 Missense_Mutation SNP A C p.F42L yes
TEK 9 27158026 27158026 Frame_Shift_Del DEL A – p.K85fs yes
TENM1 0 123870894 123870894 Missense_Mutation SNP G A p.A230V yes
TENM2 5 166711855 166711855 Missense_Mutation SNP G A p.D5N yes
TENM3 4 183594344 183594344 Missense_Mutation SNP G A p.R433Q yes
TET3 2 74275438 74275438 Silent SNP C T p.F663F yes
TET3 2 74273532 74273532 Missense_Mutation SNP C T p.A28V yes
TET3 2 74326622 74326622 Nonsense_Mutation SNP C T p.Q1028* yes
TEX11 0 69898690 69898690 Silent SNP G A p.H417H yes
TEX15 8 30705367 30705367 Silent SNP G C p.P389P yes
TEX15 8 30705375 30705375 Missense_Mutation SNP C G p.D387H yes
TFCP2 12 51500373 51500373 Silent SNP C T p.T284T yes
TFDP2 3 141682656 141682656 Silent SNP G A p.D294D yes
TFE3 0 48887952 48887952 Frame_Shift_Del DEL C – p.G482fs no
TFPI2 7 93518492 93518492 Silent SNP C T p.Q105Q yes
TFPT 19 54617952 54617952 Missense_Mutation SNP C A p.G51V no
TFPT 19 54617948 54617948 Silent SNP C G p.L52L no
TFRC 3 195798911 195798911 Missense_Mutation SNP G A p.R183C no
TGM2 20 36775233 36775233 Missense_Mutation SNP C T p.V249I yes
TGS1 8 56699005 56699005 Missense_Mutation SNP C T p.P183L yes
THAP4 2 242572874 242572874 Missense_Mutation SNP C T p.G233D yes
THBS3 1 155166985 155166985 Missense_Mutation SNP C G p.G840A yes
THBS3 1 155172069 155172069 Missense_Mutation SNP C T p.A361T yes
THEG 19 375680 375680 Silent SNP C T p.E97E yes
THEG 19 375686 375686 Silent SNP C T p.L95L yes
THEG 19 375698 375698 Silent SNP C G p.L91L yes
THEMIS2 1 28208641 28208641 Missense_Mutation SNP C T p.P269L yes
THEMIS2 1 28209082 28209082 Missense_Mutation SNP G C p.S416T yes
THSD1 13 52972019 52972019 Silent SNP C T p.L123L yes
THUMPD1 16 20748556 20748556 Silent SNP C T p.Q236Q yes
TIAM1 21 32526578 32526578 Missense_Mutation SNP C T p.R1053H yes
TIAM2 6 155485666 155485666 Missense_Mutation SNP G A p.A716T yes
TICRR 15 90168570 90168570 Missense_Mutation SNP A C p.T1677P yes
TIGD2 4 90034490 90034490 Missense_Mutation SNP C T p.S122L yes
TIGD5 8 144680763 144680763 Silent SNP C T p.G230G yes
TIGD5 8 144680705 144680705 Missense_Mutation SNP C T p.S211F yes
TIGD5 8 144680727 144680727 Missense_Mutation SNP C G p.D218E yes
TIGD5 8 144680776 144680776 Nonsense_Mutation SNP C T p.Q235* yes
TIGD5 8 144680798 144680798 Missense_Mutation SNP C T p.T242I yes
TIMELESS 12 56825266 56825266 Missense_Mutation SNP C A p.Q270H yes
TIMM10B 11 6503328 6503328 Silent SNP C T p.L63L yes
TIMP3 22 33255183 33255183 Missense_Mutation SNP A G p.Y152C yes
TJP1 15 30010600 30010601 Frame_Shift_Ins INS – T p.T1249fs yes
TJP3 19 3738994 3738994 Missense_Mutation SNP G A p.R498H yes
TK1 17 76183031 76183031 Missense_Mutation SNP G C p.S15R yes
TKT 3 53264603 53264603 Missense_Mutation SNP G A p.A326V yes
TLDC1 16 84513616 84513616 Missense_Mutation SNP C T p.S425N yes
TLN1 9 35700040 35700040 Silent SNP C G p.R2233R yes
TLN1 9 35700048 35700048 Missense_Mutation SNP C G p.D2231H yes
TLN1 9 35704458 35704458 Missense_Mutation SNP C G p.R1973P yes
TLR10 4 38775369 38775369 Nonsense_Mutation SNP G A p.Q615* yes
TLR6 4 38829360 38829360 Missense_Mutation SNP C T p.E579K yes
TM2D2 8 38853886 38853886 Missense_Mutation SNP G C p.L25V yes
TM9SF1 14 24662043 24662043 Missense_Mutation SNP C T p.V260M yes
TMBIM4 12 66531937 66531937 Frame_Shift_Del DEL A – p.Y174fs yes
TMC6 17 76113900 76113900 Silent SNP G T p.L668L yes
TMC6 17 76117736 76117736 Silent SNP C T p.L428L yes
TMC8 17 76130602 76130602 Missense_Mutation SNP G T p.S315I yes
TMED2 12 124071368 124071368 Silent SNP C T p.H85H yes
TMEM101 17 42089299 42089299 Silent SNP G A p.G257G yes
TMEM127 2 96919685 96919685 Missense_Mutation SNP G T p.A193D no
TMEM127 2 96920725 96920725 Missense_Mutation SNP C T p.M85I no
TMEM131 2 98422067 98422067 Missense_Mutation SNP A T p.Y719N yes
TMEM143 19 48836539 48836539 Silent SNP T A p.L439L yes
TMEM145 19 42827745 42827745 Missense_Mutation SNP G A p.R402H yes
TMEM168 7 112424649 112424649 Missense_Mutation SNP C T p.A78T yes
TMEM175 4 941575 941575 Silent SNP C T p.D16D yes
TMEM178A 2 39893267 39893267 Frame_Shift_Del DEL C – p.D51fs yes
TMEM181 6 159028360 159028360 Missense_Mutation SNP C A p.L357M yes
TMEM184A 7 1595021 1595021 Nonsense_Mutation SNP G A p.Q34* yes
TMEM187 0 153248176 153248176 Silent SNP G A p.Q221Q yes
TMEM187 0 153247739 153247739 Missense_Mutation SNP G T p.G76C yes
TMEM2 9 74340558 74340558 Missense_Mutation SNP G A p.A706V yes
TMEM205 19 11453758 11453758 Silent SNP G A p.V101V yes
TMEM229A 7 123672074 123672074 Silent SNP G A p.L328L yes
TMEM229B 14 67940558 67940558 Missense_Mutation SNP G A p.T28I yes
TMEM244 6 130154693 130154696 Frame_Shift_Del DEL ACAA – p.VC76fs yes
TMEM255B 13 114498181 114498181 Missense_Mutation SNP G A p.V105M yes
TMEM30B 14 61747522 61747522 Missense_Mutation SNP G A p.T115I yes
TMEM39A 3 119155724 119155724 Silent SNP G A p.Y342Y yes
TMEM41A 3 185209361 185209361 Missense_Mutation SNP A T p.S253R yes
TMEM52 1 1849390 1849390 Silent SNP C T p.E187E yes
TMEM54 1 33360456 33360456 Nonsense_Mutation SNP C A p.E207* yes
TMEM55A 8 92052961 92052961 Missense_Mutation SNP A C p.V6G yes
TMEM63B 6 44116664 44116664 Silent SNP G A p.K465K yes
TMEM79 1 156255424 156255424 Missense_Mutation SNP G A p.C136Y yes
TMEM82 1 16070888 16070888 Silent SNP C T p.C190C yes
TMEM82 1 16070942 16070942 Silent SNP G T p.L208L yes
TMEM8A 16 425426 425426 Missense_Mutation SNP G A p.R412W yes
TMEM91 19 41889707 41889707 Silent SNP C T p.L150L yes
TMF1 3 69096558 69096558 Missense_Mutation SNP G T p.P433H yes
TMPRSS12 12 51252715 51252715 Frame_Shift_Del DEL A – p.L177fs yes
TMPRSS7 3 111775949 111775949 Silent SNP G A p.E427E yes
TMPRSS9 19 2425488 2425488 Nonsense_Mutation SNP C A p.C1005* yes
TMTC4 13 101288855 101288855 Missense_Mutation SNP G A p.A359V yes
TMUB2 17 42266845 42266845 Missense_Mutation SNP G A p.S164N yes
TMX2 11 57505494 57505494 Silent SNP C T p.C120C yes
TNFAIP2 14 103593743 103593743 Missense_Mutation SNP C T p.P213S yes
TNFAIP2 14 103593854 103593854 Missense_Mutation SNP G A p.A250T yes
TNFRSF10B 8 22885901 22885901 Missense_Mutation SNP C T p.V231I yes
TNFRSF11A 18 60036015 60036015 Missense_Mutation SNP A T p.T289S yes
TNFRSF14 1 2492122 2492122 Missense_Mutation SNP G T p.G174W no
TNFRSF1A 12 6438694 6438694 Missense_Mutation SNP C A p.E384D yes
TNFRSF4 1 1147465 1147465 Missense_Mutation SNP G A p.A164V yes
TNFRSF9 1 7980912 7980914 In_Frame_Del DEL CTT – p.E250del yes
TNIP2 4 2746616 2746616 Silent SNP C A p.V238V yes
TNIP2 4 2749414 2749414 Missense_Mutation SNP G T p.Q179K yes
TNIP3 4 122059836 122059836 Missense_Mutation SNP C A p.D297Y yes
TNK2 3 195594776 195594776 Missense_Mutation SNP G A p.P783L yes
TNK2 3 195594462 195594462 Frame_Shift_Del DEL G – p.L888fs yes
TNPO2 19 12816354 12816354 Silent SNP G A p.V605V yes
TNPO2 19 12816357 12816357 Silent SNP G C p.P604P yes
TNRC18 7 5352821 5352821 Silent SNP G A p.S2567S yes
TNRC6C 17 76046611 76046611 Frame_Shift_Del DEL G – p.G491fs yes
TNXB 6 32029300 32029300 Missense_Mutation SNP G A p.R2456C yes
TNXB 6 32064731 32064731 Missense_Mutation SNP C A p.G300V yes
TOMM40 19 45397245 45397245 Nonsense_Mutation SNP C T p.Q189* yes
TOMM70A 3 100103423 100103423 Missense_Mutation SNP G A p.A212V yes
TONSL 8 145661117 145661117 Missense_Mutation SNP G A p.S900L yes
TONSL 8 145661319 145661319 Missense_Mutation SNP C A p.G833W yes
TOR4A 9 140173830 140173830 Missense_Mutation SNP G A p.C230Y yes
TP53 17 7577036 7577036 Frame_Shift_Del DEL G – p.P301fs no
TP73 1 3644750 3644750 Missense_Mutation SNP G T p.R348L yes
TPCN1 12 113664714 113664714 Silent SNP C T p.G19G yes
TPCN1 12 113716014 113716014 Missense_Mutation SNP T C p.I402T yes
TPCN2 11 68822220 68822220 Missense_Mutation SNP G A p.S69N yes
TPI1 12 6979520 6979520 Silent SNP C T p.F278F yes
TPM2 9 35684786 35684786 Missense_Mutation SNP C A p.E194D yes
TPRG1L 1 3545108 3545108 Missense_Mutation SNP T C p.F254L yes
TPRN 9 140093529 140093529 Silent SNP G A p.R545R yes
TPRN 9 140093462 140093462 Missense_Mutation SNP T C p.K568E yes
TPTE 21 10906931 10906931 Missense_Mutation SNP T C p.S544G yes
TRABD 22 50636568 50636568 Silent SNP C T p.G303G yes
TRABD 22 50632838 50632838 Missense_Mutation SNP C T p.P61L yes
TRAF3 14 103336671 103336671 Missense_Mutation SNP A G p.K45E yes
TRAF3 14 103342857 103342857 Missense_Mutation SNP C G p.L189V yes
TRAF3IP1 2 239229427 239229427 Splice_Site SNP G T yes
TRAF7 16 2220640 2220640 Missense_Mutation SNP C T p.S86F no
TRANK1 3 36902437 36902437 Silent SNP C T p.Q441Q yes
TRAPPC12 2 3391817 3391817 Silent SNP C T p.G141G yes
TRAPPC3 1 36614974 36614974 Silent SNP C A p.S2S yes
TRAPPC3 1 36614973 36614973 Missense_Mutation SNP T A p.R3W yes
TRAPPC9 8 141461449 141461449 Silent SNP C T p.Q8Q yes
TRAPPC9 8 141297820 141297820 Missense_Mutation SNP C T p.S623N yes
TRDMT1 10 17199587 17199587 Missense_Mutation SNP T G p.D247A yes
TRDMT1 10 17204235 17204235 Splice_Site SNP T C p.I85V yes
TRERF1 6 42236838 42236838 Missense_Mutation SNP T C p.Q164R yes
TRIM23 5 64892899 64892899 Missense_Mutation SNP T C p.M430V yes
TRIM28 19 59061831 59061831 Missense_Mutation SNP G A p.A807T yes
TRIM36 5 114499271 114499271 Missense_Mutation SNP G T p.P81H yes
TRIM50 7 72738675 72738675 Missense_Mutation SNP C A p.K37N yes
TRIM65 17 73887915 73887915 Silent SNP G A p.L322L yes
TRIM65 17 73888118 73888118 Missense_Mutation SNP G A p.A298V yes
TRIM66 11 8645933 8645933 Missense_Mutation SNP C T p.A822T yes
TRIM67 1 231299227 231299227 Missense_Mutation SNP G A p.R171H yes
TRIM8 10 104416949 104416949 Silent SNP C T p.P498P yes
TRIO 5 14487670 14487670 Silent SNP C G p.G2311G yes
TRIOBP 22 38130731 38130731 Missense_Mutation SNP G A p.G1463E yes
TRIP10 19 6750003 6750003 Missense_Mutation SNP G A p.A441T yes
TRIP4 15 64710895 64710895 Silent SNP C A p.P442P yes
TRIT1 1 40349067 40349067 Missense_Mutation SNP C A p.G33C yes
TRMT10C 3 101284519 101284519 Missense_Mutation SNP G A p.M298I yes
TRMT44 4 8442898 8442898 Missense_Mutation SNP G A p.A117T yes
TRMT61A 14 103996563 103996563 Missense_Mutation SNP G A p.R83H yes
TROVE2 1 193038288 193038288 Missense_Mutation SNP G A p.R35Q yes
TRPC5 0 111019870 111019870 Missense_Mutation SNP A G p.Y865H yes
TRPM1 15 31332426 31332426 Silent SNP G A p.A737A yes
TRPM1 15 31294936 31294936 Frame_Shift_Del DEL T – p.T1323fs yes
TRPM2 21 45798929 45798929 Missense_Mutation SNP G A p.G355D yes
TRPM2 21 45789077 45789077 Frame_Shift_Del DEL G – p.G209fs yes
TRPS1 8 116599464 116599464 Missense_Mutation SNP C T p.A809T yes
TRPV4 12 110226474 110226474 Missense_Mutation SNP C G p.E647Q yes
TRPV6 7 142574966 142574966 Missense_Mutation SNP C T p.R139H yes
TRRAP 7 98478869 98478869 Silent SNP T C p.N32N no
TSC2 16 2135250 2135250 Missense_Mutation SNP C T p.S1530L no
TSC22D2 3 150128251 150128251 Missense_Mutation SNP G A p.V372I yes
TSEN54 17 73518308 73518308 Silent SNP G A p.K382K yes
TSKS 19 50247532 50247532 Missense_Mutation SNP C T p.M439I yes
TSPAN4 11 862641 862641 Missense_Mutation SNP C T p.S52L yes
TSPO 22 43558899 43558899 Missense_Mutation SNP T C p.L44P yes
TSPYL2 0 53112015 53112015 Missense_Mutation SNP C T p.T112M yes
TST 22 37414623 37414623 Missense_Mutation SNP G A p.R51C yes
TSTA3 8 144695741 144695741 Missense_Mutation SNP C T p.A255T yes
TTC18 10 75037045 75037045 Missense_Mutation SNP T C p.I895V yes
TTC28 22 28559254 28559254 Silent SNP G A p.L423L yes
TTC28 22 28378400 28378400 Nonsense_Mutation SNP G A p.Q2419* yes
TTC40 10 134622148 134622148 Missense_Mutation SNP G A p.A2642V yes
TTC6 14 38264559 38264559 Splice_Site SNP T C yes
TTC7A 2 47288102 47288102 Missense_Mutation SNP C T p.H783Y yes
TTC7B 14 91121397 91121397 Nonsense_Mutation SNP C A p.E467* yes
TTC9B 19 40723154 40723154 Silent SNP G A p.L184L yes
TTI1 20 36640329 36640329 Silent SNP C T p.Q630Q yes
TTI1 20 36634713 36634713 Missense_Mutation SNP C T p.A797T yes
TTI2 8 33357999 33357999 Silent SNP G A p.C423C yes
TTLL3 3 9876824 9876824 Missense_Mutation SNP G A p.C657Y yes
TTN 2 179441717 179441717 Silent SNP T C p.S21474S yes
TTN 2 179444496 179444496 Silent SNP G A p.H20835H yes
TTN 2 179408841 179408841 Splice_Site SNP T C p.E30369E yes
TTN 2 179453547 179453547 Missense_Mutation SNP G T p.P19328T yes
TTN 2 179577899 179577899 Missense_Mutation SNP G T p.L8671M yes
TTN 2 179633406 179633406 Missense_Mutation SNP C T p.V3053M yes
TTN 2 179535860 179535860 Frame_Shift_Del DEL T – p.K11381fs yes
TTYH1 19 54926828 54926828 Silent SNP G C p.A34A yes
TTYH3 7 2695740 2695740 Silent SNP C T p.R345R yes
TUBA3C 13 19748233 19748233 Missense_Mutation SNP C T p.V375M yes
TUBB1 20 57599261 57599261 Missense_Mutation SNP T C p.F260S yes
TUBB4A 19 6495651 6495651 Missense_Mutation SNP G T p.P287T yes
TUBG1 17 40765958 40765958 Missense_Mutation SNP C T p.P262L yes
TUBG2 17 40818234 40818234 Missense_Mutation SNP C A p.Q325K yes
TUBGCP2 10 135111533 135111533 Missense_Mutation SNP C A p.W180L yes
TUBGCP2 10 135111566 135111566 Frame_Shift_Del DEL T – p.N169fs yes
TUBGCP3 13 113181296 113181296 Silent SNP C T p.K505K yes
TUBGCP3 13 113209290 113209290 Missense_Mutation SNP C A p.V251L yes
TUBGCP5 15 22867558 22867558 Silent SNP G A p.Q878Q yes
TUBGCP6 22 50665242 50665242 Silent SNP C T p.Q507Q yes
TUT1 11 62342973 62342974 Frame_Shift_Ins INS – C p.P740fs yes
TXNRD1 12 104725315 104725315 Missense_Mutation SNP G A p.D328N yes
TYRO3 15 41865665 41865665 Splice_Site SNP G A p.V715V yes
TYW1 7 66660208 66660208 Missense_Mutation SNP G A p.V621M yes
UBA7 3 49849372 49849372 Silent SNP C G p.L290L yes
UBA7 3 49849906 49849906 Missense_Mutation SNP G A p.T210I yes
UBAC2 13 99896160 99896160 Silent SNP T C p.Y78Y yes
UBAP2 9 33941655 33941655 Missense_Mutation SNP T C p.T641A yes
UBB 17 16285491 16285491 Silent SNP C A p.T90T yes
UBD 6 29523900 29523900 Silent SNP A G p.D85D yes
UBE2N 12 93805012 93805012 Missense_Mutation SNP C T p.A32T yes
UBE2N 12 93805065 93805065 Missense_Mutation SNP C T p.R14H yes
UBE2O 17 74398193 74398193 Silent SNP C T p.T234T yes
UBE2O 17 74449190 74449190 Missense_Mutation SNP G A p.P12S yes
UBN1 16 4924222 4924222 Missense_Mutation SNP C T p.T604M yes
UBR5 8 103266708 103266708 Missense_Mutation SNP G A p.A2741V no
UBTF 17 42287064 42287064 Missense_Mutation SNP G T p.T555K yes
UBTF 17 42287070 42287070 Missense_Mutation SNP G C p.A553G yes
UBXN11 1 26608887 26608904 In_Frame_Del DEL GGACCGGGACAGGGACCA – p.483_489PGPCPGP>P yes
UBXN6 19 4457638 4457638 Frame_Shift_Del DEL G – p.P19fs yes
UCKL1 20 62577293 62577293 Silent SNP G A p.H149H yes
UCKL1 20 62587653 62587653 Missense_Mutation SNP C T p.G25S yes
UCP3 11 73714979 73714979 Silent SNP G A p.D239D yes
UFD1L 22 19442331 19442331 Missense_Mutation SNP T G p.K264Q yes
UFL1 6 96986634 96986634 Missense_Mutation SNP T G p.I369R yes
UGT2B11 4 70071225 70071225 Missense_Mutation SNP T C p.K355E yes
UGT2B28 4 70156375 70156375 Missense_Mutation SNP C G p.H386D yes
UGT2B4 4 70346381 70346381 Missense_Mutation SNP T C p.R520G yes
UGT2B7 4 69973922 69973922 Missense_Mutation SNP G A p.D398N yes
UHRF1BP1 6 34839438 34839438 Missense_Mutation SNP G T p.K1353N yes
UHRF1BP1 6 34826123 34826124 Frame_Shift_Ins INS – T p.L664fs yes
ULK1 12 132399763 132399763 Silent SNP G A p.T503T yes
UMODL1 21 43504229 43504229 Missense_Mutation SNP G A p.G119R yes
UNC119B 12 121154824 121154824 Missense_Mutation SNP C T p.P208S yes
UNC13C 15 54592541 54592541 Missense_Mutation SNP A T p.Y1413F yes
UNC45B 17 33491170 33491170 Missense_Mutation SNP G A p.C379Y yes
UNC93B1 11 67759101 67759101 Silent SNP C T p.R569R yes
UNK 17 73814863 73814863 Silent SNP C T p.F504F yes
UPF3A 13 115057211 115057212 Frame_Shift_Del DEL AA – p.K266fs yes
UPK1A 19 36159556 36159556 Splice_Site SNP G A p.T95T yes
UQCRFS1 19 29704078 29704078 De_novo_Start_OutOfFrame SNP C T yes
URGCP 7 43917081 43917081 Nonsense_Mutation SNP C A p.E661* yes
UROS 10 127500837 127500837 Missense_Mutation SNP C T p.E89K yes
USF1 1 161012642 161012642 Silent SNP C T p.G13G yes
USH2A 1 215963520 215963520 Missense_Mutation SNP G A p.P3355S yes
USH2A 1 216420292 216420292 Missense_Mutation SNP C A p.C815F yes
USP19 3 49149786 49149786 Missense_Mutation SNP C T p.R796Q yes
USP20 9 132630595 132630595 Missense_Mutation SNP G T p.W334C yes
USP20 9 132642545 132642545 Missense_Mutation SNP C T p.A913V yes
USP21 1 161134836 161134836 Silent SNP C T p.L504L yes
USP24 1 55604371 55604371 Silent SNP T C p.R946R yes
USP31 16 23160032 23160032 Missense_Mutation SNP G T p.T187N yes
USP35 11 77924744 77924744 Missense_Mutation SNP C T p.T981I yes
USP36 17 76798455 76798455 Silent SNP G A p.S991S yes
USP36 17 76798461 76798461 Silent SNP G T p.P989P yes
USP36 17 76831523 76831523 Missense_Mutation SNP A G p.F105S yes
USP4 3 49322352 49322352 Splice_Site SNP G A p.S734F yes
USP49 6 41773522 41773522 Silent SNP C T p.A400A yes
USP54 10 75283408 75283408 Silent SNP T C p.L765L yes
USP54 10 75283431 75283431 Nonsense_Mutation SNP G A p.R758* yes
UTS2R 17 80332560 80332560 Silent SNP C T p.D120D yes
UTS2R 17 80332408 80332408 Missense_Mutation SNP G A p.A70T yes
VAC14 16 70721875 70721875 Missense_Mutation SNP G A p.R769W yes
VARS 6 31747308 31747308 Silent SNP G C p.S1098S yes
VARS 6 31750353 31750353 Silent SNP G A p.L649L yes
VARS 6 31747018 31747018 Missense_Mutation SNP G A p.S1151L yes
VARS 6 31748873 31748873 Missense_Mutation SNP C T p.A858T yes
VARS 6 31759712 31759712 Missense_Mutation SNP C T p.R303Q yes
VARS 6 31753433 31753434 In_Frame_Ins INS – CCA p.392_393insV yes
VARS2 6 30887966 30887966 Missense_Mutation SNP G A p.M422I yes
VASN 16 4432038 4432038 Missense_Mutation SNP C T p.T387I yes
VASN 16 4432542 4432542 Missense_Mutation SNP C A p.T555K yes
VAV1 19 6821692 6821692 Splice_Site SNP G A no
VCAN 5 82837036 82837036 Missense_Mutation SNP A G p.I2738M yes
VCL 10 75867082 75867082 Silent SNP G A p.P843P yes
VDR 12 48251466 48251466 Silent SNP G A p.L95L yes
VDR 12 48272773 48272773 Nonsense_Mutation SNP C A p.E42* yes
VILL 3 38038579 38038579 Silent SNP C T p.S154S yes
VILL 3 38038585 38038585 Silent SNP C T p.N156N yes
VILL 3 38038656 38038656 Missense_Mutation SNP C G p.T180S yes
VIM 10 17271553 17271553 Silent SNP G A p.L44L yes
VKORC1 16 31106043 31106043 Missense_Mutation SNP C T p.S3N yes
VKORC1 16 31105902 31105902 Missense_Mutation SNP C T p.S50N yes
VNN3 6 133047930 133047930 Missense_Mutation SNP C T p.S132N yes
VPS11 11 118938697 118938697 Missense_Mutation SNP G A p.G55S yes
VPS13B 8 100654345 100654346 Frame_Shift_Ins INS – A p.E1868fs yes
VPS13D 1 12433804 12433804 Splice_Site SNP G A yes
VPS16 20 2846874 2846874 Missense_Mutation SNP G A p.C763Y yes
VPS26A 10 70915642 70915642 Splice_Site SNP T G p.I76M yes
VPS37A 8 17137748 17137749 Splice_Site INS – A p.RK281fs yes
VPS37B 12 123355570 123355570 Silent SNP G A p.A50A yes
VPS52 6 33238025 33238025 Silent SNP A G p.L42L yes
VSIG2 11 124618361 124618361 Missense_Mutation SNP G A p.A259V yes
VWA3A 16 22151507 22151507 Frame_Shift_Del DEL C – p.S775fs yes
VWCE 11 61039180 61039180 Silent SNP C A p.S584S yes
VWDE 7 12383831 12383831 Silent SNP G A p.T1356T yes
VWDE 7 12428958 12428958 Frame_Shift_Del DEL G – p.P90fs yes
VWF 12 6101032 6101032 Missense_Mutation SNP C T p.E2251K yes
VWF 12 6230400 6230400 Missense_Mutation SNP C T p.A54T yes
WBP1 2 74687410 74687410 Frame_Shift_Del DEL C – p.P140fs yes
WBP1 2 74687410 74687411 Frame_Shift_Ins INS – C p.P138fs yes
WDFY4 10 50011346 50011346 Missense_Mutation SNP G T p.A1476S yes
WDFY4 10 50018712 50018712 Missense_Mutation SNP G A p.R1659Q yes
WDR24 16 734759 734759 Missense_Mutation SNP C T p.C913Y yes
WDR25 14 100950346 100950346 Missense_Mutation SNP G A p.S329N yes
WDR3 1 118494939 118494939 Missense_Mutation SNP G C p.V642L yes
WDR33 2 128477001 128477001 Missense_Mutation SNP C A p.Q866H yes
WDR34 9 131397180 131397180 Silent SNP C T p.E334E yes
WDR38 9 127618784 127618784 Missense_Mutation SNP G A p.D175N yes
WDR59 16 74999688 74999688 Missense_Mutation SNP C G p.Q29H yes
WDR5B 3 122134640 122134640 De_novo_Start_OutOfFrame SNP C T yes
WDR6 3 49050773 49050773 Silent SNP G A p.Q602Q yes
WDR62 19 36580199 36580199 Missense_Mutation SNP G A p.R650H yes
WDR74 11 62607118 62607118 De_novo_Start_OutOfFrame SNP G T yes
WDR81 17 1630023 1630023 Silent SNP G A p.Q590Q yes
WDR81 17 1638883 1638883 Missense_Mutation SNP G T p.V1733L yes
WDR86 7 151093209 151093209 Missense_Mutation SNP C T p.G127R yes
WDR87 19 38379433 38379433 Frame_Shift_Del DEL T – p.K1587fs yes
WDR90 16 705076 705076 Silent SNP G C p.V495V yes
WDR90 16 707803 707803 Silent SNP C T p.L839L yes
WDR90 16 716045 716045 Silent SNP C T p.F1510F yes
WDR90 16 706487 706487 Missense_Mutation SNP G C p.V718L yes
WDR90 16 706515 706515 Missense_Mutation SNP G T p.W727L yes
WDR90 16 706523 706523 Missense_Mutation SNP G T p.A730S yes
WDR90 16 708265 708265 Missense_Mutation SNP C G p.A896G yes
WDR90 16 711160 711160 Missense_Mutation SNP C G p.S1167R yes
WEE2 7 141422954 141422954 Missense_Mutation SNP A G p.I301V yes
WHAMM 15 83488179 83488179 Missense_Mutation SNP A G p.I403M yes
WIZ 19 15536372 15536372 Missense_Mutation SNP G A p.A1287V yes
WIZ 19 15535688 15535689 Frame_Shift_Ins INS – C p.P1446fs yes
WNK1 12 971357 971357 Missense_Mutation SNP C T p.T687I yes
WNK2 9 95947803 95947803 Missense_Mutation SNP G A p.D198N no
XAF1 17 6674110 6674110 Missense_Mutation SNP G T p.R219I yes
XDH 2 31621514 31621514 Missense_Mutation SNP T C p.I120V yes
XIRP1 3 39227125 39227125 Missense_Mutation SNP G A p.A1271V yes
XIRP2 2 168105000 168105000 Silent SNP T G p.P2366P yes
XKR4 8 56436200 56436200 Missense_Mutation SNP G T p.R456M yes
XKR4 8 56015289 56015289 Missense_Mutation SNP G C p.G81R yes
XPO4 13 21417961 21417961 Missense_Mutation SNP C T p.S174N yes
XPO7 8 21856609 21856609 Silent SNP C T p.R812R yes
XYLT2 17 48432878 48432878 Missense_Mutation SNP G A p.V342M yes
YBX3 12 10875510 10875510 Silent SNP G C p.T67T yes
YEATS2 3 183521845 183521845 Missense_Mutation SNP T C p.L1218P yes
YIF1A 11 66052208 66052208 Frame_Shift_Del DEL C – p.G261fs yes
YIF1B 19 38798103 38798103 Silent SNP G A p.L252L yes
YIPF2 19 11034657 11034657 Missense_Mutation SNP C T p.S168N yes
YTHDF2 1 29069296 29069296 Missense_Mutation SNP G A p.A172T yes
YY1 14 100706168 100706168 Missense_Mutation SNP G T p.G196V yes
ZBTB1 14 64990361 64990361 Silent SNP C A p.T713T yes
ZBTB20 3 114099077 114099077 Silent SNP G A p.T62T yes
ZBTB22 6 33282947 33282947 Missense_Mutation SNP C A p.G583W yes
ZBTB3 11 62521169 62521169 Missense_Mutation SNP G A p.L40F yes
ZBTB4 17 7366340 7366342 In_Frame_Del DEL TCC – p.653_654EE>E yes
ZBTB45 19 59027964 59027964 Silent SNP G A p.A359A yes
ZBTB7A 19 4054993 4054993 Missense_Mutation SNP C T p.V80I yes
ZBTB8B 1 32936732 32936732 Silent SNP C T p.S169S yes
ZC3H12C 11 110035942 110035942 Missense_Mutation SNP C T p.P711L yes
ZC3H12D 6 149795572 149795572 Silent SNP C T p.V36V yes
ZC3H13 13 46543851 46543851 Missense_Mutation SNP G A p.S943F yes
ZC3H13 13 46549846 46549847 Frame_Shift_Ins INS – TC p.D680fs yes
ZC3H18 16 88665034 88665034 Missense_Mutation SNP C T p.P282S yes
ZC3H3 8 144547896 144547896 Silent SNP C T p.L766L yes
ZC3H3 8 144550393 144550393 Missense_Mutation SNP C G p.V721L yes
ZC3H3 8 144618468 144618468 Missense_Mutation SNP C T p.C507Y yes
ZC3H3 8 144550812 144550812 Missense_Mutation SNP C A p.G641C yes
ZC3H4 19 47569908 47569908 Missense_Mutation SNP G T p.A1206D yes
ZC3H7B 22 41751551 41751551 Nonsense_Mutation SNP C T p.Q705* yes
ZC3HAV1L 7 138720583 138720583 Missense_Mutation SNP C A p.G61W yes
ZCCHC2 18 60227838 60227838 Missense_Mutation SNP T A p.I504K yes
ZDBF2 2 207174428 207174428 Frame_Shift_Del DEL A – p.K1728fs yes
ZDBF2 2 207174869 207174869 Frame_Shift_Del DEL A – p.K1875fs yes
ZER1 9 131503108 131503108 Missense_Mutation SNP G A p.A599V yes
ZER1 9 131503847 131503847 Missense_Mutation SNP G T p.F568L yes
ZFAND1 8 82626258 82626258 Silent SNP T C p.E125E yes
ZFAT 8 135614834 135614834 Silent SNP C T p.A376A yes
ZFP36L2 2 43452062 43452062 Missense_Mutation SNP G A p.S294F yes
ZFP37 9 115806416 115806417 Frame_Shift_Del DEL TT – p.N162fs yes
ZFP82 19 36884100 36884100 Missense_Mutation SNP A G p.L381P yes
ZFPM1 16 88593302 88593302 Silent SNP C T p.A161A yes
ZFYVE1 14 73490980 73490980 Silent SNP C T p.G79G yes
ZFYVE26 14 68220485 68220485 Splice_Site SNP T C yes
ZFYVE26 14 68236351 68236351 Missense_Mutation SNP C T p.A1861T yes
ZHX2 8 123965359 123965359 Missense_Mutation SNP A G p.T537A yes
ZMAT2 5 140080037 140080037 De_novo_Start_OutOfFrame SNP G A yes
ZMIZ1 10 81053212 81053212 Silent SNP C T p.G344G yes
ZMIZ1 10 81072492 81072492 Missense_Mutation SNP T G p.F1064V yes
ZMIZ2 7 44799816 44799816 Missense_Mutation SNP G A p.G354S yes
ZMYM6 1 35452786 35452786 Silent SNP C T p.L1299L yes
ZMYM6 1 35457898 35457898 Missense_Mutation SNP G T p.P695T yes
ZNF136 19 12297642 12297642 Missense_Mutation SNP G A p.S150N yes
ZNF142 2 219507134 219507134 Silent SNP G A p.L1369L yes
ZNF143 11 9549088 9549088 Silent SNP G A p.Q615Q yes
ZNF16 8 146157270 146157270 Silent SNP G A p.A301A yes
ZNF165 6 28057171 28057171 Missense_Mutation SNP T C p.C461R yes
ZNF174 16 3452033 3452033 Missense_Mutation SNP G C p.S10T yes
ZNF205 16 3170222 3170222 Silent SNP C A p.R521R yes
ZNF205 16 3169832 3169832 Missense_Mutation SNP C A p.P391T yes
ZNF239 10 44052826 44052826 Silent SNP G C p.P234P yes
ZNF254 19 24288764 24288764 Missense_Mutation SNP T C p.V18A yes
ZNF264 19 57723646 57723646 Missense_Mutation SNP C T p.T394I yes
ZNF276 16 89789055 89789055 Missense_Mutation SNP G A p.A108T yes
ZNF283 19 44352185 44352185 Missense_Mutation SNP G A p.E478K yes
ZNF318 6 43325179 43325179 Silent SNP A G p.S291S yes
ZNF318 6 43307079 43307080 Frame_Shift_Ins INS – T p.L1553fs yes
ZNF324 19 58982980 58982980 Missense_Mutation SNP G A p.C374Y yes
ZNF324 19 58982983 58982983 Missense_Mutation SNP G C p.G375A yes
ZNF34 8 145999587 145999587 Frame_Shift_Del DEL T – p.K249fs yes
ZNF358 19 7584517 7584517 Frame_Shift_Del DEL C – p.T130fs yes
ZNF362 1 33760876 33760876 Silent SNP C T p.C372C yes
ZNF397 18 32823127 32823127 Missense_Mutation SNP T A p.S142R yes
ZNF419 19 58005396 58005396 Frame_Shift_Del DEL T – p.F492fs yes
ZNF44 19 12360821 12360821 Nonsense_Mutation SNP G A p.Q65* yes
ZNF446 19 58991896 58991896 Nonsense_Mutation SNP C T p.R386* yes
ZNF449 0 134481185 134481185 Missense_Mutation SNP T G p.F48V yes
ZNF470 19 57089330 57089330 Silent SNP T C p.C511C yes
ZNF471 19 57037249 57037249 Missense_Mutation SNP G T p.G605W yes
ZNF48 16 30409751 30409751 Silent SNP C T p.L394L yes
ZNF480 19 52825050 52825050 Missense_Mutation SNP G A p.D183N yes
ZNF496 1 247492701 247492701 Silent SNP C A p.L60L yes
ZNF496 1 247463956 247463956 Missense_Mutation SNP G C p.H543Q yes
ZNF496 1 247492696 247492696 Missense_Mutation SNP C G p.R62P yes
ZNF500 16 4802558 4802558 Missense_Mutation SNP C T p.S421N yes
ZNF502 3 44763010 44763010 Missense_Mutation SNP C T p.T234I yes
ZNF503 10 77158870 77158870 Silent SNP G A p.D526D yes
ZNF503 10 77159384 77159384 Missense_Mutation SNP G A p.A355V yes
ZNF513 2 27600998 27600998 Frame_Shift_Del DEL C – p.G347fs yes
ZNF517 8 146032974 146032974 Silent SNP C T p.L225L yes
ZNF518B 4 10446803 10446803 Missense_Mutation SNP G A p.R384C yes
ZNF526 19 42728829 42728829 Nonsense_Mutation SNP C T p.Q92* yes
ZNF526 19 42729721 42729721 Missense_Mutation SNP G A p.R389H yes
ZNF532 18 56585729 56585729 Silent SNP C T p.N70N yes
ZNF551 19 58198998 58198998 Missense_Mutation SNP G A p.C452Y yes
ZNF556 19 2876167 2876167 Silent SNP G A p.Q69Q yes
ZNF563 19 12430602 12430602 Silent SNP C T p.Q79Q yes
ZNF563 19 12429665 12429665 Missense_Mutation SNP G T p.P392T yes
ZNF570 19 37975122 37975122 Frame_Shift_Del DEL A – p.K201fs yes
ZNF572 8 125989369 125989369 Missense_Mutation SNP C A p.L287I yes
ZNF579 19 56090686 56090686 Missense_Mutation SNP C T p.R107H yes
ZNF585B 19 37676618 37676627 Frame_Shift_Del DEL TTCATAAGGC – p.KPYE604fs yes
ZNF592 15 85326705 85326705 Missense_Mutation SNP T C p.S267P yes
ZNF597 16 3490871 3490871 Missense_Mutation SNP G C p.H32Q yes
ZNF608 5 123984666 123984666 Missense_Mutation SNP G A p.R471W yes
ZNF609 15 64967246 64967247 Frame_Shift_Ins INS – A p.K732fs yes
ZNF628 19 55993640 55993640 Silent SNP C A p.P360P yes
ZNF628 19 55995647 55995647 Silent SNP A G p.A1029A yes
ZNF628 19 55995476 55995476 Missense_Mutation SNP G T p.Q972H yes
ZNF628 19 55995657 55995657 Missense_Mutation SNP C G p.P1033A yes
ZNF628 19 55995622 55995622 Frame_Shift_Del DEL C – p.S1021fs yes
ZNF644 1 91405900 91405900 Silent SNP T C p.S337S yes
ZNF648 1 182026233 182026233 Missense_Mutation SNP G A p.R305W yes
ZNF649 19 52395099 52395100 Frame_Shift_Ins INS – T p.I97fs yes
ZNF667 19 56952799 56952799 Missense_Mutation SNP G A p.T522I yes
ZNF667 19 56953142 56953142 Missense_Mutation SNP G A p.H408Y yes
ZNF678 1 227843218 227843218 Missense_Mutation SNP C T p.H423Y yes
ZNF688 16 30581674 30581674 Missense_Mutation SNP G A p.P132S yes
ZNF691 1 43317302 43317302 Missense_Mutation SNP G A p.E225K yes
ZNF696 8 144378578 144378578 Missense_Mutation SNP C T p.R245C yes
ZNF70 22 24087107 24087107 Missense_Mutation SNP A G p.V74A yes
ZNF701 19 53075555 53075555 Missense_Mutation SNP G C p.A21P yes
ZNF740 12 53581352 53581352 Missense_Mutation SNP C A p.S187Y yes
ZNF764 16 30566777 30566777 Missense_Mutation SNP C T p.R322H yes
ZNF766 19 52793645 52793645 Missense_Mutation SNP A G p.S201G yes
ZNF768 16 30535883 30535883 Silent SNP G A p.S526S yes
ZNF771 16 30429211 30429211 Silent SNP C T p.S159S yes
ZNF771 16 30429457 30429457 Silent SNP C A p.G241G yes
ZNF771 16 30428944 30428944 Silent SNP C T p.R70R yes
ZNF771 16 30429526 30429526 Silent SNP C T p.C264C yes
ZNF771 16 30429497 30429497 Missense_Mutation SNP G A p.G255S yes
ZNF771 16 30429661 30429661 Missense_Mutation SNP G T p.E309D yes
ZNF774 15 90897879 90897879 De_novo_Start_OutOfFrame SNP G A yes
ZNF775 7 150095010 150095010 Missense_Mutation SNP C T p.R481C yes
ZNF780B 19 40540728 40540728 Missense_Mutation SNP G A p.R680C yes
ZNF787 19 56599444 56599444 Missense_Mutation SNP T C p.D366G yes
ZNF788 19 12223357 12223357 Frame_Shift_Del DEL A – p.E332fs yes
ZNF789 7 99084354 99084354 Missense_Mutation SNP G C p.R174T yes
ZNF793 19 38023367 38023367 Missense_Mutation SNP G T p.S42I yes
ZNF8 19 58790462 58790462 Silent SNP C T p.D5D yes
ZNF8 19 58790485 58790485 Missense_Mutation SNP C T p.S13F yes
ZNF800 7 127013548 127013549 Frame_Shift_Ins INS – T p.N614fs yes
ZNF812 19 9800981 9800981 Missense_Mutation SNP A G p.Y400H yes
ZNF816 19 53454347 53454347 Frame_Shift_Del DEL T – p.K227fs yes
ZNF827 4 146806954 146806954 Silent SNP G T p.A541A yes
ZNF839 14 102807914 102807914 Missense_Mutation SNP G A p.A612T yes
ZNF846 19 9870581 9870581 Silent SNP C T p.L89L yes
ZNF862 7 149545311 149545311 Frame_Shift_Del DEL C – p.Y243fs yes
ZNF865 19 56126151 56126151 Silent SNP C T p.R389R yes
ZNF865 19 56125611 56125612 Frame_Shift_Ins INS – A p.K210fs yes
ZNF878 19 12157211 12157211 Missense_Mutation SNP C T p.E55K yes
ZNFX1 20 47887221 47887221 Silent SNP C T p.L376L yes
ZP1 11 60638756 60638756 Nonsense_Mutation SNP C T p.Q361* yes
ZRSR2 0 15833863 15833863 Silent SNP G A p.T207T no
ZSCAN18 19 58598697 58598697 Missense_Mutation SNP C T p.A210T yes
ZSCAN18 19 58600118 58600118 Missense_Mutation SNP C A p.G164C yes
ZSCAN22 19 58849920 58849920 Missense_Mutation SNP A G p.N235S yes
ZSCAN31 6 28321641 28321641 De_novo_Start_OutOfFrame SNP C T yes
ZSCAN32 16 3447224 3447224 Missense_Mutation SNP C T p.V112I yes
ZSWIM1 20 44512369 44512369 Missense_Mutation SNP G A p.A380T yes
ZSWIM1 20 44512611 44512611 Missense_Mutation SNP G T p.E460D yes
ZSWIM3 20 44506385 44506385 Missense_Mutation SNP C G p.D396E yes
ZYG11A 1 53332241 53332241 Splice_Site SNP C T yes

You may also like…

Related Products

  •
    Idylla™ MSI FFPE Reference Set [CE-IVD] €
  • PIK3CA-E542K 50 % AF FFPE Reference Standard curl €
  • Ashkenazim Son FFPE Reference Standard curl €